!gaf-version: 2.2 !{ As of December 2016, the gene_association.rgd file only contains 'RGD' in column 1 and RGD gene identifiers in column 2. } !{ The gene_protein_association.rgd file (available on the RGD ftp site) contains both RGD gene and UniProt protein IDs. } !generated-by: RGD !date-generated: 2026-07-18 RGD 10059213 LINC01595 severity HP:0025020 RGD:8657378|PMID:19914098 IAGP H long independently transcribed non-coding RNA 1595 gene taxon:9606 20190318 RGD RGD 10065 ACLY HP:0001402 RGD:8554872 IAGP RGD:713679466 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10065 ACLY HP:0001402 RGD:8554872 IAGP RGD:713699929 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10065 ACLY HP:0001402 RGD:8554872 IAGP RGD:713699945 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10065 ACLY HP:0006725 RGD:8554872 IAGP RGD:713679450 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10065 ACLY HP:0006725 RGD:8554872 IAGP RGD:714180732 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10065 ACLY HP:0006770 RGD:8554872 IAGP RGD:714180735 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10065 ACLY HP:0007716 RGD:8554872 IAGP RGD:713795012 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10065 ACLY HP:0011797 RGD:8554872 IAGP RGD:713703309 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10065 ACLY HP:0011797 RGD:8554872 IAGP RGD:713703346 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10065 ACLY HP:0011797 RGD:8554872 IAGP RGD:713703370 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10065 ACLY HP:0012126 RGD:8554872 IAGP RGD:713699977 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10065 ACLY HP:0012126 RGD:8554872 IAGP RGD:714140294 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10065 ACLY HP:0012126 RGD:8554872 IAGP RGD:714140307 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10065 ACLY HP:0012126 RGD:8554872 IAGP RGD:714140318 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10065 ACLY HP:0100522 RGD:8554872 IAGP RGD:713679466 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10065 ACLY HP:0100526 RGD:8554872 IAGP RGD:713699997 H ATP citrate lyase gene taxon:9606 20260707 ClinVar RGD 10065 ACLY HP:0100526 RGD:8554872 IAGP RGD:714140294 H ATP citrate lyase gene taxon:9606 20260707 ClinVar RGD 10065 ACLY HP:0100526 RGD:8554872 IAGP RGD:714180742 H ATP citrate lyase gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0001402 PMID:25741868|RGD:8554872 IAGP RGD:713724646 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0001402 RGD:8554872 IAGP RGD:714088562 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0001402 RGD:8554872 IAGP RGD:714088571 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0002861 RGD:8554872 IAGP RGD:713584224 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0003003 PMID:25741868|RGD:8554872 IAGP RGD:713724646 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0004808 RGD:8554872 IAGP RGD:714261428 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0006770 RGD:8554872 IAGP RGD:713584206 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0006770 RGD:8554872 IAGP RGD:713584275 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0006770 RGD:8554872 IAGP RGD:713815035 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0012126 RGD:8554872 IAGP RGD:713724597 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0012126 RGD:8554872 IAGP RGD:713983945 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0030153 RGD:8554872 IAGP RGD:713584260 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0100242 PMID:25741868|RGD:8554872 IAGP RGD:713724646 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0100242 RGD:8554872 IAGP RGD:713584044 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0100242 RGD:8554872 IAGP RGD:713584074 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0100522 PMID:25741868|RGD:8554872 IAGP RGD:713724646 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0100526 PMID:25741868|RGD:8554872 IAGP RGD:713724646 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0100526 RGD:8554872 IAGP RGD:713584094 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0100526 RGD:8554872 IAGP RGD:713584311 H aconitase 1 gene taxon:9606 20260519 ClinVar RGD 10067 ACO1 HP:0100526 RGD:8554872 IAGP RGD:713724617 H aconitase 1 gene taxon:9606 20260707 ClinVar RGD 10069 ACP1 HP:0001402 RGD:8554872 IAGP RGD:713745665 H acid phosphatase 1 gene taxon:9606 20260519 ClinVar RGD 10069 ACP1 HP:0002861 RGD:8554872 IAGP RGD:713758160 H acid phosphatase 1 gene taxon:9606 20260519 ClinVar RGD 10069 ACP1 HP:0006770 RGD:8554872 IAGP RGD:713758236 H acid phosphatase 1 gene taxon:9606 20260519 ClinVar RGD 10071 ACP2 HP:0006770 RGD:8554872 IAGP RGD:713372439 H acid phosphatase 2, lysosomal gene taxon:9606 20260519 ClinVar RGD 10071 ACP2 HP:0012126 RGD:8554872 IAGP RGD:714019654 H acid phosphatase 2, lysosomal gene taxon:9606 20260519 ClinVar RGD 10071 ACP2 HP:0012126 RGD:8554872 IAGP RGD:714019662 H acid phosphatase 2, lysosomal gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0000007 MIM:607944|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20260209 HPO RGD 10073 ACP5 HP:0000093 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0000099 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0000252 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0000262 MIM:607944|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0000326 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0000343 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0000358 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0000369 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0000403 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0000460 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0000463 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0000582 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0000664 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0000684 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0000689 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0000707 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0000716 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0000768 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20260209 HPO RGD 10073 ACP5 HP:0000790 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0000821 MIM:607944|ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250416 HPO RGD 10073 ACP5 HP:0000822 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0000824 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0000926 MIM:607944|ORPHA:1855|PMID:26951490|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20260209 HPO RGD 10073 ACP5 HP:0000926 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0000946 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0000979 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0000988 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0000995 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0001010 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0001034 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0001045 MIM:607944|ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250416 HPO RGD 10073 ACP5 HP:0001072 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0001159 PMID:25741868|RGD:8554872 IAGP RGD:401856659 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0001182 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0001249 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20260209 HPO RGD 10073 ACP5 HP:0001250 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0001256 MIM:607944|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20260209 HPO RGD 10073 ACP5 HP:0001257 MIM:607944|ORPHA:1855|PMID:26951490|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0001258 PMID:25741868|RGD:8554872 IAGP RGD:401855479 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0001260 PMID:25741868|RGD:8554872 IAGP RGD:401855479 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0001263 MIM:607944|ORPHA:1855|PMID:26951490|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20260209 HPO RGD 10073 ACP5 HP:0001263 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:401855479 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0001264 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0001270 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0001270 PMID:21217752|PMID:21217755|PMID:25741868|PMID:26789720|PMID:28492532|RGD:8554872 IAGP RGD:11087601 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0001270 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0001276 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0001290 PMID:21217752|PMID:21217755|PMID:25741868|PMID:26789720|PMID:28492532|RGD:8554872 IAGP RGD:11087601 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0001290 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0001298 PMID:25741868|RGD:8554872 IAGP RGD:155643324 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0001369 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0001370 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0001370 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0001377 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0001386 MIM:607944|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0001552 MIM:607944|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0001875 MIM:607944|PMID:26951490|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0001876 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0001878 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0001888 MIM:607944|PMID:26951490|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0001890 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0001890 PMID:21217752|PMID:21217755|PMID:25741868|PMID:26789720|PMID:28492532|RGD:8554872 IAGP RGD:11087601 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0001890 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0001903 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151830453 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0001955 PMID:21217752|PMID:21217755|PMID:25741868|PMID:26789720|PMID:28492532|RGD:8554872 IAGP RGD:11087601 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0001955 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0001973 MIM:607944|ORPHA:1855|PMID:26951490|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0002007 MIM:607944|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:401855479 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0002072 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0002090 MIM:607944|ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250416 HPO RGD 10073 ACP5 HP:0002091 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0002119 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0002162 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0002194 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151830453 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0002205 MIM:607944|PMID:26951490|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0002240 PMID:21217752|PMID:21217755|PMID:25741868|PMID:26789720|PMID:28492532|RGD:8554872 IAGP RGD:11087601 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0002240 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0002250 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0002315 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20251023 HPO RGD 10073 ACP5 HP:0002354 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0002478 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0002514 MIM:607944|ORPHA:1855|PMID:26951490|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0002518 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0002577 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0002633 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0002650 MIM:607944|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20251023 HPO RGD 10073 ACP5 HP:0002652 PMID:25741868|RGD:8554872 IAGP RGD:401856659 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0002657 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0002694 MIM:607944|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20251023 HPO RGD 10073 ACP5 HP:0002716 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0002716 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151830453 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0002719 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0002721 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0002725 MIM:607944|ORPHA:1855|PMID:26951490|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0002725 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0002751 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0002808 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0002938 MIM:607944|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20260209 HPO RGD 10073 ACP5 HP:0002958 MIM:607944|PMID:26951490|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0002958 PMID:25741868|RGD:8554872 IAGP RGD:155643324 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0002960 MIM:607944|ORPHA:1855|PMID:26951490|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0002979 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0003016 MIM:607944|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20260209 HPO RGD 10073 ACP5 HP:0003025 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0003301 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0003326 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0003493 MIM:607944|ORPHA:1855|PMID:26951490|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0003521 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0003577 MIM:607944|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0003621 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20251023 HPO RGD 10073 ACP5 HP:0004279 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0004322 MIM:607944|ORPHA:1855|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0004322 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0004325 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0004979 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0005280 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0005374 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0005387 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0005403 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0005576 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0005681 MIM:607944|ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250416 HPO RGD 10073 ACP5 HP:0007526 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0008071 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0009800 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0009826 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0009882 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0010674 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0011108 MIM:607944|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0011438 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0011463 MIM:607944|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0011797 RGD:8554872 IAGP RGD:714189991 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0011800 MIM:607944|ORPHA:1855|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0011873 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0011968 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0012115 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0012514 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20251023 HPO RGD 10073 ACP5 HP:0012622 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0020151 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0030038 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0030047 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0030320 MIM:607944|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0030359 RGD:8554872 IAGP RGD:713877766 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0030880 MIM:607944|ORPHA:1855|PMID:26951490|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0032252 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10073 ACP5 HP:0100255 MIM:607944|ORPHA:1855|PMID:26951490|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0100526 RGD:8554872 IAGP RGD:713877792 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0100543 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0100866 MIM:607944|PMID:2918547|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20250912 HPO RGD 10073 ACP5 HP:0200055 PMID:21217752|PMID:25741868|PMID:26951490|PMID:28492532|PMID:38347954|RGD:8554872 IAGP RGD:8555278 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260602 ClinVar RGD 10073 ACP5 HP:0410009 PMID:28492532|RGD:8554872 IAGP RGD:14701844 H acid phosphatase 5, tartrate resistant gene taxon:9606 20260519 ClinVar RGD 10073 ACP5 HP:0410263 ORPHA:1855|RGD:8699517 IAGP H acid phosphatase 5, tartrate resistant gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000006 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151735455 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000010 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000011 PMID:20301586|PMID:25741868|RGD:8554872 IAGP RGD:153349233 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000015 MIM:304150|ORPHA:198|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0000023 ORPHA:198|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0000028 PMID:25741868|RGD:8554872 IAGP RGD:596928416 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000076 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151735455 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000110 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151735455 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000118 PMID:28492532|RGD:8554872 IAGP RGD:13532794 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000126 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000126 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151735455 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000162 PMID:18414213|PMID:24630286|PMID:25741868|PMID:34008892|RGD:8554872 IAGP RGD:10408337 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000164 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000174 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000218 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000238 PMID:25741868|RGD:8554872 IAGP RGD:596928416 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000239 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000248 MIM:309400|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000252 MIM:309400|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0000269 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000270 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000271 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000271 PMID:25741868|RGD:8554872 IAGP RGD:155643240 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000275 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000276 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000278 PMID:25741868|RGD:8554872 IAGP RGD:596928416 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000293 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000298 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000343 MIM:304150|ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0000347 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000348 MIM:304150|ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:150557143 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000444 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000452 PMID:18414213|PMID:24630286|PMID:25741868|PMID:34008892|RGD:8554872 IAGP RGD:10408337 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000472 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000494 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:156318291 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000582 PMID:25741868|RGD:8554872 IAGP RGD:596928416 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000639 PMID:20301586|PMID:25741868|RGD:8554872 IAGP RGD:153349233 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000648 PMID:20301586|PMID:25741868|RGD:8554872 IAGP RGD:153349233 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:156345085 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:408394620 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000708 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000717 PMID:28492532|RGD:8554872 IAGP RGD:15124373 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000729 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13609851 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000759 MIM:300489|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000767 MIM:304150|ORPHA:198|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0000767 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000767 PMID:18414213|PMID:24630286|PMID:25741868|PMID:34008892|RGD:8554872 IAGP RGD:10408337 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000768 MIM:304150|ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0000772 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151735455 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000774 MIM:304150|ORPHA:198|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0000885 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000894 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000916 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000926 MIM:304150|ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0000929 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000929 RGD:8554872 IAGP RGD:34888566 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000934 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000938 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000939 MIM:304150|MIM:309400|ORPHA:198|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0000944 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000952 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000958 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000973 MIM:309400|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000973 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000973 PMID:25741868|RGD:8554872 IAGP RGD:150557143 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000973 RGD:11252182|PMID:7842019 IAGP H ATPase copper transporting alpha gene taxon:9606 20160628 RGD RGD 10216 ATP7A HP:0000974 MIM:304150|ORPHA:198|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0000977 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0000978 MIM:304150|ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0000980 PMID:11241493|PMID:11350187|PMID:18414213|PMID:20652413|PMID:22552817|PMID:26117549|PMID:28492532|PMID:32005694|PMID:7977350|PMID:8981948|RGD:8554872 IAGP RGD:10408329 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0000987 ORPHA:198|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0001010 MIM:309400|PMID:34430447|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0001072 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001075 PMID:28492532|RGD:8554872 IAGP RGD:156318291 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001156 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001241 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001249 MIM:309400|ORPHA:198|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0001249 PMID:20301586|PMID:25741868|RGD:8554872 IAGP RGD:153349233 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38494810 H ATPase copper transporting alpha gene taxon:9606 20210323 ClinVar RGD 10216 ATP7A HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38597595 H ATPase copper transporting alpha gene taxon:9606 20210323 ClinVar RGD 10216 ATP7A HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:596928416 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001249 PMID:28492532|RGD:8554872 IAGP RGD:14729265 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001249 PMID:28492532|RGD:8554872 IAGP RGD:15124373 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001250 MIM:304150|MIM:309400|ORPHA:565|PMID:34430447|PMID:7842019|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0001250 PMID:11241493|PMID:11350187|PMID:18414213|PMID:20652413|PMID:22552817|PMID:26117549|PMID:28492532|PMID:32005694|PMID:7977350|PMID:8981948|RGD:8554872 IAGP RGD:10408329 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001250 PMID:15596607|RGD:8554872 IAGP RGD:38598830 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001250 PMID:18414213|PMID:24630286|PMID:25741868|PMID:34008892|RGD:8554872 IAGP RGD:10408337 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001250 PMID:20301586|PMID:25741868|RGD:8554872 IAGP RGD:153349233 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:596928416 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:14729265 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:405854989 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001252 MIM:309400|ORPHA:198|ORPHA:565|PMID:34430447|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0001252 PMID:20301586|PMID:25741868|RGD:8554872 IAGP RGD:153349233 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001252 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13529043 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:405854989 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:598122355 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:405854989 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001257 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001263 MIM:304150|ORPHA:198|PMID:7842019|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0001263 PMID:11241493|PMID:11350187|PMID:18414213|PMID:20652413|PMID:22552817|PMID:26117549|PMID:28492532|PMID:32005694|PMID:7977350|PMID:8981948|RGD:8554872 IAGP RGD:10408329 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001263 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001263 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13529043 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:405854989 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001265 MIM:300489|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001266 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001276 MIM:309400|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0001278 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001288 RGD:8554872 IAGP RGD:153001449 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001290 PMID:11241493|PMID:11350187|PMID:18414213|PMID:20652413|PMID:22552817|PMID:26117549|PMID:28492532|PMID:32005694|PMID:7977350|PMID:8981948|RGD:8554872 IAGP RGD:10408329 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001290 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001317 PMID:18414213|PMID:24919650|PMID:25741868|RGD:8554872 IAGP RGD:10408551 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001324 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001324 PMID:25741868|RGD:8554872 IAGP RGD:155643240 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001328 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001344 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001371 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001373 RGD:8554872 IAGP RGD:401919384 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001377 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001382 MIM:304150|MIM:309400|ORPHA:198|ORPHA:565|PMID:34430447|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0001382 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001382 PMID:28492532|RGD:8554872 IAGP RGD:156318291 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001385 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001396 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001417 PMID:18414213|PMID:24630286|PMID:25741868|PMID:34008892|RGD:8554872 IAGP RGD:10408337 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001419 MIM:300489|MIM:304150|MIM:309400|PMID:7842019|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0001508 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001510 MIM:304150|ORPHA:388|PMID:7842019|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0001511 MIM:309400|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0001513 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13609851 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001525 PMID:11241493|PMID:11350187|PMID:18414213|PMID:20652413|PMID:22552817|PMID:26117549|PMID:28492532|PMID:32005694|PMID:7977350|PMID:8981948|RGD:8554872 IAGP RGD:10408329 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001531 ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001537 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001561 ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20241212 HPO RGD 10216 ATP7A HP:0001582 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001595 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001596 MIM:309400|PMID:34430447|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0001622 PMID:28492532|RGD:8554872 IAGP RGD:156318291 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001629 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151735455 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001631 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151735455 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001659 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151735455 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001761 MIM:300489|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001763 MIM:304150|ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0001824 ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001943 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0001943 PMID:18414213|PMID:24630286|PMID:25741868|PMID:34008892|RGD:8554872 IAGP RGD:10408337 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0001945 PMID:11241493|PMID:11350187|PMID:18414213|PMID:20652413|PMID:22552817|PMID:26117549|PMID:28492532|PMID:32005694|PMID:7977350|PMID:8981948|RGD:8554872 IAGP RGD:10408329 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0002014 ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002015 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002017 ORPHA:388|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0002019 ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002020 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002024 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002027 ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002028 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002028 RGD:8554872 IAGP RGD:401919384 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0002033 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002036 MIM:304150|ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0002045 MIM:309400|ORPHA:198|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0002069 PMID:28492532|RGD:8554872 IAGP RGD:15124373 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0002072 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002170 MIM:309400|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0002194 PMID:28492532|RGD:8554872 IAGP RGD:15124373 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0002208 MIM:304150|ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0002212 PMID:25741868|RGD:8554872 IAGP RGD:155643240 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0002224 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002239 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002251 ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002299 MIM:309400|PMID:34430447|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0002317 MIM:300489|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002365 PMID:20301586|PMID:25741868|RGD:8554872 IAGP RGD:153349233 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0002376 MIM:309400|ORPHA:565|PMID:34430447|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0002376 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0002415 PMID:15596607|RGD:8554872 IAGP RGD:38598830 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0002421 MIM:309400|PMID:34430447|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0002460 MIM:300489|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002514 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002521 MIM:309400|PMID:34430447|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0002578 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002617 ORPHA:198|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0002645 MIM:309400|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0002650 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002659 PMID:25741868|RGD:8554872 IAGP RGD:150557143 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0002673 MIM:304150|ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0002705 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002748 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002749 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002754 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002757 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002761 PMID:25741868|RGD:8554872 IAGP RGD:155643240 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0002797 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002808 MIM:304150|ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0002812 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002827 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002857 MIM:304150|ORPHA:198|PMID:7842019|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0002861 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12847282 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0002861 RGD:8554872 IAGP RGD:713472859 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0002861 RGD:8554872 IAGP RGD:713472945 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0002862 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002871 PMID:18414213|PMID:24630286|PMID:25741868|PMID:34008892|RGD:8554872 IAGP RGD:10408337 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0002936 MIM:300489|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002991 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0002996 RGD:8554872 IAGP RGD:401919384 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0003016 MIM:309400|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0003016 PMID:25741868|RGD:8554872 IAGP RGD:155643240 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0003019 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0003066 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0003172 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0003270 ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20241212 HPO RGD 10216 ATP7A HP:0003276 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0003445 MIM:300489|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0003445 RGD:8554872 IAGP RGD:34888566 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0003487 MIM:309400|PMID:34430447|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0003560 PMID:14635105|PMID:25741868|PMID:28492532|PMID:34440436|RGD:8554872 IAGP RGD:155986085 H ATPase copper transporting alpha gene taxon:9606 20260616 ClinVar RGD 10216 ATP7A HP:0003560 PMID:25741868|RGD:8554872 IAGP RGD:155643240 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0003593 MIM:309400|PMID:34430447|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0003593 PMID:18414213|PMID:24630286|PMID:25741868|PMID:34008892|RGD:8554872 IAGP RGD:10408337 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0003621 MIM:300489|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0003677 MIM:300489|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0003693 MIM:300489|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0003693 RGD:8554872 IAGP RGD:153001449 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0003763 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0003777 MIM:304150|PMID:7842019|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0003819 MIM:309400|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0003874 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0004279 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0004322 MIM:309400|ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0004387 ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20241212 HPO RGD 10216 ATP7A HP:0004408 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0004474 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0004808 RGD:8554872 IAGP RGD:713364472 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0005054 MIM:309400|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0005214 ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0005293 ORPHA:198|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0005294 PMID:28492532|RGD:8554872 IAGP RGD:156318291 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0005302 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0005306 PMID:25741868|RGD:8554872 IAGP RGD:596928416 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0005344 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0005599 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0005743 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0005792 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0006000 MIM:304150|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0006487 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0006507 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0006579 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0006660 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0006770 PMID:28492532|RGD:8554872 IAGP RGD:13830809 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0006770 RGD:8554872 IAGP RGD:713472880 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0006863 PMID:28492532|RGD:8554872 IAGP RGD:15124373 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0007269 MIM:300489|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0007359 PMID:25741868|RGD:8554872 IAGP RGD:598122355 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0007420 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0008070 MIM:309400|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0008070 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0008368 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0008818 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0008872 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0008936 PMID:25741868|RGD:8554872 IAGP RGD:596928416 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0008947 PMID:18414213|PMID:24630286|PMID:25741868|PMID:34008892|RGD:8554872 IAGP RGD:10408337 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0009556 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0010318 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0010547 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0010562 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0010719 PMID:11241493|PMID:11350187|PMID:18414213|PMID:20652413|PMID:22552817|PMID:26117549|PMID:28492532|PMID:32005694|PMID:7977350|PMID:8981948|RGD:8554872 IAGP RGD:10408329 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0010719 PMID:25741868|RGD:8554872 IAGP RGD:155643240 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0010837 MIM:304150|MIM:309400|PMID:34430447|PMID:7842019|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0010837 PMID:11241493|PMID:11350187|PMID:18414213|PMID:20652413|PMID:22552817|PMID:26117549|PMID:28492532|PMID:32005694|PMID:7977350|PMID:8981948|RGD:8554872 IAGP RGD:10408329 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0010837 PMID:18414213|PMID:24630286|PMID:25741868|PMID:34008892|RGD:8554872 IAGP RGD:10408337 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0010837 PMID:20301586|PMID:25741868|RGD:8554872 IAGP RGD:153349233 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0010837 RGD:11252186|PMID:21208200 IAGP H ATPase copper transporting alpha gene taxon:9606 20160628 RGD RGD 10216 ATP7A HP:0010862 PMID:28492532|RGD:8554872 IAGP RGD:15124373 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0010864 PMID:28492532|RGD:8554872 IAGP RGD:15124373 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0010956 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401940428 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0011097 MIM:309400|PMID:34430447|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0011342 PMID:25741868|RGD:8554872 IAGP RGD:596928416 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0011343 PMID:25741868|RGD:8554872 IAGP RGD:598122355 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0011343 PMID:28492532|RGD:8554872 IAGP RGD:15124373 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0011344 PMID:18414213|PMID:24630286|PMID:25741868|PMID:34008892|RGD:8554872 IAGP RGD:10408337 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0011446 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13609851 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0011675 PMID:25741868|RGD:8554872 IAGP RGD:150557143 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0011797 RGD:8554872 IAGP RGD:713369971 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0011951 PMID:18414213|PMID:21716286|PMID:25741868|PMID:8981948|RGD:8554872 IAGP RGD:10408309 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0011967 MIM:304150|PMID:7842019|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0011967 PMID:14635105|PMID:25741868|PMID:28492532|PMID:34440436|RGD:8554872 IAGP RGD:155986085 H ATPase copper transporting alpha gene taxon:9606 20260616 ClinVar RGD 10216 ATP7A HP:0011967 PMID:20301586|PMID:25741868|RGD:8554872 IAGP RGD:153349233 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0011967 RGD:11252186|PMID:21208200 IAGP H ATPase copper transporting alpha gene taxon:9606 20160628 RGD RGD 10216 ATP7A HP:0011968 ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20241212 HPO RGD 10216 ATP7A HP:0012115 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0012332 RGD:8554872 IAGP RGD:34888566 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0012378 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0012719 ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0012759 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13609851 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0025270 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0030359 RGD:8554872 IAGP RGD:713472770 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0030359 RGD:8554872 IAGP RGD:713472833 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0031369 ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20241212 HPO RGD 10216 ATP7A HP:0032245 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13609832 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0034754 ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20241212 HPO RGD 10216 ATP7A HP:0034975 RGD:8554872 IAGP RGD:401919384 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0100240 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0100242 RGD:8554872 IAGP RGD:713472846 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0100526 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499866 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0100526 RGD:8554872 IAGP RGD:713472929 H ATPase copper transporting alpha gene taxon:9606 20260519 ClinVar RGD 10216 ATP7A HP:0100541 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0100545 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0100633 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0100699 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0100777 MIM:304150|ORPHA:198|ORPHA:565|PMID:7842019|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250912 HPO RGD 10216 ATP7A HP:0100790 ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0100806 ORPHA:388|ORPHA:565|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20250416 HPO RGD 10216 ATP7A HP:0100874 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:0200021 ORPHA:198|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20230821 HPO RGD 10216 ATP7A HP:6000224 ORPHA:388|RGD:8699517 IAGP H ATPase copper transporting alpha gene taxon:9606 20241212 HPO RGD 10249 BSG HP:0002861 RGD:8554872 IAGP RGD:713677991 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10249 BSG HP:0004808 RGD:8554872 IAGP RGD:405287495 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10249 BSG HP:0004808 RGD:8554872 IAGP RGD:713838153 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10249 BSG HP:0006725 RGD:8554872 IAGP RGD:713677398 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10249 BSG HP:0006770 RGD:8554872 IAGP RGD:713677295 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10249 BSG HP:0006770 RGD:8554872 IAGP RGD:713677466 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10249 BSG HP:0006770 RGD:8554872 IAGP RGD:713677948 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10249 BSG HP:0006770 RGD:8554872 IAGP RGD:713677963 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10249 BSG HP:0006770 RGD:8554872 IAGP RGD:713678107 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10249 BSG HP:0011797 RGD:8554872 IAGP RGD:405287495 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10249 BSG HP:0012126 RGD:8554872 IAGP RGD:713770205 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10249 BSG HP:0012126 RGD:8554872 IAGP RGD:713770224 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10249 BSG HP:0030153 RGD:8554872 IAGP RGD:405287495 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10249 BSG HP:0100242 RGD:8554872 IAGP RGD:405287495 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10249 BSG HP:0100526 RGD:8554872 IAGP RGD:405287495 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10249 BSG HP:0100526 RGD:8554872 IAGP RGD:713677275 H basigin (Ok blood group) gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000006 MIM:601005|MIM:611875|MIM:618447|MIM:620029|PMID:15454078|PMID:17224476|PMID:23677916|PMID:29736926|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260209 HPO RGD 10268 CACNA1C HP:0000160 MIM:620029|PMID:29736926|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0000160 RGD:8554872 IAGP RGD:151233774 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000163 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0000164 PMID:25741868|RGD:8554872 IAGP RGD:150338139 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000218 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000218 PMID:25741868|RGD:8554872 IAGP RGD:401828965 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000219 MIM:601005|MIM:620029|PMID:15454078|PMID:29736926|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0000233 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0000233 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000252 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12898102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:243059235 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:401828965 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000286 PMID:25741868|RGD:8554872 IAGP RGD:151713486 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000297 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000306 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0000311 MIM:601005|MIM:620029|PMID:15454078|PMID:29736926|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0000347 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0000365 ORPHA:101016|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10268 CACNA1C HP:0000369 MIM:620029|PMID:29736926|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0000369 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11345011 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000377 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11345011 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000389 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000405 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000474 RGD:8554872 IAGP RGD:405745693 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000476 RGD:8554872 IAGP RGD:405745693 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000496 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0000504 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0000520 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260209 HPO RGD 10268 CACNA1C HP:0000565 RGD:8554872 IAGP RGD:401948560 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000577 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000586 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0000587 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0000601 RGD:8554872 IAGP RGD:13532049 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000609 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0000613 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000648 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000678 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000682 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000689 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000691 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0000704 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:596924870 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000708 PMID:25741868|RGD:8554872 IAGP RGD:401828965 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000717 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0000717 RGD:8554872 IAGP RGD:150452895 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000718 PMID:25741868|RGD:8554872 IAGP RGD:401828965 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000721 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000729 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10044546 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230912 ClinVar RGD 10268 CACNA1C HP:0000729 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12898102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:156435457 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:41407796 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:616937452 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000750 MIM:620029|PMID:29736926|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:401798346 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:41407796 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000750 RGD:8554872 IAGP RGD:401948560 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000768 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0000821 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0000824 PMID:25741868|RGD:8554872 IAGP RGD:616937452 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000954 RGD:8554872 IAGP RGD:151233774 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000957 RGD:8554872 IAGP RGD:150452895 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000964 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000969 RGD:8554872 IAGP RGD:713691879 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0000997 RGD:8554872 IAGP RGD:150452895 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001027 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001159 MIM:618447|PMID:23677916|PMID:24728418|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001188 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001193 PMID:10343407|PMID:20543828|PMID:22020278|PMID:25741868|RGD:8554872 IAGP RGD:13530222 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001195 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001197 ORPHA:101016|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10268 CACNA1C HP:0001212 PMID:25741868|RGD:8554872 IAGP RGD:243059235 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001249 MIM:601005|MIM:618447|MIM:620029|PMID:15454078|PMID:23677916|PMID:34163037|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:405257102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:40814391 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:40814392 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:40814433 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:41407796 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:616937452 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001249 RGD:8554872 IAGP RGD:150452895 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001249 RGD:8554872 IAGP RGD:153349275 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001249 RGD:8554872 IAGP RGD:408393605 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001250 MIM:601005|MIM:620029|ORPHA:101016|PMID:15454078|PMID:34163037|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001250 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12898102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:401855666 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:10053389 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001250 PMID:33818783|RGD:8554872 IAGP RGD:151758210 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001250 RGD:8554872 IAGP RGD:12741737 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0001250 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0001250 RGD:8554872 IAGP RGD:150452895 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001250 RGD:8554872 IAGP RGD:151233774 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001250 RGD:8554872 IAGP RGD:153349275 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001250 RGD:8554872 IAGP RGD:408393605 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001250 RGD:8554872 IAGP RGD:714064013 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001252 MIM:601005|MIM:620029|PMID:15454078|PMID:34163037|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:150434676 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:151713486 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:401797814 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:401798346 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:401828965 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001252 RGD:8554872 IAGP RGD:151233774 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001252 RGD:8554872 IAGP RGD:713691879 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001257 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001263 MIM:601005|MIM:620029|PMID:15454078|PMID:29736926|PMID:34163037|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001263 PMID:10343407|PMID:20543828|PMID:22020278|PMID:25741868|RGD:8554872 IAGP RGD:13530222 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:243059235 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:401797814 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:401828965 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:405257102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:616937452 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001263 RGD:8554872 IAGP RGD:151233774 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001263 RGD:8554872 IAGP RGD:401948560 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001266 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001270 MIM:620029|PMID:34163037|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:401798346 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001276 PMID:10343407|PMID:20543828|PMID:22020278|PMID:25741868|RGD:8554872 IAGP RGD:13530222 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001279 MIM:611875|MIM:618447|ORPHA:101016|ORPHA:130|PMID:17224476|PMID:23677916|PMID:24728418|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001279 PMID:25741868|RGD:8554872 IAGP RGD:401855103 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001279 RGD:8554872 IAGP RGD:150452895 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:243059235 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001290 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0001298 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12898102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001298 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0001315 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001337 PMID:25741868|RGD:8554872 IAGP RGD:405257102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001337 RGD:8554872 IAGP RGD:597832621 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001344 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001344 PMID:25741868|RGD:8554872 IAGP RGD:401797814 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001371 MIM:620029|PMID:29736926|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001385 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001410 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12898102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:243059235 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001508 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0001513 PMID:25741868|RGD:8554872 IAGP RGD:616937452 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001513 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0001562 RGD:8554872 IAGP RGD:401948560 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001595 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0001601 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001629 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001629 PMID:25741868|RGD:8554872 IAGP RGD:401828965 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001631 PMID:25741868|RGD:8554872 IAGP RGD:401828965 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001635 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9692736 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260707 ClinVar RGD 10268 CACNA1C HP:0001636 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260209 HPO RGD 10268 CACNA1C HP:0001638 RGD:8554872 IAGP RGD:150507985 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001639 PMID:25741868|PMID:33797204|RGD:8554872 IAGP RGD:401948061 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240109 ClinVar RGD 10268 CACNA1C HP:0001639 RGD:8554872 IAGP RGD:401857779 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001640 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001642 PMID:25741868|RGD:8554872 IAGP RGD:401828965 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001643 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001645 MIM:611875|MIM:618447|ORPHA:101016|PMID:17224476|PMID:23677916|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001645 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10044530 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001649 ORPHA:130|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10268 CACNA1C HP:0001650 PMID:25741868|RGD:8554872 IAGP RGD:616937452 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001655 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001657 MIM:601005|MIM:620029|PMID:15454078|PMID:34163037|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001657 PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:21878566|PMID:21910241|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532|RGD:8554872 IAGP RGD:8600658 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:15863612|PMID:18250309|PMID:19074970|PMID:22990809|PMID:25741868|PMID:26227324|PMID:26301350|PMID:26822303|PMID:28371864|PMID:28492532|RGD:8554872 IAGP RGD:10044531 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:15863612|PMID:21685391|PMID:23979604|PMID:24773605|PMID:25691416|PMID:25741868|PMID:26822303|PMID:28492532|RGD:8554872 IAGP RGD:9586818 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:15863612|PMID:21685391|PMID:28492532|PMID:32161207|RGD:8554872 IAGP RGD:8600659 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:16199547|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151347967 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:16199547|PMID:28492532|RGD:8554872 IAGP RGD:405003222 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:16199547|PMID:28492532|RGD:8554872 IAGP RGD:405007481 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:16199547|PMID:28492532|RGD:8554872 IAGP RGD:597961942 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:25260352|PMID:25741868|PMID:28492532|PMID:28878402|PMID:29754768|PMID:9536098|RGD:8554872 IAGP RGD:151838589 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13614094 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:126728446 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:126752361 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:126771141 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:126922407 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12897741 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230411 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12898053 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13811114 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151720989 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151753790 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151784969 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151789468 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151796471 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151891326 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:155928819 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:155947267 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:155991957 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:156168525 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:156310094 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:156363982 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:156446670 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:26899040 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38484364 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38491831 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38493044 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:401917416 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:404997343 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:404997887 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:405007370 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:405010010 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:405059816 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:405073434 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:405076158 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:405084600 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:405167164 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:597884008 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:597890069 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:597902421 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:597919940 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:597958244 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:713399659 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:713427596 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:19061337|PMID:23145875|PMID:28492532|RGD:8554872 IAGP RGD:12897857 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:19687230|PMID:28492532|RGD:8554872 IAGP RGD:155716449 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:20031608|PMID:28492532|RGD:8554872 IAGP RGD:13815860 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20221206 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:20817017|PMID:25260352|PMID:25741868|PMID:28492532|PMID:30172029|PMID:30662450|PMID:34163037|PMID:36007726|RGD:8554872 IAGP RGD:8623367 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:22677788|PMID:23677916|PMID:28492532|PMID:32161207|RGD:8554872 IAGP RGD:151234762 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:23174487|PMID:23575362|PMID:23631430|PMID:24728418|PMID:25741868|PMID:28492532|PMID:29016939|PMID:29046645|PMID:30345660|PMID:30530868|PMID:31729605|PMID:32161207|RGD:8554872 IAGP RGD:10044543 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20221206 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:23174487|PMID:23631430|PMID:24728418|PMID:28492532|PMID:29016939|PMID:30345660|RGD:8554872 IAGP RGD:151810788 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:23174487|PMID:23631430|PMID:24728418|PMID:28492532|PMID:30345660|PMID:34999275|RGD:8554872 IAGP RGD:156184523 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:23575362|PMID:24321233|PMID:28492532|RGD:8554872 IAGP RGD:38477595 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:23575362|PMID:28492532|PMID:38849547|RGD:8554872 IAGP RGD:156337576 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:23631430|PMID:28492532|PMID:30369311|RGD:8554872 IAGP RGD:14718792 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250506 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:23677916|PMID:28492532|PMID:28600387|PMID:32161207|RGD:8554872 IAGP RGD:11040002 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:23677916|PMID:28492532|PMID:32161207|RGD:8554872 IAGP RGD:14696505 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:23677916|PMID:28492532|RGD:8554872 IAGP RGD:13476911 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240709 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:23677916|PMID:28492532|RGD:8554872 IAGP RGD:14696506 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:23861362|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8640313 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:24728418|PMID:28492532|PMID:29016939|PMID:30345660|RGD:8554872 IAGP RGD:38477665 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25260352|PMID:25741868|PMID:26253506|PMID:28492532|PMID:29071820|PMID:30025578|PMID:30513141|PMID:30984024|PMID:31430211|PMID:32161207|PMID:33797204|PMID:34163037|RGD:8554872 IAGP RGD:10044537 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25260352|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152027859 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25341504|PMID:25741868|PMID:27711072|PMID:28492532|PMID:30662450|RGD:8554872 IAGP RGD:13503809 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20231107 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25500949|PMID:25741868|PMID:27925203|PMID:28492532|PMID:30345660|RGD:8554872 IAGP RGD:12843722 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25633834|PMID:25741868|PMID:28492532|PMID:28600387|RGD:8554872 IAGP RGD:9832289 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25633834|PMID:28492532|PMID:31408100|RGD:8554872 IAGP RGD:10044906 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25633834|PMID:28492532|RGD:8554872 IAGP RGD:10044882 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20221206 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25633834|PMID:28492532|RGD:8554872 IAGP RGD:13613935 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250211 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25640679|PMID:28492532|RGD:8554872 IAGP RGD:151778236 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25640679|PMID:28492532|RGD:8554872 IAGP RGD:151831159 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25640679|PMID:28492532|RGD:8554872 IAGP RGD:156436276 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:26253506|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207|RGD:8554872 IAGP RGD:12742086 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250506 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:26637798|PMID:28492532|RGD:8554872 IAGP RGD:10044909 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230509 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|PMID:28600387|PMID:33488405|RGD:8554872 IAGP RGD:12900300 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|PMID:29247119|RGD:8554872 IAGP RGD:126767115 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|PMID:29568937|RGD:8554872 IAGP RGD:126755296 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|PMID:31004778|RGD:8554872 IAGP RGD:13796134 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220906 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|PMID:32233023|RGD:8554872 IAGP RGD:10044534 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250211 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|PMID:34495297|RGD:8554872 IAGP RGD:10044585 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|PMID:34999275|RGD:8554872 IAGP RGD:10044562 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250701 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|PMID:35862440|PMID:38254962|RGD:8554872 IAGP RGD:10044536 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|PMID:35885997|RGD:8554872 IAGP RGD:10044904 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|PMID:37227348|RGD:8554872 IAGP RGD:10050154 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10044518 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10044530 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10044546 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230912 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10044561 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10044583 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250701 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10044883 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10044888 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10044890 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10044902 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10044905 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11345011 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11546061 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11547750 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250701 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11550153 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260707 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11551599 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250701 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11551711 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260707 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11604207 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11615215 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11618550 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250506 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11620456 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11641056 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220104 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11641209 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11646071 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126725384 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126756088 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126772685 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250701 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126917943 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127291124 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12846804 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12897793 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12898102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12899756 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12913987 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13465466 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240409 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13465794 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13486306 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13490102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13521646 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230509 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13805316 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20231212 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13808079 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13813414 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250701 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13819361 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13821405 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14711888 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14717581 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14719969 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14719971 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14726491 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14728693 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14730972 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14743272 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15112980 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210907 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15112987 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15113013 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15113522 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15113921 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15114243 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15114266 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15114272 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15114292 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15114434 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15114683 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15115434 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15135384 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15136215 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15142800 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15148604 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250701 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151724818 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151772110 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151798623 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230110 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151800852 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20231010 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151821984 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250701 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156297695 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:21072321 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241210 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26895721 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20231107 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26906600 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220118 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26922342 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38459168 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20231212 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38461750 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38478981 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250708 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38497972 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:39456214 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401873369 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240611 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401922994 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401948224 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597960763 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250506 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8634631 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240409 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8640329 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241008 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8690369 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8690378 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9692736 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260707 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:25741868|RGD:8554872 IAGP RGD:13208187 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:26220970|PMID:28492532|RGD:8554872 IAGP RGD:26894582 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20231107 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:26551885|PMID:28492532|RGD:8554872 IAGP RGD:151783978 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240709 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:26637798|PMID:28492532|PMID:35205252|RGD:8554872 IAGP RGD:151843649 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240507 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:27930701|PMID:28492532|RGD:8554872 IAGP RGD:13801621 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20221206 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:28878402|RGD:8554872 IAGP RGD:12897952 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210810 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:30067485|RGD:8554872 IAGP RGD:10044550 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:30847666|PMID:40526200|RGD:8554872 IAGP RGD:11617556 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:30847666|RGD:8554872 IAGP RGD:11624446 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20221206 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:31539150|RGD:8554872 IAGP RGD:11609729 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20221206 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:31737537|RGD:8554872 IAGP RGD:10044900 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220607 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:31737537|RGD:8554872 IAGP RGD:13705654 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:32161207|RGD:8554872 IAGP RGD:150427866 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240202 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:32161207|RGD:8554872 IAGP RGD:714002472 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:33191761|RGD:8554872 IAGP RGD:10044577 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:33203140|RGD:8554872 IAGP RGD:155726195 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:33488405|RGD:8554872 IAGP RGD:405001181 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:34079577|RGD:8554872 IAGP RGD:404980658 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:34163037|RGD:8554872 IAGP RGD:150549929 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:34163037|RGD:8554872 IAGP RGD:151870742 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230509 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:34999275|RGD:8554872 IAGP RGD:13485125 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:36436328|RGD:8554872 IAGP RGD:126914040 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|PMID:38849547|RGD:8554872 IAGP RGD:38487954 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250211 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044539 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044540 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044541 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044542 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044545 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044547 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044553 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044554 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044560 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044565 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044578 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044886 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044887 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044889 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044891 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044892 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044895 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044897 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044899 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044903 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10044907 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:10050902 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11349449 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11351507 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11544097 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11545729 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11546030 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11546650 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11547752 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11550179 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11581585 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11602640 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11603950 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11606043 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11607796 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11607828 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11611706 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11614186 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11618800 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11619865 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11620597 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11620794 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11620828 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11621453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11623855 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11659456 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11659950 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:11663242 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126725141 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126725350 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126726431 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126730202 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126732222 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126732315 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126732840 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126736475 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126740240 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126740332 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126740888 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126744211 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126746236 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126747921 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126748549 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126751689 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126754771 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126756320 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126757239 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126757818 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126764110 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126765870 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126766942 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126768119 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126770180 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126771119 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126772316 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126772705 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126774959 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126908464 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126914922 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126915960 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126916040 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126917140 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126917272 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126918055 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126920664 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126922406 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126923609 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126923902 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126924106 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:126924824 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127232381 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127232735 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127233709 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127234978 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127237122 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127238859 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127239446 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127239701 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127240564 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127241171 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127241663 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127245695 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127247241 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127248588 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127248673 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127249123 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127250254 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127250279 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127252774 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127253910 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127254009 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127254173 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127254717 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127255873 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127256647 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127256918 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127258313 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127260138 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127260605 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127260743 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127262343 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127262375 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127262722 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127264811 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127266723 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127267352 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127269117 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127270664 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127275625 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127276366 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127276849 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127276896 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127277585 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127277589 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127278168 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127278843 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127279384 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127279932 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127280169 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127281693 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127282615 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127283736 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127286668 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127289448 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127290061 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127290271 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127291419 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127293024 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127293710 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127293810 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127294852 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127296621 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127297631 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127298079 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127298982 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127300071 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127301498 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127301851 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127302087 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127305795 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127309443 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127310604 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127310980 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127311876 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127312380 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127314263 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127315230 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127316425 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127316729 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127319038 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127320303 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127322427 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127324862 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127326018 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127328104 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127328562 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127328608 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127329098 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127329715 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127329925 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127330061 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127330110 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127330901 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127331347 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127331931 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127333086 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127333516 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127336385 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:127336764 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12834750 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12838132 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12838676 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12843281 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12843335 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12845367 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12846110 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12846974 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12847828 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897010 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897113 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897131 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897167 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897191 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897209 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897226 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897384 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897407 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897524 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897546 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897576 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897591 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897601 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897637 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897836 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897876 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12897942 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12898072 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12898219 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12898284 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12898293 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12898316 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12898356 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12898377 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12898384 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12898387 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12901009 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12901271 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:12901928 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13212056 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13466776 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13468461 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13472426 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13474829 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13476010 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13476793 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13477228 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13480721 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13483005 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13483431 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13483650 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13484382 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13486194 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13486638 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13487064 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13487740 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13489570 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13492277 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13492478 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13493915 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13494687 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13495437 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13495949 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13498619 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13502469 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13504090 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13504273 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13521484 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13528642 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13528859 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13529829 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13529990 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13533238 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13533649 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13534599 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13535055 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13613926 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13613945 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13613959 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13613978 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13613979 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13613987 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13613990 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614000 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614019 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614025 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614026 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614064 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614073 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614111 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614147 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614153 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614155 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614156 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614163 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614172 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614179 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614181 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614196 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614197 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614209 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614242 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614244 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614247 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614250 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614257 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614265 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614282 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614283 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614366 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13614368 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13705539 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13705671 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13801335 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13806605 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13810484 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13814442 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13814594 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13814786 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13815382 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13816421 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13816934 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13819586 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13821110 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13821410 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13829227 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13829257 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13829359 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13829603 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13829687 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13830345 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:13830360 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210406 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14701164 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14706572 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14707895 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14709489 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14711893 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14713332 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14714367 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14718306 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14719957 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14719966 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14719990 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14720362 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14720367 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14720376 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14720377 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14720379 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14720385 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14720875 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14721390 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14723244 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14724692 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14725645 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14725877 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14726688 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14728633 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14728696 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14728738 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14728858 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14729937 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14730560 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14732426 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14732748 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14733385 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14734609 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14734611 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14735272 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14739431 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14741630 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14743647 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14745194 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14745477 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14745479 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14745481 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14745485 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14745487 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14745488 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14745489 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14745492 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14745493 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:14745494 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:150339408 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:150429428 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:150479993 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:150480638 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:150489248 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:150490059 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:150498582 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:150507102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:150531094 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:150552442 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:150554228 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15097816 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15099673 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15099695 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15101027 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15101869 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15102307 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15102906 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15103842 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15107864 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15109988 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15110552 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15112969 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15112994 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15113005 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15113637 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15113704 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15113995 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15114002 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15114234 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15114250 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15114261 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15114282 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15114301 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15114421 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15114427 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15114516 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15114600 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15114696 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15114749 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15114924 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15114931 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15114991 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15115119 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15115228 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15115235 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15115401 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15115860 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15116332 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15116550 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15117106 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15118140 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15118150 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15118154 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15118162 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15118985 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15119389 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15121030 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15121365 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15121878 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15122062 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15122481 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151235053 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15123662 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15124117 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15124330 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15124477 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15124661 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15125291 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15125707 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15126409 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15126411 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15128006 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15128158 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15129926 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15131271 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15132238 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15132286 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15133439 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15135364 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15135370 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250729 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15135715 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15136224 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15136905 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15137237 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15137376 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15137531 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15137594 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15139178 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15141354 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15141463 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15141693 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15143176 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15143522 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15143897 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15145146 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15146403 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15148132 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15148879 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15152376 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15154436 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15156297 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15158301 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15158609 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15158637 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15159337 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15160361 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15161092 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15162308 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15165910 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151667629 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220412 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15170634 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15170768 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151711311 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151723986 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151726163 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151726781 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151733584 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151740408 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151743608 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151749119 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151751096 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151751276 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151755399 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151755595 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151758804 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151759532 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151760373 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151760412 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151769935 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151773403 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151774773 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151777307 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151780226 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151781042 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151784004 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151785059 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151785402 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151787711 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15178913 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151789678 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151790081 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151790744 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151793151 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151794071 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151796031 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151799312 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151799960 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151801248 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151801970 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151809160 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151811146 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151812238 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151815288 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151815960 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151817828 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151818080 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15182166 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151822972 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151823926 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151824939 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151826802 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151828340 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151829836 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151831171 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151833271 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151837037 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151838425 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151839522 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15184107 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151841133 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151842628 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151847413 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151850645 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151856358 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151857295 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151860950 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151862994 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151866275 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151866761 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151868956 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151875513 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151877419 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151881584 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151882736 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:151892105 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220420 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15190671 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15191165 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15191671 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15195400 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15198133 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15198390 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210706 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15198660 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15202185 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152025932 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:15202599 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210608 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152026606 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152026688 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152027272 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152027393 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152027473 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152028916 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152030197 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152030672 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152033392 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152033797 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152034322 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152035079 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152035875 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152036080 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152036289 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152036584 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152036820 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152037024 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152039699 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152040954 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152042091 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152042206 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152042581 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152042718 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152043103 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152044300 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152045618 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152046921 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152047598 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152048364 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152050422 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152051666 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152051872 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152054409 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152054819 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152055256 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152055302 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152056812 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152061162 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152062884 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152066116 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152066823 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152066941 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152067474 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152067695 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152067949 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152067978 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152067979 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152069810 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152070732 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152070889 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152072552 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152074637 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152074674 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152074849 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152075471 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152076070 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152076362 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152076697 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152078782 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152078881 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152079608 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152081246 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152081282 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152082179 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152085069 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152085505 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152085674 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152086358 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152087903 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152088589 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152088938 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152090373 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152091439 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152092224 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152092381 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152092850 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152095547 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152095800 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152096593 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152096971 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152097587 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152100865 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152101024 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152101143 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152101468 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152105372 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152109109 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152110332 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152110347 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152110856 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152110862 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152113863 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152113996 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152115277 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152115699 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152116225 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152117024 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152117365 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152117457 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152119089 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152119262 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152121307 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152122469 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152123111 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152123260 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152123304 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152127475 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152127625 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152128315 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152129459 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152130388 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152130665 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152131073 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152131376 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152131583 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152137035 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152137290 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152138005 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152140085 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152140369 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152141177 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152141523 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152141658 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152143389 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152144418 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152144424 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152147587 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152148960 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152149431 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152150179 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152151193 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152151653 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152151736 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152151937 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152151940 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152152273 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152153814 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152154923 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152155323 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152156044 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152157318 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152158296 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152158941 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152160912 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152161070 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152161593 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152161915 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152162230 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152162467 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152162704 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152163622 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152163803 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152163977 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152165495 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152167562 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152167652 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152169578 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152170730 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152170826 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152170895 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152171416 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152172916 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152173073 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152173553 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152174073 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152174679 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152176129 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:152176440 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220510 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:153000273 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:153301929 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:153301963 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:153304245 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155664235 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155664488 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155664876 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155667043 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155667717 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155676105 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155676492 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155677760 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20221206 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155686636 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155688978 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155691847 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155693422 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155695728 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20221206 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155695928 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20221206 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155700303 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155700737 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155702530 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20221206 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155707447 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155709743 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155710675 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155715486 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155721921 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155722754 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155726151 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155726304 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155727156 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155728120 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155730923 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155732106 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155732135 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155732268 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155732796 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155734005 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155734876 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155736707 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155738904 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155742431 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155750018 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20221206 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155797624 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155904628 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155908264 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155935428 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155940654 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155942842 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155949495 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155950428 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155952239 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155952831 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155955654 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155960540 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155961725 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155964282 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155970181 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155972950 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155973879 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155975300 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155978680 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155980765 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155980854 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155986289 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:155988511 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156003915 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156008522 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156008882 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156009551 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156011240 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156011543 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156012856 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156013601 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156015245 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156016079 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156019580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156021093 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156022043 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156023352 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156025870 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156027408 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156027922 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156029629 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156030339 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156038507 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156045732 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156046913 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156053239 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156054018 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156055888 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156059056 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156059390 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156060108 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156066774 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156066796 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156070838 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156072765 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156077073 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156078877 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156079787 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156081556 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156081663 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156084166 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156087602 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156090155 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156091171 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156091457 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156100012 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156109024 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156109524 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156110643 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156111962 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156114565 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156116632 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156117743 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156118974 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156123209 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156125081 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156125850 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156130342 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156137172 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156139693 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156153280 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156154505 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156156917 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156162976 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156174159 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156178600 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156181083 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156182011 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156188059 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156188302 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156188772 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156189770 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156190859 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156194821 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156195214 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20241112 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156198492 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156202380 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156205909 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156206250 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156212115 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156213349 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156215542 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156221427 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156236270 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156249477 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156270277 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156279604 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156289778 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156289889 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156291276 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156292820 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156297180 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156305385 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156305758 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156309161 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156315938 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156317432 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156321272 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156322075 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156322476 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156323279 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156332043 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156338581 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156346244 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156347845 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156353638 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156355304 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156355438 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156361347 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156364459 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156364979 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156365232 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156366745 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156368824 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156369045 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156369493 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156372005 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156372633 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156372654 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156372826 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156377239 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156386154 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156392566 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156392972 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156394832 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156396411 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156397790 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156399596 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156401722 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156402671 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156403118 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156403588 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156404232 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156404837 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156404990 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156407383 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156409135 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156409324 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156412045 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156413619 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156413764 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156416422 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230214 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156436272 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156436275 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156436277 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156436278 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156436901 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156437329 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156439096 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156442576 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156442711 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156448507 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:156449316 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230307 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26884981 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26885016 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26886938 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26889673 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26890772 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26891169 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26891177 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26892537 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26895742 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26896043 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26896178 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26897286 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26899181 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26902792 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26905722 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26909926 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26912082 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26914326 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26916212 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26917730 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26918471 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26922287 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26922687 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:26923603 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:329386224 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:329386228 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:329846810 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:329848547 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38463018 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38463764 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38465436 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38465596 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38468583 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38473089 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38479685 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38480972 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38482072 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38483177 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38483668 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38486316 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38486471 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38488247 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38489828 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38489913 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:38497372 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:39458112 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:401796430 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:401796564 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:401862375 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:401862377 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:401869134 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:401869139 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:402469959 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240312 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:402478076 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240312 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:402478801 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240312 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:402485172 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240312 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:402492259 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240312 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:402499570 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240312 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:402523222 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240312 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:402525220 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240312 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:402525355 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240312 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:404980998 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:404995810 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:404996175 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:404996328 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:404996359 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:404997661 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:404998158 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:404998209 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:404998511 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:404998522 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:404998671 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:404998690 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:404998989 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:404999038 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405000253 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405000279 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405000426 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405000534 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405000768 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405001095 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405001135 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405002085 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405002391 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405002490 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405002629 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405002719 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405002795 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405002818 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405002829 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405002912 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405003013 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405003128 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405003148 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405003158 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405003179 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405003245 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405003377 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405003559 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405003618 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405003648 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405003702 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405003773 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405003793 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405004056 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405004078 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405004099 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405004204 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405004231 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405004325 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405004464 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405004684 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405004741 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405004798 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405004828 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405004841 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405005008 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405005360 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405005369 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405005421 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405005523 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405005579 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405005631 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405005739 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405005787 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405005890 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405006197 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405006381 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405006461 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405006523 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405006567 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405006577 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405006636 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405006649 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405006717 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405006735 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405006806 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405006936 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405007025 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405007085 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405007097 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405007154 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405007187 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405007232 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405007283 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405007351 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405007435 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405007512 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405007566 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405007731 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405007801 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008154 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008253 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008321 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008370 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008420 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008519 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008554 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008562 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008584 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008651 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008662 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008786 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008909 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008930 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008943 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405008988 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405009000 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405009140 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405009277 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405009350 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405009367 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405009671 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405010255 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405010366 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405010375 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405010437 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405010464 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405010545 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405010654 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405010681 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405010767 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405011368 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405011538 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405011568 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405011579 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405011883 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405012041 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405013386 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405013442 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405018347 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405027300 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405039123 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405043619 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405053888 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405054000 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405054331 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405054369 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405054446 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405054601 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405054865 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405054919 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405054932 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405055105 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405055159 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405056001 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405056312 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405056771 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405056832 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405056857 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405057054 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405057128 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405057157 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405057364 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405057821 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405057898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405057910 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405057974 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405057988 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405058023 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405058535 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405058617 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405058808 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405058995 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405059015 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405059048 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405059267 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405059438 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405059620 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405059895 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405061954 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405062004 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405062057 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405062066 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405062297 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405062572 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405062583 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405062789 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405062908 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405062929 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405063131 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405064010 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405067626 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405073411 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405073715 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405074018 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405074033 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405074163 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405074336 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405074939 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405075032 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405075649 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405075869 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405076008 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405076360 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405076859 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405077122 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405077147 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405077172 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405077206 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405077630 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405078082 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405078444 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405078595 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405078704 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405078714 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405078938 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405079277 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405079913 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405085376 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405091811 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405092662 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405094676 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240319 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405117110 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405128272 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405130247 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405143072 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405147336 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405151315 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405153504 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405155793 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405161964 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405162318 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405172661 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405177529 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405184287 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405188849 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405192839 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405201559 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405208813 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405212625 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405216797 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405221325 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405243020 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405255099 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405291250 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405700771 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405700789 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405700793 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405700845 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405871714 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240709 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405871718 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240709 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405871721 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240709 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:405871724 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240709 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:407424822 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:407496728 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:40816442 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240403 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:408366230 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:596943747 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597720889 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597720932 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597830644 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597831312 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597832273 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597833647 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597833803 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597838519 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597838547 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597840919 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597843806 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597845534 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597846250 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597847913 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597849390 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597851515 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597852265 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597852805 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597854490 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597856259 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597857449 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597857495 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597858366 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597859046 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597859085 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597860119 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597861388 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597862264 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597862476 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597865596 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597865752 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597867530 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597868098 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597868202 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597868334 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597868757 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597869259 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597872403 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597872698 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597872808 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597872846 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597872932 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597872967 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597873115 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597873162 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597873221 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597873222 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597873296 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597873705 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597876091 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597876605 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597876628 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597876861 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597877968 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597878428 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597878927 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597880251 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597882569 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597883712 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597884191 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597887201 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597888253 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597889423 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597890988 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597891051 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597891632 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597892330 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597894390 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597894628 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597897129 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597897415 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597897423 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597897433 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597899135 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597899524 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597899846 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597899867 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597900177 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597900213 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597901623 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597902332 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597902447 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597903161 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597903401 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597903569 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597903709 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597904143 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597904404 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597905221 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597905336 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597905510 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597905853 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597906393 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597906440 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597906565 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597906845 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597907532 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597907768 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597911953 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597912763 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597915717 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597916574 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597916584 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597917635 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597917916 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597918433 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597918458 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597919950 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597920599 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597920845 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597921097 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597921857 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597922631 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597923074 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597923843 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597925216 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597925318 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597925331 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597926170 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597927204 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597927798 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597928288 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597931404 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597931686 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597931831 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597932591 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597933680 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597933906 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597934207 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597934718 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597934952 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597935847 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597936004 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597937056 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597937471 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597937873 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597938241 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597939127 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597940647 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597941665 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597942244 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597942278 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597943193 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597943557 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597943562 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597944074 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597944158 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597944184 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597945215 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597945626 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597947313 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597947833 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597949235 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597949498 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597949860 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597950398 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597950929 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597951729 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597952218 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597952366 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597952628 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597952795 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597953413 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597953796 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597954129 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597954587 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597955739 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597956501 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597956583 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597957931 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597957965 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597957995 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597959145 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597959390 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597959912 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597962100 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597962714 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597963957 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597964813 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597965750 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597965765 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597966504 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597967418 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597968207 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597968248 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597968724 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597969004 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597969334 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597969793 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597970451 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597970709 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597974068 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597975030 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:597975771 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250311 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713391812 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713392120 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713393411 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713394572 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713400401 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713421298 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713422431 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713426228 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713431532 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713432050 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713436182 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713438146 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713438164 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713441040 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713441059 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713445179 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713472987 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713514419 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713520462 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713520537 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713531799 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713556976 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713561950 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713590922 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713591605 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713591670 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713592178 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713593307 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713600483 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713616126 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713616870 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713620161 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713627104 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713636138 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713636511 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713638121 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713639239 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713640424 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713641529 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713645859 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713645938 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713647009 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713648145 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713654613 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713663736 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713713593 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713717500 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713719626 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713719648 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713719677 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713719702 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713719782 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713719810 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713719873 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713719900 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713719944 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713719977 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713720006 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713720033 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713720055 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713720079 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713720118 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713720173 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713754722 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713764247 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713769260 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713773578 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713782211 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713783644 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713785940 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713794771 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713796937 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713815258 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713816999 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713818057 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713818307 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713821396 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713824068 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713826241 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713836043 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713840118 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713845594 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713847187 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713847940 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713848824 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713851985 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713865224 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713899219 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713948590 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713952111 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713952414 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713959787 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:713998179 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714001441 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714004282 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714007460 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714018436 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714020842 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714022226 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714026523 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714026708 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714028018 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714029005 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714031377 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714033073 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714036572 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714038985 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714040176 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714050555 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714052885 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714066577 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714069982 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714072240 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714073234 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714077063 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714077515 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714081439 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714113439 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714123180 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714127854 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714128725 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714129576 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714132036 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714136369 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714140462 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714141771 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714143579 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714143817 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714148422 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714149617 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714153866 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714154953 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714158225 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714159122 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714168745 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714174025 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714178570 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714181760 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714188261 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714191594 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714218380 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714218448 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714220265 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714261344 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714264502 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714267116 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714274924 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:714280939 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:8690367 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260707 ClinVar RGD 10268 CACNA1C HP:0001657 RGD:8554872 IAGP RGD:126735463 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 RGD:8554872 IAGP RGD:126756282 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 RGD:8554872 IAGP RGD:126770182 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210511 ClinVar RGD 10268 CACNA1C HP:0001657 RGD:8554872 IAGP RGD:405854664 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240611 ClinVar RGD 10268 CACNA1C HP:0001662 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001663 MIM:618447|ORPHA:130|PMID:24728418|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001664 ORPHA:101016|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250904 HPO RGD 10268 CACNA1C HP:0001678 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001688 MIM:618447|ORPHA:101016|PMID:23677916|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001695 ORPHA:130|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10268 CACNA1C HP:0001699 MIM:601005|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10268 CACNA1C HP:0001734 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11345011 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001760 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0001761 PMID:25741868|RGD:8554872 IAGP RGD:405257102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001762 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001763 MIM:620029|PMID:34163037|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001787 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0001852 PMID:25741868|RGD:8554872 IAGP RGD:405257102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001939 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12898102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0001943 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0001999 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0002002 PMID:25741868|RGD:8554872 IAGP RGD:151713486 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002007 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002015 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002019 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002019 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002019 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002020 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002025 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002031 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0002045 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002058 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002058 PMID:25741868|RGD:8554872 IAGP RGD:405257102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002061 MIM:620029|PMID:34163037|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002069 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002069 RGD:8554872 IAGP RGD:597832621 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002080 MIM:620029|PMID:34163037|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002086 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0002087 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0002089 RGD:8554872 IAGP RGD:13531382 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002090 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002092 MIM:601005|MIM:620029|PMID:15454078|PMID:29736926|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002121 RGD:8554872 IAGP RGD:597832621 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002133 PMID:25741868|RGD:8554872 IAGP RGD:405257102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002151 RGD:8554872 IAGP RGD:713691879 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002172 MIM:620029|PMID:34163037|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002194 MIM:620029|PMID:29736926|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002209 MIM:620029|PMID:29736926|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002247 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11345011 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002307 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002353 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002353 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0002374 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002376 PMID:25741868|RGD:8554872 IAGP RGD:401828965 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002376 PMID:25741868|RGD:8554872 IAGP RGD:405257102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002474 PMID:25741868|RGD:8554872 IAGP RGD:401798346 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002579 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0002600 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002650 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002673 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002705 PMID:10343407|PMID:20543828|PMID:22020278|PMID:25741868|RGD:8554872 IAGP RGD:13530222 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002705 PMID:25741868|RGD:8554872 IAGP RGD:151713486 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002714 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002719 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002719 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0002721 MIM:618447|PMID:24728418|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002751 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0002870 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0002900 ORPHA:101016|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10268 CACNA1C HP:0002901 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0003011 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0003186 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0003287 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0003581 MIM:618447|PMID:24728418|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0003593 MIM:620029|PMID:29736926|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0003621 MIM:618447|PMID:24728418|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0003623 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0004209 PMID:25741868|RGD:8554872 IAGP RGD:243059235 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0004209 PMID:25741868|RGD:8554872 IAGP RGD:401798346 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0004308 MIM:611875|ORPHA:101016|ORPHA:130|PMID:17224476|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0004308 PMID:25741868|RGD:8554872 IAGP RGD:401855666 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:243059235 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0004322 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0004378 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0004751 ORPHA:130|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10268 CACNA1C HP:0004755 ORPHA:130|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10268 CACNA1C HP:0004756 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0004756 PMID:25741868|PMID:28492532|PMID:29396561|RGD:8554872 IAGP RGD:13472192 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20240507 ClinVar RGD 10268 CACNA1C HP:0004808 RGD:8554872 IAGP RGD:714042114 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0004808 RGD:8554872 IAGP RGD:714047472 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0004808 RGD:8554872 IAGP RGD:714047518 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0005110 MIM:611875|PMID:17224476|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0005110 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11618550 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0005135 ORPHA:101016|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10268 CACNA1C HP:0005157 PMID:25741868|RGD:8554872 IAGP RGD:41407753 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0005184 MIM:618447|ORPHA:101016|PMID:23677916|PMID:24728418|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0005184 RGD:8554872 IAGP RGD:150452895 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0005280 MIM:601005|MIM:620029|PMID:15454078|PMID:29736926|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0005709 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0005957 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0006380 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0006682 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0006829 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0007010 PMID:25741868|RGD:8554872 IAGP RGD:41407796 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0007015 PMID:25741868|RGD:8554872 IAGP RGD:41407796 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0007018 MIM:620029|PMID:34163037|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0007030 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0007359 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0007359 PMID:25741868|RGD:8554872 IAGP RGD:151713486 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0007514 PMID:10343407|PMID:20543828|PMID:22020278|PMID:25741868|RGD:8554872 IAGP RGD:13530222 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0007616 PMID:25741868|RGD:8554872 IAGP RGD:401798346 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0007885 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0007946 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11345011 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0008070 PMID:25741868|RGD:8554872 IAGP RGD:243059235 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0008081 MIM:620029|PMID:34163037|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0008763 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0008897 MIM:620029|PMID:29736926|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0008936 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0008936 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0009127 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260707 ClinVar RGD 10268 CACNA1C HP:0009748 PMID:25741868|RGD:8554872 IAGP RGD:243059235 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0009890 PMID:25741868|RGD:8554872 IAGP RGD:151713486 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0010307 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0010536 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0010805 PMID:25741868|RGD:8554872 IAGP RGD:151713486 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0010852 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0010862 RGD:8554872 IAGP RGD:15015291 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0010863 PMID:25741868|RGD:8554872 IAGP RGD:401798346 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0010864 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11345011 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0010864 PMID:25741868|RGD:8554872 IAGP RGD:151713486 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0010878 RGD:8554872 IAGP RGD:405745693 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0010880 RGD:8554872 IAGP RGD:405745693 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0010942 RGD:8554872 IAGP RGD:405745693 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0011034 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13811942 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0011097 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0011203 RGD:8554872 IAGP RGD:401948560 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0011297 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0011343 PMID:25741868|RGD:8554872 IAGP RGD:41407796 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0011344 PMID:25741868|RGD:8554872 IAGP RGD:10044898 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0011426 RGD:8554872 IAGP RGD:405745693 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0011443 PMID:25741868|RGD:8554872 IAGP RGD:41407796 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0011443 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0011446 RGD:8554872 IAGP RGD:408393605 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0011471 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0011565 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11345011 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0011623 PMID:25741868|RGD:8554872 IAGP RGD:151713486 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0011675 PMID:25260352|PMID:25741868|PMID:26253506|PMID:28492532|PMID:29071820|PMID:30025578|PMID:30513141|PMID:30984024|PMID:31430211|PMID:32161207|PMID:33797204|PMID:34163037|RGD:8554872 IAGP RGD:10044537 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0011675 PMID:25741868|PMID:26253506|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207|RGD:8554872 IAGP RGD:12742086 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250506 ClinVar RGD 10268 CACNA1C HP:0011704 ORPHA:130|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10268 CACNA1C HP:0011705 ORPHA:130|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10268 CACNA1C HP:0011712 ORPHA:130|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10268 CACNA1C HP:0011715 ORPHA:130|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10268 CACNA1C HP:0011804 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0011939 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0011968 PMID:25741868|RGD:8554872 IAGP RGD:243059235 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0011968 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0011968 RGD:8554872 IAGP RGD:713691879 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0012126 RGD:8554872 IAGP RGD:713623716 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0012172 PMID:25741868|RGD:8554872 IAGP RGD:401828965 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0012232 MIM:611875|PMID:17224476|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0012251 ORPHA:130|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10268 CACNA1C HP:0012272 MIM:611875|PMID:17224476|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0012332 ORPHA:101016|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10268 CACNA1C HP:0012385 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0012387 MIM:601005|PMID:15454078|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0012389 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0012391 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0012469 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0012638 RGD:8554872 IAGP RGD:408393605 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0012725 MIM:601005|MIM:620029|PMID:15454078|PMID:29736926|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0012758 PMID:25741868|PMID:34163037|RGD:8554872 IAGP RGD:150547593 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220104 ClinVar RGD 10268 CACNA1C HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:153348434 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220906 ClinVar RGD 10268 CACNA1C HP:0012759 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12898102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0012759 PMID:25741868|RGD:8554872 IAGP RGD:153346655 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20220906 ClinVar RGD 10268 CACNA1C HP:0012759 RGD:8554872 IAGP RGD:408393605 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0012759 RGD:8554872 IAGP RGD:40889586 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20210323 ClinVar RGD 10268 CACNA1C HP:0012808 PMID:25741868|RGD:8554872 IAGP RGD:151713486 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0025268 RGD:8554872 IAGP RGD:401948560 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0030359 RGD:8554872 IAGP RGD:713838499 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0030680 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11345011 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0031628 MIM:618447|PMID:23677916|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0032792 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0032794 MIM:620029|PMID:30513141|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20250912 HPO RGD 10268 CACNA1C HP:0032892 PMID:25741868|RGD:8554872 IAGP RGD:405257102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0033676 PMID:32332995|RGD:8554872 IAGP RGD:155804107 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230425 ClinVar RGD 10268 CACNA1C HP:0045075 PMID:25741868|RGD:8554872 IAGP RGD:243059235 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0100022 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0100242 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15114243 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0100242 RGD:8554872 IAGP RGD:713838635 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0100242 RGD:8554872 IAGP RGD:713838722 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0100309 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12898102 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0100522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15114243 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0100526 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15114243 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0100543 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0100543 RGD:8554872 IAGP RGD:408393605 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0100543 RGD:8554872 IAGP RGD:597832621 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0100704 PMID:25741868|RGD:8554872 IAGP RGD:13528453 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260519 ClinVar RGD 10268 CACNA1C HP:0200136 RGD:8554872 IAGP RGD:13489580 H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20260602 ClinVar RGD 10268 CACNA1C HP:0500018 ORPHA:101016|RGD:8699517 IAGP H calcium voltage-gated channel subunit alpha1 C gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0000006 MIM:145980|MIM:239200|MIM:601198|MIM:612899|PMID:18756473|PMID:7673400|PMID:7874174|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20251023 HPO RGD 10291 CASR HP:0000007 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20260209 HPO RGD 10291 CASR HP:0000014 PMID:28492532|PMID:34906475|RGD:8554872 IAGP RGD:14705554 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000014 PMID:28492532|RGD:8554872 IAGP RGD:13806514 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000077 PMID:18938753|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13479992 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000080 PMID:28492532|PMID:34906475|RGD:8554872 IAGP RGD:14705554 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000103 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0000121 MIM:601198|ORPHA:428|PMID:8733126|PMID:8813042|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0000121 PMID:25506941|PMID:25741868|PMID:34194040|RGD:8554872 IAGP RGD:407476338 H calcium sensing receptor gene taxon:9606 20260616 ClinVar RGD 10291 CASR HP:0000121 PMID:25741868|RGD:8554872 IAGP RGD:8597882 H calcium sensing receptor gene taxon:9606 20260602 ClinVar RGD 10291 CASR HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:13806514 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000306 PMID:28492532|RGD:8554872 IAGP RGD:13806514 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000366 PMID:28492532|PMID:34906475|RGD:8554872 IAGP RGD:14705554 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000540 PMID:28492532|PMID:34906475|RGD:8554872 IAGP RGD:14705554 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000545 PMID:28492532|PMID:34906475|RGD:8554872 IAGP RGD:14705554 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:13806514 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000648 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0000708 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0000712 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0000716 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0000739 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0000739 PMID:22192860|PMID:25741868|PMID:28492532|PMID:29846619|PMID:35242665|RGD:8554872 IAGP RGD:11350407 H calcium sensing receptor gene taxon:9606 20260707 ClinVar RGD 10291 CASR HP:0000750 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126753096 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000774 MIM:239200|ORPHA:417|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20260209 HPO RGD 10291 CASR HP:0000787 MIM:145980|MIM:601198|PMID:8813042|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0000795 PMID:28492532|PMID:34906475|RGD:8554872 IAGP RGD:14705554 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000819 ORPHA:676|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0000820 ORPHA:417|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0000829 PMID:10935495|PMID:20501971|PMID:20668040|PMID:21645025|PMID:22422767|PMID:23186954|PMID:25071082|PMID:25741868|PMID:26467025|PMID:26646938|PMID:28492532|PMID:35459864|PMID:8698326|PMID:8813042|PMID:8878438|RGD:8554872 IAGP RGD:8597865 H calcium sensing receptor gene taxon:9606 20260707 ClinVar RGD 10291 CASR HP:0000829 PMID:11701698|PMID:15201280|PMID:25741868|PMID:33112267|RGD:8554872 IAGP RGD:39456643 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000829 PMID:25506941|PMID:25741868|PMID:34194040|RGD:8554872 IAGP RGD:407476338 H calcium sensing receptor gene taxon:9606 20260616 ClinVar RGD 10291 CASR HP:0000836 PMID:28492532|PMID:32347971|RGD:8554872 IAGP RGD:14746792 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000843 MIM:145980|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0000843 PMID:19179454|PMID:25741868|RGD:8554872 IAGP RGD:150451528 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000848 MIM:601198|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0000859 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126753096 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0000944 ORPHA:417|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0000952 ORPHA:676|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0000958 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0000964 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0001072 PMID:28492532|PMID:34906475|RGD:8554872 IAGP RGD:14705554 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0001231 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0001250 MIM:601198|MIM:612899|PMID:18756473|PMID:8733126|PMID:8813042|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0001250 PMID:22192860|PMID:25741868|PMID:28492532|PMID:29846619|PMID:35242665|RGD:8554872 IAGP RGD:11350407 H calcium sensing receptor gene taxon:9606 20260707 ClinVar RGD 10291 CASR HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:8597882 H calcium sensing receptor gene taxon:9606 20260602 ClinVar RGD 10291 CASR HP:0001252 MIM:239200|ORPHA:417|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20260209 HPO RGD 10291 CASR HP:0001281 MIM:601198|PMID:7874174|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0001290 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0001336 MIM:612899|PMID:18756473|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0001508 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0001596 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0001597 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0001635 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0001639 PMID:15591042|PMID:17284438|PMID:19389809|PMID:19779033|PMID:22798347|PMID:23372019|PMID:25741868|PMID:26467025|PMID:26963950|PMID:28492532|PMID:8675635|PMID:8878438|RGD:8554872 IAGP RGD:12741916 H calcium sensing receptor gene taxon:9606 20231212 ClinVar RGD 10291 CASR HP:0001733 MIM:145980|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0001744 MIM:239200|ORPHA:417|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250416 HPO RGD 10291 CASR HP:0001877 PMID:28492532|PMID:34906475|RGD:8554872 IAGP RGD:14705554 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0001903 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20251023 HPO RGD 10291 CASR HP:0001959 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0001974 ORPHA:676|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0002019 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0002019 PMID:19915295|PMID:20668040|PMID:21645025|PMID:24823460|PMID:29636377|RGD:8554872 IAGP RGD:40887129 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0002027 ORPHA:428|ORPHA:676|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250416 HPO RGD 10291 CASR HP:0002069 MIM:612899|PMID:18756473|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0002069 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597922031 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0002094 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0002099 PMID:28492532|PMID:34906475|RGD:8554872 IAGP RGD:14705554 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0002121 MIM:612899|PMID:18756473|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0002135 MIM:601198|PMID:8733126|PMID:8813042|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0002135 PMID:25506941|PMID:25741868|PMID:34194040|RGD:8554872 IAGP RGD:407476338 H calcium sensing receptor gene taxon:9606 20260616 ClinVar RGD 10291 CASR HP:0002148 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0002150 MIM:145980|MIM:239200|MIM:601198|ORPHA:428|PMID:8813042|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0002240 MIM:239200|ORPHA:417|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250416 HPO RGD 10291 CASR HP:0002242 PMID:28492532|PMID:34906475|RGD:8554872 IAGP RGD:14705554 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0002242 PMID:28492532|RGD:8554872 IAGP RGD:13806514 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0002300 PMID:22192860|PMID:25741868|PMID:28492532|PMID:29846619|PMID:35242665|RGD:8554872 IAGP RGD:11350407 H calcium sensing receptor gene taxon:9606 20260707 ClinVar RGD 10291 CASR HP:0002354 PMID:28492532|RGD:8554872 IAGP RGD:13806514 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0002356 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0002373 MIM:612899|PMID:18756473|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0002373 PMID:25506941|PMID:25741868|PMID:34194040|RGD:8554872 IAGP RGD:407476338 H calcium sensing receptor gene taxon:9606 20260616 ClinVar RGD 10291 CASR HP:0002384 MIM:612899|PMID:18756473|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0002516 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0002577 PMID:28492532|PMID:34906475|RGD:8554872 IAGP RGD:14705554 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0002615 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0002686 PMID:28492532|RGD:8554872 IAGP RGD:151774930 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0002719 PMID:28492532|PMID:34906475|RGD:8554872 IAGP RGD:14705554 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0002757 MIM:239200|ORPHA:417|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250416 HPO RGD 10291 CASR HP:0002789 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0002793 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0002897 MIM:145980|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0002900 MIM:601198|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0002901 MIM:601198|ORPHA:428|PMID:7874174|PMID:8733126|PMID:8813042|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0002901 PMID:10935495|PMID:20501971|PMID:20668040|PMID:21645025|PMID:22422767|PMID:23186954|PMID:25071082|PMID:25741868|PMID:26467025|PMID:26646938|PMID:28492532|PMID:35459864|PMID:8698326|PMID:8813042|PMID:8878438|RGD:8554872 IAGP RGD:8597865 H calcium sensing receptor gene taxon:9606 20260707 ClinVar RGD 10291 CASR HP:0002901 PMID:25741868|RGD:8554872 IAGP RGD:151235646 H calcium sensing receptor gene taxon:9606 20220118 ClinVar RGD 10291 CASR HP:0002901 RGD:8554872 IAGP RGD:11644480 H calcium sensing receptor gene taxon:9606 20210323 ClinVar RGD 10291 CASR HP:0002901 RGD:8554872 IAGP RGD:11666029 H calcium sensing receptor gene taxon:9606 20210323 ClinVar RGD 10291 CASR HP:0002905 MIM:601198|ORPHA:428|PMID:8733126|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0002917 MIM:601198|ORPHA:428|PMID:8813042|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0002918 MIM:145980|PMID:7673400|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0003002 PMID:28492532|RGD:8554872 IAGP RGD:14712291 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0003025 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0003072 MIM:145980|MIM:239200|PMID:7673400|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0003072 PMID:15591042|PMID:17284438|PMID:19389809|PMID:19779033|PMID:22798347|PMID:23372019|PMID:25741868|PMID:26467025|PMID:26963950|PMID:28492532|PMID:8675635|PMID:8878438|RGD:8554872 IAGP RGD:12741916 H calcium sensing receptor gene taxon:9606 20231212 ClinVar RGD 10291 CASR HP:0003072 PMID:16199547|PMID:22422767|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38463464 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0003072 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151814944 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0003072 PMID:19179454|PMID:25741868|RGD:8554872 IAGP RGD:150451528 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0003072 PMID:22422767|PMID:28492532|RGD:8554872 IAGP RGD:150330504 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0003072 PMID:25741868|PMID:26963950|PMID:28492532|PMID:30895164|PMID:32347971|PMID:32761341|RGD:8554872 IAGP RGD:12884291 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0003072 PMID:25741868|PMID:28492532|PMID:31672324|RGD:8554872 IAGP RGD:12899772 H calcium sensing receptor gene taxon:9606 20220906 ClinVar RGD 10291 CASR HP:0003072 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127305675 H calcium sensing receptor gene taxon:9606 20220906 ClinVar RGD 10291 CASR HP:0003072 PMID:25741868|RGD:8554872 IAGP RGD:12899274 H calcium sensing receptor gene taxon:9606 20250408 ClinVar RGD 10291 CASR HP:0003072 PMID:25741868|RGD:8554872 IAGP RGD:8602711 H calcium sensing receptor gene taxon:9606 20250408 ClinVar RGD 10291 CASR HP:0003072 PMID:28492532|RGD:8554872 IAGP RGD:155737460 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0003072 RGD:1600616|PMID:7916660 IAGP H calcium sensing receptor gene taxon:9606 20170922 RGD RGD 10291 CASR HP:0003072 RGD:7205440|PMID:7726161 IAGP H calcium sensing receptor gene taxon:9606 20180103 RGD RGD 10291 CASR HP:0003072 RGD:7205445|PMID:20602573 IAGP H calcium sensing receptor gene taxon:9606 20180103 RGD RGD 10291 CASR HP:0003072 RGD:7205499|PMID:21034470 IAGP H calcium sensing receptor gene taxon:9606 20180104 RGD RGD 10291 CASR HP:0003072 RGD:8554872 IAGP RGD:713418538 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0003109 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0003110 PMID:28492532|PMID:34906475|RGD:8554872 IAGP RGD:14705554 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0003127 MIM:145980|PMID:7673400|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0003127 PMID:15591042|PMID:17284438|PMID:19389809|PMID:19779033|PMID:22798347|PMID:23372019|PMID:25741868|PMID:26467025|PMID:26963950|PMID:28492532|PMID:8675635|PMID:8878438|RGD:8554872 IAGP RGD:12741916 H calcium sensing receptor gene taxon:9606 20231212 ClinVar RGD 10291 CASR HP:0003127 PMID:28492532|RGD:8554872 IAGP RGD:155737460 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0003127 RGD:1600616|PMID:7916660 IAGP H calcium sensing receptor gene taxon:9606 20170922 RGD RGD 10291 CASR HP:0003127 RGD:8554872 IAGP RGD:713418538 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0003165 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0003355 MIM:239200|ORPHA:417|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250416 HPO RGD 10291 CASR HP:0003394 MIM:601198|PMID:8733126|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0003401 MIM:601198|ORPHA:428|PMID:8733126|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0003457 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0003473 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0003621 MIM:601198|MIM:612899|PMID:18756473|PMID:8733126|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20251023 HPO RGD 10291 CASR HP:0003761 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0004322 MIM:601198|ORPHA:417|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250416 HPO RGD 10291 CASR HP:0004349 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0004372 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0005213 ORPHA:676|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0007400 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0008198 RGD:8554872 IAGP RGD:13475054 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0008198 RGD:8554872 IAGP RGD:39456825 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0008200 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0008872 MIM:239200|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0010460 PMID:28492532|PMID:34906475|RGD:8554872 IAGP RGD:14705554 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0010674 PMID:28492532|RGD:8554872 IAGP RGD:13806514 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0011227 ORPHA:676|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0011280 RGD:7205440|PMID:7726161 IAGP H calcium sensing receptor gene taxon:9606 20180103 RGD RGD 10291 CASR HP:0011280 RGD:7205499|PMID:21034470 IAGP H calcium sensing receptor gene taxon:9606 20180104 RGD RGD 10291 CASR HP:0011462 MIM:601198|PMID:8733126|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0011463 MIM:601198|PMID:8733126|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0011675 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0011767 PMID:28492532|RGD:8554872 IAGP RGD:13806514 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0011767 PMID:28492532|RGD:8554872 IAGP RGD:151774930 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0012125 PMID:28492532|RGD:8554872 IAGP RGD:9686783 H calcium sensing receptor gene taxon:9606 20240611 ClinVar RGD 10291 CASR HP:0012210 RGD:13464331|PMID:17018660 IAGP H calcium sensing receptor gene taxon:9606 20180103 RGD RGD 10291 CASR HP:0012210 RGD:7205448|PMID:20067903 IAGP H calcium sensing receptor gene taxon:9606 20180104 RGD RGD 10291 CASR HP:0012211 PMID:28492532|RGD:8554872 IAGP RGD:151774930 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0012213 MIM:601198|PMID:8813042|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0012379 ORPHA:676|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0012608 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0012647 PMID:28492532|PMID:34906475|RGD:8554872 IAGP RGD:14705554 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0012647 PMID:28492532|RGD:8554872 IAGP RGD:13806514 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0012759 RGD:7205468|PMID:21667241 IAGP H calcium sensing receptor gene taxon:9606 20180104 RGD RGD 10291 CASR HP:0025425 MIM:601198|PMID:8733126|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0030247 ORPHA:676|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0031817 MIM:601198|PMID:8733126|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20250912 HPO RGD 10291 CASR HP:0040148 ORPHA:428|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0100027 ORPHA:676|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR HP:0100526 RGD:8554872 IAGP RGD:713526898 H calcium sensing receptor gene taxon:9606 20260519 ClinVar RGD 10291 CASR HP:0100530 ORPHA:417|RGD:8699517 IAGP H calcium sensing receptor gene taxon:9606 20230821 HPO RGD 10291 CASR no_association HP:0011280 RGD:7205502|PMID:19887834 IAGP H calcium sensing receptor gene taxon:9606 20180104 RGD RGD 10291 CASR severity HP:0011767 RGD:7205505|PMID:19640368 IAGP H calcium sensing receptor gene taxon:9606 20180104 RGD RGD 10291 CASR susceptibility HP:0011280 RGD:7205666|PMID:12239240 IAGP H calcium sensing receptor gene taxon:9606 20180104 RGD RGD 10291 CASR susceptibility HP:0012210 RGD:7205447|PMID:21183554 IAGP H calcium sensing receptor gene taxon:9606 20180104 RGD RGD 10305 CD2 HP:0012125 RGD:8554872 IAGP RGD:10768211 H CD2 molecule gene taxon:9606 20210323 ClinVar RGD 10356 CHRNA4 HP:0000006 MIM:600513|PMID:7895015|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20250912 HPO RGD 10356 CHRNA4 HP:0000020 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0000118 PMID:28492532|RGD:8554872 IAGP RGD:151800399 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0000252 PMID:28492532|RGD:8554872 IAGP RGD:42723656 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0000286 PMID:25741868|RGD:8554872 IAGP RGD:714054585 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0000301 PMID:28492532|RGD:8554872 IAGP RGD:10395705 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0000322 PMID:25741868|RGD:8554872 IAGP RGD:714054585 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0000347 PMID:25741868|RGD:8554872 IAGP RGD:714054585 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0000496 PMID:28492532|RGD:8554872 IAGP RGD:10395705 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0000525 PMID:28492532|RGD:8554872 IAGP RGD:10395705 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0000639 PMID:28492532|RGD:8554872 IAGP RGD:13541484 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0000708 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0000716 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0000733 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0000739 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:714054585 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0001249 MIM:600513|PMID:14623738|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20250912 HPO RGD 10356 CHRNA4 HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126738036 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0001250 MIM:600513|PMID:7895015|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20250912 HPO RGD 10356 CHRNA4 HP:0001250 PMID:25741868|PMID:28492532|PMID:36801247|RGD:8554872 IAGP RGD:151661795 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0001250 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126738036 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:10395705 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:13541484 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:42723656 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0001256 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0001263 PMID:28492532|RGD:8554872 IAGP RGD:42723656 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:714054585 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0001290 PMID:28492532|RGD:8554872 IAGP RGD:10395705 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0001345 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:714054585 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0002033 PMID:25741868|RGD:8554872 IAGP RGD:714054585 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0002069 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0002268 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0002353 PMID:28492532|RGD:8554872 IAGP RGD:10395705 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0002883 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0003829 MIM:600513|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0004305 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0004324 RGD:405849410|PMID:19698703 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20240529 RGD RGD 10356 CHRNA4 HP:0007018 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0007354 PMID:25741868|PMID:28492532|PMID:31628766|PMID:32579787|RGD:8554872 IAGP RGD:8644810 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20241112 ClinVar RGD 10356 CHRNA4 HP:0007354 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28876320 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20240319 ClinVar RGD 10356 CHRNA4 HP:0007359 MIM:600513|PMID:7895015|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20250912 HPO RGD 10356 CHRNA4 HP:0007359 PMID:25741868|PMID:28492532|PMID:32987860|RGD:8554872 IAGP RGD:12899890 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0009127 PMID:28492532|RGD:8554872 IAGP RGD:10395705 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260707 ClinVar RGD 10356 CHRNA4 HP:0009185 PMID:25741868|RGD:8554872 IAGP RGD:714054585 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0010522 PMID:25741868|PMID:28492532|PMID:32987860|RGD:8554872 IAGP RGD:12899890 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0011174 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0011182 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0011193 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0011343 PMID:25741868|RGD:8554872 IAGP RGD:714054585 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:10395705 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0011463 MIM:600513|PMID:7895015|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20250912 HPO RGD 10356 CHRNA4 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:10395705 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0011968 PMID:28492532|RGD:8554872 IAGP RGD:10395705 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0012126 PMID:28492532|RGD:8554872 IAGP RGD:12898956 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0020045 PMID:25741868|RGD:8554872 IAGP RGD:714054585 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0025235 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0025236 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0031165 PMID:25741868|PMID:28492532|PMID:36801247|RGD:8554872 IAGP RGD:151661795 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0031535 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0031589 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0031951 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0100021 PMID:28492532|RGD:8554872 IAGP RGD:42723656 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0100543 ORPHA:98784|RGD:8699517 IAGP H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20230821 HPO RGD 10356 CHRNA4 HP:0100543 PMID:28492532|RGD:8554872 IAGP RGD:10395705 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10356 CHRNA4 HP:0100704 PMID:28492532|RGD:8554872 IAGP RGD:42723656 H cholinergic receptor nicotinic alpha 4 subunit gene taxon:9606 20260519 ClinVar RGD 10400926 CCDC28A-AS1 HP:0002665 RGD:8554872 IAGP RGD:714112051 H CCDC28A antisense RNA 1 gene taxon:9606 20260519 ClinVar RGD 10400926 CCDC28A-AS1 HP:0100242 RGD:8554872 IAGP RGD:713620822 H CCDC28A antisense RNA 1 gene taxon:9606 20260519 ClinVar RGD 10400964 CCDC188 HP:0004808 RGD:8554872 IAGP RGD:713970339 H coiled-coil domain containing 188 gene taxon:9606 20260519 ClinVar RGD 10402689 LINC01622 HP:0002665 RGD:8554872 IAGP RGD:713441747 H long independently transcribed non-coding RNA 1622 gene taxon:9606 20260519 ClinVar RGD 11324 TAGLN HP:0004808 RGD:8554872 IAGP RGD:713728829 H transgelin gene taxon:9606 20260519 ClinVar RGD 11324 TAGLN HP:0012126 RGD:8554872 IAGP RGD:714014736 H transgelin gene taxon:9606 20260519 ClinVar RGD 11324 TAGLN HP:0100242 RGD:8554872 IAGP RGD:713740460 H transgelin gene taxon:9606 20260519 ClinVar RGD 11324 TAGLN HP:0100242 RGD:8554872 IAGP RGD:714014736 H transgelin gene taxon:9606 20260519 ClinVar RGD 11352787 MISP3 HP:0011797 RGD:8554872 IAGP RGD:714190205 H MISP family member 3 gene taxon:9606 20260519 ClinVar RGD 11352787 MISP3 HP:0100242 RGD:8554872 IAGP RGD:714270816 H MISP family member 3 gene taxon:9606 20260519 ClinVar RGD 11554295 PRAG1 HP:0001402 RGD:8554872 IAGP RGD:714086574 H PEAK1 related, kinase-activating pseudokinase 1 gene taxon:9606 20260519 ClinVar RGD 11554295 PRAG1 HP:0002861 RGD:8554872 IAGP RGD:713461981 H PEAK1 related, kinase-activating pseudokinase 1 gene taxon:9606 20260519 ClinVar RGD 11554295 PRAG1 HP:0002861 RGD:8554872 IAGP RGD:713462175 H PEAK1 related, kinase-activating pseudokinase 1 gene taxon:9606 20260519 ClinVar RGD 11554295 PRAG1 HP:0012126 RGD:8554872 IAGP RGD:713678643 H PEAK1 related, kinase-activating pseudokinase 1 gene taxon:9606 20260519 ClinVar RGD 11554295 PRAG1 HP:0030359 RGD:8554872 IAGP RGD:713462218 H PEAK1 related, kinase-activating pseudokinase 1 gene taxon:9606 20260519 ClinVar RGD 11554295 PRAG1 HP:0100242 RGD:8554872 IAGP RGD:713461997 H PEAK1 related, kinase-activating pseudokinase 1 gene taxon:9606 20260519 ClinVar RGD 11554295 PRAG1 HP:0100526 RGD:8554872 IAGP RGD:713613672 H PEAK1 related, kinase-activating pseudokinase 1 gene taxon:9606 20260519 ClinVar RGD 11569791 LINC01848 HP:0004808 RGD:8554872 IAGP RGD:713463494 H long independently transcribed non-coding RNA 1848 gene taxon:9606 20260519 ClinVar RGD 11575684 LINC02102 HP:0002665 RGD:8554872 IAGP RGD:713472364 H long independently transcribed non-coding RNA 2102 gene taxon:9606 20260519 ClinVar RGD 11575684 LINC02102 HP:0004808 RGD:8554872 IAGP RGD:714163634 H long independently transcribed non-coding RNA 2102 gene taxon:9606 20260519 ClinVar RGD 11575684 LINC02102 HP:0006770 RGD:8554872 IAGP RGD:713472347 H long independently transcribed non-coding RNA 2102 gene taxon:9606 20260519 ClinVar RGD 12437028 LINC02203 HP:0100242 RGD:8554872 IAGP RGD:713552964 H long independently transcribed non-coding RNA 2203 gene taxon:9606 20260519 ClinVar RGD 12437028 LINC02203 HP:0100242 RGD:8554872 IAGP RGD:713995861 H long independently transcribed non-coding RNA 2203 gene taxon:9606 20260519 ClinVar RGD 124713588 HRURF HP:0000006 MIM:146550|PMID:19122663|RGD:8699517 IAGP H HR upstream open reading frame gene taxon:9606 20250912 HPO RGD 124713588 HRURF HP:0000653 MIM:146550|PMID:20814945|RGD:8699517 IAGP H HR upstream open reading frame gene taxon:9606 20250912 HPO RGD 124713588 HRURF HP:0001596 MIM:146550|PMID:20814945|RGD:8699517 IAGP H HR upstream open reading frame gene taxon:9606 20250912 HPO RGD 124713588 HRURF HP:0002209 MIM:146550|PMID:20814945|RGD:8699517 IAGP H HR upstream open reading frame gene taxon:9606 20250912 HPO RGD 124713588 HRURF HP:0002231 MIM:146550|PMID:20814945|RGD:8699517 IAGP H HR upstream open reading frame gene taxon:9606 20250912 HPO RGD 124713588 HRURF HP:0003577 MIM:146550|PMID:20814945|RGD:8699517 IAGP H HR upstream open reading frame gene taxon:9606 20250912 HPO RGD 124713588 HRURF HP:0030056 MIM:146550|PMID:20814945|RGD:8699517 IAGP H HR upstream open reading frame gene taxon:9606 20250912 HPO RGD 124713588 HRURF HP:0045075 MIM:146550|PMID:20814945|RGD:8699517 IAGP H HR upstream open reading frame gene taxon:9606 20250912 HPO RGD 12798467 SNHG14 HP:0004808 RGD:8554872 IAGP RGD:714162866 H small nucleolar RNA host gene 14 gene taxon:9606 20260602 ClinVar RGD 12799789 LINC02324 HP:0100526 RGD:8554872 IAGP RGD:713535293 H long independently transcribed non-coding RNA 2324 gene taxon:9606 20260519 ClinVar RGD 12799954 LINC02389 HP:0004808 RGD:8554872 IAGP RGD:714049359 H long independently transcribed non-coding RNA 2389 gene taxon:9606 20260519 ClinVar RGD 12799954 LINC02389 HP:0012126 RGD:8554872 IAGP RGD:713658155 H long independently transcribed non-coding RNA 2389 gene taxon:9606 20260519 ClinVar RGD 12801639 FAM240A HP:0100522 RGD:8554872 IAGP RGD:713936510 H family with sequence similarity 240 member A gene taxon:9606 20260519 ClinVar RGD 12802232 LINC02453 HP:0100242 RGD:8554872 IAGP RGD:713799666 H long independently transcribed non-coding RNA 2453 gene taxon:9606 20260519 ClinVar RGD 12802232 LINC02453 HP:0100522 RGD:8554872 IAGP RGD:713654398 H long independently transcribed non-coding RNA 2453 gene taxon:9606 20260519 ClinVar RGD 12802232 LINC02453 HP:0100522 RGD:8554872 IAGP RGD:713799688 H long independently transcribed non-coding RNA 2453 gene taxon:9606 20260519 ClinVar RGD 12903027 TNFRSF14-AS1 HP:0100242 RGD:8554872 IAGP RGD:713958108 H TNFRSF14 antisense RNA 1 gene taxon:9606 20260519 ClinVar RGD 12904116 MYMX HP:0000007 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0000126 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0000162 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0000175 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0000201 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0000218 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0000219 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0000220 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0000233 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0000252 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0000286 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0000338 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0000343 MIM:619941|ORPHA:1358|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0000347 MIM:619941|ORPHA:1358|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0000358 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0000369 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0000411 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0000419 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0000430 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0000463 MIM:619941|ORPHA:1358|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0000494 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0000508 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0000634 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0000678 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0000807 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0001156 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0001249 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0001252 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0001324 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0001508 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0001510 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0001600 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0001602 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0001611 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0001761 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0001762 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0002119 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0002514 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0002650 MIM:619941|ORPHA:1358|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0002705 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0002714 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0003196 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0003198 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0003202 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0003327 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0003593 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0004322 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0006824 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0007360 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0008081 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0009465 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0009751 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0010295 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0010628 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 12904116 MYMX HP:0011094 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0011805 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0030319 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0030822 MIM:619941|PMID:35642635|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20250912 HPO RGD 12904116 MYMX HP:0100735 ORPHA:1358|RGD:8699517 IAGP H myomixer, myoblast fusion factor gene taxon:9606 20230821 HPO RGD 1298223 COL9A1 HP:0000006 MIM:614135|PMID:11565064|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0000007 MIM:614134|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0000118 PMID:28492532|RGD:8554872 IAGP RGD:26912047 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0000126 RGD:8554872 IAGP RGD:405853994 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0000175 ORPHA:250984|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0000218 ORPHA:250984|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250814 HPO RGD 1298223 COL9A1 HP:0000230 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12839351 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0000252 PMID:28492532|RGD:8554872 IAGP RGD:126764992 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0000272 ORPHA:250984|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0000286 MIM:614134|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0000347 ORPHA:250984|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0000365 PMID:24036952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|RGD:8554872 IAGP RGD:11586772 H collagen type IX alpha 1 chain gene taxon:9606 20220906 ClinVar RGD 1298223 COL9A1 HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:714004341 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0000365 PMID:28492532|PMID:30311386|RGD:8554872 IAGP RGD:126910526 H collagen type IX alpha 1 chain gene taxon:9606 20250311 ClinVar RGD 1298223 COL9A1 HP:0000365 PMID:28492532|PMID:30311386|RGD:8554872 IAGP RGD:126910801 H collagen type IX alpha 1 chain gene taxon:9606 20220420 ClinVar RGD 1298223 COL9A1 HP:0000407 MIM:614134|ORPHA:250984|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0000476 RGD:8554872 IAGP RGD:405853994 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0000483 MIM:614134|PMID:16909383|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0000504 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12839351 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0000518 MIM:614134|ORPHA:250984|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0000533 MIM:614134|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0000540 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12839351 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0000541 ORPHA:250984|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0000545 MIM:614134|ORPHA:250984|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0000545 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12839351 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10051900 H collagen type IX alpha 1 chain gene taxon:9606 20250107 ClinVar RGD 1298223 COL9A1 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12839351 H collagen type IX alpha 1 chain gene taxon:9606 20250107 ClinVar RGD 1298223 COL9A1 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152028325 H collagen type IX alpha 1 chain gene taxon:9606 20250107 ClinVar RGD 1298223 COL9A1 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155972272 H collagen type IX alpha 1 chain gene taxon:9606 20250107 ClinVar RGD 1298223 COL9A1 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941259 H collagen type IX alpha 1 chain gene taxon:9606 20250107 ClinVar RGD 1298223 COL9A1 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596942260 H collagen type IX alpha 1 chain gene taxon:9606 20250107 ClinVar RGD 1298223 COL9A1 HP:0000648 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10051900 H collagen type IX alpha 1 chain gene taxon:9606 20250107 ClinVar RGD 1298223 COL9A1 HP:0000704 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12839351 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0000716 PMID:28492532|RGD:8554872 IAGP RGD:151818619 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0000722 PMID:28492532|RGD:8554872 IAGP RGD:151818619 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0000736 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12839351 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:151818619 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0000926 MIM:614134|ORPHA:250984|PMID:16909383|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0001030 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12839351 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0001249 PMID:28492532|RGD:8554872 IAGP RGD:126764992 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:151818619 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0001324 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20251023 HPO RGD 1298223 COL9A1 HP:0001369 PMID:16909383|PMID:21421862|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243053243 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0001382 MIM:614134|ORPHA:250984|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0001382 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12839351 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0001382 RGD:8554872 IAGP RGD:736707221 H collagen type IX alpha 1 chain gene taxon:9606 20260707 ClinVar RGD 1298223 COL9A1 HP:0001513 PMID:28492532|RGD:8554872 IAGP RGD:151818619 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0001611 MIM:614134|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0001626 PMID:28492532|RGD:8554872 IAGP RGD:151818619 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0001650 PMID:28492532|RGD:8554872 IAGP RGD:126764992 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0001763 MIM:614134|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0002099 PMID:28492532|RGD:8554872 IAGP RGD:151818619 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0002110 PMID:16909383|PMID:21421862|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243053243 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0002354 PMID:28492532|RGD:8554872 IAGP RGD:151818619 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0002515 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20251023 HPO RGD 1298223 COL9A1 HP:0002650 MIM:614134|ORPHA:250984|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20251023 HPO RGD 1298223 COL9A1 HP:0002654 MIM:614135|PMID:11565064|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0002655 ORPHA:250984|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250814 HPO RGD 1298223 COL9A1 HP:0002656 MIM:614134|ORPHA:250984|PMID:16909383|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0002665 PMID:16909383|PMID:21421862|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243053243 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0002719 PMID:16909383|PMID:21421862|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243053243 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:151818619 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0002758 MIM:614135|ORPHA:166002|PMID:11565064|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0002812 MIM:614134|ORPHA:166002|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20251023 HPO RGD 1298223 COL9A1 HP:0002815 MIM:614135|ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250416 HPO RGD 1298223 COL9A1 HP:0002829 MIM:614135|ORPHA:250984|PMID:11565064|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20251023 HPO RGD 1298223 COL9A1 HP:0002857 MIM:614134|ORPHA:166002|PMID:16909383|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20251023 HPO RGD 1298223 COL9A1 HP:0002861 RGD:8554872 IAGP RGD:329848141 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0002866 MIM:614134|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0002945 MIM:614134|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0002970 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0003028 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20230821 HPO RGD 1298223 COL9A1 HP:0003045 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20230821 HPO RGD 1298223 COL9A1 HP:0003198 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20230821 HPO RGD 1298223 COL9A1 HP:0003301 MIM:614135|ORPHA:250984|PMID:11565064|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0003365 MIM:614135|ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250416 HPO RGD 1298223 COL9A1 HP:0003370 MIM:614134|MIM:614135|PMID:11565064|PMID:16909383|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0003621 MIM:614135|PMID:11565064|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0003946 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20230821 HPO RGD 1298223 COL9A1 HP:0003999 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20230821 HPO RGD 1298223 COL9A1 HP:0004322 MIM:614134|ORPHA:166002|PMID:16909383|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0004322 PMID:28492532|RGD:8554872 IAGP RGD:126764992 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0004327 ORPHA:250984|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250814 HPO RGD 1298223 COL9A1 HP:0005041 MIM:614134|PMID:16909383|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0005645 MIM:614135|PMID:11565064|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0005681 PMID:16909383|PMID:21421862|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243053243 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0005930 ORPHA:166002|ORPHA:250984|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250416 HPO RGD 1298223 COL9A1 HP:0006055 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20230821 HPO RGD 1298223 COL9A1 HP:0006190 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20230821 HPO RGD 1298223 COL9A1 HP:0006361 MIM:614134|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0006398 MIM:614135|PMID:11565064|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0006407 MIM:614135|PMID:11565064|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0006429 ORPHA:250984|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250814 HPO RGD 1298223 COL9A1 HP:0007773 ORPHA:250984|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0007964 MIM:614134|PMID:16909383|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0007992 ORPHA:250984|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250814 HPO RGD 1298223 COL9A1 HP:0009189 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20230821 HPO RGD 1298223 COL9A1 HP:0009826 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20230821 HPO RGD 1298223 COL9A1 HP:0010049 MIM:614134|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0010582 MIM:614135|PMID:11565064|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0010585 MIM:614135|PMID:11565064|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0010631 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20230821 HPO RGD 1298223 COL9A1 HP:0010665 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20230821 HPO RGD 1298223 COL9A1 HP:0010878 RGD:8554872 IAGP RGD:405853994 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0011003 MIM:614134|ORPHA:250984|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:151818619 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0011474 PMID:25741868|RGD:8554872 IAGP RGD:713612657 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0011800 ORPHA:250984|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0012230 MIM:614134|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0012368 MIM:614134|ORPHA:250984|PMID:16909383|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20260209 HPO RGD 1298223 COL9A1 HP:0012371 MIM:614134|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0012532 RGD:8554872 IAGP RGD:736707221 H collagen type IX alpha 1 chain gene taxon:9606 20260707 ClinVar RGD 1298223 COL9A1 HP:0012647 PMID:28492532|RGD:8554872 IAGP RGD:151818619 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0012770 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20230821 HPO RGD 1298223 COL9A1 HP:0030041 MIM:614135|PMID:11565064|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0030839 MIM:614135|ORPHA:166002|PMID:11565064|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298223 COL9A1 HP:0030973 ORPHA:166002|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20230821 HPO RGD 1298223 COL9A1 HP:0100526 RGD:8554872 IAGP RGD:713567699 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0100769 PMID:16909383|PMID:21421862|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243053243 H collagen type IX alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1298223 COL9A1 HP:0100864 MIM:614134|PMID:21421862|RGD:8699517 IAGP H collagen type IX alpha 1 chain gene taxon:9606 20250912 HPO RGD 1298224 TNFRSF1B HP:0000093 RGD:5147975|PMID:15004265 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20180816 RGD RGD 1298224 TNFRSF1B HP:0000492 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0000656 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0000958 ORPHA:2584|ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20250416 HPO RGD 1298224 TNFRSF1B HP:0000962 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0000964 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0000969 ORPHA:2584|ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20250416 HPO RGD 1298224 TNFRSF1B HP:0000982 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0000988 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0000989 ORPHA:2584|ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20250416 HPO RGD 1298224 TNFRSF1B HP:0001019 ORPHA:2584|ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20250416 HPO RGD 1298224 TNFRSF1B HP:0001029 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0001053 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0001337 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0001596 ORPHA:2584|ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20250416 HPO RGD 1298224 TNFRSF1B HP:0001597 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0001744 ORPHA:2584|ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20250416 HPO RGD 1298224 TNFRSF1B HP:0001824 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20241212 HPO RGD 1298224 TNFRSF1B HP:0001945 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20241212 HPO RGD 1298224 TNFRSF1B HP:0002045 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20241212 HPO RGD 1298224 TNFRSF1B HP:0002103 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0002240 ORPHA:2584|ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20250416 HPO RGD 1298224 TNFRSF1B HP:0002665 ORPHA:2584|ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20250416 HPO RGD 1298224 TNFRSF1B HP:0002716 ORPHA:2584|ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20250416 HPO RGD 1298224 TNFRSF1B HP:0002721 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0002843 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20241212 HPO RGD 1298224 TNFRSF1B HP:0003003 RGD:8554872 IAGP RGD:713716079 H TNF receptor superfamily member 1B gene taxon:9606 20260519 ClinVar RGD 1298224 TNFRSF1B HP:0003202 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0004332 ORPHA:2584|ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20250416 HPO RGD 1298224 TNFRSF1B HP:0004808 RGD:8554872 IAGP RGD:713373237 H TNF receptor superfamily member 1B gene taxon:9606 20260519 ClinVar RGD 1298224 TNFRSF1B HP:0005561 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0007400 ORPHA:2584|ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20250416 HPO RGD 1298224 TNFRSF1B HP:0007488 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20241212 HPO RGD 1298224 TNFRSF1B HP:0008069 ORPHA:2584|ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20250416 HPO RGD 1298224 TNFRSF1B HP:0008404 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0009830 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0010701 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0010783 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0012192 ORPHA:2584|ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20250416 HPO RGD 1298224 TNFRSF1B HP:0025143 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20241212 HPO RGD 1298224 TNFRSF1B HP:0025144 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20241212 HPO RGD 1298224 TNFRSF1B HP:0025475 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20241212 HPO RGD 1298224 TNFRSF1B HP:0030166 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20241212 HPO RGD 1298224 TNFRSF1B HP:0031197 RGD:5147975|PMID:15004265 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20180816 RGD RGD 1298224 TNFRSF1B HP:0033221 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20241212 HPO RGD 1298224 TNFRSF1B HP:0100242 RGD:8554872 IAGP RGD:713373364 H TNF receptor superfamily member 1B gene taxon:9606 20260519 ClinVar RGD 1298224 TNFRSF1B HP:0100725 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0100758 ORPHA:3162|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0200035 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B HP:0200042 ORPHA:2584|RGD:8699517 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20230821 HPO RGD 1298224 TNFRSF1B no_association HP:0002725 RGD:7245571|PMID:11607787 IAGP H TNF receptor superfamily member 1B gene taxon:9606 20190820 RGD RGD 1298347 CASP7 HP:0001402 RGD:8554872 IAGP RGD:714089652 H caspase 7 gene taxon:9606 20260519 ClinVar RGD 1298347 CASP7 HP:0002861 RGD:8554872 IAGP RGD:713789394 H caspase 7 gene taxon:9606 20260519 ClinVar RGD 1298347 CASP7 HP:0002861 RGD:8554872 IAGP RGD:713789407 H caspase 7 gene taxon:9606 20260519 ClinVar RGD 1298347 CASP7 HP:0002861 RGD:8554872 IAGP RGD:713789417 H caspase 7 gene taxon:9606 20260519 ClinVar RGD 1298347 CASP7 HP:0002861 RGD:8554872 IAGP RGD:713789432 H caspase 7 gene taxon:9606 20260519 ClinVar RGD 1298347 CASP7 HP:0004808 RGD:8554872 IAGP RGD:714261111 H caspase 7 gene taxon:9606 20260519 ClinVar RGD 1298347 CASP7 HP:0006725 RGD:8554872 IAGP RGD:713789444 H caspase 7 gene taxon:9606 20260519 ClinVar RGD 1298347 CASP7 HP:0006770 RGD:8554872 IAGP RGD:713789456 H caspase 7 gene taxon:9606 20260519 ClinVar RGD 1298347 CASP7 HP:0012126 RGD:8554872 IAGP RGD:713734778 H caspase 7 gene taxon:9606 20260519 ClinVar RGD 1299953 ZEB1 HP:0000006 MIM:609141|PMID:16252232|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20250912 HPO RGD 1299953 ZEB1 HP:0000023 MIM:609141|PMID:16252232|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20250912 HPO RGD 1299953 ZEB1 HP:0000483 ORPHA:98973|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0000491 MIM:613270|PMID:24094747|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20250912 HPO RGD 1299953 ZEB1 HP:0000501 ORPHA:98973|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0000501 PMID:16252232|PMID:17935237|PMID:25741868|PMID:28492532|PMID:30851240|RGD:8554872 IAGP RGD:12741782 H zinc finger E-box binding homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1299953 ZEB1 HP:0000533 ORPHA:98973|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20260209 HPO RGD 1299953 ZEB1 HP:0000563 MIM:609141|PMID:36613650|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20250912 HPO RGD 1299953 ZEB1 HP:0000565 ORPHA:98973|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0000572 ORPHA:98974|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0000572 PMID:16252232|PMID:17935237|PMID:25741868|PMID:28492532|PMID:30851240|RGD:8554872 IAGP RGD:12741782 H zinc finger E-box binding homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1299953 ZEB1 HP:0000613 ORPHA:98973|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0000622 ORPHA:98973|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0000632 ORPHA:98973|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0000646 ORPHA:98973|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0000662 ORPHA:98974|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0000969 ORPHA:98974|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0001010 PMID:25741868|RGD:8554872 IAGP RGD:243052530 H zinc finger E-box binding homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1299953 ZEB1 HP:0001131 MIM:609141|MIM:613270|PMID:16252232|PMID:36613650|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20250912 HPO RGD 1299953 ZEB1 HP:0001131 PMID:16252232|PMID:17935237|PMID:25441224|PMID:25741868|PMID:28492532|PMID:30851240|RGD:8554872 IAGP RGD:13213385 H zinc finger E-box binding homeobox 1 gene taxon:9606 20240403 ClinVar RGD 1299953 ZEB1 HP:0001131 PMID:25741868|RGD:8554872 IAGP RGD:155804067 H zinc finger E-box binding homeobox 1 gene taxon:9606 20230808 ClinVar RGD 1299953 ZEB1 HP:0001131 PMID:25741868|RGD:8554872 IAGP RGD:401731627 H zinc finger E-box binding homeobox 1 gene taxon:9606 20230808 ClinVar RGD 1299953 ZEB1 HP:0001131 RGD:8554872 IAGP RGD:714200716 H zinc finger E-box binding homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1299953 ZEB1 HP:0001131 RGD:8554872 IAGP RGD:730468552 H zinc finger E-box binding homeobox 1 gene taxon:9606 20260616 ClinVar RGD 1299953 ZEB1 HP:0002861 RGD:8554872 IAGP RGD:713394341 H zinc finger E-box binding homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1299953 ZEB1 HP:0003581 MIM:609141|PMID:36613650|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20250912 HPO RGD 1299953 ZEB1 HP:0007663 MIM:609141|MIM:613270|ORPHA:98973|ORPHA:98974|PMID:24094747|PMID:36613650|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20250912 HPO RGD 1299953 ZEB1 HP:0007906 ORPHA:98973|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0007915 PMID:16252232|PMID:17935237|PMID:25741868|PMID:28492532|PMID:30851240|RGD:8554872 IAGP RGD:12741782 H zinc finger E-box binding homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1299953 ZEB1 HP:0007915 PMID:25741868|RGD:8554872 IAGP RGD:150520669 H zinc finger E-box binding homeobox 1 gene taxon:9606 20230110 ClinVar RGD 1299953 ZEB1 HP:0007957 ORPHA:98973|ORPHA:98974|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20250416 HPO RGD 1299953 ZEB1 HP:0007957 PMID:25741868|RGD:8554872 IAGP RGD:243052530 H zinc finger E-box binding homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1299953 ZEB1 HP:0009918 MIM:609141|ORPHA:98973|PMID:36613650|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20250912 HPO RGD 1299953 ZEB1 HP:0011483 ORPHA:98973|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0011488 ORPHA:98974|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0011490 MIM:613270|ORPHA:98973|ORPHA:98974|PMID:24094747|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20250912 HPO RGD 1299953 ZEB1 HP:0011491 ORPHA:98973|ORPHA:98974|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20250416 HPO RGD 1299953 ZEB1 HP:0012038 MIM:609141|MIM:613270|PMID:16252232|PMID:24094747|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20250912 HPO RGD 1299953 ZEB1 HP:0012040 MIM:613270|ORPHA:98973|PMID:24094747|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20250912 HPO RGD 1299953 ZEB1 HP:0012126 RGD:8554872 IAGP RGD:713984687 H zinc finger E-box binding homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1299953 ZEB1 HP:0025358 ORPHA:98973|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0030857 ORPHA:98974|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0032122 ORPHA:98973|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0100692 ORPHA:98973|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1299953 ZEB1 HP:0200026 ORPHA:98973|RGD:8699517 IAGP H zinc finger E-box binding homeobox 1 gene taxon:9606 20230821 HPO RGD 1300038 ABCA5 HP:0000007 MIM:135400|PMID:19463983|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20250912 HPO RGD 1300038 ABCA5 HP:0000164 ORPHA:2026|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20230821 HPO RGD 1300038 ABCA5 HP:0000169 MIM:135400|ORPHA:2026|PMID:19463983|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20250912 HPO RGD 1300038 ABCA5 HP:0000212 ORPHA:2026|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20230821 HPO RGD 1300038 ABCA5 HP:0000280 ORPHA:2026|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20230821 HPO RGD 1300038 ABCA5 HP:0000286 MIM:135400|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20230821 HPO RGD 1300038 ABCA5 HP:0000414 MIM:135400|PMID:19463983|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20250912 HPO RGD 1300038 ABCA5 HP:0000494 MIM:135400|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20230821 HPO RGD 1300038 ABCA5 HP:0000574 ORPHA:2026|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20230821 HPO RGD 1300038 ABCA5 HP:0000664 ORPHA:2026|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20230821 HPO RGD 1300038 ABCA5 HP:0000684 ORPHA:2026|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20230821 HPO RGD 1300038 ABCA5 HP:0000768 PMID:25741868|RGD:8554872 IAGP RGD:408393333 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0000998 MIM:135400|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20230821 HPO RGD 1300038 ABCA5 HP:0001007 MIM:135400|ORPHA:2026|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20250416 HPO RGD 1300038 ABCA5 HP:0001250 ORPHA:2026|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20230821 HPO RGD 1300038 ABCA5 HP:0001251 ORPHA:2026|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20230821 HPO RGD 1300038 ABCA5 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:408393333 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0001281 PMID:25741868|RGD:8554872 IAGP RGD:408393333 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0001402 RGD:8554872 IAGP RGD:713359287 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0001402 RGD:8554872 IAGP RGD:713359304 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0001402 RGD:8554872 IAGP RGD:713731151 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:408393333 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0002230 ORPHA:2026|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20230821 HPO RGD 1300038 ABCA5 HP:0002353 ORPHA:2026|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20230821 HPO RGD 1300038 ABCA5 HP:0002861 RGD:8554872 IAGP RGD:405272348 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0002861 RGD:8554872 IAGP RGD:714051678 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0003003 RGD:8554872 IAGP RGD:405272348 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0004540 MIM:135400|PMID:19463983|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20250912 HPO RGD 1300038 ABCA5 HP:0004808 RGD:8554872 IAGP RGD:405272348 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0004808 RGD:8554872 IAGP RGD:713710258 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0004808 RGD:8554872 IAGP RGD:714184946 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0004808 RGD:8554872 IAGP RGD:714184952 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0005181 RGD:8554872 IAGP RGD:713573097 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0006770 RGD:8554872 IAGP RGD:405272348 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0007716 RGD:8554872 IAGP RGD:405272348 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0009928 MIM:135400|PMID:19463983|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20250912 HPO RGD 1300038 ABCA5 HP:0010874 RGD:8554872 IAGP RGD:713573097 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0012126 RGD:8554872 IAGP RGD:405274237 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0012126 RGD:8554872 IAGP RGD:714266086 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0012810 MIM:135400|PMID:19463983|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20250912 HPO RGD 1300038 ABCA5 HP:0030153 RGD:8554872 IAGP RGD:713710236 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260707 ClinVar RGD 1300038 ABCA5 HP:0030153 RGD:8554872 IAGP RGD:713710258 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0030359 RGD:8554872 IAGP RGD:714051573 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0033678 RGD:8554872 IAGP RGD:713573097 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0100242 RGD:8554872 IAGP RGD:405272348 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0100242 RGD:8554872 IAGP RGD:714266102 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0100522 RGD:8554872 IAGP RGD:405272348 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0100522 RGD:8554872 IAGP RGD:713710258 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0100522 RGD:8554872 IAGP RGD:714051634 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0100522 RGD:8554872 IAGP RGD:714051641 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0100522 RGD:8554872 IAGP RGD:714266092 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0100526 RGD:8554872 IAGP RGD:405272348 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0100526 RGD:8554872 IAGP RGD:714051655 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0100526 RGD:8554872 IAGP RGD:714051667 H ATP binding cassette subfamily A member 5 gene taxon:9606 20260519 ClinVar RGD 1300038 ABCA5 HP:0100543 ORPHA:2026|RGD:8699517 IAGP H ATP binding cassette subfamily A member 5 gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0000007 MIM:604286|PMID:7581448|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20250912 HPO RGD 1312050 SGCB HP:0000252 PMID:15938573|PMID:18285821|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13481979 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0000369 PMID:25741868|RGD:8554872 IAGP RGD:401856178 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0000545 PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11637488 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0000716 PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11637488 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0000722 PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11637488 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0000739 PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11637488 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0000750 ORPHA:119|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0001252 PMID:15938573|PMID:18285821|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13481979 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0001265 PMID:25741868|RGD:8554872 IAGP RGD:401856178 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0001270 PMID:15938573|PMID:18285821|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13481979 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0001288 ORPHA:119|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20240815 HPO RGD 1312050 SGCB HP:0001638 ORPHA:119|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0001644 MIM:604286|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0001644 PMID:12566530|PMID:15938573|PMID:25135358|PMID:25741868|PMID:25862795|PMID:28492532|RGD:8554872 IAGP RGD:8639585 H sarcoglycan beta gene taxon:9606 20260707 ClinVar RGD 1312050 SGCB HP:0001787 PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11637488 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0002058 ORPHA:119|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0002136 ORPHA:119|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0002242 PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11637488 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0002359 PMID:25741868|RGD:8554872 IAGP RGD:401856178 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0002505 MIM:604286|PMID:8968749|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20250912 HPO RGD 1312050 SGCB HP:0002515 ORPHA:119|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0002515 PMID:25741868|RGD:8554872 IAGP RGD:401856178 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0002650 PMID:15938573|PMID:16199547|PMID:18285821|PMID:25741868|PMID:28492532|PMID:35416532|PMID:39548682|RGD:8554872 IAGP RGD:13782632 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0002803 PMID:15938573|PMID:16199547|PMID:18285821|PMID:25741868|PMID:25862795|PMID:28492532|RGD:8554872 IAGP RGD:151746353 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0002913 ORPHA:119|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0002938 PMID:15938573|PMID:16199547|PMID:18285821|PMID:25741868|PMID:25862795|PMID:28492532|RGD:8554872 IAGP RGD:151746353 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0003003 RGD:8554872 IAGP RGD:714189084 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0003011 PMID:12566530|PMID:15938573|PMID:25135358|PMID:25741868|PMID:25862795|PMID:28492532|RGD:8554872 IAGP RGD:26894698 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0003011 PMID:15938573|PMID:16199547|PMID:18285821|PMID:25741868|PMID:27234031|PMID:28492532|PMID:28687063|RGD:8554872 IAGP RGD:151349353 H sarcoglycan beta gene taxon:9606 20230214 ClinVar RGD 1312050 SGCB HP:0003011 PMID:25741868|PMID:32140910|RGD:8554872 IAGP RGD:151349342 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0003110 PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11637488 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0003121 PMID:25741868|RGD:8554872 IAGP RGD:401856178 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0003198 ORPHA:119|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0003236 MIM:604286|ORPHA:119|PMID:8968749|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20250912 HPO RGD 1312050 SGCB HP:0003325 MIM:604286|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0003391 ORPHA:119|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0003557 ORPHA:119|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0003560 MIM:604286|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0003560 PMID:15938573|PMID:18285821|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13481979 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0003621 MIM:604286|PMID:8968749|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20250912 HPO RGD 1312050 SGCB HP:0003691 MIM:604286|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0003691 PMID:25741868|RGD:8554872 IAGP RGD:401856178 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0003701 PMID:25741868|RGD:8554872 IAGP RGD:401856178 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0003707 MIM:604286|PMID:8968749|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20250912 HPO RGD 1312050 SGCB HP:0003712 PMID:25741868|RGD:8554872 IAGP RGD:401856178 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0003724 MIM:604286|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0003749 ORPHA:119|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0006770 RGD:8554872 IAGP RGD:714189080 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0006785 PMID:15938573|PMID:16199547|PMID:18285821|PMID:25741868|PMID:28492532|PMID:35416532|PMID:39548682|RGD:8554872 IAGP RGD:13782632 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0007126 MIM:604286|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0008981 ORPHA:119|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0008988 MIM:604286|RGD:8699517 IAGP H sarcoglycan beta gene taxon:9606 20230821 HPO RGD 1312050 SGCB HP:0011804 PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11637488 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0012126 PMID:28492532|RGD:8554872 IAGP RGD:127316485 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0030235 PMID:15938573|PMID:18285821|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13481979 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0033127 PMID:25741868|PMID:27671536|PMID:28492532|PMID:28889091|PMID:29970176|PMID:34925456|PMID:35416532|PMID:37317968|PMID:39548682|PMID:9565988|RGD:8554872 IAGP RGD:11639109 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0100022 PMID:25741868|PMID:28492532|PMID:31069529|PMID:33250842|PMID:37317968|RGD:8554872 IAGP RGD:11644159 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0100242 RGD:8554872 IAGP RGD:714189070 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0100526 RGD:8554872 IAGP RGD:714189100 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0100724 PMID:15938573|PMID:17994539|PMID:18285821|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:127273930 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312050 SGCB HP:0100774 PMID:15938573|PMID:16199547|PMID:18285821|PMID:25741868|PMID:28492532|PMID:35416532|PMID:39548682|RGD:8554872 IAGP RGD:13782632 H sarcoglycan beta gene taxon:9606 20260519 ClinVar RGD 1312053 USH1G HP:0000007 MIM:606943|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20260209 HPO RGD 1312053 USH1G HP:0000365 PMID:24033266|PMID:25255398|PMID:25741868|PMID:27068579|PMID:27353947|PMID:28492532|PMID:30245029|PMID:30311386|PMID:30828346|PMID:31637240|PMID:37734845|RGD:8554872 IAGP RGD:9688264 H USH1 protein network component sans gene taxon:9606 20250311 ClinVar RGD 1312053 USH1G HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:13797608 H USH1 protein network component sans gene taxon:9606 20260602 ClinVar RGD 1312053 USH1G HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:152999348 H USH1 protein network component sans gene taxon:9606 20260519 ClinVar RGD 1312053 USH1G HP:0000365 RGD:8554872 IAGP RGD:13797605 H USH1 protein network component sans gene taxon:9606 20260602 ClinVar RGD 1312053 USH1G HP:0000365 RGD:8554872 IAGP RGD:14352694 H USH1 protein network component sans gene taxon:9606 20260602 ClinVar RGD 1312053 USH1G HP:0000365 RGD:8554872 IAGP RGD:14352696 H USH1 protein network component sans gene taxon:9606 20260602 ClinVar RGD 1312053 USH1G HP:0000365 RGD:8554872 IAGP RGD:14689878 H USH1 protein network component sans gene taxon:9606 20260519 ClinVar RGD 1312053 USH1G HP:0000375 ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20250731 HPO RGD 1312053 USH1G HP:0000407 MIM:606943|ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20250731 HPO RGD 1312053 USH1G HP:0000510 MIM:606943|ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20260209 HPO RGD 1312053 USH1G HP:0000510 PMID:24033266|PMID:25255398|PMID:25741868|PMID:27068579|PMID:27353947|PMID:28492532|PMID:30245029|PMID:30311386|PMID:30828346|PMID:31637240|PMID:37734845|RGD:8554872 IAGP RGD:9688264 H USH1 protein network component sans gene taxon:9606 20260519 ClinVar RGD 1312053 USH1G HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:13797608 H USH1 protein network component sans gene taxon:9606 20260602 ClinVar RGD 1312053 USH1G HP:0000512 ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20250731 HPO RGD 1312053 USH1G HP:0000518 ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20250731 HPO RGD 1312053 USH1G HP:0000548 PMID:24033266|PMID:25255398|PMID:25741868|PMID:27068579|PMID:27353947|PMID:28492532|PMID:30245029|PMID:30311386|PMID:30828346|PMID:31637240|PMID:37734845|RGD:8554872 IAGP RGD:9688264 H USH1 protein network component sans gene taxon:9606 20260519 ClinVar RGD 1312053 USH1G HP:0000548 PMID:25741868|RGD:8554872 IAGP RGD:13797608 H USH1 protein network component sans gene taxon:9606 20260602 ClinVar RGD 1312053 USH1G HP:0000556 PMID:23591405|PMID:24033266|PMID:25741868|PMID:26878454|PMID:28492532|RGD:8554872 IAGP RGD:8610988 H USH1 protein network component sans gene taxon:9606 20250107 ClinVar RGD 1312053 USH1G HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26892373 H USH1 protein network component sans gene taxon:9606 20250107 ClinVar RGD 1312053 USH1G HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26921151 H USH1 protein network component sans gene taxon:9606 20250107 ClinVar RGD 1312053 USH1G HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941467 H USH1 protein network component sans gene taxon:9606 20250107 ClinVar RGD 1312053 USH1G HP:0000572 ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20250731 HPO RGD 1312053 USH1G HP:0000575 ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20260209 HPO RGD 1312053 USH1G HP:0000648 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9689713 H USH1 protein network component sans gene taxon:9606 20250107 ClinVar RGD 1312053 USH1G HP:0000662 ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20260209 HPO RGD 1312053 USH1G HP:0000716 ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20250731 HPO RGD 1312053 USH1G HP:0000739 ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20250731 HPO RGD 1312053 USH1G HP:0000750 ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20260209 HPO RGD 1312053 USH1G HP:0001270 ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20260209 HPO RGD 1312053 USH1G HP:0001751 MIM:606943|ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20260209 HPO RGD 1312053 USH1G HP:0002141 ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20260209 HPO RGD 1312053 USH1G HP:0004646 MIM:606943|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20250731 HPO RGD 1312053 USH1G HP:0007663 ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20260209 HPO RGD 1312053 USH1G HP:0007994 ORPHA:231169|RGD:8699517 IAGP H USH1 protein network component sans gene taxon:9606 20260209 HPO RGD 1312053 USH1G HP:0008527 PMID:25741868|RGD:8554872 IAGP RGD:13797608 H USH1 protein network component sans gene taxon:9606 20260602 ClinVar RGD 1312053 USH1G HP:0030153 RGD:8554872 IAGP RGD:713362230 H USH1 protein network component sans gene taxon:9606 20260519 ClinVar RGD 1312054 ARHGEF4 HP:0002861 RGD:8554872 IAGP RGD:713714031 H Rho guanine nucleotide exchange factor 4 gene taxon:9606 20260519 ClinVar RGD 1312054 ARHGEF4 HP:0004808 RGD:8554872 IAGP RGD:713372945 H Rho guanine nucleotide exchange factor 4 gene taxon:9606 20260519 ClinVar RGD 1312054 ARHGEF4 HP:0006770 RGD:8554872 IAGP RGD:713714099 H Rho guanine nucleotide exchange factor 4 gene taxon:9606 20260519 ClinVar RGD 1312054 ARHGEF4 HP:0006770 RGD:8554872 IAGP RGD:713714191 H Rho guanine nucleotide exchange factor 4 gene taxon:9606 20260519 ClinVar RGD 1312054 ARHGEF4 HP:0012126 RGD:8554872 IAGP RGD:713668763 H Rho guanine nucleotide exchange factor 4 gene taxon:9606 20260519 ClinVar RGD 1312054 ARHGEF4 HP:0100242 RGD:8554872 IAGP RGD:713668753 H Rho guanine nucleotide exchange factor 4 gene taxon:9606 20260519 ClinVar RGD 1312054 ARHGEF4 HP:0100242 RGD:8554872 IAGP RGD:713714143 H Rho guanine nucleotide exchange factor 4 gene taxon:9606 20260519 ClinVar RGD 1312054 ARHGEF4 HP:0100242 RGD:8554872 IAGP RGD:713714219 H Rho guanine nucleotide exchange factor 4 gene taxon:9606 20260519 ClinVar RGD 1312054 ARHGEF4 HP:0100522 RGD:8554872 IAGP RGD:713714207 H Rho guanine nucleotide exchange factor 4 gene taxon:9606 20260519 ClinVar RGD 1312056 IFI35 HP:0004808 RGD:8554872 IAGP RGD:713703661 H interferon induced protein 35 gene taxon:9606 20260519 ClinVar RGD 1312056 IFI35 HP:0006770 RGD:8554872 IAGP RGD:714182334 H interferon induced protein 35 gene taxon:9606 20260519 ClinVar RGD 1312056 IFI35 HP:0012126 RGD:8554872 IAGP RGD:714140924 H interferon induced protein 35 gene taxon:9606 20260519 ClinVar RGD 1312056 IFI35 HP:0100522 RGD:8554872 IAGP RGD:714182318 H interferon induced protein 35 gene taxon:9606 20260519 ClinVar RGD 1312056 IFI35 HP:0100526 RGD:8554872 IAGP RGD:714182328 H interferon induced protein 35 gene taxon:9606 20260519 ClinVar RGD 1312059 COG3 HP:0000007 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0000233 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0000252 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0000276 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0000316 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0000343 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0000369 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0000400 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0000448 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0000486 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0000505 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0000639 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0000718 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0000750 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0001249 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0001250 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0001257 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0001263 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0001270 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0001344 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0001402 RGD:8554872 IAGP RGD:713352840 H component of oligomeric golgi complex 3 gene taxon:9606 20260519 ClinVar RGD 1312059 COG3 HP:0002188 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0002353 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0003160 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0003202 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0003593 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0006770 RGD:8554872 IAGP RGD:713874877 H component of oligomeric golgi complex 3 gene taxon:9606 20260519 ClinVar RGD 1312059 COG3 HP:0006855 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0008936 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0011463 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0012389 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0030153 RGD:8554872 IAGP RGD:713874759 H component of oligomeric golgi complex 3 gene taxon:9606 20260519 ClinVar RGD 1312059 COG3 HP:0032792 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0032794 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0033725 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0034392 MIM:620546|PMID:37711075|RGD:8699517 IAGP H component of oligomeric golgi complex 3 gene taxon:9606 20250912 HPO RGD 1312059 COG3 HP:0100242 RGD:8554872 IAGP RGD:713874743 H component of oligomeric golgi complex 3 gene taxon:9606 20260519 ClinVar RGD 1312059 COG3 HP:0100242 RGD:8554872 IAGP RGD:713874777 H component of oligomeric golgi complex 3 gene taxon:9606 20260519 ClinVar RGD 1312059 COG3 HP:0100522 RGD:8554872 IAGP RGD:713662858 H component of oligomeric golgi complex 3 gene taxon:9606 20260519 ClinVar RGD 1312059 COG3 HP:0100526 RGD:8554872 IAGP RGD:713874616 H component of oligomeric golgi complex 3 gene taxon:9606 20260519 ClinVar RGD 1312059 COG3 HP:0100526 RGD:8554872 IAGP RGD:713874632 H component of oligomeric golgi complex 3 gene taxon:9606 20260519 ClinVar RGD 1312059 COG3 HP:0100526 RGD:8554872 IAGP RGD:713874662 H component of oligomeric golgi complex 3 gene taxon:9606 20260519 ClinVar RGD 1312059 COG3 HP:0100526 RGD:8554872 IAGP RGD:713874728 H component of oligomeric golgi complex 3 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000002 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000006 MIM:604717|MIM:614583|PMID:13680526|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250912 HPO RGD 1312061 ACTG1 HP:0000028 PMID:25741868|RGD:8554872 IAGP RGD:14978152 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000047 PMID:25741868|RGD:8554872 IAGP RGD:598122369 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000072 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000126 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000154 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0000175 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000202 MIM:614583|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000202 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000219 MIM:614583|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000233 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000239 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000243 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0000248 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000252 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:38596956 H actin gamma 1 gene taxon:9606 20210323 ClinVar RGD 1312061 ACTG1 HP:0000270 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000278 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0000280 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000286 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000293 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000307 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0000316 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0000316 PMID:25741868|PMID:27240540|RGD:8554872 IAGP RGD:13530147 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000316 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000322 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000343 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0000347 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000365 MIM:614583|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000365 PMID:11474115|PMID:19477959|PMID:20301607|PMID:24033266|PMID:25741868|PMID:25792668|PMID:26832775|PMID:28492532|PMID:30311386|RGD:8554872 IAGP RGD:8600954 H actin gamma 1 gene taxon:9606 20260609 ClinVar RGD 1312061 ACTG1 HP:0000365 PMID:19548389|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243052686 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000365 PMID:23506231|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155268318 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000365 PMID:25741868|PMID:28492532|PMID:29357087|PMID:29620237|RGD:8554872 IAGP RGD:21074717 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000365 PMID:25741868|PMID:28492532|PMID:36194208|RGD:8554872 IAGP RGD:150521327 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000365 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401923304 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000365 PMID:25741868|PMID:29986705|PMID:30622556|PMID:35802133|PMID:36633841|RGD:8554872 IAGP RGD:151728060 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000365 PMID:25741868|PMID:30311386|RGD:8554872 IAGP RGD:126910713 H actin gamma 1 gene taxon:9606 20260707 ClinVar RGD 1312061 ACTG1 HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:151349701 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:155645344 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:407424760 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000377 MIM:614583|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000396 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000408 MIM:604717|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000431 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000437 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000445 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000448 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000465 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0000465 PMID:22366783|PMID:25741868|RGD:8554872 IAGP RGD:8601952 H actin gamma 1 gene taxon:9606 20260707 ClinVar RGD 1312061 ACTG1 HP:0000470 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0000470 PMID:22366783|PMID:25741868|RGD:8554872 IAGP RGD:8601952 H actin gamma 1 gene taxon:9606 20260707 ClinVar RGD 1312061 ACTG1 HP:0000482 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000494 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000506 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0000508 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0000508 PMID:22366783|PMID:25741868|RGD:8554872 IAGP RGD:8601952 H actin gamma 1 gene taxon:9606 20260707 ClinVar RGD 1312061 ACTG1 HP:0000514 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000518 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000545 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000568 MIM:614583|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000577 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000588 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000589 MIM:614583|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000612 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0000637 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0000637 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000639 PMID:25741868|RGD:8554872 IAGP RGD:155681072 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000750 PMID:25741868|PMID:28492532|PMID:29357087|PMID:29620237|RGD:8554872 IAGP RGD:21074717 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000750 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0000824 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001100 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0001249 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0001249 PMID:25741868|PMID:28492532|PMID:30008475|PMID:33584783|RGD:8554872 IAGP RGD:13471584 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38596386 H actin gamma 1 gene taxon:9606 20250311 ClinVar RGD 1312061 ACTG1 HP:0001250 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0001252 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001263 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0001263 PMID:25741868|PMID:28492532|PMID:30008475|PMID:33584783|RGD:8554872 IAGP RGD:13471584 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001263 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401923304 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001263 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001265 RGD:8554872 IAGP RGD:10052122 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001274 MIM:614583|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0001274 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001298 PMID:25741868|RGD:8554872 IAGP RGD:155681072 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001302 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0001328 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0001338 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001339 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0001339 PMID:25741868|RGD:8554872 IAGP RGD:8601956 H actin gamma 1 gene taxon:9606 20260602 ClinVar RGD 1312061 ACTG1 HP:0001339 RGD:8554872 IAGP RGD:42723272 H actin gamma 1 gene taxon:9606 20260602 ClinVar RGD 1312061 ACTG1 HP:0001387 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0001508 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0001508 PMID:25741868|PMID:28492532|PMID:29357087|PMID:29620237|RGD:8554872 IAGP RGD:21074717 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001510 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0001510 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001510 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001513 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401923304 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001631 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001631 RGD:8554872 IAGP RGD:40886826 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001684 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001822 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001988 PMID:25741868|RGD:8554872 IAGP RGD:598122369 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0001999 PMID:25741868|PMID:28492532|PMID:30008475|PMID:33584783|RGD:8554872 IAGP RGD:13471584 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0002000 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0002013 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0002027 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0002076 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0002099 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0002119 MIM:614583|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0002120 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0002126 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0002162 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0002300 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0002326 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0002381 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0002540 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0002553 MIM:614583|ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20250416 HPO RGD 1312061 ACTG1 HP:0002553 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0002579 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0002650 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0002652 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0002664 PMID:35101336|RGD:8554872 IAGP RGD:713585993 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0002861 RGD:8554872 IAGP RGD:713397561 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0003117 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0003189 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0003199 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151882804 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0003199 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0004322 MIM:614583|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:598122369 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0004322 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0004389 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0005120 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0005484 MIM:614583|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0005484 PMID:25741868|PMID:28492532|PMID:30008475|PMID:33584783|RGD:8554872 IAGP RGD:13471584 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0005487 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0006532 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0006610 PMID:22366783|PMID:25741868|RGD:8554872 IAGP RGD:8601952 H actin gamma 1 gene taxon:9606 20260707 ClinVar RGD 1312061 ACTG1 HP:0006770 RGD:8554872 IAGP RGD:713397535 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0006770 RGD:8554872 IAGP RGD:713397584 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0006770 RGD:8554872 IAGP RGD:713397657 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0006770 RGD:8554872 IAGP RGD:713397701 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0007018 PMID:22366783|PMID:25741868|RGD:8554872 IAGP RGD:8601952 H actin gamma 1 gene taxon:9606 20260707 ClinVar RGD 1312061 ACTG1 HP:0007018 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0007370 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0007633 PMID:25741868|RGD:8554872 IAGP RGD:155681072 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0007687 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401923304 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0007840 RGD:8554872 IAGP RGD:13530755 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0008619 MIM:604717|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0009748 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0009763 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0009830 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151882804 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0009942 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0010529 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0010935 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0011446 PMID:22366783|PMID:25741868|RGD:8554872 IAGP RGD:8601952 H actin gamma 1 gene taxon:9606 20260707 ClinVar RGD 1312061 ACTG1 HP:0011451 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0011462 MIM:604717|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0011474 PMID:25741868|RGD:8554872 IAGP RGD:39457632 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0011968 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0011968 PMID:25741868|PMID:28492532|PMID:29357087|PMID:29620237|RGD:8554872 IAGP RGD:21074717 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0011994 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0012157 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0012277 PMID:25741868|RGD:8554872 IAGP RGD:155681072 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0012450 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0012758 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0012759 PMID:22366783|PMID:25741868|RGD:8554872 IAGP RGD:8601952 H actin gamma 1 gene taxon:9606 20260707 ClinVar RGD 1312061 ACTG1 HP:0012905 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0025156 PMID:25741868|RGD:8554872 IAGP RGD:13480720 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0030153 RGD:8554872 IAGP RGD:714268033 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0030237 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151882804 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0030502 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0030680 MIM:614583|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20240307 HPO RGD 1312061 ACTG1 HP:0032367 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0033660 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151882804 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0033748 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151882804 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0040188 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0100242 RGD:8554872 IAGP RGD:714268033 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0100308 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0100522 RGD:8554872 IAGP RGD:714268033 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312061 ACTG1 HP:0100540 ORPHA:2995|RGD:8699517 IAGP H actin gamma 1 gene taxon:9606 20230821 HPO RGD 1312061 ACTG1 HP:0100737 RGD:8554872 IAGP RGD:405867328 H actin gamma 1 gene taxon:9606 20260519 ClinVar RGD 1312063 PGLYRP3 HP:0000081 RGD:8554872 IAGP RGD:153301095 H peptidoglycan recognition protein 3 gene taxon:9606 20260519 ClinVar RGD 1312063 PGLYRP3 HP:0000126 RGD:8554872 IAGP RGD:153301095 H peptidoglycan recognition protein 3 gene taxon:9606 20260519 ClinVar RGD 1312063 PGLYRP3 HP:0002037 RGD:8554872 IAGP RGD:153301095 H peptidoglycan recognition protein 3 gene taxon:9606 20260519 ClinVar RGD 1312063 PGLYRP3 HP:0002583 RGD:8554872 IAGP RGD:153301095 H peptidoglycan recognition protein 3 gene taxon:9606 20260519 ClinVar RGD 1312063 PGLYRP3 HP:0030359 RGD:8554872 IAGP RGD:714189839 H peptidoglycan recognition protein 3 gene taxon:9606 20260519 ClinVar RGD 1312065 DSTN HP:0100526 RGD:8554872 IAGP RGD:713696276 H destrin, actin depolymerizing factor gene taxon:9606 20260519 ClinVar RGD 1312067 WNT6 HP:0002665 RGD:8554872 IAGP RGD:713822982 H Wnt family member 6 gene taxon:9606 20260519 ClinVar RGD 1312070 CHCHD6 HP:0030359 RGD:8554872 IAGP RGD:714196619 H coiled-coil-helix-coiled-coil-helix domain containing 6 gene taxon:9606 20260519 ClinVar RGD 1312072 SYNE3 HP:0001402 RGD:8554872 IAGP RGD:713354057 H spectrin repeat containing nuclear envelope family member 3 gene taxon:9606 20260519 ClinVar RGD 1312072 SYNE3 HP:0002861 RGD:8554872 IAGP RGD:713957139 H spectrin repeat containing nuclear envelope family member 3 gene taxon:9606 20260519 ClinVar RGD 1312072 SYNE3 HP:0012126 RGD:8554872 IAGP RGD:713957163 H spectrin repeat containing nuclear envelope family member 3 gene taxon:9606 20260519 ClinVar RGD 1312072 SYNE3 HP:0012126 RGD:8554872 IAGP RGD:714162775 H spectrin repeat containing nuclear envelope family member 3 gene taxon:9606 20260707 ClinVar RGD 1312072 SYNE3 HP:0030153 RGD:8554872 IAGP RGD:713554271 H spectrin repeat containing nuclear envelope family member 3 gene taxon:9606 20260519 ClinVar RGD 1312072 SYNE3 HP:0030359 RGD:8554872 IAGP RGD:713548973 H spectrin repeat containing nuclear envelope family member 3 gene taxon:9606 20260519 ClinVar RGD 1312072 SYNE3 HP:0100242 RGD:8554872 IAGP RGD:713957150 H spectrin repeat containing nuclear envelope family member 3 gene taxon:9606 20260519 ClinVar RGD 1312072 SYNE3 HP:0100242 RGD:8554872 IAGP RGD:714162770 H spectrin repeat containing nuclear envelope family member 3 gene taxon:9606 20260519 ClinVar RGD 1312074 RUFY2 HP:0001402 RGD:8554872 IAGP RGD:714090551 H RUN and FYVE domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312074 RUFY2 HP:0004808 RGD:8554872 IAGP RGD:713779882 H RUN and FYVE domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312074 RUFY2 HP:0004808 RGD:8554872 IAGP RGD:713786596 H RUN and FYVE domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312074 RUFY2 HP:0011797 RGD:8554872 IAGP RGD:713779871 H RUN and FYVE domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312074 RUFY2 HP:0011797 RGD:8554872 IAGP RGD:713783351 H RUN and FYVE domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312074 RUFY2 HP:0012126 RGD:8554872 IAGP RGD:713745416 H RUN and FYVE domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312074 RUFY2 HP:0100526 RGD:8554872 IAGP RGD:713360064 H RUN and FYVE domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:155266089 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0001402 RGD:8554872 IAGP RGD:714081809 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0001402 RGD:8554872 IAGP RGD:714081823 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0002861 RGD:8554872 IAGP RGD:713477831 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0004808 RGD:8554872 IAGP RGD:713719507 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0004808 RGD:8554872 IAGP RGD:713727591 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0006770 RGD:8554872 IAGP RGD:713477567 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0006770 RGD:8554872 IAGP RGD:713477588 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0006770 RGD:8554872 IAGP RGD:713477604 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0006770 RGD:8554872 IAGP RGD:713477714 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0007716 RGD:8554872 IAGP RGD:714011228 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0011797 RGD:8554872 IAGP RGD:713727614 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0012126 RGD:8554872 IAGP RGD:713931185 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0100242 RGD:8554872 IAGP RGD:713727591 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0100522 RGD:8554872 IAGP RGD:713477638 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0100522 RGD:8554872 IAGP RGD:713727591 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312076 SENP6 HP:0100526 RGD:8554872 IAGP RGD:713477791 H SUMO specific peptidase 6 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0001402 RGD:8554872 IAGP RGD:714073491 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0006770 RGD:8554872 IAGP RGD:714196200 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0011797 RGD:8554872 IAGP RGD:713450157 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0011797 RGD:8554872 IAGP RGD:713454297 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0012126 RGD:8554872 IAGP RGD:713454127 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0012126 RGD:8554872 IAGP RGD:713461987 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0012126 RGD:8554872 IAGP RGD:713777190 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0012126 RGD:8554872 IAGP RGD:713777243 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0012126 RGD:8554872 IAGP RGD:713777285 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0012126 RGD:8554872 IAGP RGD:713929952 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0100242 RGD:8554872 IAGP RGD:713777072 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0100242 RGD:8554872 IAGP RGD:714196043 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0100522 RGD:8554872 IAGP RGD:713454095 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0100522 RGD:8554872 IAGP RGD:713457759 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0100615 RGD:8554872 IAGP RGD:714195800 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312078 IGSF9 HP:0100615 RGD:8554872 IAGP RGD:714195827 H immunoglobulin superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0000007 MIM:614292|PMID:21885030|RGD:8699517 IAGP H prolyl 3-hydroxylase 2 gene taxon:9606 20260209 HPO RGD 1312081 P3H2 HP:0000510 PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290|RGD:8554872 IAGP RGD:21405094 H prolyl 3-hydroxylase 2 gene taxon:9606 20230214 ClinVar RGD 1312081 P3H2 HP:0000518 MIM:614292|PMID:21885030|RGD:8699517 IAGP H prolyl 3-hydroxylase 2 gene taxon:9606 20260209 HPO RGD 1312081 P3H2 HP:0000518 PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290|RGD:8554872 IAGP RGD:21405094 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0000541 MIM:614292|PMID:21885030|RGD:8699517 IAGP H prolyl 3-hydroxylase 2 gene taxon:9606 20260209 HPO RGD 1312081 P3H2 HP:0000541 PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290|RGD:8554872 IAGP RGD:21405094 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0000545 PMID:25741868|RGD:8554872 IAGP RGD:596944551 H prolyl 3-hydroxylase 2 gene taxon:9606 20250107 ClinVar RGD 1312081 P3H2 HP:0000580 PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290|RGD:8554872 IAGP RGD:21405094 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0000648 PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290|RGD:8554872 IAGP RGD:21405094 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0000708 PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290|RGD:8554872 IAGP RGD:21405094 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0000750 PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290|RGD:8554872 IAGP RGD:21405094 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0001132 MIM:614292|PMID:21885030|RGD:8699517 IAGP H prolyl 3-hydroxylase 2 gene taxon:9606 20250912 HPO RGD 1312081 P3H2 HP:0001263 PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290|RGD:8554872 IAGP RGD:21405094 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0001397 PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290|RGD:8554872 IAGP RGD:21405094 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0001402 PMID:28492532|RGD:8554872 IAGP RGD:127302533 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0002342 PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290|RGD:8554872 IAGP RGD:21405094 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0006770 PMID:28492532|RGD:8554872 IAGP RGD:127304344 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0006770 RGD:8554872 IAGP RGD:713848208 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0006770 RGD:8554872 IAGP RGD:713848306 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0006770 RGD:8554872 IAGP RGD:714115673 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0007992 MIM:614292|PMID:21885030|RGD:8699517 IAGP H prolyl 3-hydroxylase 2 gene taxon:9606 20250912 HPO RGD 1312081 P3H2 HP:0008915 PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290|RGD:8554872 IAGP RGD:21405094 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0011003 MIM:614292|PMID:21885030|RGD:8699517 IAGP H prolyl 3-hydroxylase 2 gene taxon:9606 20250912 HPO RGD 1312081 P3H2 HP:0011003 PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290|RGD:8554872 IAGP RGD:21405094 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0011463 MIM:614292|PMID:21885030|RGD:8699517 IAGP H prolyl 3-hydroxylase 2 gene taxon:9606 20260209 HPO RGD 1312081 P3H2 HP:0011797 RGD:8554872 IAGP RGD:713956716 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0012760 PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290|RGD:8554872 IAGP RGD:21405094 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0032037 MIM:614292|PMID:21885030|RGD:8699517 IAGP H prolyl 3-hydroxylase 2 gene taxon:9606 20250912 HPO RGD 1312081 P3H2 HP:0100242 PMID:25741868|RGD:8554872 IAGP RGD:150487708 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0100242 RGD:8554872 IAGP RGD:150428474 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0100526 PMID:28492532|RGD:8554872 IAGP RGD:127302533 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0100526 RGD:8554872 IAGP RGD:713848231 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0100526 RGD:8554872 IAGP RGD:713848282 H prolyl 3-hydroxylase 2 gene taxon:9606 20260519 ClinVar RGD 1312081 P3H2 HP:0100832 MIM:614292|PMID:21885030|RGD:8699517 IAGP H prolyl 3-hydroxylase 2 gene taxon:9606 20250912 HPO RGD 1312081 P3H2 HP:0200071 MIM:614292|PMID:21885030|RGD:8699517 IAGP H prolyl 3-hydroxylase 2 gene taxon:9606 20250912 HPO RGD 1312083 FEM1B HP:0000006 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000010 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000023 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000074 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000154 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000158 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000256 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000276 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000286 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000307 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000319 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000322 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000343 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000358 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000365 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000369 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000378 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000403 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000411 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000431 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000448 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000483 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000490 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000494 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000506 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000540 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000545 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000579 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000646 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000664 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000699 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000718 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000732 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000737 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000739 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000744 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000750 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000768 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000822 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000826 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000872 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000954 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000958 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000965 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0000974 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001182 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001238 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001249 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001250 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001252 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001257 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001260 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001263 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001276 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001310 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001320 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001321 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001347 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001357 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001385 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001545 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001622 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001629 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001631 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001655 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001688 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001761 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001762 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0001845 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002013 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002014 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002020 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002021 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002033 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002059 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002079 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002136 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002213 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002282 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002342 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002376 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002515 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002650 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002714 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002808 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0002949 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0003307 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0003388 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0003396 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0003577 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0003623 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0004209 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0005280 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0005469 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0005709 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0007239 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0007663 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0008070 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0008081 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0008245 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0008936 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0009765 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0009879 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0010296 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0010518 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0010529 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0010536 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0010665 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0010862 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0011003 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0011220 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0011327 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0011346 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0011968 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0012110 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0012168 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0012169 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0012385 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0012412 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0012450 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0012471 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0012735 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0020025 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0025116 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0025336 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0030756 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0030856 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0030880 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0031353 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0031936 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0033725 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0100021 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0100490 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0100522 RGD:8554872 IAGP RGD:713766605 H fem-1 homolog B gene taxon:9606 20260519 ClinVar RGD 1312083 FEM1B HP:0100702 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0100716 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312083 FEM1B HP:0410151 MIM:621263|PMID:38465576|RGD:8699517 IAGP H fem-1 homolog B gene taxon:9606 20260423 HPO RGD 1312086 EBPL HP:0002861 RGD:8554872 IAGP RGD:713878009 H EBP like gene taxon:9606 20260519 ClinVar RGD 1312089 MAST2 HP:0001402 RGD:8554872 IAGP RGD:713364746 H microtubule associated serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312089 MAST2 HP:0002861 RGD:8554872 IAGP RGD:713383414 H microtubule associated serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312089 MAST2 HP:0002861 RGD:8554872 IAGP RGD:713384200 H microtubule associated serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312089 MAST2 HP:0002861 RGD:8554872 IAGP RGD:713384400 H microtubule associated serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312089 MAST2 HP:0004808 RGD:8554872 IAGP RGD:713997144 H microtubule associated serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312089 MAST2 HP:0006725 RGD:8554872 IAGP RGD:713386093 H microtubule associated serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312089 MAST2 HP:0006770 RGD:8554872 IAGP RGD:713385086 H microtubule associated serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312089 MAST2 HP:0012126 RGD:8554872 IAGP RGD:713997144 H microtubule associated serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312089 MAST2 HP:0012126 RGD:8554872 IAGP RGD:714273168 H microtubule associated serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312089 MAST2 HP:0030153 RGD:8554872 IAGP RGD:713382079 H microtubule associated serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312089 MAST2 HP:0100242 RGD:8554872 IAGP RGD:713383502 H microtubule associated serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312089 MAST2 HP:0100242 RGD:8554872 IAGP RGD:714273176 H microtubule associated serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312089 MAST2 HP:0100522 RGD:8554872 IAGP RGD:713385725 H microtubule associated serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312089 MAST2 HP:0100526 RGD:8554872 IAGP RGD:714270791 H microtubule associated serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312092 MAP3K3 HP:0001442 MIM:621032|PMID:33729480|RGD:8699517 IAGP H mitogen-activated protein kinase kinase kinase 3 gene taxon:9606 20251023 HPO RGD 1312092 MAP3K3 HP:0002170 MIM:621032|PMID:33729480|RGD:8699517 IAGP H mitogen-activated protein kinase kinase kinase 3 gene taxon:9606 20251023 HPO RGD 1312092 MAP3K3 HP:0002597 PMID:25741868|RGD:8554872 IAGP RGD:153000866 H mitogen-activated protein kinase kinase kinase 3 gene taxon:9606 20260602 ClinVar RGD 1312092 MAP3K3 HP:0002624 PMID:25741868|RGD:8554872 IAGP RGD:153000866 H mitogen-activated protein kinase kinase kinase 3 gene taxon:9606 20260602 ClinVar RGD 1312092 MAP3K3 HP:0002861 RGD:8554872 IAGP RGD:714047468 H mitogen-activated protein kinase kinase kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312092 MAP3K3 HP:0002861 RGD:8554872 IAGP RGD:714047476 H mitogen-activated protein kinase kinase kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312092 MAP3K3 HP:0002861 RGD:8554872 IAGP RGD:714047487 H mitogen-activated protein kinase kinase kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312092 MAP3K3 HP:0003581 MIM:621032|PMID:33729480|RGD:8699517 IAGP H mitogen-activated protein kinase kinase kinase 3 gene taxon:9606 20251023 HPO RGD 1312092 MAP3K3 HP:0003621 MIM:621032|PMID:33729480|RGD:8699517 IAGP H mitogen-activated protein kinase kinase kinase 3 gene taxon:9606 20251023 HPO RGD 1312092 MAP3K3 HP:0004808 RGD:8554872 IAGP RGD:713705873 H mitogen-activated protein kinase kinase kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312092 MAP3K3 HP:0010797 PMID:25728774|PMID:27993330|PMID:33729480|PMID:33891857|PMID:33899768|PMID:35355835|PMID:36995941|RGD:8554872 IAGP RGD:714062506 H mitogen-activated protein kinase kinase kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312092 MAP3K3 HP:0011797 RGD:8554872 IAGP RGD:713702070 H mitogen-activated protein kinase kinase kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312092 MAP3K3 HP:0033522 MIM:621032|PMID:33729480|RGD:8699517 IAGP H mitogen-activated protein kinase kinase kinase 3 gene taxon:9606 20251023 HPO RGD 1312095 ZNF205 HP:0002861 RGD:8554872 IAGP RGD:713700250 H zinc finger protein 205 gene taxon:9606 20260519 ClinVar RGD 1312095 ZNF205 HP:0002861 RGD:8554872 IAGP RGD:713700261 H zinc finger protein 205 gene taxon:9606 20260519 ClinVar RGD 1312095 ZNF205 HP:0004808 RGD:8554872 IAGP RGD:713631485 H zinc finger protein 205 gene taxon:9606 20260519 ClinVar RGD 1312095 ZNF205 HP:0011797 RGD:8554872 IAGP RGD:713631500 H zinc finger protein 205 gene taxon:9606 20260519 ClinVar RGD 1312095 ZNF205 HP:0011797 RGD:8554872 IAGP RGD:713633348 H zinc finger protein 205 gene taxon:9606 20260519 ClinVar RGD 1312097 HSD17B14 HP:0002861 RGD:8554872 IAGP RGD:713854711 H hydroxysteroid 17-beta dehydrogenase 14 gene taxon:9606 20260519 ClinVar RGD 1312097 HSD17B14 HP:0006770 RGD:8554872 IAGP RGD:713854677 H hydroxysteroid 17-beta dehydrogenase 14 gene taxon:9606 20260519 ClinVar RGD 1312097 HSD17B14 HP:0006770 RGD:8554872 IAGP RGD:713854817 H hydroxysteroid 17-beta dehydrogenase 14 gene taxon:9606 20260519 ClinVar RGD 1312097 HSD17B14 HP:0006770 RGD:8554872 IAGP RGD:713854864 H hydroxysteroid 17-beta dehydrogenase 14 gene taxon:9606 20260519 ClinVar RGD 1312097 HSD17B14 HP:0006770 RGD:8554872 IAGP RGD:713854883 H hydroxysteroid 17-beta dehydrogenase 14 gene taxon:9606 20260519 ClinVar RGD 1312097 HSD17B14 HP:0011003 RGD:8554872 IAGP RGD:14696158 H hydroxysteroid 17-beta dehydrogenase 14 gene taxon:9606 20210323 ClinVar RGD 1312097 HSD17B14 HP:0012126 RGD:8554872 IAGP RGD:713764762 H hydroxysteroid 17-beta dehydrogenase 14 gene taxon:9606 20260519 ClinVar RGD 1312097 HSD17B14 HP:0030153 RGD:8554872 IAGP RGD:713854774 H hydroxysteroid 17-beta dehydrogenase 14 gene taxon:9606 20260519 ClinVar RGD 1312097 HSD17B14 HP:0100526 RGD:8554872 IAGP RGD:713854734 H hydroxysteroid 17-beta dehydrogenase 14 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0000023 PMID:10790201|PMID:12031625|PMID:25741868|PMID:25957634|PMID:28492532|RGD:8554872 IAGP RGD:151814766 H myotubularin 1 gene taxon:9606 20260609 ClinVar RGD 1312103 MTM1 HP:0000028 MIM:310400|ORPHA:456328|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0000028 PMID:10790201|PMID:12031625|PMID:25741868|PMID:25957634|PMID:28492532|RGD:8554872 IAGP RGD:151814766 H myotubularin 1 gene taxon:9606 20260609 ClinVar RGD 1312103 MTM1 HP:0000028 PMID:25741868|RGD:8554872 IAGP RGD:329351496 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0000028 PMID:25741868|RGD:8554872 IAGP RGD:405852646 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0000048 ORPHA:456328|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0000054 ORPHA:456328|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0000062 PMID:18414213|PMID:22435031|PMID:25741868|RGD:8554872 IAGP RGD:9682850 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0000194 RGD:8554872 IAGP RGD:405867394 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0000218 MIM:310400|ORPHA:456328|ORPHA:596|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0000238 MIM:310400|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0000244 PMID:10790201|PMID:12031625|PMID:25741868|PMID:25957634|PMID:28492532|RGD:8554872 IAGP RGD:151814766 H myotubularin 1 gene taxon:9606 20260609 ClinVar RGD 1312103 MTM1 HP:0000256 MIM:310400|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0000268 MIM:310400|ORPHA:596|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0000268 PMID:10790201|PMID:12031625|PMID:25741868|PMID:25957634|PMID:28492532|RGD:8554872 IAGP RGD:151814766 H myotubularin 1 gene taxon:9606 20260609 ClinVar RGD 1312103 MTM1 HP:0000268 RGD:8554872 IAGP RGD:405867394 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0000268 RGD:8554872 IAGP RGD:713709838 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0000275 MIM:310400|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0000276 MIM:310400|ORPHA:596|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0000278 ORPHA:456328|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0000288 RGD:8554872 IAGP RGD:713709838 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0000316 PMID:18414213|PMID:22435031|PMID:25741868|RGD:8554872 IAGP RGD:9682850 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0000343 RGD:8554872 IAGP RGD:713709838 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0000348 MIM:310400|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0000369 PMID:18414213|PMID:22435031|PMID:25741868|RGD:8554872 IAGP RGD:9682850 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0000467 MIM:310400|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0000478 ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0000508 RGD:8554872 IAGP RGD:405867394 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0000544 MIM:310400|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0000689 MIM:310400|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0000807 ORPHA:456328|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0000808 ORPHA:456328|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0000821 PMID:10063835|PMID:18414213|PMID:25741868|PMID:28492532|PMID:30241883|PMID:9285787|PMID:9305655|RGD:8554872 IAGP RGD:8562126 H myotubularin 1 gene taxon:9606 20260602 ClinVar RGD 1312103 MTM1 HP:0000883 ORPHA:456328|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0001166 MIM:310400|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0001252 PMID:10790201|PMID:12031625|PMID:25741868|PMID:25957634|PMID:28492532|RGD:8554872 IAGP RGD:151814766 H myotubularin 1 gene taxon:9606 20260609 ClinVar RGD 1312103 MTM1 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:405852646 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0001265 PMID:10063835|PMID:10502779|PMID:10714588|PMID:10900271|PMID:11793470|PMID:12031625|PMID:12118066|PMID:17537630|PMID:18414213|PMID:2352255|PMID:25741868|PMID:28492532|PMID:28685322|PMID:8640223|RGD:8554872 IAGP RGD:9682804 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0001265 PMID:18414213|PMID:22435031|PMID:25741868|RGD:8554872 IAGP RGD:9682850 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0001270 MIM:310400|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0001284 MIM:310400|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0001290 ORPHA:456328|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0001290 PMID:18414213|PMID:22435031|PMID:25741868|RGD:8554872 IAGP RGD:9682850 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:127286245 H myotubularin 1 gene taxon:9606 20210706 ClinVar RGD 1312103 MTM1 HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:329351496 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0001298 PMID:10063835|PMID:18414213|PMID:25741868|PMID:28492532|PMID:30241883|PMID:9285787|PMID:9305655|RGD:8554872 IAGP RGD:8562126 H myotubularin 1 gene taxon:9606 20260602 ClinVar RGD 1312103 MTM1 HP:0001302 PMID:25741868|RGD:8554872 IAGP RGD:329351496 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0001305 MIM:310400|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0001319 MIM:310400|ORPHA:596|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0001319 PMID:25741868|RGD:8554872 IAGP RGD:405852646 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0001320 PMID:25741868|RGD:8554872 IAGP RGD:329351496 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0001324 RGD:8554872 IAGP RGD:405867394 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0001371 MIM:310400|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0001382 ORPHA:456328|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0001419 MIM:310400|PMID:8640223|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0001508 RGD:8554872 IAGP RGD:713709838 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0001558 MIM:310400|ORPHA:596|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0001558 PMID:25741868|RGD:8554872 IAGP RGD:329351496 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0001561 MIM:310400|ORPHA:456328|ORPHA:596|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20260209 HPO RGD 1312103 MTM1 HP:0001622 MIM:310400|ORPHA:596|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0001622 PMID:18414213|PMID:22435031|PMID:25741868|RGD:8554872 IAGP RGD:9682850 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0001643 PMID:18414213|PMID:22435031|PMID:25741868|RGD:8554872 IAGP RGD:9682850 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0001939 PMID:32581362|RGD:8554872 IAGP RGD:21404956 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0001999 ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0002015 PMID:10790201|PMID:12031625|PMID:25741868|PMID:25957634|PMID:28492532|RGD:8554872 IAGP RGD:151814766 H myotubularin 1 gene taxon:9606 20260609 ClinVar RGD 1312103 MTM1 HP:0002015 RGD:8554872 IAGP RGD:405867394 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0002015 RGD:8554872 IAGP RGD:713709838 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0002021 MIM:310400|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0002033 ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0002058 PMID:10790201|PMID:12031625|PMID:25741868|PMID:25957634|PMID:28492532|RGD:8554872 IAGP RGD:151814766 H myotubularin 1 gene taxon:9606 20260609 ClinVar RGD 1312103 MTM1 HP:0002090 ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0002093 ORPHA:456328|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0002093 PMID:10790201|PMID:12031625|PMID:25741868|PMID:25957634|PMID:28492532|RGD:8554872 IAGP RGD:151814766 H myotubularin 1 gene taxon:9606 20260609 ClinVar RGD 1312103 MTM1 HP:0002093 RGD:8554872 IAGP RGD:405867394 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0002098 ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0002098 PMID:25741868|RGD:8554872 IAGP RGD:405852646 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0002205 ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0002375 MIM:310400|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0002540 ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0002643 MIM:310400|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0002861 RGD:8554872 IAGP RGD:713557607 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0002861 RGD:8554872 IAGP RGD:713558429 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0002910 MIM:310400|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0003202 RGD:8554872 IAGP RGD:405867394 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0003244 ORPHA:456328|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0003324 MIM:310400|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0003517 MIM:310400|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0003687 ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0003755 ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0004325 RGD:8554872 IAGP RGD:713709838 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0004887 MIM:310400|ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250416 HPO RGD 1312103 MTM1 HP:0006770 PMID:10063835|PMID:16199547|PMID:27353517|PMID:28492532|PMID:9305655|RGD:8554872 IAGP RGD:713409417 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 PMID:18414213|PMID:28492532|RGD:8554872 IAGP RGD:9682895 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 PMID:18414213|RGD:8554872 IAGP RGD:9682807 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 PMID:18414213|RGD:8554872 IAGP RGD:9682828 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 PMID:18414213|RGD:8554872 IAGP RGD:9682896 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 PMID:28492532|RGD:8554872 IAGP RGD:127282400 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 PMID:28492532|RGD:8554872 IAGP RGD:152052635 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 PMID:28492532|RGD:8554872 IAGP RGD:597893362 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713557248 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713557259 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713557274 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713557292 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713557355 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713557372 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713557511 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713557620 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713557700 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713557812 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713557858 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713557965 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713557978 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558013 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558043 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558072 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558121 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558139 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558199 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558226 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558245 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558258 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558273 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558288 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558306 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558327 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558355 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558368 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558385 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558472 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558484 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558529 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558542 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558565 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558591 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558626 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:713558659 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:714161916 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:714161928 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:714161950 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:714161959 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:714161964 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:714161968 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:714161971 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:714161980 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006770 RGD:8554872 IAGP RGD:714161984 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0006829 MIM:310400|ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250416 HPO RGD 1312103 MTM1 HP:0008872 ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0009067 PMID:10063835|PMID:18414213|PMID:25741868|PMID:28492532|PMID:30241883|PMID:9285787|PMID:9305655|RGD:8554872 IAGP RGD:8562126 H myotubularin 1 gene taxon:9606 20260602 ClinVar RGD 1312103 MTM1 HP:0009110 MIM:310400|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0010628 MIM:310400|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0011308 MIM:310400|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0011410 MIM:310400|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0011458 RGD:8554872 IAGP RGD:713709838 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0011968 ORPHA:456328|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0011968 RGD:8554872 IAGP RGD:713709838 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0012126 RGD:8554872 IAGP RGD:14731461 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0012638 RGD:8554872 IAGP RGD:713709838 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0025270 RGD:8554872 IAGP RGD:713709838 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0030192 ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0030195 ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0030319 ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0030917 ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0030918 MIM:310400|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0030919 MIM:310400|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0031238 ORPHA:596|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0033454 MIM:310400|PMID:9931531|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20250912 HPO RGD 1312103 MTM1 HP:0040314 ORPHA:456328|RGD:8699517 IAGP H myotubularin 1 gene taxon:9606 20230821 HPO RGD 1312103 MTM1 HP:0100242 RGD:8554872 IAGP RGD:713558639 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0100526 RGD:8554872 IAGP RGD:14731461 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312103 MTM1 HP:0100615 RGD:8554872 IAGP RGD:14731461 H myotubularin 1 gene taxon:9606 20260519 ClinVar RGD 1312105 AGO4 HP:0002861 RGD:8554872 IAGP RGD:714181584 H argonaute RISC component 4 gene taxon:9606 20260519 ClinVar RGD 1312105 AGO4 HP:0004808 RGD:8554872 IAGP RGD:713679639 H argonaute RISC component 4 gene taxon:9606 20260519 ClinVar RGD 1312105 AGO4 HP:0004808 RGD:8554872 IAGP RGD:713703176 H argonaute RISC component 4 gene taxon:9606 20260519 ClinVar RGD 1312105 AGO4 HP:0004808 RGD:8554872 IAGP RGD:713703516 H argonaute RISC component 4 gene taxon:9606 20260519 ClinVar RGD 1312105 AGO4 HP:0004808 RGD:8554872 IAGP RGD:713707222 H argonaute RISC component 4 gene taxon:9606 20260519 ClinVar RGD 1312105 AGO4 HP:0004808 RGD:8554872 IAGP RGD:713707407 H argonaute RISC component 4 gene taxon:9606 20260519 ClinVar RGD 1312105 AGO4 HP:0006770 RGD:8554872 IAGP RGD:714181593 H argonaute RISC component 4 gene taxon:9606 20260519 ClinVar RGD 1312105 AGO4 HP:0011797 RGD:8554872 IAGP RGD:713679570 H argonaute RISC component 4 gene taxon:9606 20260519 ClinVar RGD 1312105 AGO4 HP:0011797 RGD:8554872 IAGP RGD:713679677 H argonaute RISC component 4 gene taxon:9606 20260519 ClinVar RGD 1312105 AGO4 HP:0011797 RGD:8554872 IAGP RGD:713700081 H argonaute RISC component 4 gene taxon:9606 20260519 ClinVar RGD 1312105 AGO4 HP:0011797 RGD:8554872 IAGP RGD:713707313 H argonaute RISC component 4 gene taxon:9606 20260519 ClinVar RGD 1312105 AGO4 HP:0030732 PMID:25741868|RGD:8554872 IAGP RGD:34888545 H argonaute RISC component 4 gene taxon:9606 20260519 ClinVar RGD 1312107 FBXO28 HP:0000006 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0000212 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0000218 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0000252 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0000347 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0000348 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0000455 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0000486 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0000494 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0000504 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0000508 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0000546 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0000549 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0000565 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0000639 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0000648 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0000664 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0000668 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0000691 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0000708 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0000717 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0000733 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0000750 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0000954 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0001028 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0001156 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0001249 MIM:619777|ORPHA:442835|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0001250 MIM:619777|ORPHA:442835|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0001250 RGD:8554872 IAGP RGD:152978354 H F-box protein 28 gene taxon:9606 20260519 ClinVar RGD 1312107 FBXO28 HP:0001251 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0001252 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0001257 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0001263 MIM:619777|ORPHA:442835|PMID:30160831|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0001265 MIM:619777|ORPHA:442835|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0001266 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0001268 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0001273 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0001284 MIM:619777|PMID:30160831|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0001288 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20240815 HPO RGD 1312107 FBXO28 HP:0001290 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0001298 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0001302 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0001315 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0001328 RGD:8554872 IAGP RGD:152978354 H F-box protein 28 gene taxon:9606 20260519 ClinVar RGD 1312107 FBXO28 HP:0001336 MIM:619777|ORPHA:442835|PMID:30160831|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0001337 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0001508 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0001558 MIM:619777|ORPHA:442835|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0001804 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002015 MIM:619777|PMID:30160831|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002020 MIM:619777|ORPHA:442835|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002059 MIM:619777|ORPHA:442835|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002063 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0002066 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002069 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002072 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002119 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002126 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002133 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0002188 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002205 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002280 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002307 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002317 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0002373 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002376 MIM:619777|ORPHA:442835|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002421 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0002509 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0002521 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0002650 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002665 RGD:8554872 IAGP RGD:713821663 H F-box protein 28 gene taxon:9606 20260519 ClinVar RGD 1312107 FBXO28 HP:0002835 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002870 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0002987 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0004305 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0004322 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0004808 RGD:8554872 IAGP RGD:714096458 H F-box protein 28 gene taxon:9606 20260519 ClinVar RGD 1312107 FBXO28 HP:0005280 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0005617 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0005619 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0006297 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0006770 RGD:8554872 IAGP RGD:713384832 H F-box protein 28 gene taxon:9606 20260519 ClinVar RGD 1312107 FBXO28 HP:0007018 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0007359 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0008936 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0010536 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0010804 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0010808 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0010844 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0010852 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0011147 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0011443 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0011968 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0012389 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0012444 MIM:619777|ORPHA:442835|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0012447 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0012450 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0012469 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0012547 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0012708 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0012745 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0030153 RGD:8554872 IAGP RGD:713383642 H F-box protein 28 gene taxon:9606 20260519 ClinVar RGD 1312107 FBXO28 HP:0030153 RGD:8554872 IAGP RGD:713739437 H F-box protein 28 gene taxon:9606 20260519 ClinVar RGD 1312107 FBXO28 HP:0030359 RGD:8554872 IAGP RGD:713384703 H F-box protein 28 gene taxon:9606 20260519 ClinVar RGD 1312107 FBXO28 HP:0031045 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0032667 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0032792 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0032794 MIM:619777|PMID:30160831|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0033725 MIM:619777|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0100242 RGD:8554872 IAGP RGD:713739437 H F-box protein 28 gene taxon:9606 20260519 ClinVar RGD 1312107 FBXO28 HP:0100522 RGD:8554872 IAGP RGD:713384727 H F-box protein 28 gene taxon:9606 20260519 ClinVar RGD 1312107 FBXO28 HP:0100615 RGD:8554872 IAGP RGD:713821647 H F-box protein 28 gene taxon:9606 20260519 ClinVar RGD 1312107 FBXO28 HP:0100660 MIM:619777|ORPHA:442835|PMID:33280099|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312107 FBXO28 HP:0100710 ORPHA:442835|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20230821 HPO RGD 1312107 FBXO28 HP:0200055 MIM:619777|PMID:30160831|RGD:8699517 IAGP H F-box protein 28 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0000007 MIM:242500|MIM:601277|PMID:12915478|PMID:15756637|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0000083 ORPHA:313|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0000164 ORPHA:313|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0000232 MIM:242500|ORPHA:313|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250416 HPO RGD 1312110 ABCA12 HP:0000364 ORPHA:457|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0000365 ORPHA:79394|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0000377 PMID:25741868|RGD:8554872 IAGP RGD:714141570 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0000389 ORPHA:313|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0000457 ORPHA:457|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0000491 ORPHA:79394|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0000496 PMID:28492532|RGD:8554872 IAGP RGD:153350072 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0000518 ORPHA:457|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0000520 MIM:242500|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0000656 MIM:242500|MIM:601277|ORPHA:313|ORPHA:457|ORPHA:79394|PMID:12915478|PMID:15756637|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0000656 PMID:16199547|PMID:20672373|PMID:28492532|RGD:8554872 IAGP RGD:13784850 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0000656 PMID:19664001|PMID:20672373|PMID:25741868|PMID:28492532|PMID:29880184|RGD:8554872 IAGP RGD:11559870 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0000656 PMID:25741868|RGD:8554872 IAGP RGD:714141558 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0000722 PMID:28492532|RGD:8554872 IAGP RGD:153350072 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0000736 PMID:28492532|RGD:8554872 IAGP RGD:153350072 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0000872 PMID:12915478|PMID:25741868|PMID:28492532|PMID:29722424|PMID:29887490|PMID:30916489|PMID:31168818|PMID:32851342|RGD:8554872 IAGP RGD:8557047 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260602 ClinVar RGD 1312110 ABCA12 HP:0000951 PMID:25741868|RGD:8554872 IAGP RGD:151349357 H ATP binding cassette subfamily A member 12 gene taxon:9606 20220208 ClinVar RGD 1312110 ABCA12 HP:0000958 ORPHA:313|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0000962 ORPHA:313|ORPHA:457|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250416 HPO RGD 1312110 ABCA12 HP:0000966 ORPHA:79394|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0000982 MIM:601277|ORPHA:79394|PMID:12915478|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0000989 ORPHA:313|ORPHA:79394|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250416 HPO RGD 1312110 ABCA12 HP:0001019 ORPHA:313|ORPHA:457|ORPHA:79394|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250416 HPO RGD 1312110 ABCA12 HP:0001161 ORPHA:457|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0001217 MIM:601277|PMID:12915478|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0001258 MIM:601277|PMID:12915478|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0001270 MIM:242500|PMID:15756637|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0001290 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11596399 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0001290 PMID:28492532|RGD:8554872 IAGP RGD:153350072 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0001298 PMID:28492532|RGD:8554872 IAGP RGD:153350072 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0001376 ORPHA:457|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0001433 MIM:601277|PMID:12915478|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0001508 MIM:242500|ORPHA:79394|PMID:15756637|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0001508 PMID:28492532|RGD:8554872 IAGP RGD:153350072 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0001522 MIM:242500|PMID:15756637|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0001596 ORPHA:79394|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0001597 ORPHA:313|ORPHA:79394|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250416 HPO RGD 1312110 ABCA12 HP:0001622 MIM:242500|PMID:15756637|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0001645 ORPHA:457|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0001738 PMID:12915478|PMID:25741868|PMID:28492532|PMID:29722424|PMID:29887490|PMID:30916489|PMID:31168818|PMID:32851342|RGD:8554872 IAGP RGD:8557047 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260602 ClinVar RGD 1312110 ABCA12 HP:0001820 MIM:601277|PMID:12915478|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0001829 ORPHA:457|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0001943 PMID:12915478|PMID:25741868|PMID:28492532|PMID:29722424|PMID:29887490|PMID:30916489|PMID:31168818|PMID:32851342|RGD:8554872 IAGP RGD:8557047 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260602 ClinVar RGD 1312110 ABCA12 HP:0001944 ORPHA:313|ORPHA:457|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250416 HPO RGD 1312110 ABCA12 HP:0002045 PMID:16199547|PMID:20672373|PMID:28492532|RGD:8554872 IAGP RGD:13784850 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0002045 PMID:19664001|PMID:20672373|PMID:25741868|PMID:28492532|PMID:29880184|RGD:8554872 IAGP RGD:11559870 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0002047 ORPHA:457|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0002063 MIM:242500|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0002093 ORPHA:457|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0002205 ORPHA:313|ORPHA:457|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250416 HPO RGD 1312110 ABCA12 HP:0002665 RGD:8554872 IAGP RGD:713817687 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0002861 RGD:8554872 IAGP RGD:713359331 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0002861 RGD:8554872 IAGP RGD:713817626 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0003577 MIM:242500|MIM:601277|PMID:12915478|PMID:15756637|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0003811 MIM:242500|PMID:15756637|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0004322 ORPHA:313|ORPHA:79394|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250416 HPO RGD 1312110 ABCA12 HP:0004322 PMID:12915478|PMID:25741868|PMID:28492532|PMID:29722424|PMID:29887490|PMID:30916489|PMID:31168818|PMID:32851342|RGD:8554872 IAGP RGD:8557047 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260602 ClinVar RGD 1312110 ABCA12 HP:0004325 PMID:12915478|PMID:25741868|PMID:28492532|PMID:29722424|PMID:29887490|PMID:30916489|PMID:31168818|PMID:32851342|RGD:8554872 IAGP RGD:8557047 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260602 ClinVar RGD 1312110 ABCA12 HP:0007431 MIM:242500|ORPHA:457|PMID:15756637|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0007431 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401855634 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0007431 PMID:25741868|RGD:8554872 IAGP RGD:155268416 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0007431 PMID:25741868|RGD:8554872 IAGP RGD:329951877 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0007479 MIM:601277|PMID:12915478|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250912 HPO RGD 1312110 ABCA12 HP:0007503 PMID:12915478|PMID:25741868|PMID:28492532|PMID:29722424|PMID:29887490|PMID:30916489|PMID:31168818|PMID:32851342|RGD:8554872 IAGP RGD:8557047 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260602 ClinVar RGD 1312110 ABCA12 HP:0008064 ORPHA:313|ORPHA:457|ORPHA:79394|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20250416 HPO RGD 1312110 ABCA12 HP:0008064 PMID:12915478|PMID:25741868|PMID:28492532|PMID:30600594|PMID:36980989|RGD:8554872 IAGP RGD:151729282 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0008064 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401855634 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0008064 PMID:25741868|RGD:8554872 IAGP RGD:401855170 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0008064 PMID:25741868|RGD:8554872 IAGP RGD:596944486 H ATP binding cassette subfamily A member 12 gene taxon:9606 20250107 ClinVar RGD 1312110 ABCA12 HP:0008064 PMID:25741868|RGD:8554872 IAGP RGD:596944488 H ATP binding cassette subfamily A member 12 gene taxon:9606 20250107 ClinVar RGD 1312110 ABCA12 HP:0008064 PMID:25741868|RGD:8554872 IAGP RGD:596944491 H ATP binding cassette subfamily A member 12 gene taxon:9606 20250107 ClinVar RGD 1312110 ABCA12 HP:0008064 PMID:25741868|RGD:8554872 IAGP RGD:713624032 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0008064 PMID:25741868|RGD:8554872 IAGP RGD:736709017 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260707 ClinVar RGD 1312110 ABCA12 HP:0008070 ORPHA:313|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0009381 MIM:242500|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0011039 ORPHA:313|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:153350072 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0011797 RGD:8554872 IAGP RGD:713385033 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0011797 RGD:8554872 IAGP RGD:713786699 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0012126 RGD:8554872 IAGP RGD:713507579 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0012472 ORPHA:457|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0012472 PMID:16199547|PMID:20672373|PMID:28492532|RGD:8554872 IAGP RGD:13784850 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0012472 PMID:19664001|PMID:20672373|PMID:25741868|PMID:28492532|PMID:29880184|RGD:8554872 IAGP RGD:11559870 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0100522 RGD:8554872 IAGP RGD:713378817 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0100543 ORPHA:313|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0100543 PMID:28492532|RGD:8554872 IAGP RGD:153350072 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0100678 PMID:22257947|PMID:25741868|RGD:8554872 IAGP RGD:151729171 H ATP binding cassette subfamily A member 12 gene taxon:9606 20260519 ClinVar RGD 1312110 ABCA12 HP:0100679 ORPHA:313|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0100716 ORPHA:457|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0100758 ORPHA:313|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0100806 ORPHA:313|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0100840 ORPHA:313|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312110 ABCA12 HP:0200020 ORPHA:79394|RGD:8699517 IAGP H ATP binding cassette subfamily A member 12 gene taxon:9606 20230821 HPO RGD 1312112 C1orf35 HP:0001402 RGD:8554872 IAGP RGD:713350557 H chromosome 1 open reading frame 35 gene taxon:9606 20260519 ClinVar RGD 1312112 C1orf35 HP:0001402 RGD:8554872 IAGP RGD:714158962 H chromosome 1 open reading frame 35 gene taxon:9606 20260519 ClinVar RGD 1312112 C1orf35 HP:0004808 RGD:8554872 IAGP RGD:714098368 H chromosome 1 open reading frame 35 gene taxon:9606 20260519 ClinVar RGD 1312112 C1orf35 HP:0030153 RGD:8554872 IAGP RGD:714100452 H chromosome 1 open reading frame 35 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0000007 MIM:609628|PMID:15994876|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20260209 HPO RGD 1312114 LPIN2 HP:0000093 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0000118 PMID:28492532|RGD:8554872 IAGP RGD:151762066 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0000823 MIM:609628|PMID:27252506|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20251023 HPO RGD 1312114 LPIN2 HP:0000969 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0000988 MIM:609628|PMID:15994876|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0001061 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0001369 PMID:25741868|RGD:8554872 IAGP RGD:127230456 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0001371 MIM:609628|ORPHA:77297|PMID:15994876|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0001386 MIM:609628|PMID:27252506|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0001433 MIM:609628|PMID:10969284|PMID:27252506|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0001433 PMID:25741868|RGD:8554872 IAGP RGD:151662810 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0001508 MIM:609628|ORPHA:77297|PMID:10969284|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0001510 MIM:609628|PMID:15994876|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0001744 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0001824 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0001824 PMID:25741868|RGD:8554872 IAGP RGD:151662810 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0001873 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12839970 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0001894 PMID:25741868|RGD:8554872 IAGP RGD:127230456 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0001935 MIM:609628|PMID:27252506|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0001945 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0001954 MIM:609628|PMID:15994876|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0001954 PMID:25741868|RGD:8554872 IAGP RGD:713956145 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0001974 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0002024 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0002113 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0002240 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0002315 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20251023 HPO RGD 1312114 LPIN2 HP:0002653 MIM:609628|ORPHA:77297|PMID:15994876|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0002659 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0002715 PMID:25741868|RGD:8554872 IAGP RGD:151662810 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0002721 PMID:25741868|RGD:8554872 IAGP RGD:151662810 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0002721 PMID:25741868|RGD:8554872 IAGP RGD:713956145 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0002725 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14729607 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0002750 MIM:609628|PMID:10969284|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0002754 MIM:609628|ORPHA:77297|PMID:15994876|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0002754 PMID:25741868|RGD:8554872 IAGP RGD:127230456 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0002829 MIM:609628|ORPHA:77297|PMID:15994876|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0002863 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12839970 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0002907 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0003025 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0003326 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0003565 MIM:609628|PMID:10969284|PMID:27252506|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0003765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8644356 H lipin 2 gene taxon:9606 20210323 ClinVar RGD 1312114 LPIN2 HP:0004326 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0004810 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0004840 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0005561 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0005575 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12839970 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0010972 MIM:609628|PMID:15994876|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0011001 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20251023 HPO RGD 1312114 LPIN2 HP:0011123 MIM:609628|ORPHA:77297|PMID:15994876|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0012126 RGD:8554872 IAGP RGD:28895612 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0012126 RGD:8554872 IAGP RGD:714268992 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0012132 MIM:609628|PMID:10969284|PMID:27252506|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0012647 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0012647 PMID:25741868|RGD:8554872 IAGP RGD:151662810 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0012735 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0025066 MIM:609628|PMID:10969284|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20250912 HPO RGD 1312114 LPIN2 HP:0100242 RGD:8554872 IAGP RGD:713738649 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0100522 PMID:25741868|RGD:8554872 IAGP RGD:150485685 H lipin 2 gene taxon:9606 20260519 ClinVar RGD 1312114 LPIN2 HP:0100769 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0100820 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0200034 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312114 LPIN2 HP:0200039 ORPHA:77297|RGD:8699517 IAGP H lipin 2 gene taxon:9606 20230821 HPO RGD 1312116 SNAPC2 HP:0001402 RGD:8554872 IAGP RGD:713367598 H small nuclear RNA activating complex polypeptide 2 gene taxon:9606 20260519 ClinVar RGD 1312116 SNAPC2 HP:0001402 RGD:8554872 IAGP RGD:713367621 H small nuclear RNA activating complex polypeptide 2 gene taxon:9606 20260519 ClinVar RGD 1312116 SNAPC2 HP:0011797 RGD:8554872 IAGP RGD:713834274 H small nuclear RNA activating complex polypeptide 2 gene taxon:9606 20260519 ClinVar RGD 1312119 ART1 HP:0007716 RGD:8554872 IAGP RGD:713793176 H ADP-ribosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0000007 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0000014 PMID:28492532|RGD:8554872 IAGP RGD:156300660 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0000028 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000047 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000083 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000089 PMID:19008299|PMID:25741868|PMID:29127259|RGD:8554872 IAGP RGD:8557569 H component of oligomeric golgi complex 1 gene taxon:9606 20260707 ClinVar RGD 1312123 COG1 HP:0000100 PMID:19008299|PMID:25741868|PMID:29127259|RGD:8554872 IAGP RGD:8557569 H component of oligomeric golgi complex 1 gene taxon:9606 20260707 ClinVar RGD 1312123 COG1 HP:0000126 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000160 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000162 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:156300660 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0000175 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0000193 PMID:19008299|PMID:25741868|PMID:29127259|RGD:8554872 IAGP RGD:8557569 H component of oligomeric golgi complex 1 gene taxon:9606 20260707 ClinVar RGD 1312123 COG1 HP:0000201 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000218 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000219 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000252 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0000252 PMID:19008299|PMID:25741868|PMID:29127259|RGD:8554872 IAGP RGD:8557569 H component of oligomeric golgi complex 1 gene taxon:9606 20260707 ClinVar RGD 1312123 COG1 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:401856616 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0000253 MIM:611209|ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250416 HPO RGD 1312123 COG1 HP:0000274 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000316 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000319 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000343 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0000347 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000358 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000369 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000402 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000405 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000431 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000463 MIM:611209|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0000470 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0000475 ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0000494 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000520 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0000582 MIM:611209|PMID:16537452|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000750 MIM:611209|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0000902 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000938 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0000954 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0000978 PMID:28492532|RGD:8554872 IAGP RGD:156300660 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0001103 ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0001252 MIM:611209|PMID:16537452|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:401856616 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0001256 ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0001263 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0001263 PMID:19008299|PMID:25741868|PMID:29127259|RGD:8554872 IAGP RGD:8557569 H component of oligomeric golgi complex 1 gene taxon:9606 20260707 ClinVar RGD 1312123 COG1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:401856616 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0001272 MIM:611209|PMID:16537452|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0001290 ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0001320 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0001433 ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0001508 ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0001511 MIM:611209|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0001525 PMID:19008299|PMID:25741868|PMID:29127259|RGD:8554872 IAGP RGD:8557569 H component of oligomeric golgi complex 1 gene taxon:9606 20260707 ClinVar RGD 1312123 COG1 HP:0001531 MIM:611209|PMID:16537452|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0001712 MIM:611209|PMID:16537452|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0001762 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0001773 MIM:611209|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0001787 PMID:28492532|RGD:8554872 IAGP RGD:156300660 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0001873 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0001873 PMID:19008299|PMID:25741868|PMID:29127259|RGD:8554872 IAGP RGD:8557569 H component of oligomeric golgi complex 1 gene taxon:9606 20260707 ClinVar RGD 1312123 COG1 HP:0001877 PMID:28492532|RGD:8554872 IAGP RGD:156300660 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0001902 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0001903 MIM:611209|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20251023 HPO RGD 1312123 COG1 HP:0001999 ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0002059 MIM:611209|PMID:16537452|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0002092 ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0002280 ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0002342 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0002577 PMID:28492532|RGD:8554872 IAGP RGD:156300660 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0002659 PMID:28492532|RGD:8554872 IAGP RGD:156300660 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0002673 ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0002719 MIM:611209|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:156300660 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0002751 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0002943 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0003026 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0003090 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0003177 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0003180 ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0003182 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0003316 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0003422 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0003577 MIM:611209|PMID:16537452|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0004322 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0004582 ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0004808 RGD:8554872 IAGP RGD:714186286 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0005575 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0006429 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0006610 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0006956 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0007033 ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0007112 ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0008551 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0008872 MIM:611209|PMID:16537452|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0008897 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0008905 MIM:611209|ORPHA:263508|PMID:16537452|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0009465 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0009797 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0010674 PMID:28492532|RGD:8554872 IAGP RGD:156300660 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0011342 MIM:611209|ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250416 HPO RGD 1312123 COG1 HP:0011800 MIM:611209|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:156300660 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0011995 ORPHA:263508|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20230821 HPO RGD 1312123 COG1 HP:0012125 RGD:8554872 IAGP RGD:9687039 H component of oligomeric golgi complex 1 gene taxon:9606 20250708 ClinVar RGD 1312123 COG1 HP:0012125 RGD:8554872 IAGP RGD:9687040 H component of oligomeric golgi complex 1 gene taxon:9606 20250708 ClinVar RGD 1312123 COG1 HP:0012126 RGD:8554872 IAGP RGD:714185004 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0012301 MIM:611209|ORPHA:263508|PMID:16537452|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0012385 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0012444 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0020045 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0030282 MIM:611209|ORPHA:263508|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312123 COG1 HP:0031936 MIM:611209|PMID:19008299|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20260209 HPO RGD 1312123 COG1 HP:0100242 RGD:8554872 IAGP RGD:713357832 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0100242 RGD:8554872 IAGP RGD:713357883 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0100242 RGD:8554872 IAGP RGD:713357917 H component of oligomeric golgi complex 1 gene taxon:9606 20260519 ClinVar RGD 1312123 COG1 HP:0200055 MIM:611209|PMID:16537452|RGD:8699517 IAGP H component of oligomeric golgi complex 1 gene taxon:9606 20250912 HPO RGD 1312125 TMEM268 HP:0004808 RGD:8554872 IAGP RGD:714256197 H transmembrane protein 268 gene taxon:9606 20260519 ClinVar RGD 1312125 TMEM268 HP:0011797 RGD:8554872 IAGP RGD:714256182 H transmembrane protein 268 gene taxon:9606 20260519 ClinVar RGD 1312125 TMEM268 HP:0030153 RGD:8554872 IAGP RGD:713510690 H transmembrane protein 268 gene taxon:9606 20260519 ClinVar RGD 1312128 NDUFA7 HP:0100526 RGD:8554872 IAGP RGD:713560877 H NADH:ubiquinone oxidoreductase subunit A7 gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0000006 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000007 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000114 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000194 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000218 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000252 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000286 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000463 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000486 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000577 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000590 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000592 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000601 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:401940447 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:408393936 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0000750 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:714020924 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0000767 PMID:25741868|RGD:8554872 IAGP RGD:714020924 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0000805 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000954 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0000958 PMID:25741868|RGD:8554872 IAGP RGD:714020924 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0001034 PMID:25741868|RGD:8554872 IAGP RGD:714020924 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0001249 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0001250 PMID:25741868|PMID:33602924|RGD:8554872 IAGP RGD:714118427 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0001252 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0001252 PMID:25741868|PMID:33602924|RGD:8554872 IAGP RGD:714118427 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0001263 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0001263 PMID:25741868|PMID:33602924|RGD:8554872 IAGP RGD:714118427 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:714020924 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0001324 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0001344 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0001488 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0001510 PMID:25741868|RGD:8554872 IAGP RGD:714020924 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0001657 RGD:8554872 IAGP RGD:10398616 H RNA polymerase mitochondrial gene taxon:9606 20260602 ClinVar RGD 1312131 POLRMT HP:0001762 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0001822 PMID:25741868|RGD:8554872 IAGP RGD:714020924 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0001873 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0001903 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0001992 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0001994 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0002019 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0002119 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0002148 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0002151 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0002212 PMID:25741868|RGD:8554872 IAGP RGD:714020924 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0002857 PMID:25741868|RGD:8554872 IAGP RGD:714020924 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0002861 RGD:8554872 IAGP RGD:713681698 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0002861 RGD:8554872 IAGP RGD:713681856 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0002917 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0002970 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0003198 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0003202 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0003202 PMID:25741868|RGD:8554872 IAGP RGD:714020924 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0003236 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0003593 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0003596 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0003701 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0004322 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0004808 RGD:8554872 IAGP RGD:713833863 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0004912 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0005101 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0005280 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0007359 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0007716 RGD:8554872 IAGP RGD:713833863 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0008180 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0009759 PMID:25741868|RGD:8554872 IAGP RGD:714020924 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0010602 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0011342 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0011344 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0011462 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0011463 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0011797 RGD:8554872 IAGP RGD:713843395 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0012126 PMID:25741868|RGD:8554872 IAGP RGD:243051476 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0012126 RGD:8554872 IAGP RGD:713770793 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0012126 RGD:8554872 IAGP RGD:713770856 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0012126 RGD:8554872 IAGP RGD:713770879 H RNA polymerase mitochondrial gene taxon:9606 20260707 ClinVar RGD 1312131 POLRMT HP:0012126 RGD:8554872 IAGP RGD:713770897 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0012126 RGD:8554872 IAGP RGD:713833863 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0012408 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0012625 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0012707 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0030153 PMID:25741868|RGD:8554872 IAGP RGD:243051476 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0031150 PMID:25741868|RGD:8554872 IAGP RGD:714020924 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0033725 MIM:619743|PMID:33602924|RGD:8699517 IAGP H RNA polymerase mitochondrial gene taxon:9606 20250912 HPO RGD 1312131 POLRMT HP:0034323 PMID:25741868|RGD:8554872 IAGP RGD:714020924 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0100242 RGD:8554872 IAGP RGD:713681604 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0100242 RGD:8554872 IAGP RGD:713833863 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0100526 RGD:8554872 IAGP RGD:713681842 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0100526 RGD:8554872 IAGP RGD:713681872 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0100526 RGD:8554872 IAGP RGD:713681973 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312131 POLRMT HP:0100774 PMID:25741868|RGD:8554872 IAGP RGD:714020924 H RNA polymerase mitochondrial gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0000007 MIM:619489|PMID:26902202|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20260209 HPO RGD 1312133 PAPPA2 HP:0000252 MIM:619489|PMID:26902202|PMID:34272725|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20260209 HPO RGD 1312133 PAPPA2 HP:0000325 MIM:619489|PMID:34272725|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20250912 HPO RGD 1312133 PAPPA2 HP:0000331 MIM:619489|PMID:26902202|PMID:34272725|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20250912 HPO RGD 1312133 PAPPA2 HP:0000684 MIM:619489|PMID:26902202|PMID:34272725|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20250912 HPO RGD 1312133 PAPPA2 HP:0000736 RGD:8554872 IAGP RGD:151663298 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0000938 MIM:619489|PMID:34272725|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20250912 HPO RGD 1312133 PAPPA2 HP:0001166 MIM:619489|PMID:34272725|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20250912 HPO RGD 1312133 PAPPA2 HP:0001328 MIM:619489|PMID:34272725|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20250912 HPO RGD 1312133 PAPPA2 HP:0001382 RGD:8554872 IAGP RGD:151663298 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0001508 RGD:8554872 IAGP RGD:151663298 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0001560 RGD:8554872 IAGP RGD:151663298 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0002665 RGD:8554872 IAGP RGD:714081403 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0002861 RGD:8554872 IAGP RGD:714081291 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0002861 RGD:8554872 IAGP RGD:714081647 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0003621 MIM:619489|PMID:34272725|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20251023 HPO RGD 1312133 PAPPA2 HP:0004322 MIM:619489|PMID:34272725|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20250912 HPO RGD 1312133 PAPPA2 HP:0004349 MIM:619489|PMID:26902202|PMID:34272725|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20250912 HPO RGD 1312133 PAPPA2 HP:0004808 RGD:8554872 IAGP RGD:714157213 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0006770 RGD:8554872 IAGP RGD:714081321 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0006770 RGD:8554872 IAGP RGD:714081342 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0006770 RGD:8554872 IAGP RGD:714081349 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0006770 RGD:8554872 IAGP RGD:714081893 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0006770 RGD:8554872 IAGP RGD:714081982 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0008283 MIM:619489|PMID:26902202|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20250912 HPO RGD 1312133 PAPPA2 HP:0008897 MIM:619489|PMID:26902202|PMID:34272725|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20260209 HPO RGD 1312133 PAPPA2 HP:0010511 MIM:619489|PMID:26902202|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20250912 HPO RGD 1312133 PAPPA2 HP:0011797 RGD:8554872 IAGP RGD:714158361 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0011968 RGD:8554872 IAGP RGD:151663298 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0012126 RGD:8554872 IAGP RGD:713561875 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0012126 RGD:8554872 IAGP RGD:713562126 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0012126 RGD:8554872 IAGP RGD:713562181 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0012126 RGD:8554872 IAGP RGD:713562229 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0030153 RGD:8554872 IAGP RGD:714081743 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0031107 MIM:619489|PMID:26902202|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20250912 HPO RGD 1312133 PAPPA2 HP:0034184 MIM:619489|PMID:34272725|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20250912 HPO RGD 1312133 PAPPA2 HP:0100242 RGD:8554872 IAGP RGD:713561973 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0100522 RGD:8554872 IAGP RGD:713562026 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0100522 RGD:8554872 IAGP RGD:714082273 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0100522 RGD:8554872 IAGP RGD:714082293 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0100526 RGD:8554872 IAGP RGD:714081331 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0100526 RGD:8554872 IAGP RGD:714082131 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0100526 RGD:8554872 IAGP RGD:714082185 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0100615 RGD:8554872 IAGP RGD:714081403 H pappalysin 2 gene taxon:9606 20260519 ClinVar RGD 1312133 PAPPA2 HP:0100807 MIM:619489|PMID:26902202|RGD:8699517 IAGP H pappalysin 2 gene taxon:9606 20250912 HPO RGD 1312137 NRF1 HP:0011797 RGD:8554872 IAGP RGD:713730692 H nuclear respiratory factor 1 gene taxon:9606 20260519 ClinVar RGD 1312137 NRF1 HP:0011797 RGD:8554872 IAGP RGD:713980872 H nuclear respiratory factor 1 gene taxon:9606 20260519 ClinVar RGD 1312137 NRF1 HP:0011797 RGD:8554872 IAGP RGD:713984032 H nuclear respiratory factor 1 gene taxon:9606 20260519 ClinVar RGD 1312137 NRF1 HP:0100242 RGD:8554872 IAGP RGD:713464994 H nuclear respiratory factor 1 gene taxon:9606 20260519 ClinVar RGD 1312137 NRF1 HP:0100242 RGD:8554872 IAGP RGD:713465010 H nuclear respiratory factor 1 gene taxon:9606 20260519 ClinVar RGD 1312139 SENP5 HP:0004808 RGD:8554872 IAGP RGD:713566387 H SUMO specific peptidase 5 gene taxon:9606 20260519 ClinVar RGD 1312139 SENP5 HP:0012126 RGD:8554872 IAGP RGD:713933549 H SUMO specific peptidase 5 gene taxon:9606 20260519 ClinVar RGD 1312139 SENP5 HP:0012126 RGD:8554872 IAGP RGD:713933563 H SUMO specific peptidase 5 gene taxon:9606 20260519 ClinVar RGD 1312139 SENP5 HP:0100242 RGD:8554872 IAGP RGD:713624671 H SUMO specific peptidase 5 gene taxon:9606 20260519 ClinVar RGD 1312139 SENP5 HP:0100242 RGD:8554872 IAGP RGD:713624681 H SUMO specific peptidase 5 gene taxon:9606 20260519 ClinVar RGD 1312139 SENP5 HP:0100526 RGD:8554872 IAGP RGD:713624646 H SUMO specific peptidase 5 gene taxon:9606 20260519 ClinVar RGD 1312139 SENP5 HP:0100526 RGD:8554872 IAGP RGD:713624661 H SUMO specific peptidase 5 gene taxon:9606 20260519 ClinVar RGD 1312139 SENP5 HP:0100615 RGD:8554872 IAGP RGD:713566387 H SUMO specific peptidase 5 gene taxon:9606 20260519 ClinVar RGD 1312142 AGR2 HP:0000007 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0000219 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0000403 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0000582 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0001252 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0001254 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0001263 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0001269 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0001270 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0001392 PMID:25741868|RGD:8554872 IAGP RGD:408368341 H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20260519 ClinVar RGD 1312142 AGR2 HP:0001396 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0001508 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0001634 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0001974 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0002013 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0002020 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0002028 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0002092 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0002094 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0002099 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0002110 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0002202 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0002240 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0002783 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0002875 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0003270 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0003577 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0003593 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0003623 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0005180 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0006530 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0011220 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0011463 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0012126 RGD:8554872 IAGP RGD:713660977 H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20260519 ClinVar RGD 1312142 AGR2 HP:0012236 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0012735 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0025179 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0030718 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0030828 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0030830 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0033542 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0034315 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0034388 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0100526 RGD:8554872 IAGP RGD:713497897 H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20260519 ClinVar RGD 1312142 AGR2 HP:0100721 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312142 AGR2 HP:0100750 MIM:620233|PMID:34952832|RGD:8699517 IAGP H anterior gradient 2, protein disulphide isomerase family member gene taxon:9606 20250912 HPO RGD 1312146 ACTR6 HP:0004808 RGD:8554872 IAGP RGD:714102145 H actin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312146 ACTR6 HP:0012126 RGD:8554872 IAGP RGD:713985657 H actin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312146 ACTR6 HP:0012126 RGD:8554872 IAGP RGD:714029533 H actin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312146 ACTR6 HP:0012126 RGD:8554872 IAGP RGD:714029547 H actin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312146 ACTR6 HP:0012126 RGD:8554872 IAGP RGD:714029585 H actin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312146 ACTR6 HP:0100526 RGD:8554872 IAGP RGD:713429891 H actin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312150 ZNF496 HP:0001402 RGD:8554872 IAGP RGD:713736464 H zinc finger protein 496 gene taxon:9606 20260519 ClinVar RGD 1312150 ZNF496 HP:0001402 RGD:8554872 IAGP RGD:713736484 H zinc finger protein 496 gene taxon:9606 20260519 ClinVar RGD 1312150 ZNF496 HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:714074894 H zinc finger protein 496 gene taxon:9606 20260519 ClinVar RGD 1312150 ZNF496 HP:0100526 RGD:8554872 IAGP RGD:713559129 H zinc finger protein 496 gene taxon:9606 20260519 ClinVar RGD 1312150 ZNF496 HP:0100526 RGD:8554872 IAGP RGD:713559375 H zinc finger protein 496 gene taxon:9606 20260519 ClinVar RGD 1312150 ZNF496 HP:0100615 RGD:8554872 IAGP RGD:713559393 H zinc finger protein 496 gene taxon:9606 20260519 ClinVar RGD 1312152 RASGRP3 HP:0002665 RGD:8554872 IAGP RGD:713769546 H RAS guanyl releasing protein 3 gene taxon:9606 20260519 ClinVar RGD 1312152 RASGRP3 HP:0004808 RGD:8554872 IAGP RGD:713789206 H RAS guanyl releasing protein 3 gene taxon:9606 20260519 ClinVar RGD 1312152 RASGRP3 HP:0004808 RGD:8554872 IAGP RGD:713794754 H RAS guanyl releasing protein 3 gene taxon:9606 20260519 ClinVar RGD 1312152 RASGRP3 HP:0006770 RGD:8554872 IAGP RGD:713769594 H RAS guanyl releasing protein 3 gene taxon:9606 20260519 ClinVar RGD 1312152 RASGRP3 HP:0007716 RGD:8554872 IAGP RGD:713789206 H RAS guanyl releasing protein 3 gene taxon:9606 20260707 ClinVar RGD 1312152 RASGRP3 HP:0012126 RGD:8554872 IAGP RGD:713789206 H RAS guanyl releasing protein 3 gene taxon:9606 20260707 ClinVar RGD 1312152 RASGRP3 HP:0030153 RGD:8554872 IAGP RGD:713789206 H RAS guanyl releasing protein 3 gene taxon:9606 20260707 ClinVar RGD 1312152 RASGRP3 HP:0100242 RGD:8554872 IAGP RGD:713769613 H RAS guanyl releasing protein 3 gene taxon:9606 20260519 ClinVar RGD 1312152 RASGRP3 HP:0100242 RGD:8554872 IAGP RGD:713789206 H RAS guanyl releasing protein 3 gene taxon:9606 20260707 ClinVar RGD 1312152 RASGRP3 HP:0100242 RGD:8554872 IAGP RGD:713794754 H RAS guanyl releasing protein 3 gene taxon:9606 20260519 ClinVar RGD 1312152 RASGRP3 HP:0100522 RGD:8554872 IAGP RGD:713769579 H RAS guanyl releasing protein 3 gene taxon:9606 20260519 ClinVar RGD 1312152 RASGRP3 HP:0100526 RGD:8554872 IAGP RGD:713769562 H RAS guanyl releasing protein 3 gene taxon:9606 20260519 ClinVar RGD 1312158 NOP2 HP:0002861 RGD:8554872 IAGP RGD:714068597 H NOP2 nucleolar protein gene taxon:9606 20260519 ClinVar RGD 1312158 NOP2 HP:0004808 RGD:8554872 IAGP RGD:713658249 H NOP2 nucleolar protein gene taxon:9606 20260519 ClinVar RGD 1312158 NOP2 HP:0011797 RGD:8554872 IAGP RGD:713656073 H NOP2 nucleolar protein gene taxon:9606 20260519 ClinVar RGD 1312158 NOP2 HP:0012126 RGD:8554872 IAGP RGD:713796454 H NOP2 nucleolar protein gene taxon:9606 20260519 ClinVar RGD 1312161 KDELR2 HP:0000007 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20260209 HPO RGD 1312161 KDELR2 HP:0000767 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20260209 HPO RGD 1312161 KDELR2 HP:0000926 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20260209 HPO RGD 1312161 KDELR2 HP:0000939 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20251023 HPO RGD 1312161 KDELR2 HP:0001252 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20260209 HPO RGD 1312161 KDELR2 HP:0001270 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20250912 HPO RGD 1312161 KDELR2 HP:0001382 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20260209 HPO RGD 1312161 KDELR2 HP:0001552 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20251023 HPO RGD 1312161 KDELR2 HP:0001591 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20250912 HPO RGD 1312161 KDELR2 HP:0001763 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20260209 HPO RGD 1312161 KDELR2 HP:0002645 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20250912 HPO RGD 1312161 KDELR2 HP:0002650 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20260209 HPO RGD 1312161 KDELR2 HP:0002673 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20260209 HPO RGD 1312161 KDELR2 HP:0002757 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20251023 HPO RGD 1312161 KDELR2 HP:0002812 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20250912 HPO RGD 1312161 KDELR2 HP:0002861 RGD:8554872 IAGP RGD:714122524 H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20260519 ClinVar RGD 1312161 KDELR2 HP:0002979 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20250912 HPO RGD 1312161 KDELR2 HP:0003593 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20251023 HPO RGD 1312161 KDELR2 HP:0006488 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20250912 HPO RGD 1312161 KDELR2 HP:0006770 RGD:8554872 IAGP RGD:713645152 H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20260519 ClinVar RGD 1312161 KDELR2 HP:0008081 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20250912 HPO RGD 1312161 KDELR2 HP:0008873 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20250912 HPO RGD 1312161 KDELR2 HP:0011461 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20260209 HPO RGD 1312161 KDELR2 HP:0011463 MIM:619131|PMID:33053334|RGD:8699517 IAGP H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20250912 HPO RGD 1312161 KDELR2 HP:0012126 RGD:8554872 IAGP RGD:713664255 H KDEL endoplasmic reticulum protein retention receptor 2 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0000006 MIM:620292|PMID:23020937|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000075 RGD:8554872 IAGP RGD:38598764 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0000219 MIM:620292|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000278 RGD:8554872 IAGP RGD:405853849 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0000286 MIM:620292|PMID:27620904|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000286 PMID:25741868|PMID:33144682|RGD:8554872 IAGP RGD:13706567 H argonaute RISC component 1 gene taxon:9606 20260707 ClinVar RGD 1312163 AGO1 HP:0000311 MIM:620292|PMID:30213762|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000343 PMID:25741868|PMID:33144682|RGD:8554872 IAGP RGD:13706567 H argonaute RISC component 1 gene taxon:9606 20260707 ClinVar RGD 1312163 AGO1 HP:0000348 MIM:620292|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000400 MIM:620292|PMID:27620904|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000414 MIM:620292|PMID:30213762|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000431 MIM:620292|PMID:30213762|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000463 PMID:25741868|PMID:33144682|RGD:8554872 IAGP RGD:13706567 H argonaute RISC component 1 gene taxon:9606 20260707 ClinVar RGD 1312163 AGO1 HP:0000483 PMID:25741868|RGD:8554872 IAGP RGD:150468311 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0000483 PMID:25741868|RGD:8554872 IAGP RGD:408393460 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0000486 MIM:620292|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000486 PMID:25741868|PMID:33144682|RGD:8554872 IAGP RGD:13706567 H argonaute RISC component 1 gene taxon:9606 20260707 ClinVar RGD 1312163 AGO1 HP:0000494 MIM:620292|PMID:30213762|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000506 MIM:620292|PMID:30213762|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000540 RGD:8554872 IAGP RGD:405853849 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0000565 PMID:25741868|RGD:8554872 IAGP RGD:150468311 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0000565 RGD:8554872 IAGP RGD:401948558 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0000708 PMID:25741868|RGD:8554872 IAGP RGD:402489094 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0000718 MIM:620292|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000729 MIM:620292|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000733 MIM:620292|PMID:27620904|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000739 MIM:620292|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000739 RGD:8554872 IAGP RGD:405853849 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0000750 MIM:620292|PMID:25356899|PMID:27620904|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:402489094 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0000750 RGD:8554872 IAGP RGD:401948558 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0000752 MIM:620292|PMID:27620904|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0001249 MIM:620292|PMID:27620904|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0001249 PMID:25356899|PMID:25741868|PMID:28492532|PMID:30213762|PMID:33057194|PMID:34930816|RGD:8554872 IAGP RGD:150530101 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:150468311 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001249 RGD:8554872 IAGP RGD:150520572 H argonaute RISC component 1 gene taxon:9606 20260602 ClinVar RGD 1312163 AGO1 HP:0001249 RGD:8554872 IAGP RGD:150520574 H argonaute RISC component 1 gene taxon:9606 20211109 ClinVar RGD 1312163 AGO1 HP:0001249 RGD:8554872 IAGP RGD:150530099 H argonaute RISC component 1 gene taxon:9606 20260602 ClinVar RGD 1312163 AGO1 HP:0001249 RGD:8554872 IAGP RGD:150530102 H argonaute RISC component 1 gene taxon:9606 20250729 ClinVar RGD 1312163 AGO1 HP:0001249 RGD:8554872 IAGP RGD:150545856 H argonaute RISC component 1 gene taxon:9606 20220104 ClinVar RGD 1312163 AGO1 HP:0001249 RGD:8554872 IAGP RGD:38598764 H argonaute RISC component 1 gene taxon:9606 20211109 ClinVar RGD 1312163 AGO1 HP:0001250 MIM:620292|PMID:25356899|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:150468311 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001250 RGD:8554872 IAGP RGD:38598764 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001252 MIM:620292|PMID:27620904|PMID:30213762|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0001252 PMID:25741868|PMID:33144682|RGD:8554872 IAGP RGD:13706567 H argonaute RISC component 1 gene taxon:9606 20260707 ClinVar RGD 1312163 AGO1 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:408393460 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001252 RGD:8554872 IAGP RGD:405853849 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001256 RGD:8554872 IAGP RGD:38598764 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001263 MIM:620292|PMID:23020937|PMID:27620904|PMID:30213762|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:150468311 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:402489094 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:598232665 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001263 RGD:8554872 IAGP RGD:401865434 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001263 RGD:8554872 IAGP RGD:401948558 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001263 RGD:8554872 IAGP RGD:405853849 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001270 MIM:620292|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:150468311 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:408393460 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001270 RGD:8554872 IAGP RGD:405853849 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001328 PMID:25741868|RGD:8554872 IAGP RGD:713431572 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001562 RGD:8554872 IAGP RGD:401948558 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001655 PMID:25741868|RGD:8554872 IAGP RGD:150468311 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001762 PMID:25741868|RGD:8554872 IAGP RGD:402489094 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001873 PMID:25741868|RGD:8554872 IAGP RGD:150468311 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0001943 PMID:25741868|RGD:8554872 IAGP RGD:150468311 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0002020 MIM:620292|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0002069 MIM:620292|PMID:30213762|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0002078 PMID:25741868|RGD:8554872 IAGP RGD:408393460 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0002133 MIM:620292|PMID:25356899|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0002197 PMID:25741868|RGD:8554872 IAGP RGD:713431572 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0002311 RGD:8554872 IAGP RGD:405853849 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0002342 MIM:620292|PMID:25356899|PMID:30213762|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0002360 MIM:620292|PMID:27620904|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0002373 MIM:620292|PMID:30213762|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0002384 MIM:620292|PMID:30213762|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0002465 RGD:8554872 IAGP RGD:405853849 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0002861 RGD:8554872 IAGP RGD:405287693 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0002861 RGD:8554872 IAGP RGD:714181750 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0003196 MIM:620292|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0003502 MIM:620292|PMID:30213762|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0003593 MIM:620292|PMID:30213762|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0004322 PMID:25741868|PMID:33144682|RGD:8554872 IAGP RGD:13706567 H argonaute RISC component 1 gene taxon:9606 20260707 ClinVar RGD 1312163 AGO1 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:150468311 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0004322 RGD:8554872 IAGP RGD:405853849 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0004808 RGD:8554872 IAGP RGD:405287693 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0004808 RGD:8554872 IAGP RGD:713700238 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0004808 RGD:8554872 IAGP RGD:713700266 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0005280 PMID:25741868|PMID:33144682|RGD:8554872 IAGP RGD:13706567 H argonaute RISC component 1 gene taxon:9606 20260707 ClinVar RGD 1312163 AGO1 HP:0007018 MIM:620292|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0007018 PMID:25741868|RGD:8554872 IAGP RGD:713431572 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0007018 RGD:8554872 IAGP RGD:405853849 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0007874 MIM:620292|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0011098 RGD:8554872 IAGP RGD:38598764 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0011203 RGD:8554872 IAGP RGD:401948558 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0011220 PMID:25741868|PMID:33144682|RGD:8554872 IAGP RGD:13706567 H argonaute RISC component 1 gene taxon:9606 20260707 ClinVar RGD 1312163 AGO1 HP:0011342 PMID:25741868|PMID:33144682|RGD:8554872 IAGP RGD:13706567 H argonaute RISC component 1 gene taxon:9606 20260707 ClinVar RGD 1312163 AGO1 HP:0011342 PMID:25741868|RGD:8554872 IAGP RGD:713431572 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0011968 MIM:620292|PMID:34930816|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0012126 RGD:8554872 IAGP RGD:714140720 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0012759 PMID:25741868|RGD:8554872 IAGP RGD:40889602 H argonaute RISC component 1 gene taxon:9606 20260602 ClinVar RGD 1312163 AGO1 HP:0025268 RGD:8554872 IAGP RGD:401948558 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0025502 RGD:8554872 IAGP RGD:405853849 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0031627 MIM:620292|PMID:30213762|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0031936 MIM:620292|PMID:25356899|RGD:8699517 IAGP H argonaute RISC component 1 gene taxon:9606 20250912 HPO RGD 1312163 AGO1 HP:0040183 PMID:25741868|RGD:8554872 IAGP RGD:150468311 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0040195 PMID:25741868|PMID:33144682|RGD:8554872 IAGP RGD:13706567 H argonaute RISC component 1 gene taxon:9606 20260707 ClinVar RGD 1312163 AGO1 HP:0100522 RGD:8554872 IAGP RGD:714181954 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0100526 RGD:8554872 IAGP RGD:714181697 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0100526 RGD:8554872 IAGP RGD:714181944 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0100543 RGD:8554872 IAGP RGD:405853849 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0100615 RGD:8554872 IAGP RGD:714181692 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:0200006 RGD:8554872 IAGP RGD:405853849 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312163 AGO1 HP:5200045 RGD:8554872 IAGP RGD:405853849 H argonaute RISC component 1 gene taxon:9606 20260519 ClinVar RGD 1312170 MAP3K6 HP:0004808 RGD:8554872 IAGP RGD:713629264 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260519 ClinVar RGD 1312170 MAP3K6 HP:0004808 RGD:8554872 IAGP RGD:713629281 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260519 ClinVar RGD 1312170 MAP3K6 HP:0004808 RGD:8554872 IAGP RGD:713632519 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260519 ClinVar RGD 1312170 MAP3K6 HP:0007716 RGD:8554872 IAGP RGD:713794763 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260519 ClinVar RGD 1312170 MAP3K6 HP:0011797 RGD:8554872 IAGP RGD:713618903 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260519 ClinVar RGD 1312170 MAP3K6 HP:0012126 RGD:8554872 IAGP RGD:713629281 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260707 ClinVar RGD 1312170 MAP3K6 HP:0012126 RGD:8554872 IAGP RGD:713961476 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260519 ClinVar RGD 1312170 MAP3K6 HP:0012126 RGD:8554872 IAGP RGD:713961701 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260519 ClinVar RGD 1312170 MAP3K6 HP:0012126 RGD:8554872 IAGP RGD:713961709 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260519 ClinVar RGD 1312170 MAP3K6 HP:0030153 RGD:8554872 IAGP RGD:713629281 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260707 ClinVar RGD 1312170 MAP3K6 HP:0030153 RGD:8554872 IAGP RGD:713961709 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260519 ClinVar RGD 1312170 MAP3K6 HP:0100242 RGD:8554872 IAGP RGD:713629281 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260707 ClinVar RGD 1312170 MAP3K6 HP:0100242 RGD:8554872 IAGP RGD:713961569 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260519 ClinVar RGD 1312170 MAP3K6 HP:0100242 RGD:8554872 IAGP RGD:714039081 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260519 ClinVar RGD 1312170 MAP3K6 HP:0100522 RGD:8554872 IAGP RGD:713619330 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260519 ClinVar RGD 1312170 MAP3K6 HP:0100522 RGD:8554872 IAGP RGD:713629281 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260707 ClinVar RGD 1312170 MAP3K6 HP:0100526 RGD:8554872 IAGP RGD:713632519 H mitogen-activated protein kinase kinase kinase 6 gene taxon:9606 20260519 ClinVar RGD 1312172 CCSER2 HP:0001402 RGD:8554872 IAGP RGD:714090848 H coiled-coil serine rich protein 2 gene taxon:9606 20260519 ClinVar RGD 1312172 CCSER2 HP:0002861 RGD:8554872 IAGP RGD:713381487 H coiled-coil serine rich protein 2 gene taxon:9606 20260519 ClinVar RGD 1312172 CCSER2 HP:0004808 RGD:8554872 IAGP RGD:713787271 H coiled-coil serine rich protein 2 gene taxon:9606 20260519 ClinVar RGD 1312172 CCSER2 HP:0006770 RGD:8554872 IAGP RGD:713381536 H coiled-coil serine rich protein 2 gene taxon:9606 20260519 ClinVar RGD 1312172 CCSER2 HP:0012126 RGD:8554872 IAGP RGD:714011546 H coiled-coil serine rich protein 2 gene taxon:9606 20260519 ClinVar RGD 1312172 CCSER2 HP:0012126 RGD:8554872 IAGP RGD:714011558 H coiled-coil serine rich protein 2 gene taxon:9606 20260519 ClinVar RGD 1312172 CCSER2 HP:0100522 RGD:8554872 IAGP RGD:713381563 H coiled-coil serine rich protein 2 gene taxon:9606 20260519 ClinVar RGD 1312172 CCSER2 HP:0100522 RGD:8554872 IAGP RGD:713726666 H coiled-coil serine rich protein 2 gene taxon:9606 20260707 ClinVar RGD 1312173 CHAT HP:0000007 MIM:254210|PMID:11172068|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20250912 HPO RGD 1312173 CHAT HP:0000218 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0000276 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0000308 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0000338 PMID:11172068|PMID:25741868|RGD:8554872 IAGP RGD:8600609 H choline O-acetyltransferase gene taxon:9606 20260519 ClinVar RGD 1312173 CHAT HP:0000369 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0000407 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0000467 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0000486 MIM:254210|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0000508 MIM:254210|ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20250416 HPO RGD 1312173 CHAT HP:0000565 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0000597 MIM:254210|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0000602 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0000639 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0000651 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0000750 PMID:11172068|PMID:25741868|RGD:8554872 IAGP RGD:8600609 H choline O-acetyltransferase gene taxon:9606 20260519 ClinVar RGD 1312173 CHAT HP:0000768 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0000961 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0001249 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0001250 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0001251 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0001252 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0001252 PMID:11172068|PMID:25741868|RGD:8554872 IAGP RGD:8600609 H choline O-acetyltransferase gene taxon:9606 20260519 ClinVar RGD 1312173 CHAT HP:0001265 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0001270 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0001283 MIM:254210|ORPHA:98914|PMID:11172068|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20250912 HPO RGD 1312173 CHAT HP:0001284 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0001288 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20240815 HPO RGD 1312173 CHAT HP:0001374 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0001382 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20240118 HPO RGD 1312173 CHAT HP:0001488 PMID:11172068|PMID:25741868|RGD:8554872 IAGP RGD:8600609 H choline O-acetyltransferase gene taxon:9606 20260519 ClinVar RGD 1312173 CHAT HP:0001558 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0001561 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0001611 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0001612 MIM:254210|ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20250416 HPO RGD 1312173 CHAT HP:0001618 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0001761 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0001872 PMID:28492532|RGD:8554872 IAGP RGD:13820729 H choline O-acetyltransferase gene taxon:9606 20260519 ClinVar RGD 1312173 CHAT HP:0002015 MIM:254210|ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20250416 HPO RGD 1312173 CHAT HP:0002020 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0002033 MIM:254210|ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20250416 HPO RGD 1312173 CHAT HP:0002066 PMID:25741868|RGD:8554872 IAGP RGD:13612348 H choline O-acetyltransferase gene taxon:9606 20260519 ClinVar RGD 1312173 CHAT HP:0002098 MIM:254210|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0002205 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0002392 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0002421 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0002515 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0002747 MIM:254210|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0002751 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0002804 MIM:254210|ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20250416 HPO RGD 1312173 CHAT HP:0002870 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0002872 MIM:254210|ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20250416 HPO RGD 1312173 CHAT HP:0002882 MIM:254210|ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20250416 HPO RGD 1312173 CHAT HP:0003011 PMID:12609506|PMID:25741868|PMID:26789281|PMID:28492532|RGD:8554872 IAGP RGD:8600610 H choline O-acetyltransferase gene taxon:9606 20260602 ClinVar RGD 1312173 CHAT HP:0003198 PMID:25741868|RGD:8554872 IAGP RGD:596942232 H choline O-acetyltransferase gene taxon:9606 20260519 ClinVar RGD 1312173 CHAT HP:0003198 PMID:25741868|RGD:8554872 IAGP RGD:596942245 H choline O-acetyltransferase gene taxon:9606 20260519 ClinVar RGD 1312173 CHAT HP:0003198 PMID:25741868|RGD:8554872 IAGP RGD:597734717 H choline O-acetyltransferase gene taxon:9606 20260519 ClinVar RGD 1312173 CHAT HP:0003259 PMID:25741868|RGD:8554872 IAGP RGD:596942232 H choline O-acetyltransferase gene taxon:9606 20260519 ClinVar RGD 1312173 CHAT HP:0003259 PMID:25741868|RGD:8554872 IAGP RGD:596942245 H choline O-acetyltransferase gene taxon:9606 20260519 ClinVar RGD 1312173 CHAT HP:0003306 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0003324 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0003325 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0003388 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0003397 MIM:254210|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0003402 MIM:254210|PMID:11172068|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20250912 HPO RGD 1312173 CHAT HP:0003403 MIM:254210|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0003458 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0003473 MIM:254210|ORPHA:98914|PMID:11172068|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20250912 HPO RGD 1312173 CHAT HP:0003554 MIM:254210|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0003577 MIM:254210|PMID:11172068|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20250912 HPO RGD 1312173 CHAT HP:0003623 MIM:254210|PMID:11172068|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20250912 HPO RGD 1312173 CHAT HP:0003693 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0003701 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0004661 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0004885 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0004889 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0005943 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0007178 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0008443 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0009053 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0010307 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0010536 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0010557 PMID:25741868|RGD:8554872 IAGP RGD:14396605 H choline O-acetyltransferase gene taxon:9606 20260519 ClinVar RGD 1312173 CHAT HP:0011469 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0011951 PMID:12548525|PMID:15701560|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13627144 H choline O-acetyltransferase gene taxon:9606 20240403 ClinVar RGD 1312173 CHAT HP:0011951 PMID:15701560|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13612221 H choline O-acetyltransferase gene taxon:9606 20230307 ClinVar RGD 1312173 CHAT HP:0011968 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0012801 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0025401 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0030051 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0030208 MIM:254210|ORPHA:98914|PMID:11172068|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20250912 HPO RGD 1312173 CHAT HP:0030842 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0033127 PMID:25741868|RGD:8554872 IAGP RGD:408365241 H choline O-acetyltransferase gene taxon:9606 20260519 ClinVar RGD 1312173 CHAT HP:0100285 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312173 CHAT HP:0100295 ORPHA:98914|RGD:8699517 IAGP H choline O-acetyltransferase gene taxon:9606 20230821 HPO RGD 1312174 EXOG HP:0003003 RGD:8554872 IAGP RGD:714115919 H exo/endonuclease G gene taxon:9606 20260519 ClinVar RGD 1312174 EXOG HP:0012126 RGD:8554872 IAGP RGD:713928450 H exo/endonuclease G gene taxon:9606 20260519 ClinVar RGD 1312174 EXOG HP:0012126 RGD:8554872 IAGP RGD:713928462 H exo/endonuclease G gene taxon:9606 20260519 ClinVar RGD 1312174 EXOG HP:0012126 RGD:8554872 IAGP RGD:713935290 H exo/endonuclease G gene taxon:9606 20260519 ClinVar RGD 1312174 EXOG HP:0030153 RGD:8554872 IAGP RGD:714115928 H exo/endonuclease G gene taxon:9606 20260519 ClinVar RGD 1312176 ACER2 HP:0006770 RGD:8554872 IAGP RGD:713579797 H alkaline ceramidase 2 gene taxon:9606 20260519 ClinVar RGD 1312176 ACER2 HP:0100242 RGD:8554872 IAGP RGD:713514131 H alkaline ceramidase 2 gene taxon:9606 20260519 ClinVar RGD 1312176 ACER2 HP:0100522 RGD:8554872 IAGP RGD:713579709 H alkaline ceramidase 2 gene taxon:9606 20260519 ClinVar RGD 1312176 ACER2 HP:0100526 RGD:8554872 IAGP RGD:713579687 H alkaline ceramidase 2 gene taxon:9606 20260519 ClinVar RGD 1312180 SOCS6 HP:0006725 RGD:8554872 IAGP RGD:713758010 H suppressor of cytokine signaling 6 gene taxon:9606 20260519 ClinVar RGD 1312180 SOCS6 HP:0006770 RGD:8554872 IAGP RGD:713758033 H suppressor of cytokine signaling 6 gene taxon:9606 20260519 ClinVar RGD 1312180 SOCS6 HP:0006770 RGD:8554872 IAGP RGD:713758052 H suppressor of cytokine signaling 6 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0000006 MIM:614849|MIM:621096|PMID:20832341|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0000014 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0000246 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0000388 PMID:25741868|PMID:35960817|RGD:8554872 IAGP RGD:401795848 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0000403 MIM:621096|PMID:35960817|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0000707 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0000718 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0000729 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0000929 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0000999 MIM:621096|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0001047 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0001047 PMID:25741868|PMID:35960817|RGD:8554872 IAGP RGD:401795848 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0001250 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0001259 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0001262 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0001290 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0001347 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0001369 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0001402 RGD:8554872 IAGP RGD:713353131 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0001558 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0001560 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0001744 MIM:621096|PMID:35960817|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0001787 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0001888 MIM:621096|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0001945 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0001974 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0001999 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0002017 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0002028 MIM:621096|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0002037 PMID:25741868|PMID:35960817|RGD:8554872 IAGP RGD:401795848 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0002110 MIM:621096|PMID:35960817|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0002110 PMID:25741868|RGD:8554872 IAGP RGD:405869458 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0002133 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0002167 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0002181 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0002205 MIM:621096|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0002240 MIM:621096|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0002315 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0002349 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0002353 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0002353 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0002384 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0002582 MIM:621096|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0002586 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0002608 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0002633 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0002716 MIM:621096|PMID:35960817|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0002720 PMID:25741868|RGD:8554872 IAGP RGD:405869458 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0002721 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0002721 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0002754 PMID:25741868|PMID:35960817|RGD:8554872 IAGP RGD:401795848 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0002783 MIM:621096|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0002840 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0002861 RGD:8554872 IAGP RGD:714200719 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0002861 RGD:8554872 IAGP RGD:714200767 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0002888 RGD:8554872 IAGP RGD:13506431 H TNF receptor associated factor 3 gene taxon:9606 20210323 ClinVar RGD 1312182 TRAF3 HP:0002902 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0002922 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0003212 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0003237 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0003261 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0003496 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0003621 MIM:621096|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0003765 PMID:25741868|RGD:8554872 IAGP RGD:405869458 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0004302 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0004313 MIM:621096|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0004372 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0004887 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0005425 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0006530 MIM:621096|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0006725 RGD:8554872 IAGP RGD:714200700 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0006846 MIM:614849|PMID:20832341|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20250912 HPO RGD 1312182 TRAF3 HP:0007185 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0010701 PMID:25741868|PMID:35960817|RGD:8554872 IAGP RGD:401795848 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0011108 MIM:621096|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0011227 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0011463 MIM:614849|MIM:621096|PMID:20832341|PMID:35960817|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0011850 PMID:25741868|PMID:35960817|RGD:8554872 IAGP RGD:401795848 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0011897 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0011968 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0011972 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0012126 RGD:8554872 IAGP RGD:713807534 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0012126 RGD:8554872 IAGP RGD:713807551 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0012302 MIM:614849|PMID:20832341|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20250912 HPO RGD 1312182 TRAF3 HP:0012378 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0012443 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0020136 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0025085 PMID:25741868|PMID:35960817|RGD:8554872 IAGP RGD:401795848 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0025143 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0025289 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0025343 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0025379 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0030812 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0030955 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0031179 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0031446 PMID:25741868|PMID:35960817|RGD:8554872 IAGP RGD:401795848 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0032235 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0032261 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0032564 MIM:621096|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0033256 MIM:621096|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0033555 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0033559 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0033563 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0033583 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0034156 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0034189 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0034751 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0034839 MIM:621096|PMID:35960817|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0040160 PMID:25741868|RGD:8554872 IAGP RGD:405869458 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0040261 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0100242 RGD:8554872 IAGP RGD:714200729 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0100543 PMID:28492532|RGD:8554872 IAGP RGD:26890706 H TNF receptor associated factor 3 gene taxon:9606 20260519 ClinVar RGD 1312182 TRAF3 HP:0100646 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0100721 MIM:621096|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0200149 ORPHA:1930|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20230821 HPO RGD 1312182 TRAF3 HP:0410294 MIM:621096|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0410295 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0410299 MIM:621096|PMID:35960817|PMID:39579173|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312182 TRAF3 HP:0410323 MIM:621096|PMID:35960817|RGD:8699517 IAGP H TNF receptor associated factor 3 gene taxon:9606 20251023 HPO RGD 1312184 DPH2 HP:0000007 MIM:620062|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0000023 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0000034 MIM:620062|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0000077 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0000175 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0000238 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0000243 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0000248 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0000252 MIM:620062|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0000256 MIM:620062|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0000286 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0000316 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0000347 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0000369 MIM:620062|ORPHA:459061|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0000494 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0000687 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:401940336 H diphthamide biosynthesis 2 gene taxon:9606 20260519 ClinVar RGD 1312184 DPH2 HP:0000739 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0000805 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0000954 MIM:620062|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0001156 MIM:620062|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0001181 MIM:620062|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0001250 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0001263 MIM:620062|ORPHA:459061|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:15040391 H diphthamide biosynthesis 2 gene taxon:9606 20210323 ClinVar RGD 1312184 DPH2 HP:0001263 PMID:32576952|RGD:8554872 IAGP RGD:38457485 H diphthamide biosynthesis 2 gene taxon:9606 20250729 ClinVar RGD 1312184 DPH2 HP:0001263 PMID:32576952|RGD:8554872 IAGP RGD:38457486 H diphthamide biosynthesis 2 gene taxon:9606 20250729 ClinVar RGD 1312184 DPH2 HP:0001274 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0001305 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0001320 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0001629 PMID:32576952|RGD:8554872 IAGP RGD:38457485 H diphthamide biosynthesis 2 gene taxon:9606 20250729 ClinVar RGD 1312184 DPH2 HP:0001629 PMID:32576952|RGD:8554872 IAGP RGD:38457486 H diphthamide biosynthesis 2 gene taxon:9606 20250729 ClinVar RGD 1312184 DPH2 HP:0001631 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0001650 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0001763 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0001800 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0001970 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0001999 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0002194 MIM:620062|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0002209 MIM:620062|ORPHA:459061|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0002861 RGD:8554872 IAGP RGD:713896857 H diphthamide biosynthesis 2 gene taxon:9606 20260519 ClinVar RGD 1312184 DPH2 HP:0003593 MIM:620062|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0004322 MIM:620062|ORPHA:459061|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0004322 PMID:32576952|RGD:8554872 IAGP RGD:38457485 H diphthamide biosynthesis 2 gene taxon:9606 20250729 ClinVar RGD 1312184 DPH2 HP:0004322 PMID:32576952|RGD:8554872 IAGP RGD:38457486 H diphthamide biosynthesis 2 gene taxon:9606 20250729 ClinVar RGD 1312184 DPH2 HP:0004442 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0004482 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0004808 RGD:8554872 IAGP RGD:714266012 H diphthamide biosynthesis 2 gene taxon:9606 20260519 ClinVar RGD 1312184 DPH2 HP:0005280 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0007018 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0007291 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0007598 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0009890 MIM:620062|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0010535 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0010862 MIM:620062|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0011220 MIM:620062|ORPHA:459061|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0011623 MIM:620062|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0012385 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0012413 MIM:620062|PMID:32576952|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20250912 HPO RGD 1312184 DPH2 HP:0012712 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0030799 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0045075 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312184 DPH2 HP:0200055 ORPHA:459061|RGD:8699517 IAGP H diphthamide biosynthesis 2 gene taxon:9606 20230821 HPO RGD 1312188 SEMA4A HP:0000007 MIM:610282|MIM:610283|PMID:16199541|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20260209 HPO RGD 1312188 SEMA4A HP:0000405 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000407 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000501 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000505 ORPHA:1872|ORPHA:440437|ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000510 MIM:610282|MIM:610283|PMID:16199541|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20260209 HPO RGD 1312188 SEMA4A HP:0000510 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11579719 H semaphorin 4A gene taxon:9606 20230110 ClinVar RGD 1312188 SEMA4A HP:0000510 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11654157 H semaphorin 4A gene taxon:9606 20231107 ClinVar RGD 1312188 SEMA4A HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:38465272 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11577526 H semaphorin 4A gene taxon:9606 20230214 ClinVar RGD 1312188 SEMA4A HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11577840 H semaphorin 4A gene taxon:9606 20210608 ClinVar RGD 1312188 SEMA4A HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11578190 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11579280 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11579369 H semaphorin 4A gene taxon:9606 20210608 ClinVar RGD 1312188 SEMA4A HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11579764 H semaphorin 4A gene taxon:9606 20210706 ClinVar RGD 1312188 SEMA4A HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11579943 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:15149477 H semaphorin 4A gene taxon:9606 20241112 ClinVar RGD 1312188 SEMA4A HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:15153276 H semaphorin 4A gene taxon:9606 20241112 ClinVar RGD 1312188 SEMA4A HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28883848 H semaphorin 4A gene taxon:9606 20210406 ClinVar RGD 1312188 SEMA4A HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28894165 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:11580123 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:11582983 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:11586855 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:11587471 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:11588720 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:11590169 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:11593099 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:11645316 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:11649539 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:11650588 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:11652446 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:11659444 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:28878215 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:28878821 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:28878827 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:28884408 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:28884415 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:28889019 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:28889031 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:28889626 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:28894406 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000510 RGD:8554872 IAGP RGD:28894638 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000512 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000529 MIM:610283|ORPHA:1872|PMID:16199541|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250912 HPO RGD 1312188 SEMA4A HP:0000543 ORPHA:1872|ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20260209 HPO RGD 1312188 SEMA4A HP:0000546 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000551 ORPHA:1872|ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000556 PMID:25307848|PMID:28492532|RGD:8554872 IAGP RGD:405263187 H semaphorin 4A gene taxon:9606 20250311 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|PMID:26103963|PMID:28492532|PMID:30910914|PMID:32483926|RGD:8554872 IAGP RGD:21071870 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11578907 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151831646 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155720459 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26889343 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26904747 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26910701 H semaphorin 4A gene taxon:9606 20231107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26913922 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28878518 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405195219 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939114 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939221 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941299 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596942467 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596945588 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596945812 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596945837 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:15173256 H semaphorin 4A gene taxon:9606 20210323 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26909398 H semaphorin 4A gene taxon:9606 20250311 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:28883848 H semaphorin 4A gene taxon:9606 20260707 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:405263092 H semaphorin 4A gene taxon:9606 20250311 ClinVar RGD 1312188 SEMA4A HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:405263129 H semaphorin 4A gene taxon:9606 20250311 ClinVar RGD 1312188 SEMA4A HP:0000556 RGD:8554872 IAGP RGD:405263032 H semaphorin 4A gene taxon:9606 20240409 ClinVar RGD 1312188 SEMA4A HP:0000556 RGD:8554872 IAGP RGD:405263055 H semaphorin 4A gene taxon:9606 20240409 ClinVar RGD 1312188 SEMA4A HP:0000556 RGD:8554872 IAGP RGD:405263061 H semaphorin 4A gene taxon:9606 20240409 ClinVar RGD 1312188 SEMA4A HP:0000556 RGD:8554872 IAGP RGD:405263066 H semaphorin 4A gene taxon:9606 20240409 ClinVar RGD 1312188 SEMA4A HP:0000556 RGD:8554872 IAGP RGD:405263072 H semaphorin 4A gene taxon:9606 20240409 ClinVar RGD 1312188 SEMA4A HP:0000556 RGD:8554872 IAGP RGD:405263079 H semaphorin 4A gene taxon:9606 20240409 ClinVar RGD 1312188 SEMA4A HP:0000556 RGD:8554872 IAGP RGD:405263104 H semaphorin 4A gene taxon:9606 20240409 ClinVar RGD 1312188 SEMA4A HP:0000556 RGD:8554872 IAGP RGD:405263195 H semaphorin 4A gene taxon:9606 20240409 ClinVar RGD 1312188 SEMA4A HP:0000563 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000602 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000603 ORPHA:1872|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000608 MIM:610283|PMID:16199541|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250912 HPO RGD 1312188 SEMA4A HP:0000613 MIM:610283|ORPHA:1872|ORPHA:791|PMID:16199541|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250912 HPO RGD 1312188 SEMA4A HP:0000618 MIM:610282|ORPHA:791|PMID:16199541|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250912 HPO RGD 1312188 SEMA4A HP:0000639 ORPHA:1872|ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000648 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000648 PMID:25741868|RGD:8554872 IAGP RGD:596944603 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000648 PMID:25741868|RGD:8554872 IAGP RGD:596944633 H semaphorin 4A gene taxon:9606 20250107 ClinVar RGD 1312188 SEMA4A HP:0000662 MIM:610282|MIM:610283|ORPHA:1872|ORPHA:791|PMID:16199541|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20260209 HPO RGD 1312188 SEMA4A HP:0000708 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000716 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000737 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000738 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000739 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0000842 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0001105 ORPHA:1872|ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0001123 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0001250 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0001252 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0001260 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0001276 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0001288 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0001371 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0001402 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0001402 RGD:8554872 IAGP RGD:713753403 H semaphorin 4A gene taxon:9606 20260519 ClinVar RGD 1312188 SEMA4A HP:0001402 RGD:8554872 IAGP RGD:713753419 H semaphorin 4A gene taxon:9606 20260519 ClinVar RGD 1312188 SEMA4A HP:0001402 RGD:8554872 IAGP RGD:713753435 H semaphorin 4A gene taxon:9606 20260519 ClinVar RGD 1312188 SEMA4A HP:0001824 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0002017 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0002019 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0002024 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0002027 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0002076 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0002167 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0002239 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0002354 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0002376 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0002516 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0002671 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0002893 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0002894 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0003003 PMID:25637381|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14350068 H semaphorin 4A gene taxon:9606 20231107 ClinVar RGD 1312188 SEMA4A HP:0003006 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0003401 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0004374 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0006725 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0006770 RGD:8554872 IAGP RGD:713405156 H semaphorin 4A gene taxon:9606 20260519 ClinVar RGD 1312188 SEMA4A HP:0007018 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0007256 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0007641 ORPHA:1872|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0007663 MIM:610282|ORPHA:791|PMID:16199541|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20260209 HPO RGD 1312188 SEMA4A HP:0007675 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0007703 ORPHA:1872|ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0007737 MIM:610283|ORPHA:1872|ORPHA:791|PMID:16199541|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20260209 HPO RGD 1312188 SEMA4A HP:0007787 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0007843 MIM:610283|ORPHA:1872|ORPHA:791|PMID:16199541|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20260209 HPO RGD 1312188 SEMA4A HP:0007994 MIM:610283|ORPHA:791|PMID:16199541|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250912 HPO RGD 1312188 SEMA4A HP:0008046 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0009726 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0009926 MIM:610283|PMID:16199541|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250912 HPO RGD 1312188 SEMA4A HP:0010524 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0010526 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0010622 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0010784 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0010786 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0011505 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0012113 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0012126 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0012126 RGD:8554872 IAGP RGD:713738139 H semaphorin 4A gene taxon:9606 20260519 ClinVar RGD 1312188 SEMA4A HP:0012126 RGD:8554872 IAGP RGD:713942618 H semaphorin 4A gene taxon:9606 20260519 ClinVar RGD 1312188 SEMA4A HP:0012126 RGD:8554872 IAGP RGD:713942725 H semaphorin 4A gene taxon:9606 20260519 ClinVar RGD 1312188 SEMA4A HP:0012174 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0012378 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0012426 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0012508 ORPHA:1872|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0030466 ORPHA:1872|ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0030488 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0030610 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0030786 ORPHA:791|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0100013 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0100031 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0100273 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0100571 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0100576 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0100615 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0100615 RGD:8554872 IAGP RGD:713406272 H semaphorin 4A gene taxon:9606 20260519 ClinVar RGD 1312188 SEMA4A HP:0100660 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0100743 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312188 SEMA4A HP:0100835 ORPHA:440437|RGD:8699517 IAGP H semaphorin 4A gene taxon:9606 20250807 HPO RGD 1312190 LTO1 HP:0001402 RGD:8554872 IAGP RGD:713350276 H LTO1 maturation factor of ABCE1 gene taxon:9606 20260519 ClinVar RGD 1312190 LTO1 HP:0004808 RGD:8554872 IAGP RGD:714102924 H LTO1 maturation factor of ABCE1 gene taxon:9606 20260519 ClinVar RGD 1312190 LTO1 HP:0100242 RGD:8554872 IAGP RGD:714102924 H LTO1 maturation factor of ABCE1 gene taxon:9606 20260519 ClinVar RGD 1312190 LTO1 HP:0100522 RGD:8554872 IAGP RGD:714102924 H LTO1 maturation factor of ABCE1 gene taxon:9606 20260519 ClinVar RGD 1312190 LTO1 HP:0100526 RGD:8554872 IAGP RGD:713395297 H LTO1 maturation factor of ABCE1 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0000007 MIM:616276|MIM:620666|PMID:22368301|PMID:36047608|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0000083 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0000096 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0000097 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0000100 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0000280 MIM:616276|PMID:22368301|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0000286 MIM:616276|PMID:22368301|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0000347 PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859|PMID:34656997|PMID:36047608|RGD:8554872 IAGP RGD:13508699 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0000365 MIM:616276|PMID:25658047|PMID:26185144|PMID:30659264|PMID:31396399|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0000505 MIM:620666|PMID:38013626|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0000639 MIM:616276|PMID:30659264|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:405855037 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0001063 MIM:616276|PMID:25658047|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001250 MIM:616276|MIM:620666|PMID:25658047|PMID:30659264|PMID:31396399|PMID:38013626|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001251 MIM:616276|PMID:25658047|PMID:33704555|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001252 MIM:616276|PMID:33704555|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001257 MIM:616276|PMID:25658047|PMID:31396399|PMID:33704555|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001257 PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859|PMID:34656997|PMID:36047608|RGD:8554872 IAGP RGD:13508699 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0001260 MIM:620666|PMID:36047608|PMID:38013626|PMID:38014483|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001263 MIM:616276|PMID:25658047|PMID:30659264|PMID:31396399|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001263 PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859|PMID:34656997|PMID:36047608|RGD:8554872 IAGP RGD:13508699 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0001270 MIM:616276|PMID:25658047|PMID:33704555|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001270 PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859|PMID:34656997|PMID:36047608|RGD:8554872 IAGP RGD:13508699 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0001271 MIM:616276|PMID:31396399|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001271 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0001272 MIM:616276|MIM:620666|PMID:25658047|PMID:31396399|PMID:33704555|PMID:36047608|PMID:38014483|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001276 MIM:620666|PMID:38013626|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001284 MIM:616276|PMID:25658047|PMID:33704555|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001310 MIM:616276|PMID:33704555|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001320 MIM:620666|PMID:38014483|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001321 MIM:616276|PMID:25658047|PMID:26185144|PMID:31396399|PMID:33704555|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001324 MIM:616276|PMID:22368301|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001332 MIM:616276|PMID:30659264|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001508 MIM:616276|PMID:30659264|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001511 MIM:616276|PMID:25658047|PMID:26185144|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001629 MIM:616276|PMID:22368301|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001639 MIM:616276|PMID:25658047|PMID:30659264|PMID:31396399|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001643 MIM:616276|PMID:25658047|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001662 MIM:616276|PMID:25658047|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0001987 MIM:616276|PMID:30659264|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002015 MIM:616276|PMID:25658047|PMID:26185144|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002059 MIM:616276|PMID:31396399|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002061 MIM:620666|PMID:36047608|PMID:38013626|PMID:38014483|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002066 MIM:620666|PMID:36047608|PMID:38014483|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002069 MIM:616276|PMID:25658047|PMID:26185144|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002070 MIM:620666|PMID:36047608|PMID:38014483|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002093 MIM:616276|PMID:26185144|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002104 MIM:616276|PMID:25658047|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002151 MIM:616276|PMID:25658047|PMID:26185144|PMID:30659264|PMID:31396399|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002151 PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859|PMID:34656997|PMID:36047608|RGD:8554872 IAGP RGD:13508699 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0002172 MIM:616276|MIM:620666|PMID:25658047|PMID:38013626|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002174 MIM:620666|PMID:36047608|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002342 MIM:616276|PMID:22368301|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20260209 HPO RGD 1312192 COQ4 HP:0002384 MIM:616276|PMID:30659264|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002385 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0002395 MIM:620666|PMID:36047608|PMID:38013626|PMID:38014483|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002490 PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859|PMID:34656997|PMID:36047608|RGD:8554872 IAGP RGD:13508699 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0002497 PMID:25741868|PMID:28492532|PMID:33704555|RGD:8554872 IAGP RGD:126910222 H coenzyme Q4 gene taxon:9606 20230214 ClinVar RGD 1312192 COQ4 HP:0002497 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14709146 H coenzyme Q4 gene taxon:9606 20260602 ClinVar RGD 1312192 COQ4 HP:0002497 PMID:25741868|RGD:8554872 IAGP RGD:126910225 H coenzyme Q4 gene taxon:9606 20260602 ClinVar RGD 1312192 COQ4 HP:0002505 MIM:616276|MIM:620666|PMID:31396399|PMID:38013626|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002650 MIM:616276|PMID:25658047|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0002910 MIM:616276|PMID:25658047|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0003130 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0003198 MIM:616276|PMID:31396399|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0003236 MIM:616276|PMID:25658047|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0003259 MIM:616276|PMID:25658047|PMID:30659264|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0003487 MIM:620666|PMID:36047608|PMID:38013626|PMID:38014483|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0003577 MIM:616276|PMID:22368301|PMID:25658047|PMID:26185144|PMID:31396399|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0003593 MIM:616276|PMID:25658047|PMID:31396399|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0003596 MIM:620666|PMID:38014483|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0003621 MIM:616276|MIM:620666|PMID:33704555|PMID:36047608|PMID:38013626|PMID:38014483|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0003623 MIM:616276|PMID:30659264|PMID:31396399|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0003774 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0004383 MIM:616276|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20230821 HPO RGD 1312192 COQ4 HP:0005162 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0005684 MIM:616276|PMID:25658047|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0006579 PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859|PMID:34656997|PMID:36047608|RGD:8554872 IAGP RGD:13508699 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0006770 RGD:8554872 IAGP RGD:713510561 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0006789 PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859|PMID:34656997|PMID:36047608|RGD:8554872 IAGP RGD:13508699 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0006813 MIM:616276|PMID:25658047|PMID:26185144|PMID:33704555|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0006881 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0006986 MIM:620666|PMID:36047608|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0007107 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0007262 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0007325 MIM:616276|PMID:31396399|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0007350 MIM:620666|PMID:36047608|PMID:38013626|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0007359 PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859|PMID:34656997|PMID:36047608|RGD:8554872 IAGP RGD:13508699 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0008314 MIM:616276|PMID:26185144|PMID:30659264|PMID:33704555|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0009830 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0010551 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0010851 MIM:616276|PMID:33704555|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0011096 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0011410 MIM:616276|PMID:26185144|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0011448 MIM:620666|PMID:38013626|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0011449 MIM:620666|PMID:38013626|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0011461 MIM:616276|PMID:25658047|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0011462 MIM:620666|PMID:36047608|PMID:38013626|PMID:38014483|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0011463 MIM:616276|MIM:620666|PMID:33704555|PMID:38014483|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0011924 MIM:616276|PMID:26185144|PMID:30659264|PMID:33704555|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0011968 MIM:616276|PMID:26185144|PMID:30659264|PMID:31396399|PMID:33704555|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0011968 PMID:25741868|RGD:8554872 IAGP RGD:150556342 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0012126 RGD:8554872 IAGP RGD:150413967 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0012211 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0012622 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0012663 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0012664 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0012665 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0012666 MIM:616276|PMID:25658047|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0012666 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0012667 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0012707 MIM:616276|PMID:31396399|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:329954676 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0025168 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0025169 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0025664 MIM:616276|PMID:25658047|PMID:26185144|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0025722 MIM:616276|PMID:31396399|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0030059 PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859|PMID:34656997|PMID:36047608|RGD:8554872 IAGP RGD:13508699 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0030176 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0030872 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0031482 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0031993 MIM:620666|PMID:38013626|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0032278 MIM:616276|PMID:25658047|PMID:26185144|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0033715 MIM:620666|PMID:38013626|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0033725 MIM:616276|PMID:25658047|PMID:31396399|PMID:33704555|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0034314 RGD:8554872 IAGP RGD:713969228 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0034369 MIM:616276|PMID:25658047|PMID:26185144|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0100526 RGD:8554872 IAGP RGD:713510591 H coenzyme Q4 gene taxon:9606 20260519 ClinVar RGD 1312192 COQ4 HP:0100543 MIM:620666|PMID:36047608|PMID:38013626|PMID:38014483|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0100704 MIM:616276|PMID:31396399|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312192 COQ4 HP:0200134 MIM:616276|PMID:25658047|RGD:8699517 IAGP H coenzyme Q4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0000007 MIM:606593|PMID:11779494|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0000014 PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:13473832 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000014 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000028 MIM:606593|ORPHA:235|ORPHA:99812|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0000047 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000054 MIM:606593|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0000055 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000100 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000118 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8597629 H DNA ligase 4 gene taxon:9606 20260602 ClinVar RGD 1312194 LIG4 HP:0000126 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000141 MIM:606593|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000154 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000164 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000164 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000164 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000176 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000197 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000197 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000218 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000233 ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000238 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000248 MIM:606593|ORPHA:99812|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0000252 MIM:606593|ORPHA:235|ORPHA:99812|PMID:11779494|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0000252 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000252 PMID:11779494|PMID:15333585|PMID:26608917|PMID:26762768|PMID:27893162|PMID:28492532|PMID:30719430|PMID:35592332|RGD:8554872 IAGP RGD:8597627 H DNA ligase 4 gene taxon:9606 20260602 ClinVar RGD 1312194 LIG4 HP:0000252 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000252 PMID:25741868|PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:329954570 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000252 PMID:25741868|PMID:28866308|RGD:8554872 IAGP RGD:12913370 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000252 PMID:25741868|PMID:39039281|RGD:8554872 IAGP RGD:155265960 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000260 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000270 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000275 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000286 MIM:606593|ORPHA:235|ORPHA:99812|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0000294 MIM:606593|ORPHA:235|ORPHA:99812|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0000316 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000320 ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000340 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000341 MIM:606593|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0000347 ORPHA:235|ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250416 HPO RGD 1312194 LIG4 HP:0000358 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0000360 PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:13473832 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000365 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000365 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000365 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000403 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0000411 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000430 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000430 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000431 MIM:606593|ORPHA:99812|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0000444 ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000448 MIM:606593|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0000483 MIM:606593|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0000485 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0000486 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000496 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000504 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000506 ORPHA:235|ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250416 HPO RGD 1312194 LIG4 HP:0000508 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000518 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000540 PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:13473832 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000540 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000545 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000545 PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:13473832 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000568 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0000581 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000582 MIM:606593|ORPHA:99812|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0000582 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000582 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000601 MIM:606593|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000612 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0000613 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0000639 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000678 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0000684 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000736 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0000750 MIM:606593|ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250416 HPO RGD 1312194 LIG4 HP:0000767 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000821 MIM:606593|ORPHA:39041|ORPHA:99812|PMID:11779494|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0000821 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000821 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000824 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0000824 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000824 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000829 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000836 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000853 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000873 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000873 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000924 ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000939 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000939 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000944 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000958 ORPHA:235|ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250416 HPO RGD 1312194 LIG4 HP:0000960 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000964 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000965 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000969 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000974 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000978 PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:13473832 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000978 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0000989 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0000992 MIM:606593|ORPHA:99812|PMID:11779494|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0001000 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001009 MIM:606593|PMID:11779494|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0001019 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001072 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001075 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001156 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001231 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001249 ORPHA:235|ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250416 HPO RGD 1312194 LIG4 HP:0001249 PMID:25741868|PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:329954570 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001250 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001252 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0001263 MIM:606593|ORPHA:99812|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0001273 PMID:25741868|PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:329954570 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001328 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0001328 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001328 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001363 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001370 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001382 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240118 HPO RGD 1312194 LIG4 HP:0001385 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001394 PMID:11779494|PMID:15333585|PMID:26608917|PMID:26762768|PMID:27893162|PMID:28492532|PMID:30719430|PMID:35592332|RGD:8554872 IAGP RGD:8597627 H DNA ligase 4 gene taxon:9606 20260602 ClinVar RGD 1312194 LIG4 HP:0001397 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001397 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001433 PMID:11779494|PMID:15333585|PMID:26608917|PMID:26762768|PMID:27893162|PMID:28492532|PMID:30719430|PMID:35592332|RGD:8554872 IAGP RGD:8597627 H DNA ligase 4 gene taxon:9606 20260602 ClinVar RGD 1312194 LIG4 HP:0001442 MIM:254500|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001469 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001508 MIM:606593|ORPHA:235|ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250416 HPO RGD 1312194 LIG4 HP:0001508 PMID:25741868|PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:329954570 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001510 ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001511 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001511 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001511 PMID:25741868|PMID:28866308|RGD:8554872 IAGP RGD:12913370 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001518 MIM:606593|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0001596 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001609 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0001620 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0001620 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001620 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001627 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0001629 PMID:25741868|PMID:39039281|RGD:8554872 IAGP RGD:155265960 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001631 PMID:25741868|PMID:39039281|RGD:8554872 IAGP RGD:155265960 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001655 PMID:25741868|PMID:39039281|RGD:8554872 IAGP RGD:155265960 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001744 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001770 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001773 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001787 PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:13473832 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001800 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001831 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001840 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001852 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001872 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001873 MIM:606593|ORPHA:235|PMID:11779494|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0001873 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001873 PMID:25741868|RGD:8554872 IAGP RGD:151662807 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001874 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001875 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001875 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001875 PMID:25741868|RGD:8554872 IAGP RGD:151662807 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001876 MIM:606593|ORPHA:99812|PMID:11779494|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0001876 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001876 PMID:11779494|PMID:15333585|PMID:26608917|PMID:26762768|PMID:27893162|PMID:28492532|PMID:30719430|PMID:35592332|RGD:8554872 IAGP RGD:8597627 H DNA ligase 4 gene taxon:9606 20260602 ClinVar RGD 1312194 LIG4 HP:0001876 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001877 PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:13473832 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001877 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001880 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001888 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001903 ORPHA:235|ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250416 HPO RGD 1312194 LIG4 HP:0001903 PMID:25741868|RGD:8554872 IAGP RGD:151662807 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001945 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0001954 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14744207 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0001974 ORPHA:39041|ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250416 HPO RGD 1312194 LIG4 HP:0001999 PMID:25741868|PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:329954570 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002013 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0002019 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0002020 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0002024 ORPHA:235|ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250416 HPO RGD 1312194 LIG4 HP:0002025 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0002028 ORPHA:235|ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250416 HPO RGD 1312194 LIG4 HP:0002035 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0002073 PMID:11779494|PMID:15333585|PMID:26608917|PMID:26762768|PMID:27893162|PMID:28492532|PMID:30719430|PMID:35592332|RGD:8554872 IAGP RGD:8597627 H DNA ligase 4 gene taxon:9606 20260602 ClinVar RGD 1312194 LIG4 HP:0002090 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0002091 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002093 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0002099 MIM:606593|ORPHA:235|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0002099 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002099 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002099 PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:13473832 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002119 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002119 PMID:25741868|PMID:28866308|RGD:8554872 IAGP RGD:12913370 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002205 MIM:606593|PMID:11779494|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0002209 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0002213 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0002216 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002216 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002240 ORPHA:39041|ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250416 HPO RGD 1312194 LIG4 HP:0002250 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002321 PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:13473832 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002354 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002360 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0002373 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14744207 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002410 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002410 PMID:25741868|PMID:28866308|RGD:8554872 IAGP RGD:12913370 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002488 ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0002497 PMID:11779494|PMID:15333585|PMID:26608917|PMID:26762768|PMID:27893162|PMID:28492532|PMID:30719430|PMID:35592332|RGD:8554872 IAGP RGD:8597627 H DNA ligase 4 gene taxon:9606 20260602 ClinVar RGD 1312194 LIG4 HP:0002530 PMID:11779494|PMID:15333585|PMID:26608917|PMID:26762768|PMID:27893162|PMID:28492532|PMID:30719430|PMID:35592332|RGD:8554872 IAGP RGD:8597627 H DNA ligase 4 gene taxon:9606 20260602 ClinVar RGD 1312194 LIG4 HP:0002577 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002650 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0002664 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0002665 ORPHA:235|ORPHA:39041|ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250416 HPO RGD 1312194 LIG4 HP:0002716 ORPHA:39041|ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250416 HPO RGD 1312194 LIG4 HP:0002719 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0002721 ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0002721 PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:13473832 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0002750 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0002863 MIM:606593|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0002895 PMID:25741868|RGD:8554872 IAGP RGD:14396271 H DNA ligase 4 gene taxon:9606 20210323 ClinVar RGD 1312194 LIG4 HP:0002960 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0002960 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0003124 PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:13473832 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0003220 ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0003298 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0003581 MIM:254500|PMID:23502783|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0003765 MIM:606593|PMID:11779494|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0004209 MIM:606593|ORPHA:235|ORPHA:99812|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0004313 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0004322 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0004322 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0004322 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0004322 PMID:25741868|PMID:39039281|RGD:8554872 IAGP RGD:155265960 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0004332 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0004422 ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0004430 ORPHA:39041|ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250416 HPO RGD 1312194 LIG4 HP:0004430 PMID:11779494|PMID:15333585|PMID:26608917|PMID:26762768|PMID:27893162|PMID:28492532|PMID:30719430|PMID:35592332|RGD:8554872 IAGP RGD:8597627 H DNA ligase 4 gene taxon:9606 20260602 ClinVar RGD 1312194 LIG4 HP:0004430 PMID:16585603|PMID:18845326|PMID:26151233|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:26898105 H DNA ligase 4 gene taxon:9606 20220607 ClinVar RGD 1312194 LIG4 HP:0004430 PMID:25741868|PMID:26762768|PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:402503545 H DNA ligase 4 gene taxon:9606 20250211 ClinVar RGD 1312194 LIG4 HP:0004430 PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:13473832 H DNA ligase 4 gene taxon:9606 20250408 ClinVar RGD 1312194 LIG4 HP:0004808 PMID:28492532|RGD:8554872 IAGP RGD:13610256 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0005280 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0005338 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0005561 ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0005978 MIM:606593|ORPHA:99812|PMID:11779494|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0006721 MIM:606593|ORPHA:235|PMID:16088910|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0006775 MIM:254500|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0006775 PMID:11779494|PMID:15333585|PMID:16088910|PMID:1779494|PMID:23337116|PMID:24123394|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|PMID:5333585|RGD:8554872 IAGP RGD:8597624 H DNA ligase 4 gene taxon:9606 20250211 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20240507 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:11779494|PMID:16088910|PMID:18845326|PMID:24123394|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:127270751 H DNA ligase 4 gene taxon:9606 20250211 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20250211 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:11779494|PMID:16088910|PMID:24033266|PMID:25239263|PMID:25741868|PMID:27063650|PMID:28492532|RGD:8554872 IAGP RGD:13525485 H DNA ligase 4 gene taxon:9606 20250211 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:11779494|PMID:16088910|PMID:24123394|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:151764590 H DNA ligase 4 gene taxon:9606 20250211 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:11779494|PMID:16088910|PMID:25239263|PMID:25741868|PMID:27063650|PMID:28492532|RGD:8554872 IAGP RGD:405162901 H DNA ligase 4 gene taxon:9606 20250211 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:11779494|PMID:16088910|PMID:25741868|PMID:28492532|PMID:32534991|RGD:8554872 IAGP RGD:151740060 H DNA ligase 4 gene taxon:9606 20250211 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:25741868|PMID:26762768|PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:402503545 H DNA ligase 4 gene taxon:9606 20250211 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:25741868|PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:402511200 H DNA ligase 4 gene taxon:9606 20250211 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11617601 H DNA ligase 4 gene taxon:9606 20230110 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11622873 H DNA ligase 4 gene taxon:9606 20250211 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126757202 H DNA ligase 4 gene taxon:9606 20230110 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12740755 H DNA ligase 4 gene taxon:9606 20250506 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13805950 H DNA ligase 4 gene taxon:9606 20210323 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14744207 H DNA ligase 4 gene taxon:9606 20230509 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:25327740 H DNA ligase 4 gene taxon:9606 20230509 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:25741868|RGD:8554872 IAGP RGD:126746598 H DNA ligase 4 gene taxon:9606 20210406 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:25741868|RGD:8554872 IAGP RGD:14399166 H DNA ligase 4 gene taxon:9606 20230509 ClinVar RGD 1312194 LIG4 HP:0006775 PMID:25741868|RGD:8554872 IAGP RGD:28911243 H DNA ligase 4 gene taxon:9606 20230110 ClinVar RGD 1312194 LIG4 HP:0007018 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0007018 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14744207 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0007370 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0007483 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0007483 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0007549 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0008209 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0008209 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0008736 ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0008872 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0008897 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0009601 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0009602 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0009738 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0009891 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0010280 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14744207 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0010460 PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:13473832 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0010460 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0010522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14744207 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0010674 PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:13473832 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0010780 PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:13473832 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0010780 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0010783 ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0011034 MIM:254500|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0011109 MIM:606593|PMID:11779494|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0011304 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0011438 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0011968 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0012210 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0012211 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0012647 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0012758 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312194 LIG4 HP:0025439 PMID:25741868|RGD:8554872 IAGP RGD:151662807 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0030680 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0031047 MIM:254500|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0032398 PMID:25741868|PMID:28492532|PMID:34630384|RGD:8554872 IAGP RGD:329954570 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0033005 MIM:606593|PMID:11779494|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20250912 HPO RGD 1312194 LIG4 HP:0100543 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0100585 ORPHA:99812|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0100646 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0100806 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0100840 ORPHA:39041|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0200034 PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|RGD:8554872 IAGP RGD:8597625 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0200034 PMID:11779494|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24892279|PMID:25741868|PMID:27063650|PMID:28492532|PMID:31604460|RGD:8554872 IAGP RGD:13530430 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:0200055 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20230821 HPO RGD 1312194 LIG4 HP:0410009 PMID:28492532|RGD:8554872 IAGP RGD:26895183 H DNA ligase 4 gene taxon:9606 20260519 ClinVar RGD 1312194 LIG4 HP:5200060 ORPHA:235|RGD:8699517 IAGP H DNA ligase 4 gene taxon:9606 20240815 HPO RGD 1312196 CPSF6 HP:0002861 RGD:8554872 IAGP RGD:714070520 H cleavage and polyadenylation specific factor 6 gene taxon:9606 20260519 ClinVar RGD 1312196 CPSF6 HP:0004808 RGD:8554872 IAGP RGD:713653504 H cleavage and polyadenylation specific factor 6 gene taxon:9606 20260519 ClinVar RGD 1312196 CPSF6 HP:0004808 RGD:8554872 IAGP RGD:713653747 H cleavage and polyadenylation specific factor 6 gene taxon:9606 20260519 ClinVar RGD 1312196 CPSF6 HP:0100242 RGD:8554872 IAGP RGD:714070583 H cleavage and polyadenylation specific factor 6 gene taxon:9606 20260519 ClinVar RGD 1312196 CPSF6 HP:0100242 RGD:8554872 IAGP RGD:714070590 H cleavage and polyadenylation specific factor 6 gene taxon:9606 20260519 ClinVar RGD 1312198 STIM2 HP:0001402 RGD:8554872 IAGP RGD:714072305 H stromal interaction molecule 2 gene taxon:9606 20260519 ClinVar RGD 1312198 STIM2 HP:0001402 RGD:8554872 IAGP RGD:714072315 H stromal interaction molecule 2 gene taxon:9606 20260519 ClinVar RGD 1312198 STIM2 HP:0002861 RGD:8554872 IAGP RGD:714241394 H stromal interaction molecule 2 gene taxon:9606 20260519 ClinVar RGD 1312198 STIM2 HP:0002861 RGD:8554872 IAGP RGD:714241406 H stromal interaction molecule 2 gene taxon:9606 20260519 ClinVar RGD 1312198 STIM2 HP:0002861 RGD:8554872 IAGP RGD:714241410 H stromal interaction molecule 2 gene taxon:9606 20260519 ClinVar RGD 1312198 STIM2 HP:0002861 RGD:8554872 IAGP RGD:714241445 H stromal interaction molecule 2 gene taxon:9606 20260519 ClinVar RGD 1312198 STIM2 HP:0002861 RGD:8554872 IAGP RGD:714241447 H stromal interaction molecule 2 gene taxon:9606 20260519 ClinVar RGD 1312198 STIM2 HP:0004808 RGD:8554872 IAGP RGD:713934696 H stromal interaction molecule 2 gene taxon:9606 20260519 ClinVar RGD 1312198 STIM2 HP:0004808 RGD:8554872 IAGP RGD:713938708 H stromal interaction molecule 2 gene taxon:9606 20260519 ClinVar RGD 1312198 STIM2 HP:0012126 RGD:8554872 IAGP RGD:713929311 H stromal interaction molecule 2 gene taxon:9606 20260519 ClinVar RGD 1312198 STIM2 HP:0100242 RGD:8554872 IAGP RGD:713934696 H stromal interaction molecule 2 gene taxon:9606 20260519 ClinVar RGD 1312198 STIM2 HP:0100522 RGD:8554872 IAGP RGD:713934696 H stromal interaction molecule 2 gene taxon:9606 20260519 ClinVar RGD 1312198 STIM2 HP:0100526 RGD:8554872 IAGP RGD:714241403 H stromal interaction molecule 2 gene taxon:9606 20260519 ClinVar RGD 1312200 FOXD2 HP:0000083 RGD:8554872 IAGP RGD:714110956 H forkhead box D2 gene taxon:9606 20260519 ClinVar RGD 1312200 FOXD2 HP:0000089 RGD:8554872 IAGP RGD:401931255 H forkhead box D2 gene taxon:9606 20260519 ClinVar RGD 1312200 FOXD2 HP:0000089 RGD:8554872 IAGP RGD:714110956 H forkhead box D2 gene taxon:9606 20260519 ClinVar RGD 1312200 FOXD2 HP:0000093 RGD:8554872 IAGP RGD:401931255 H forkhead box D2 gene taxon:9606 20260519 ClinVar RGD 1312200 FOXD2 HP:0000100 PMID:25741868|RGD:8554872 IAGP RGD:713688285 H forkhead box D2 gene taxon:9606 20260519 ClinVar RGD 1312200 FOXD2 HP:0000271 RGD:8554872 IAGP RGD:401931255 H forkhead box D2 gene taxon:9606 20260519 ClinVar RGD 1312200 FOXD2 HP:0001999 RGD:8554872 IAGP RGD:714110956 H forkhead box D2 gene taxon:9606 20260519 ClinVar RGD 1312200 FOXD2 HP:0012622 RGD:8554872 IAGP RGD:401931255 H forkhead box D2 gene taxon:9606 20260519 ClinVar RGD 1312200 FOXD2 HP:0012758 RGD:8554872 IAGP RGD:401931255 H forkhead box D2 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0000007 MIM:211500|MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0000014 PMID:28492532|RGD:8554872 IAGP RGD:13814560 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0000311 RGD:8554872 IAGP RGD:13532025 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0000365 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0000407 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0000421 PMID:28492532|RGD:8554872 IAGP RGD:13814560 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0000467 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0000505 PMID:25741868|RGD:8554872 IAGP RGD:401869375 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0000508 MIM:211500|MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250416 HPO RGD 1312203 SLC52A3 HP:0000544 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:13814560 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:597831919 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0000716 PMID:28492532|RGD:8554872 IAGP RGD:13814560 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0000738 PMID:28492532|RGD:8554872 IAGP RGD:13814560 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:13814560 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0000978 PMID:28492532|RGD:8554872 IAGP RGD:13814560 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:13814560 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0001251 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:13480503 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:13491194 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0001252 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0001283 MIM:211500|MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0001298 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0001308 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0001308 PMID:25741868|RGD:8554872 IAGP RGD:401869375 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0001317 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0001324 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0001324 PMID:25741868|RGD:8554872 IAGP RGD:401869375 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0001347 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0001348 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0001348 PMID:25741868|RGD:8554872 IAGP RGD:401869375 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0001349 MIM:211500|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0001605 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0001621 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0001621 PMID:25741868|RGD:8554872 IAGP RGD:401869375 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0001626 PMID:28492532|RGD:8554872 IAGP RGD:13814560 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0001730 PMID:25741868|RGD:8554872 IAGP RGD:401869375 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0001761 PMID:25741868|RGD:8554872 IAGP RGD:401869375 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0002015 MIM:211500|MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250416 HPO RGD 1312203 SLC52A3 HP:0002058 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0002078 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0002093 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0002094 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0002098 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0002141 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0002141 PMID:25741868|RGD:8554872 IAGP RGD:401869375 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0002205 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0002312 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0002483 PMID:21512156|PMID:28492532|PMID:28856173|RGD:8554872 IAGP RGD:13530923 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0002650 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:13814560 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0002808 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0002877 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0003202 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0003202 PMID:25741868|RGD:8554872 IAGP RGD:401869375 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0003324 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0003593 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0003621 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0003676 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0003701 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0003819 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0004887 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0005951 MIM:211500|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0006770 PMID:28492532|RGD:8554872 IAGP RGD:151816314 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0006824 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0007034 MIM:211500|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0007097 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0009113 MIM:211500|MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250416 HPO RGD 1312203 SLC52A3 HP:0009130 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0009830 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0010307 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0010628 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:13814560 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0011448 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0011449 MIM:211530|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20230821 HPO RGD 1312203 SLC52A3 HP:0011463 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:13814560 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0012473 MIM:211530|PMID:20206331|RGD:8699517 IAGP H solute carrier family 52 member 3 gene taxon:9606 20250912 HPO RGD 1312203 SLC52A3 HP:0030153 PMID:25741868|RGD:8554872 IAGP RGD:150447267 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0100522 PMID:25741868|RGD:8554872 IAGP RGD:150447267 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312203 SLC52A3 HP:0100526 RGD:8554872 IAGP RGD:713976953 H solute carrier family 52 member 3 gene taxon:9606 20260519 ClinVar RGD 1312206 DIS3 HP:0002664 PMID:20531386|PMID:24150935|PMID:35101336|RGD:8554872 IAGP RGD:713632550 H DIS3 exosome endoribonuclease and 3'-5' exoribonuclease gene taxon:9606 20260519 ClinVar RGD 1312206 DIS3 HP:0006770 RGD:8554872 IAGP RGD:713880580 H DIS3 exosome endoribonuclease and 3'-5' exoribonuclease gene taxon:9606 20260519 ClinVar RGD 1312206 DIS3 HP:0006775 RGD:8554872 IAGP RGD:15173480 H DIS3 exosome endoribonuclease and 3'-5' exoribonuclease gene taxon:9606 20210323 ClinVar RGD 1312206 DIS3 HP:0012126 RGD:8554872 IAGP RGD:713805565 H DIS3 exosome endoribonuclease and 3'-5' exoribonuclease gene taxon:9606 20260519 ClinVar RGD 1312206 DIS3 HP:0100242 RGD:8554872 IAGP RGD:713805506 H DIS3 exosome endoribonuclease and 3'-5' exoribonuclease gene taxon:9606 20260519 ClinVar RGD 1312206 DIS3 HP:0100242 RGD:8554872 IAGP RGD:713880623 H DIS3 exosome endoribonuclease and 3'-5' exoribonuclease gene taxon:9606 20260519 ClinVar RGD 1312206 DIS3 HP:0100522 RGD:8554872 IAGP RGD:713880645 H DIS3 exosome endoribonuclease and 3'-5' exoribonuclease gene taxon:9606 20260519 ClinVar RGD 1312206 DIS3 HP:0100526 PMID:25741868|PMID:30967618|PMID:36835493|RGD:8554872 IAGP RGD:713663147 H DIS3 exosome endoribonuclease and 3'-5' exoribonuclease gene taxon:9606 20260519 ClinVar RGD 1312206 DIS3 HP:0100526 RGD:8554872 IAGP RGD:713880515 H DIS3 exosome endoribonuclease and 3'-5' exoribonuclease gene taxon:9606 20260519 ClinVar RGD 1312206 DIS3 HP:0100526 RGD:8554872 IAGP RGD:713880612 H DIS3 exosome endoribonuclease and 3'-5' exoribonuclease gene taxon:9606 20260519 ClinVar RGD 1312208 SNX6 HP:0004808 RGD:8554872 IAGP RGD:713661977 H sorting nexin 6 gene taxon:9606 20260519 ClinVar RGD 1312208 SNX6 HP:0004808 RGD:8554872 IAGP RGD:714159280 H sorting nexin 6 gene taxon:9606 20260519 ClinVar RGD 1312208 SNX6 HP:0006725 RGD:8554872 IAGP RGD:714209927 H sorting nexin 6 gene taxon:9606 20260519 ClinVar RGD 1312208 SNX6 HP:0006770 RGD:8554872 IAGP RGD:714209944 H sorting nexin 6 gene taxon:9606 20260519 ClinVar RGD 1312208 SNX6 HP:0012126 RGD:8554872 IAGP RGD:713955885 H sorting nexin 6 gene taxon:9606 20260519 ClinVar RGD 1312208 SNX6 HP:0100242 RGD:8554872 IAGP RGD:714209957 H sorting nexin 6 gene taxon:9606 20260519 ClinVar RGD 1312208 SNX6 HP:0100522 RGD:8554872 IAGP RGD:713661977 H sorting nexin 6 gene taxon:9606 20260519 ClinVar RGD 1312208 SNX6 HP:0100526 RGD:8554872 IAGP RGD:713661977 H sorting nexin 6 gene taxon:9606 20260519 ClinVar RGD 1312210 PSKH1 HP:0000007 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0000083 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0000097 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0000112 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0000122 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0000126 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0000776 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0000822 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0000952 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0001263 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0001394 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0001395 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0001396 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0001397 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0001399 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0001408 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0001433 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0001510 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0001541 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0001744 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0001876 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0001903 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0001942 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0001999 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0002098 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0002240 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0002613 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0002630 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0002643 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0002861 RGD:8554872 IAGP RGD:713983724 H protein serine kinase H1 gene taxon:9606 20260519 ClinVar RGD 1312210 PSKH1 HP:0002908 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0003073 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0003155 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0003259 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0003577 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0003593 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0003621 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0003623 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0003774 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0004719 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0004737 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0005542 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0009025 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0012202 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0012622 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0030151 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0030242 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0030948 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0031141 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0031956 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0031964 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0032948 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0034883 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312210 PSKH1 HP:0100820 MIM:620962|PMID:39132680|RGD:8699517 IAGP H protein serine kinase H1 gene taxon:9606 20260209 HPO RGD 1312211 CDC14A HP:0000007 MIM:608653|PMID:27259055|RGD:8699517 IAGP H cell division cycle 14A gene taxon:9606 20250912 HPO RGD 1312211 CDC14A HP:0000407 MIM:608653|PMID:27259055|RGD:8699517 IAGP H cell division cycle 14A gene taxon:9606 20250912 HPO RGD 1312211 CDC14A HP:0000598 PMID:25741868|PMID:27259055|PMID:28492532|PMID:29293958|PMID:31850270|RGD:8554872 IAGP RGD:13785855 H cell division cycle 14A gene taxon:9606 20240312 ClinVar RGD 1312211 CDC14A HP:0000598 PMID:25741868|PMID:29293958|RGD:8554872 IAGP RGD:11350463 H cell division cycle 14A gene taxon:9606 20260602 ClinVar RGD 1312211 CDC14A HP:0001402 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:13527792 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312211 CDC14A HP:0001402 RGD:8554872 IAGP RGD:713357062 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312211 CDC14A HP:0002665 RGD:8554872 IAGP RGD:714002573 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312211 CDC14A HP:0002665 RGD:8554872 IAGP RGD:714175980 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312211 CDC14A HP:0002861 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:13527792 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312211 CDC14A HP:0002861 RGD:8554872 IAGP RGD:713887239 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312211 CDC14A HP:0003251 MIM:608653|PMID:27259055|RGD:8699517 IAGP H cell division cycle 14A gene taxon:9606 20250912 HPO RGD 1312211 CDC14A HP:0003577 MIM:608653|PMID:27259055|RGD:8699517 IAGP H cell division cycle 14A gene taxon:9606 20250912 HPO RGD 1312211 CDC14A HP:0004808 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:13527792 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312211 CDC14A HP:0004808 RGD:8554872 IAGP RGD:713667034 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312211 CDC14A HP:0004808 RGD:8554872 IAGP RGD:713673351 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312211 CDC14A HP:0006725 RGD:8554872 IAGP RGD:714005887 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312211 CDC14A HP:0006770 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:13527792 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312211 CDC14A HP:0012126 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:13527792 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312211 CDC14A HP:0012208 MIM:608653|PMID:27259055|RGD:8699517 IAGP H cell division cycle 14A gene taxon:9606 20250912 HPO RGD 1312211 CDC14A HP:0012864 MIM:608653|PMID:27259055|RGD:8699517 IAGP H cell division cycle 14A gene taxon:9606 20250912 HPO RGD 1312211 CDC14A HP:0100242 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:13527792 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312211 CDC14A HP:0100522 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:13527792 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312211 CDC14A HP:0100526 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:13527792 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312211 CDC14A HP:0100526 PMID:28492532|RGD:8554872 IAGP RGD:150447934 H cell division cycle 14A gene taxon:9606 20260519 ClinVar RGD 1312214 PPP1R13B HP:0001402 RGD:8554872 IAGP RGD:713353147 H protein phosphatase 1 regulatory subunit 13B gene taxon:9606 20260519 ClinVar RGD 1312214 PPP1R13B HP:0001402 RGD:8554872 IAGP RGD:713353159 H protein phosphatase 1 regulatory subunit 13B gene taxon:9606 20260519 ClinVar RGD 1312214 PPP1R13B HP:0001402 RGD:8554872 IAGP RGD:713353167 H protein phosphatase 1 regulatory subunit 13B gene taxon:9606 20260519 ClinVar RGD 1312214 PPP1R13B HP:0002861 RGD:8554872 IAGP RGD:714201812 H protein phosphatase 1 regulatory subunit 13B gene taxon:9606 20260519 ClinVar RGD 1312214 PPP1R13B HP:0004808 RGD:8554872 IAGP RGD:714160197 H protein phosphatase 1 regulatory subunit 13B gene taxon:9606 20260519 ClinVar RGD 1312214 PPP1R13B HP:0011797 RGD:8554872 IAGP RGD:713661188 H protein phosphatase 1 regulatory subunit 13B gene taxon:9606 20260519 ClinVar RGD 1312214 PPP1R13B HP:0011797 RGD:8554872 IAGP RGD:714161727 H protein phosphatase 1 regulatory subunit 13B gene taxon:9606 20260519 ClinVar RGD 1312214 PPP1R13B HP:0011797 RGD:8554872 IAGP RGD:714161733 H protein phosphatase 1 regulatory subunit 13B gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0000006 MIM:176807|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250116 HPO RGD 1312218 MAD1L1 HP:0000007 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0000252 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0000271 PMID:25741868|RGD:8554872 IAGP RGD:401798458 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0000341 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0000347 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0000350 PMID:25741868|RGD:8554872 IAGP RGD:401798458 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0000358 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0000431 PMID:25741868|RGD:8554872 IAGP RGD:401798458 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0000455 PMID:25741868|RGD:8554872 IAGP RGD:401798458 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0000470 PMID:25741868|RGD:8554872 IAGP RGD:401798458 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0000490 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0000494 PMID:25741868|RGD:8554872 IAGP RGD:401798458 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0000639 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0000962 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0000998 PMID:25741868|RGD:8554872 IAGP RGD:401798458 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:401798458 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0001263 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:401798458 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0001442 MIM:176807|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250116 HPO RGD 1312218 MAD1L1 HP:0001761 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0001765 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0002861 RGD:8554872 IAGP RGD:713501025 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0003764 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0004808 RGD:8554872 IAGP RGD:713733929 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0004808 RGD:8554872 IAGP RGD:713733987 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0004808 RGD:8554872 IAGP RGD:713979304 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260707 ClinVar RGD 1312218 MAD1L1 HP:0004808 RGD:8554872 IAGP RGD:713979324 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0004808 RGD:8554872 IAGP RGD:713985866 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0005701 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0005987 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0006743 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0007716 RGD:8554872 IAGP RGD:713979401 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0011463 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0011797 RGD:8554872 IAGP RGD:713733958 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0011800 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0012032 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0012125 MIM:176807|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250116 HPO RGD 1312218 MAD1L1 HP:0012126 RGD:8554872 IAGP RGD:713661281 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0012126 RGD:8554872 IAGP RGD:713661292 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0012126 RGD:8554872 IAGP RGD:713733733 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260707 ClinVar RGD 1312218 MAD1L1 HP:0012126 RGD:8554872 IAGP RGD:713986010 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260707 ClinVar RGD 1312218 MAD1L1 HP:0030079 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0030153 RGD:8554872 IAGP RGD:713500376 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0030153 RGD:8554872 IAGP RGD:713733987 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0030153 RGD:8554872 IAGP RGD:713979304 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260707 ClinVar RGD 1312218 MAD1L1 HP:0030434 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0040276 MIM:620189|PMID:36322655|RGD:8699517 IAGP H mitotic arrest deficient 1 like 1 gene taxon:9606 20250912 HPO RGD 1312218 MAD1L1 HP:0100242 RGD:8554872 IAGP RGD:713501001 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0100242 RGD:8554872 IAGP RGD:713661309 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0100242 RGD:8554872 IAGP RGD:713979304 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260707 ClinVar RGD 1312218 MAD1L1 HP:0100522 RGD:8554872 IAGP RGD:713979304 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0100526 RGD:8554872 IAGP RGD:713503266 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0100526 RGD:8554872 IAGP RGD:713503293 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312218 MAD1L1 HP:0100526 RGD:8554872 IAGP RGD:713661299 H mitotic arrest deficient 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312220 TMPRSS7 HP:0012126 RGD:8554872 IAGP RGD:713525483 H transmembrane serine protease 7 gene taxon:9606 20260519 ClinVar RGD 1312220 TMPRSS7 HP:0012126 RGD:8554872 IAGP RGD:713525513 H transmembrane serine protease 7 gene taxon:9606 20260519 ClinVar RGD 1312220 TMPRSS7 HP:0012126 RGD:8554872 IAGP RGD:713525527 H transmembrane serine protease 7 gene taxon:9606 20260519 ClinVar RGD 1312220 TMPRSS7 HP:0100242 RGD:8554872 IAGP RGD:713525496 H transmembrane serine protease 7 gene taxon:9606 20260519 ClinVar RGD 1312220 TMPRSS7 HP:0100522 RGD:8554872 IAGP RGD:714190000 H transmembrane serine protease 7 gene taxon:9606 20260519 ClinVar RGD 1312220 TMPRSS7 HP:0100522 RGD:8554872 IAGP RGD:714190017 H transmembrane serine protease 7 gene taxon:9606 20260519 ClinVar RGD 1312220 TMPRSS7 HP:0100526 RGD:8554872 IAGP RGD:714189979 H transmembrane serine protease 7 gene taxon:9606 20260519 ClinVar RGD 1312220 TMPRSS7 HP:0100615 RGD:8554872 IAGP RGD:714189986 H transmembrane serine protease 7 gene taxon:9606 20260519 ClinVar RGD 1312223 ZDHHC6 HP:0001402 RGD:8554872 IAGP RGD:714089616 H zDHHC palmitoyltransferase 6 gene taxon:9606 20260519 ClinVar RGD 1312223 ZDHHC6 HP:0002861 RGD:8554872 IAGP RGD:713788798 H zDHHC palmitoyltransferase 6 gene taxon:9606 20260519 ClinVar RGD 1312223 ZDHHC6 HP:0100522 RGD:8554872 IAGP RGD:713788851 H zDHHC palmitoyltransferase 6 gene taxon:9606 20260519 ClinVar RGD 1312223 ZDHHC6 HP:0100526 RGD:8554872 IAGP RGD:713788813 H zDHHC palmitoyltransferase 6 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0000006 MIM:616736|PMID:26188006|RGD:8699517 IAGP H teneurin transmembrane protein 4 gene taxon:9606 20250912 HPO RGD 1312224 TENM4 HP:0000175 RGD:8554872 IAGP RGD:14702625 H teneurin transmembrane protein 4 gene taxon:9606 20241008 ClinVar RGD 1312224 TENM4 HP:0000587 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0000716 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0000787 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0000821 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0001251 RGD:8554872 IAGP RGD:40887957 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0001310 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0001337 PMID:25741868|RGD:8554872 IAGP RGD:151661810 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0001337 PMID:25741868|RGD:8554872 IAGP RGD:407484369 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0001337 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0001337 RGD:8554872 IAGP RGD:713691922 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0002019 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0002067 MIM:616736|PMID:26188006|RGD:8699517 IAGP H teneurin transmembrane protein 4 gene taxon:9606 20250912 HPO RGD 1312224 TENM4 HP:0002067 PMID:25741868|RGD:8554872 IAGP RGD:151661810 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0002076 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0002076 RGD:8554872 IAGP RGD:713691922 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0002080 MIM:616736|PMID:26188006|RGD:8699517 IAGP H teneurin transmembrane protein 4 gene taxon:9606 20250912 HPO RGD 1312224 TENM4 HP:0002136 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0002174 MIM:616736|PMID:26188006|RGD:8699517 IAGP H teneurin transmembrane protein 4 gene taxon:9606 20250912 HPO RGD 1312224 TENM4 HP:0002321 RGD:8554872 IAGP RGD:713691922 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0002352 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0002354 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0002650 PMID:25741868|RGD:8554872 IAGP RGD:40886702 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0002664 PMID:35101336|RGD:8554872 IAGP RGD:713586721 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0002861 RGD:8554872 IAGP RGD:713416853 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0002861 RGD:8554872 IAGP RGD:713416990 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0002861 RGD:8554872 IAGP RGD:713417010 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0002861 RGD:8554872 IAGP RGD:713417160 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0003584 MIM:616736|PMID:26188006|RGD:8699517 IAGP H teneurin transmembrane protein 4 gene taxon:9606 20250912 HPO RGD 1312224 TENM4 HP:0003596 MIM:616736|PMID:26188006|RGD:8699517 IAGP H teneurin transmembrane protein 4 gene taxon:9606 20250912 HPO RGD 1312224 TENM4 HP:0003621 MIM:616736|PMID:26188006|RGD:8699517 IAGP H teneurin transmembrane protein 4 gene taxon:9606 20250912 HPO RGD 1312224 TENM4 HP:0003677 MIM:616736|PMID:26188006|RGD:8699517 IAGP H teneurin transmembrane protein 4 gene taxon:9606 20250912 HPO RGD 1312224 TENM4 HP:0003829 MIM:616736|PMID:26188006|RGD:8699517 IAGP H teneurin transmembrane protein 4 gene taxon:9606 20250912 HPO RGD 1312224 TENM4 HP:0003831 MIM:616736|PMID:26188006|RGD:8699517 IAGP H teneurin transmembrane protein 4 gene taxon:9606 20250912 HPO RGD 1312224 TENM4 HP:0004808 RGD:8554872 IAGP RGD:714101781 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0006770 RGD:8554872 IAGP RGD:714100086 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0007166 RGD:8554872 IAGP RGD:713691922 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0010605 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0010754 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0011462 MIM:616736|PMID:26188006|RGD:8699517 IAGP H teneurin transmembrane protein 4 gene taxon:9606 20250912 HPO RGD 1312224 TENM4 HP:0011463 MIM:616736|PMID:26188006|RGD:8699517 IAGP H teneurin transmembrane protein 4 gene taxon:9606 20250912 HPO RGD 1312224 TENM4 HP:0030186 MIM:616736|PMID:26188006|RGD:8699517 IAGP H teneurin transmembrane protein 4 gene taxon:9606 20250912 HPO RGD 1312224 TENM4 HP:0030186 RGD:8554872 IAGP RGD:713974726 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0030359 RGD:8554872 IAGP RGD:713417076 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0031947 MIM:616736|PMID:26188006|RGD:8699517 IAGP H teneurin transmembrane protein 4 gene taxon:9606 20250912 HPO RGD 1312224 TENM4 HP:0033127 PMID:25741868|RGD:8554872 IAGP RGD:408368769 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0100022 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0100242 RGD:8554872 IAGP RGD:713416828 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0100242 RGD:8554872 IAGP RGD:713417174 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0100242 RGD:8554872 IAGP RGD:713417232 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0100242 RGD:8554872 IAGP RGD:713417254 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0100522 RGD:8554872 IAGP RGD:713417292 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0100526 RGD:8554872 IAGP RGD:713417141 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0100526 RGD:8554872 IAGP RGD:713417292 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0100660 PMID:25741868|RGD:8554872 IAGP RGD:40887955 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312224 TENM4 HP:0200085 PMID:25741868|RGD:8554872 IAGP RGD:151661810 H teneurin transmembrane protein 4 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0000007 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0000218 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0000219 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:38597631 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20210323 ClinVar RGD 1312226 ARHGEF2 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:38597655 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20210323 ClinVar RGD 1312226 ARHGEF2 HP:0000343 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0000483 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0000486 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0000494 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0000508 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0000527 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0000543 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0000646 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0000649 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0000750 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0000988 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0001249 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0001252 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0001265 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0001270 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0001320 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0001500 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0002162 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0002359 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0002665 PMID:28492532|RGD:8554872 IAGP RGD:15136957 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0002861 PMID:28492532|RGD:8554872 IAGP RGD:15136957 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0002861 RGD:8554872 IAGP RGD:713383275 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0002861 RGD:8554872 IAGP RGD:713383382 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0002861 RGD:8554872 IAGP RGD:713384357 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0003577 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0004808 PMID:28492532|RGD:8554872 IAGP RGD:15136957 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0004808 PMID:28492532|RGD:8554872 IAGP RGD:15173823 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0004808 RGD:8554872 IAGP RGD:713579599 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0004808 RGD:8554872 IAGP RGD:713925382 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0006610 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0006770 RGD:8554872 IAGP RGD:714117743 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0006958 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0007811 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0011451 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0012110 MIM:617523|PMID:28453519|RGD:8699517 IAGP H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20250912 HPO RGD 1312226 ARHGEF2 HP:0012126 RGD:8554872 IAGP RGD:713940630 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0030153 RGD:8554872 IAGP RGD:713925298 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0100242 RGD:8554872 IAGP RGD:713384035 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0100242 RGD:8554872 IAGP RGD:713384797 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0100522 RGD:8554872 IAGP RGD:713381394 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0100526 PMID:28492532|RGD:8554872 IAGP RGD:15173823 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0100526 RGD:8554872 IAGP RGD:713382066 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312226 ARHGEF2 HP:0100526 RGD:8554872 IAGP RGD:713384010 H Rho/Rac guanine nucleotide exchange factor 2 gene taxon:9606 20260519 ClinVar RGD 1312230 SERPINB13 HP:0004808 RGD:8554872 IAGP RGD:714265160 H serpin family B member 13 gene taxon:9606 20260519 ClinVar RGD 1312230 SERPINB13 HP:0012125 RGD:8554872 IAGP RGD:10767721 H serpin family B member 13 gene taxon:9606 20210323 ClinVar RGD 1312230 SERPINB13 HP:0030359 RGD:8554872 IAGP RGD:713756413 H serpin family B member 13 gene taxon:9606 20260519 ClinVar RGD 1312230 SERPINB13 HP:0100526 RGD:8554872 IAGP RGD:714269608 H serpin family B member 13 gene taxon:9606 20260519 ClinVar RGD 1312232 PLA2G12A HP:0006770 RGD:8554872 IAGP RGD:713582196 H phospholipase A2 group XIIA gene taxon:9606 20260519 ClinVar RGD 1312232 PLA2G12A HP:0030153 RGD:8554872 IAGP RGD:713582196 H phospholipase A2 group XIIA gene taxon:9606 20260519 ClinVar RGD 1312232 PLA2G12A HP:0030153 RGD:8554872 IAGP RGD:714116687 H phospholipase A2 group XIIA gene taxon:9606 20260519 ClinVar RGD 1312232 PLA2G12A HP:0100522 RGD:8554872 IAGP RGD:713415589 H phospholipase A2 group XIIA gene taxon:9606 20260519 ClinVar RGD 1312234 TNFAIP2 HP:0006770 RGD:8554872 IAGP RGD:714201117 H TNF alpha induced protein 2 gene taxon:9606 20260519 ClinVar RGD 1312234 TNFAIP2 HP:0011797 RGD:8554872 IAGP RGD:714160167 H TNF alpha induced protein 2 gene taxon:9606 20260519 ClinVar RGD 1312234 TNFAIP2 HP:0030359 RGD:8554872 IAGP RGD:714201109 H TNF alpha induced protein 2 gene taxon:9606 20260519 ClinVar RGD 1312234 TNFAIP2 HP:0100526 RGD:8554872 IAGP RGD:714201135 H TNF alpha induced protein 2 gene taxon:9606 20260519 ClinVar RGD 1312236 SLC39A6 HP:0002861 RGD:8554872 IAGP RGD:713742538 H solute carrier family 39 member 6 gene taxon:9606 20260519 ClinVar RGD 1312236 SLC39A6 HP:0012126 RGD:8554872 IAGP RGD:714269048 H solute carrier family 39 member 6 gene taxon:9606 20260519 ClinVar RGD 1312236 SLC39A6 HP:0100242 RGD:8554872 IAGP RGD:713742581 H solute carrier family 39 member 6 gene taxon:9606 20260519 ClinVar RGD 1312236 SLC39A6 HP:0100526 RGD:8554872 IAGP RGD:713742561 H solute carrier family 39 member 6 gene taxon:9606 20260519 ClinVar RGD 1312240 PAIP2 HP:0002861 RGD:8554872 IAGP RGD:713881123 H poly(A) binding protein interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312244 BLMH HP:0002861 RGD:8554872 IAGP RGD:714173815 H bleomycin hydrolase gene taxon:9606 20260519 ClinVar RGD 1312244 BLMH HP:0004808 RGD:8554872 IAGP RGD:713670451 H bleomycin hydrolase gene taxon:9606 20260519 ClinVar RGD 1312244 BLMH HP:0012126 RGD:8554872 IAGP RGD:714137515 H bleomycin hydrolase gene taxon:9606 20260519 ClinVar RGD 1312244 BLMH HP:0012126 RGD:8554872 IAGP RGD:714137539 H bleomycin hydrolase gene taxon:9606 20260519 ClinVar RGD 1312244 BLMH HP:0012126 RGD:8554872 IAGP RGD:714137548 H bleomycin hydrolase gene taxon:9606 20260519 ClinVar RGD 1312244 BLMH HP:0100242 RGD:8554872 IAGP RGD:714137527 H bleomycin hydrolase gene taxon:9606 20260519 ClinVar RGD 1312246 CCNDBP1 HP:0004808 RGD:8554872 IAGP RGD:713551446 H cyclin D1 binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1312246 CCNDBP1 HP:0006770 RGD:8554872 IAGP RGD:713741981 H cyclin D1 binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1312246 CCNDBP1 HP:0012126 RGD:8554872 IAGP RGD:713958289 H cyclin D1 binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1312246 CCNDBP1 HP:0012126 RGD:8554872 IAGP RGD:713958292 H cyclin D1 binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1312246 CCNDBP1 HP:0100242 RGD:8554872 IAGP RGD:713958283 H cyclin D1 binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1312246 CCNDBP1 HP:0100522 RGD:8554872 IAGP RGD:713958283 H cyclin D1 binding protein 1 gene taxon:9606 20260707 ClinVar RGD 1312246 CCNDBP1 HP:0100526 RGD:8554872 IAGP RGD:713742060 H cyclin D1 binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1312246 CCNDBP1 HP:0100526 RGD:8554872 IAGP RGD:713958283 H cyclin D1 binding protein 1 gene taxon:9606 20260707 ClinVar RGD 1312249 SNAPC1 HP:0004808 RGD:8554872 IAGP RGD:714164833 H small nuclear RNA activating complex polypeptide 1 gene taxon:9606 20260519 ClinVar RGD 1312249 SNAPC1 HP:0012126 RGD:8554872 IAGP RGD:713956219 H small nuclear RNA activating complex polypeptide 1 gene taxon:9606 20260519 ClinVar RGD 1312249 SNAPC1 HP:0012126 RGD:8554872 IAGP RGD:713956221 H small nuclear RNA activating complex polypeptide 1 gene taxon:9606 20260519 ClinVar RGD 1312252 OXCT1 HP:0000007 MIM:245050|PMID:10964512|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250912 HPO RGD 1312252 OXCT1 HP:0001252 ORPHA:832|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250814 HPO RGD 1312252 OXCT1 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:401855669 H 3-oxoacid CoA-transferase 1 gene taxon:9606 20260519 ClinVar RGD 1312252 OXCT1 HP:0001254 ORPHA:832|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250814 HPO RGD 1312252 OXCT1 HP:0001259 ORPHA:832|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250814 HPO RGD 1312252 OXCT1 HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:155267841 H 3-oxoacid CoA-transferase 1 gene taxon:9606 20260519 ClinVar RGD 1312252 OXCT1 HP:0001531 ORPHA:832|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250814 HPO RGD 1312252 OXCT1 HP:0001640 ORPHA:832|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250814 HPO RGD 1312252 OXCT1 HP:0001942 PMID:25741868|RGD:8554872 IAGP RGD:155267841 H 3-oxoacid CoA-transferase 1 gene taxon:9606 20260519 ClinVar RGD 1312252 OXCT1 HP:0001943 PMID:25741868|RGD:8554872 IAGP RGD:155267841 H 3-oxoacid CoA-transferase 1 gene taxon:9606 20260519 ClinVar RGD 1312252 OXCT1 HP:0001944 ORPHA:832|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250814 HPO RGD 1312252 OXCT1 HP:0001993 ORPHA:832|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250814 HPO RGD 1312252 OXCT1 HP:0001993 PMID:25741868|RGD:8554872 IAGP RGD:401855669 H 3-oxoacid CoA-transferase 1 gene taxon:9606 20260519 ClinVar RGD 1312252 OXCT1 HP:0002013 MIM:245050|ORPHA:832|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250814 HPO RGD 1312252 OXCT1 HP:0002018 ORPHA:832|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250814 HPO RGD 1312252 OXCT1 HP:0002789 MIM:245050|ORPHA:832|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250814 HPO RGD 1312252 OXCT1 HP:0002789 PMID:25741868|RGD:8554872 IAGP RGD:401855669 H 3-oxoacid CoA-transferase 1 gene taxon:9606 20260519 ClinVar RGD 1312252 OXCT1 HP:0002861 RGD:8554872 IAGP RGD:713877117 H 3-oxoacid CoA-transferase 1 gene taxon:9606 20260519 ClinVar RGD 1312252 OXCT1 HP:0002861 RGD:8554872 IAGP RGD:713877128 H 3-oxoacid CoA-transferase 1 gene taxon:9606 20260519 ClinVar RGD 1312252 OXCT1 HP:0002919 MIM:245050|ORPHA:832|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250814 HPO RGD 1312252 OXCT1 HP:0002919 PMID:25741868|RGD:8554872 IAGP RGD:401855669 H 3-oxoacid CoA-transferase 1 gene taxon:9606 20260519 ClinVar RGD 1312252 OXCT1 HP:0003623 MIM:245050|PMID:8751852|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250912 HPO RGD 1312252 OXCT1 HP:0004325 ORPHA:832|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250814 HPO RGD 1312252 OXCT1 HP:0005974 MIM:245050|PMID:8751852|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250912 HPO RGD 1312252 OXCT1 HP:0031962 PMID:25741868|RGD:8554872 IAGP RGD:155267841 H 3-oxoacid CoA-transferase 1 gene taxon:9606 20260519 ClinVar RGD 1312252 OXCT1 HP:0040155 MIM:245050|PMID:8751852|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250912 HPO RGD 1312252 OXCT1 HP:0100242 RGD:8554872 IAGP RGD:713877093 H 3-oxoacid CoA-transferase 1 gene taxon:9606 20260519 ClinVar RGD 1312252 OXCT1 HP:0410175 ORPHA:832|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250814 HPO RGD 1312252 OXCT1 HP:0410175 PMID:25741868|RGD:8554872 IAGP RGD:401855669 H 3-oxoacid CoA-transferase 1 gene taxon:9606 20260519 ClinVar RGD 1312252 OXCT1 HP:6000361 MIM:245050|ORPHA:832|PMID:11757586|RGD:8699517 IAGP H 3-oxoacid CoA-transferase 1 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000006 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20251023 HPO RGD 1312254 DDR2 HP:0000007 MIM:271665|PMID:19110212|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0000212 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000218 MIM:271665|MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000218 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0000218 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0000260 MIM:271665|PMID:19110212|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000272 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0000276 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000283 MIM:271665|PMID:19110212|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000286 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0000316 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000331 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000343 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0000347 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0000347 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0000347 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0000348 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0000348 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0000358 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000369 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000405 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000413 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000430 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000457 MIM:271665|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000460 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000470 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0000505 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000520 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0000556 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000581 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0000678 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0000767 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0000768 MIM:271665|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0000773 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0000774 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0000774 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0000774 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0000887 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0000887 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0000907 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0000922 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0000926 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0000926 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0000926 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0000963 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0001058 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0001156 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0001156 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0001169 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0001230 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0001239 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0001252 MIM:271665|PMID:19110212|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0001263 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0001270 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0001386 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0001402 RGD:8554872 IAGP RGD:713757536 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0001511 PMID:25741868|RGD:8554872 IAGP RGD:713881201 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0001591 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0001840 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0002007 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0002091 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0002107 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0002176 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0002650 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20251023 HPO RGD 1312254 DDR2 HP:0002651 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0002651 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0002651 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0002787 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0002860 RGD:8554872 IAGP RGD:12836223 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250107 ClinVar RGD 1312254 DDR2 HP:0002869 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0002979 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0002983 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0002987 MIM:271665|MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0003015 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0003026 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0003026 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0003026 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0003085 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0003196 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0003311 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0003320 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0003396 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0003467 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0003498 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0003498 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0003856 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0003856 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0004279 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0005257 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0005280 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0005462 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0005622 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0006009 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0006380 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0006384 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0006384 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0006466 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0006532 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0006600 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0007502 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0008873 MIM:271665|PMID:19110212|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0009134 PMID:25741868|PMID:30449416|PMID:35221872|RGD:8554872 IAGP RGD:13827459 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260602 ClinVar RGD 1312254 DDR2 HP:0009164 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0009381 MIM:271665|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0009473 PMID:25741868|PMID:30449416|PMID:35221872|RGD:8554872 IAGP RGD:13827459 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260602 ClinVar RGD 1312254 DDR2 HP:0009473 PMID:25741868|PMID:30449416|RGD:8554872 IAGP RGD:14392944 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260707 ClinVar RGD 1312254 DDR2 HP:0009771 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0009797 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0009803 MIM:271665|PMID:19110212|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0009803 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0009803 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0009826 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0009826 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0009875 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0009931 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0010049 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260209 HPO RGD 1312254 DDR2 HP:0010049 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0010049 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0010655 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0010783 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0011120 MIM:271665|PMID:19110212|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0011496 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0011800 MIM:271665|MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0011800 PMID:25741868|RGD:8554872 IAGP RGD:151348539 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0011800 PMID:25741868|RGD:8554872 IAGP RGD:151349789 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0012126 RGD:8554872 IAGP RGD:713787831 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0012785 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0025616 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0030043 MIM:271665|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230821 HPO RGD 1312254 DDR2 HP:0030078 PMID:27993330|RGD:8554872 IAGP RGD:243053423 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230411 ClinVar RGD 1312254 DDR2 HP:0030078 PMID:27993330|RGD:8554872 IAGP RGD:243053540 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230411 ClinVar RGD 1312254 DDR2 HP:0030078 PMID:27993330|RGD:8554872 IAGP RGD:243053542 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20230411 ClinVar RGD 1312254 DDR2 HP:0030358 RGD:8554872 IAGP RGD:12835187 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250107 ClinVar RGD 1312254 DDR2 HP:0030358 RGD:8554872 IAGP RGD:12835275 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250107 ClinVar RGD 1312254 DDR2 HP:0030358 RGD:8554872 IAGP RGD:12836223 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250107 ClinVar RGD 1312254 DDR2 HP:0030358 RGD:8554872 IAGP RGD:12840304 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250107 ClinVar RGD 1312254 DDR2 HP:0030359 RGD:8554872 IAGP RGD:12835187 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250107 ClinVar RGD 1312254 DDR2 HP:0030359 RGD:8554872 IAGP RGD:12835275 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250107 ClinVar RGD 1312254 DDR2 HP:0030359 RGD:8554872 IAGP RGD:12840304 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250107 ClinVar RGD 1312254 DDR2 HP:0030359 RGD:8554872 IAGP RGD:12845423 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250107 ClinVar RGD 1312254 DDR2 HP:0030359 RGD:8554872 IAGP RGD:38597892 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20210323 ClinVar RGD 1312254 DDR2 HP:0030674 MIM:271665|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0032107 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0045025 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0100242 RGD:8554872 IAGP RGD:713867605 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0100526 RGD:8554872 IAGP RGD:713867570 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0100526 RGD:8554872 IAGP RGD:713869009 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0100526 RGD:8554872 IAGP RGD:713869672 H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312254 DDR2 HP:0100593 MIM:271665|PMID:19110212|PMID:20223752|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0100689 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0100720 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312254 DDR2 HP:0430007 MIM:618175|PMID:30449416|RGD:8699517 IAGP H discoidin domain receptor tyrosine kinase 2 gene taxon:9606 20250912 HPO RGD 1312257 TOLLIP HP:0002206 RGD:8554872 IAGP RGD:151233762 H toll interacting protein gene taxon:9606 20260519 ClinVar RGD 1312257 TOLLIP HP:0006510 RGD:8554872 IAGP RGD:151233761 H toll interacting protein gene taxon:9606 20220118 ClinVar RGD 1312257 TOLLIP HP:0006510 RGD:8554872 IAGP RGD:151233762 H toll interacting protein gene taxon:9606 20220118 ClinVar RGD 1312257 TOLLIP HP:0100242 RGD:8554872 IAGP RGD:714221590 H toll interacting protein gene taxon:9606 20260519 ClinVar RGD 1312257 TOLLIP HP:0100526 RGD:8554872 IAGP RGD:714221601 H toll interacting protein gene taxon:9606 20260519 ClinVar RGD 1312259 PANK1 HP:0006770 RGD:8554872 IAGP RGD:713384897 H pantothenate kinase 1 gene taxon:9606 20260519 ClinVar RGD 1312259 PANK1 HP:0011797 RGD:8554872 IAGP RGD:713726840 H pantothenate kinase 1 gene taxon:9606 20260519 ClinVar RGD 1312259 PANK1 HP:0012126 RGD:8554872 IAGP RGD:714011875 H pantothenate kinase 1 gene taxon:9606 20260519 ClinVar RGD 1312259 PANK1 HP:0100522 RGD:8554872 IAGP RGD:713384864 H pantothenate kinase 1 gene taxon:9606 20260519 ClinVar RGD 1312261 GDF1 HP:0000006 MIM:613854|PMID:17924340|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20260209 HPO RGD 1312261 GDF1 HP:0000007 MIM:208530|PMID:20413652|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250912 HPO RGD 1312261 GDF1 HP:0000023 MIM:208530|PMID:28991257|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250912 HPO RGD 1312261 GDF1 HP:0000028 ORPHA:3303|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0000233 ORPHA:3303|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0000268 ORPHA:3303|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0000337 ORPHA:3303|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20260209 HPO RGD 1312261 GDF1 HP:0000520 ORPHA:3303|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20260209 HPO RGD 1312261 GDF1 HP:0001156 ORPHA:3303|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0001274 MIM:208530|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0001511 ORPHA:3303|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0001627 RGD:243065149|PMID:23076529 IAGP H growth differentiation factor 1 gene taxon:9606 20230412 RGD RGD 1312261 GDF1 HP:0001629 MIM:208530|MIM:613854|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250416 HPO RGD 1312261 GDF1 HP:0001631 MIM:208530|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0001636 MIM:208530|MIM:613854|ORPHA:3303|PMID:28991257|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20260209 HPO RGD 1312261 GDF1 HP:0001642 MIM:208530|MIM:613854|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250416 HPO RGD 1312261 GDF1 HP:0001651 MIM:208530|PMID:20413652|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250912 HPO RGD 1312261 GDF1 HP:0001669 MIM:208530|MIM:613854|PMID:17924340|PMID:28991257|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250912 HPO RGD 1312261 GDF1 HP:0001674 MIM:208530|MIM:613854|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250416 HPO RGD 1312261 GDF1 HP:0001680 MIM:613854|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0001684 MIM:613854|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0001696 MIM:208530|PMID:20413652|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250912 HPO RGD 1312261 GDF1 HP:0001719 MIM:613854|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0001746 MIM:208530|PMID:20413652|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250912 HPO RGD 1312261 GDF1 HP:0001748 MIM:208530|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0001750 MIM:208530|MIM:613854|PMID:20413652|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250912 HPO RGD 1312261 GDF1 HP:0002101 MIM:208530|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0004209 ORPHA:3303|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20260209 HPO RGD 1312261 GDF1 HP:0004467 ORPHA:3303|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20260209 HPO RGD 1312261 GDF1 HP:0004935 MIM:208530|MIM:613854|PMID:20413652|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250912 HPO RGD 1312261 GDF1 HP:0005105 ORPHA:3303|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0005160 MIM:208530|MIM:613854|PMID:20413652|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250912 HPO RGD 1312261 GDF1 HP:0005304 MIM:613854|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0009891 ORPHA:3303|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0011536 MIM:208530|PMID:20413652|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250912 HPO RGD 1312261 GDF1 HP:0011565 MIM:208530|PMID:20413652|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250912 HPO RGD 1312261 GDF1 HP:0012020 MIM:613854|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 HP:0031565 MIM:208530|PMID:17924340|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250912 HPO RGD 1312261 GDF1 HP:0031834 MIM:208530|PMID:20413652|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20250912 HPO RGD 1312261 GDF1 HP:0032092 MIM:613854|RGD:8699517 IAGP H growth differentiation factor 1 gene taxon:9606 20230821 HPO RGD 1312261 GDF1 susceptibility HP:0001710 RGD:243065149|PMID:23076529 IAGP H growth differentiation factor 1 gene taxon:9606 20230412 RGD RGD 1312261 GDF1 susceptibility HP:0032092 RGD:11536909|PMID:26656983 IAGP H growth differentiation factor 1 gene taxon:9606 20230412 RGD RGD 1312263 CHORDC1 HP:0012126 RGD:8554872 IAGP RGD:714028541 H cysteine and histidine rich domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1312263 CHORDC1 HP:0012126 RGD:8554872 IAGP RGD:714103302 H cysteine and histidine rich domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1312263 CHORDC1 HP:0030359 RGD:8554872 IAGP RGD:713424638 H cysteine and histidine rich domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1312263 CHORDC1 HP:0030359 RGD:8554872 IAGP RGD:713424671 H cysteine and histidine rich domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1312263 CHORDC1 HP:0100242 RGD:8554872 IAGP RGD:714100309 H cysteine and histidine rich domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1312263 CHORDC1 HP:0100242 RGD:8554872 IAGP RGD:714103298 H cysteine and histidine rich domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1312263 CHORDC1 HP:0100526 RGD:8554872 IAGP RGD:713424658 H cysteine and histidine rich domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1312265 EPHA1 HP:0004808 RGD:8554872 IAGP RGD:713737223 H EPH receptor A1 gene taxon:9606 20260519 ClinVar RGD 1312265 EPHA1 HP:0004808 RGD:8554872 IAGP RGD:713981472 H EPH receptor A1 gene taxon:9606 20260519 ClinVar RGD 1312265 EPHA1 HP:0006770 RGD:8554872 IAGP RGD:713477673 H EPH receptor A1 gene taxon:9606 20260519 ClinVar RGD 1312265 EPHA1 HP:0006770 RGD:8554872 IAGP RGD:714121787 H EPH receptor A1 gene taxon:9606 20260519 ClinVar RGD 1312265 EPHA1 HP:0012126 RGD:8554872 IAGP RGD:713576923 H EPH receptor A1 gene taxon:9606 20260519 ClinVar RGD 1312265 EPHA1 HP:0012126 RGD:8554872 IAGP RGD:713576941 H EPH receptor A1 gene taxon:9606 20260519 ClinVar RGD 1312265 EPHA1 HP:0012126 RGD:8554872 IAGP RGD:713576954 H EPH receptor A1 gene taxon:9606 20260519 ClinVar RGD 1312265 EPHA1 HP:0030359 RGD:8554872 IAGP RGD:713477602 H EPH receptor A1 gene taxon:9606 20260519 ClinVar RGD 1312265 EPHA1 HP:0030359 RGD:8554872 IAGP RGD:713477653 H EPH receptor A1 gene taxon:9606 20260519 ClinVar RGD 1312265 EPHA1 HP:0100242 RGD:8554872 IAGP RGD:713477746 H EPH receptor A1 gene taxon:9606 20260519 ClinVar RGD 1312265 EPHA1 HP:0100526 RGD:8554872 IAGP RGD:713477540 H EPH receptor A1 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0000007 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0000074 RGD:8554872 IAGP RGD:151663522 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0000074 RGD:8554872 IAGP RGD:151663523 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0000126 RGD:8554872 IAGP RGD:151663522 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0000126 RGD:8554872 IAGP RGD:151663523 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0000218 MIM:617519|PMID:28540413|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0000218 PMID:28540413|RGD:8554872 IAGP RGD:12912043 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0000238 PMID:25741868|RGD:8554872 IAGP RGD:155938953 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0000407 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0000505 RGD:8554872 IAGP RGD:13786204 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260602 ClinVar RGD 1312269 SPTBN4 HP:0000639 RGD:8554872 IAGP RGD:151663522 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0000639 RGD:8554872 IAGP RGD:151663523 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0000666 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0000717 RGD:8554872 IAGP RGD:150547291 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0000762 PMID:28540413|RGD:8554872 IAGP RGD:12912043 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0000964 RGD:8554872 IAGP RGD:13532743 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0001250 MIM:617519|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20230821 HPO RGD 1312269 SPTBN4 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:401855916 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:401855918 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0001250 RGD:8554872 IAGP RGD:150547274 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0001250 RGD:8554872 IAGP RGD:150547275 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0001252 MIM:617519|PMID:28540413|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:155938953 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:736709023 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260707 ClinVar RGD 1312269 SPTBN4 HP:0001263 MIM:617519|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20230821 HPO RGD 1312269 SPTBN4 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155938953 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0001263 PMID:28540413|RGD:8554872 IAGP RGD:12912043 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0001263 RGD:8554872 IAGP RGD:151663522 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0001263 RGD:8554872 IAGP RGD:151663523 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0001266 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0001270 MIM:617519|PMID:28540413|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0001284 MIM:617519|PMID:28540413|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0001284 PMID:28540413|RGD:8554872 IAGP RGD:12912043 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0001290 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0001319 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0001324 PMID:28540413|RGD:8554872 IAGP RGD:12912043 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0001344 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0001371 RGD:8554872 IAGP RGD:25317057 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20210323 ClinVar RGD 1312269 SPTBN4 HP:0001629 RGD:8554872 IAGP RGD:151663522 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0001629 RGD:8554872 IAGP RGD:151663523 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0002015 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0002020 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0002020 PMID:28540413|RGD:8554872 IAGP RGD:12912043 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0002033 MIM:617519|PMID:28540413|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0002058 MIM:617519|PMID:28540413|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0002121 RGD:8554872 IAGP RGD:150547274 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0002121 RGD:8554872 IAGP RGD:150547275 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0002126 RGD:8554872 IAGP RGD:151663522 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0002126 RGD:8554872 IAGP RGD:151663523 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0002194 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0002315 RGD:8554872 IAGP RGD:150547274 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0002315 RGD:8554872 IAGP RGD:150547275 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0002353 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0002376 RGD:8554872 IAGP RGD:150547291 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0002421 MIM:617519|PMID:28540413|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0002421 PMID:28540413|RGD:8554872 IAGP RGD:12912043 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0002460 MIM:617519|PMID:28540413|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0002474 RGD:8554872 IAGP RGD:150547291 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0002500 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0002540 PMID:25741868|RGD:8554872 IAGP RGD:155938953 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0002650 MIM:617519|PMID:28540413|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0002650 PMID:28540413|RGD:8554872 IAGP RGD:12912043 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0002861 RGD:8554872 IAGP RGD:713379982 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0002861 RGD:8554872 IAGP RGD:713380160 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0002861 RGD:8554872 IAGP RGD:713380188 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0003477 MIM:617519|PMID:28540413|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0003554 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0003557 PMID:28540413|RGD:8554872 IAGP RGD:12912043 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0003577 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0003623 MIM:617519|PMID:28540413|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0003693 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0003700 MIM:617519|PMID:28540413|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0004463 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0004891 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0006466 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0006770 RGD:8554872 IAGP RGD:713380462 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0006829 PMID:28540413|RGD:8554872 IAGP RGD:12912043 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0006958 PMID:28540413|RGD:8554872 IAGP RGD:12912043 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0007002 MIM:617519|PMID:28540413|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0007108 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0007220 MIM:617519|PMID:28540413|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0007686 PMID:28540413|RGD:8554872 IAGP RGD:12912043 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0010628 MIM:617519|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20230821 HPO RGD 1312269 SPTBN4 HP:0010628 PMID:28540413|RGD:8554872 IAGP RGD:12912043 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0010863 RGD:8554872 IAGP RGD:150547291 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0010864 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260209 HPO RGD 1312269 SPTBN4 HP:0011344 MIM:617519|PMID:28540413|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0011471 MIM:617519|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0011471 PMID:28540413|RGD:8554872 IAGP RGD:12912043 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0011797 RGD:8554872 IAGP RGD:714268989 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0011807 MIM:617519|PMID:28540413|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0011968 MIM:617519|PMID:28540413|PMID:33772159|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0011968 PMID:25741868|RGD:8554872 IAGP RGD:736709023 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260707 ClinVar RGD 1312269 SPTBN4 HP:0012126 RGD:8554872 IAGP RGD:150542814 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0012448 RGD:8554872 IAGP RGD:15040200 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0012758 RGD:8554872 IAGP RGD:151663522 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0012758 RGD:8554872 IAGP RGD:151663523 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0012760 RGD:8554872 IAGP RGD:150547291 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0030319 MIM:617519|PMID:28540413|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0034677 MIM:617519|PMID:28540413|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0040081 MIM:617519|PMID:28540413|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20250912 HPO RGD 1312269 SPTBN4 HP:0100242 RGD:8554872 IAGP RGD:713379911 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0100522 RGD:8554872 IAGP RGD:713380269 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0100522 RGD:8554872 IAGP RGD:713380398 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0100526 RGD:8554872 IAGP RGD:713380323 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0100704 MIM:617519|RGD:8699517 IAGP H spectrin beta, non-erythrocytic 4 gene taxon:9606 20230821 HPO RGD 1312269 SPTBN4 HP:0100704 RGD:8554872 IAGP RGD:151663522 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312269 SPTBN4 HP:0100704 RGD:8554872 IAGP RGD:151663523 H spectrin beta, non-erythrocytic 4 gene taxon:9606 20260519 ClinVar RGD 1312271 GNAT1 HP:0000006 MIM:610444|PMID:8673138|RGD:8699517 IAGP H G protein subunit alpha transducin 1 gene taxon:9606 20260209 HPO RGD 1312271 GNAT1 HP:0000007 MIM:616389|PMID:22190596|RGD:8699517 IAGP H G protein subunit alpha transducin 1 gene taxon:9606 20260209 HPO RGD 1312271 GNAT1 HP:0000505 MIM:616389|PMID:22190596|RGD:8699517 IAGP H G protein subunit alpha transducin 1 gene taxon:9606 20250912 HPO RGD 1312271 GNAT1 HP:0000510 MIM:616389|PMID:26472407|RGD:8699517 IAGP H G protein subunit alpha transducin 1 gene taxon:9606 20260209 HPO RGD 1312271 GNAT1 HP:0000510 PMID:25741868|PMID:34906470|RGD:8554872 IAGP RGD:150438834 H G protein subunit alpha transducin 1 gene taxon:9606 20230606 ClinVar RGD 1312271 GNAT1 HP:0000510 PMID:28492532|PMID:30718709|RGD:8554872 IAGP RGD:14698531 H G protein subunit alpha transducin 1 gene taxon:9606 20210511 ClinVar RGD 1312271 GNAT1 HP:0000510 RGD:8554872 IAGP RGD:21405025 H G protein subunit alpha transducin 1 gene taxon:9606 20210323 ClinVar RGD 1312271 GNAT1 HP:0000510 RGD:8554872 IAGP RGD:21405026 H G protein subunit alpha transducin 1 gene taxon:9606 20210323 ClinVar RGD 1312271 GNAT1 HP:0000543 MIM:616389|PMID:26472407|RGD:8699517 IAGP H G protein subunit alpha transducin 1 gene taxon:9606 20260209 HPO RGD 1312271 GNAT1 HP:0000556 PMID:11095744|PMID:28492532|PMID:31736247|RGD:8554872 IAGP RGD:26910613 H G protein subunit alpha transducin 1 gene taxon:9606 20250311 ClinVar RGD 1312271 GNAT1 HP:0000556 PMID:25741868|PMID:28492532|PMID:33946315|PMID:34064|PMID:34064005|RGD:8554872 IAGP RGD:156094012 H G protein subunit alpha transducin 1 gene taxon:9606 20250107 ClinVar RGD 1312271 GNAT1 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126738055 H G protein subunit alpha transducin 1 gene taxon:9606 20250107 ClinVar RGD 1312271 GNAT1 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126919448 H G protein subunit alpha transducin 1 gene taxon:9606 20250107 ClinVar RGD 1312271 GNAT1 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402517665 H G protein subunit alpha transducin 1 gene taxon:9606 20250107 ClinVar RGD 1312271 GNAT1 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:596939456 H G protein subunit alpha transducin 1 gene taxon:9606 20260519 ClinVar RGD 1312271 GNAT1 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596929662 H G protein subunit alpha transducin 1 gene taxon:9606 20241210 ClinVar RGD 1312271 GNAT1 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596942293 H G protein subunit alpha transducin 1 gene taxon:9606 20250107 ClinVar RGD 1312271 GNAT1 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944811 H G protein subunit alpha transducin 1 gene taxon:9606 20250107 ClinVar RGD 1312271 GNAT1 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944828 H G protein subunit alpha transducin 1 gene taxon:9606 20250107 ClinVar RGD 1312271 GNAT1 HP:0000556 RGD:8554872 IAGP RGD:26909620 H G protein subunit alpha transducin 1 gene taxon:9606 20210323 ClinVar RGD 1312271 GNAT1 HP:0001133 MIM:616389|PMID:26472407|RGD:8699517 IAGP H G protein subunit alpha transducin 1 gene taxon:9606 20260209 HPO RGD 1312271 GNAT1 HP:0001402 RGD:8554872 IAGP RGD:713771998 H G protein subunit alpha transducin 1 gene taxon:9606 20260519 ClinVar RGD 1312271 GNAT1 HP:0007642 MIM:610444|MIM:616389|PMID:26472407|PMID:8673138|RGD:8699517 IAGP H G protein subunit alpha transducin 1 gene taxon:9606 20250912 HPO RGD 1312273 POGLUT2 HP:0002861 RGD:8554872 IAGP RGD:713849674 H protein O-glucosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1312273 POGLUT2 HP:0003003 RGD:8554872 IAGP RGD:713849573 H protein O-glucosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1312273 POGLUT2 HP:0004808 RGD:8554872 IAGP RGD:713654514 H protein O-glucosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1312273 POGLUT2 HP:0004808 RGD:8554872 IAGP RGD:713657027 H protein O-glucosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1312273 POGLUT2 HP:0006725 RGD:8554872 IAGP RGD:713849635 H protein O-glucosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1312273 POGLUT2 HP:0011797 RGD:8554872 IAGP RGD:713659270 H protein O-glucosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1312273 POGLUT2 HP:0030359 RGD:8554872 IAGP RGD:713849713 H protein O-glucosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1312273 POGLUT2 HP:0100526 RGD:8554872 IAGP RGD:713849652 H protein O-glucosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1312275 KLHL8 HP:0004758 RGD:8554872 IAGP RGD:408368180 H kelch like family member 8 gene taxon:9606 20241112 ClinVar RGD 1312275 KLHL8 HP:0006770 RGD:8554872 IAGP RGD:714199673 H kelch like family member 8 gene taxon:9606 20260519 ClinVar RGD 1312280 TUBGCP5 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:13610578 H tubulin gamma complex component 5 gene taxon:9606 20210323 ClinVar RGD 1312280 TUBGCP5 HP:0011797 RGD:8554872 IAGP RGD:714162837 H tubulin gamma complex component 5 gene taxon:9606 20260519 ClinVar RGD 1312280 TUBGCP5 HP:0012126 RGD:8554872 IAGP RGD:713554784 H tubulin gamma complex component 5 gene taxon:9606 20260519 ClinVar RGD 1312280 TUBGCP5 HP:0012126 RGD:8554872 IAGP RGD:713957362 H tubulin gamma complex component 5 gene taxon:9606 20260519 ClinVar RGD 1312280 TUBGCP5 HP:0012126 RGD:8554872 IAGP RGD:713957367 H tubulin gamma complex component 5 gene taxon:9606 20260519 ClinVar RGD 1312280 TUBGCP5 HP:0012126 RGD:8554872 IAGP RGD:713957378 H tubulin gamma complex component 5 gene taxon:9606 20260519 ClinVar RGD 1312280 TUBGCP5 HP:0030359 RGD:8554872 IAGP RGD:713553067 H tubulin gamma complex component 5 gene taxon:9606 20260519 ClinVar RGD 1312280 TUBGCP5 HP:0100242 RGD:8554872 IAGP RGD:713957370 H tubulin gamma complex component 5 gene taxon:9606 20260519 ClinVar RGD 1312280 TUBGCP5 HP:0100526 RGD:8554872 IAGP RGD:713553013 H tubulin gamma complex component 5 gene taxon:9606 20260519 ClinVar RGD 1312280 TUBGCP5 HP:0100526 RGD:8554872 IAGP RGD:713553085 H tubulin gamma complex component 5 gene taxon:9606 20260519 ClinVar RGD 1312280 TUBGCP5 HP:0100526 RGD:8554872 IAGP RGD:713553140 H tubulin gamma complex component 5 gene taxon:9606 20260519 ClinVar RGD 1312280 TUBGCP5 HP:0100526 RGD:8554872 IAGP RGD:713553176 H tubulin gamma complex component 5 gene taxon:9606 20260519 ClinVar RGD 1312280 TUBGCP5 HP:0100526 RGD:8554872 IAGP RGD:713957370 H tubulin gamma complex component 5 gene taxon:9606 20260519 ClinVar RGD 1312280 TUBGCP5 HP:0100526 RGD:8554872 IAGP RGD:714164091 H tubulin gamma complex component 5 gene taxon:9606 20260707 ClinVar RGD 1312283 RABGAP1 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:713494542 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0000360 PMID:25741868|RGD:8554872 IAGP RGD:616933583 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:616933583 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0000670 PMID:25741868|RGD:8554872 IAGP RGD:616933583 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0000678 PMID:25741868|RGD:8554872 IAGP RGD:616933583 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:616933583 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0001649 PMID:25741868|RGD:8554872 IAGP RGD:616933583 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0002321 PMID:25741868|RGD:8554872 IAGP RGD:616933583 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0002719 PMID:25741868|RGD:8554872 IAGP RGD:616933583 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0002757 PMID:25741868|RGD:8554872 IAGP RGD:616933583 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0004379 PMID:25741868|RGD:8554872 IAGP RGD:616933583 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0004808 RGD:8554872 IAGP RGD:713511153 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0006725 RGD:8554872 IAGP RGD:713498596 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0006770 RGD:8554872 IAGP RGD:713498359 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0006770 RGD:8554872 IAGP RGD:713498474 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0012126 RGD:8554872 IAGP RGD:713717345 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0012126 RGD:8554872 IAGP RGD:714254367 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0030153 RGD:8554872 IAGP RGD:713717330 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0031869 PMID:25741868|RGD:8554872 IAGP RGD:616933583 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0100242 RGD:8554872 IAGP RGD:713498393 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0100242 RGD:8554872 IAGP RGD:713498519 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0100242 RGD:8554872 IAGP RGD:713498687 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0100522 RGD:8554872 IAGP RGD:713717330 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312283 RABGAP1 HP:0100526 RGD:8554872 IAGP RGD:713498453 H RAB GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1312286 MMS22L HP:0100615 RGD:8554872 IAGP RGD:713491610 H MMS22 like, DNA repair protein gene taxon:9606 20260519 ClinVar RGD 1312287 KIAA0930 HP:0002861 RGD:8554872 IAGP RGD:713762669 H KIAA0930 gene taxon:9606 20260519 ClinVar RGD 1312287 KIAA0930 HP:0002861 RGD:8554872 IAGP RGD:713762684 H KIAA0930 gene taxon:9606 20260519 ClinVar RGD 1312287 KIAA0930 HP:0004808 RGD:8554872 IAGP RGD:714193525 H KIAA0930 gene taxon:9606 20260519 ClinVar RGD 1312287 KIAA0930 HP:0012126 RGD:8554872 IAGP RGD:713604774 H KIAA0930 gene taxon:9606 20260519 ClinVar RGD 1312287 KIAA0930 HP:0012126 RGD:8554872 IAGP RGD:713604781 H KIAA0930 gene taxon:9606 20260519 ClinVar RGD 1312287 KIAA0930 HP:0100242 RGD:8554872 IAGP RGD:713762597 H KIAA0930 gene taxon:9606 20260519 ClinVar RGD 1312287 KIAA0930 HP:0100526 RGD:8554872 IAGP RGD:713762637 H KIAA0930 gene taxon:9606 20260519 ClinVar RGD 1312287 KIAA0930 HP:0100526 RGD:8554872 IAGP RGD:713762652 H KIAA0930 gene taxon:9606 20260519 ClinVar RGD 1312287 KIAA0930 HP:0100526 RGD:8554872 IAGP RGD:713762697 H KIAA0930 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000007 MIM:612350|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20260209 HPO RGD 1312289 SLC39A13 HP:0000014 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000080 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000080 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000193 MIM:612350|PMID:31438591|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20260209 HPO RGD 1312289 SLC39A13 HP:0000202 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000218 MIM:612350|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20230821 HPO RGD 1312289 SLC39A13 HP:0000218 PMID:25741868|RGD:8554872 IAGP RGD:713710430 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000307 PMID:25741868|RGD:8554872 IAGP RGD:713710430 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000316 MIM:612350|PMID:31438591|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250912 HPO RGD 1312289 SLC39A13 HP:0000348 PMID:25741868|RGD:8554872 IAGP RGD:713710430 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000360 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000360 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000360 PMID:28492532|RGD:8554872 IAGP RGD:151744825 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000360 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000366 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000421 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000421 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000464 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000465 MIM:612350|PMID:31438591|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250912 HPO RGD 1312289 SLC39A13 HP:0000494 MIM:612350|ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250416 HPO RGD 1312289 SLC39A13 HP:0000496 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000496 PMID:28492532|RGD:8554872 IAGP RGD:151744825 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000496 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000504 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000504 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000520 ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20260209 HPO RGD 1312289 SLC39A13 HP:0000520 RGD:11553863|PMID:18513683 IAGP H solute carrier family 39 member 13 gene taxon:9606 20161014 RGD RGD 1312289 SLC39A13 HP:0000540 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:151744825 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000592 MIM:612350|ORPHA:157965|PMID:31438591|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20260209 HPO RGD 1312289 SLC39A13 HP:0000668 MIM:612350|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20260209 HPO RGD 1312289 SLC39A13 HP:0000684 MIM:612350|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20230821 HPO RGD 1312289 SLC39A13 HP:0000689 MIM:612350|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20230821 HPO RGD 1312289 SLC39A13 HP:0000716 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000716 PMID:28492532|RGD:8554872 IAGP RGD:151744825 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000718 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:151744825 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000823 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000836 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000853 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000926 MIM:612350|ORPHA:157965|PMID:31438591|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20260209 HPO RGD 1312289 SLC39A13 HP:0000926 RGD:11553863|PMID:18513683 IAGP H solute carrier family 39 member 13 gene taxon:9606 20161014 RGD RGD 1312289 SLC39A13 HP:0000938 MIM:612350|ORPHA:157965|PMID:31438591|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250912 HPO RGD 1312289 SLC39A13 HP:0000944 ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20230821 HPO RGD 1312289 SLC39A13 HP:0000953 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000963 MIM:612350|ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250416 HPO RGD 1312289 SLC39A13 HP:0000974 MIM:612350|ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250416 HPO RGD 1312289 SLC39A13 HP:0000974 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000974 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000978 MIM:612350|ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250416 HPO RGD 1312289 SLC39A13 HP:0000978 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0000978 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001010 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001015 MIM:612350|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20230821 HPO RGD 1312289 SLC39A13 HP:0001073 MIM:612350|PMID:31438591|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250912 HPO RGD 1312289 SLC39A13 HP:0001075 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001075 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001075 PMID:28492532|RGD:8554872 IAGP RGD:151744825 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001075 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001182 MIM:612350|ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250416 HPO RGD 1312289 SLC39A13 HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001270 MIM:612350|PMID:31438591|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250912 HPO RGD 1312289 SLC39A13 HP:0001371 ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20230821 HPO RGD 1312289 SLC39A13 HP:0001382 MIM:612350|PMID:31438591|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20260209 HPO RGD 1312289 SLC39A13 HP:0001392 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001402 RGD:8554872 IAGP RGD:713349582 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001469 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001508 ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20230821 HPO RGD 1312289 SLC39A13 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:713710430 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001513 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001513 PMID:28492532|RGD:8554872 IAGP RGD:151744825 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001626 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001763 MIM:612350|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20260209 HPO RGD 1312289 SLC39A13 HP:0001763 PMID:25741868|RGD:8554872 IAGP RGD:713710430 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001763 RGD:11553863|PMID:18513683 IAGP H solute carrier family 39 member 13 gene taxon:9606 20161014 RGD RGD 1312289 SLC39A13 HP:0001787 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001787 PMID:28492532|RGD:8554872 IAGP RGD:151744825 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001787 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0001877 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002007 MIM:612350|PMID:31438591|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250912 HPO RGD 1312289 SLC39A13 HP:0002087 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002099 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002099 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002242 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002242 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002321 PMID:28492532|RGD:8554872 IAGP RGD:151744825 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002321 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002353 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002354 PMID:28492532|RGD:8554872 IAGP RGD:151744825 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002354 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002515 MIM:612350|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20251023 HPO RGD 1312289 SLC39A13 HP:0002577 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002652 ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20230821 HPO RGD 1312289 SLC39A13 HP:0002659 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002686 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:151744825 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002721 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002751 MIM:612350|PMID:31438591|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250912 HPO RGD 1312289 SLC39A13 HP:0002793 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002960 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002960 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0002982 PMID:25741868|RGD:8554872 IAGP RGD:713710430 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0003015 MIM:612350|PMID:31438591|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250912 HPO RGD 1312289 SLC39A13 HP:0003071 MIM:612350|ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250416 HPO RGD 1312289 SLC39A13 HP:0003083 MIM:612350|PMID:31438591|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250912 HPO RGD 1312289 SLC39A13 HP:0003124 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0003124 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0003301 MIM:612350|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20230821 HPO RGD 1312289 SLC39A13 HP:0003370 MIM:612350|ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250416 HPO RGD 1312289 SLC39A13 HP:0003393 MIM:612350|ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250416 HPO RGD 1312289 SLC39A13 HP:0003498 PMID:25741868|RGD:8554872 IAGP RGD:713710430 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0003549 RGD:11553861|PMID:18985159 IAGP H solute carrier family 39 member 13 gene taxon:9606 20161014 RGD RGD 1312289 SLC39A13 HP:0004322 MIM:612350|PMID:31438591|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250912 HPO RGD 1312289 SLC39A13 HP:0004322 RGD:11553861|PMID:18985159 IAGP H solute carrier family 39 member 13 gene taxon:9606 20161014 RGD RGD 1312289 SLC39A13 HP:0005280 MIM:612350|PMID:31438591|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20260209 HPO RGD 1312289 SLC39A13 HP:0005616 PMID:25741868|RGD:8554872 IAGP RGD:713710430 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0005775 RGD:11553861|PMID:18985159 IAGP H solute carrier family 39 member 13 gene taxon:9606 20161014 RGD RGD 1312289 SLC39A13 HP:0005922 RGD:11553863|PMID:18513683 IAGP H solute carrier family 39 member 13 gene taxon:9606 20161014 RGD RGD 1312289 SLC39A13 HP:0006429 MIM:612350|ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250416 HPO RGD 1312289 SLC39A13 HP:0006770 RGD:8554872 IAGP RGD:713374573 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0006770 RGD:8554872 IAGP RGD:713374694 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0006770 RGD:8554872 IAGP RGD:713374720 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0006770 RGD:8554872 IAGP RGD:713374773 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0007832 RGD:11553863|PMID:18513683 IAGP H solute carrier family 39 member 13 gene taxon:9606 20181101 RGD RGD 1312289 SLC39A13 HP:0008848 MIM:612350|ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250416 HPO RGD 1312289 SLC39A13 HP:0009473 MIM:612350|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20230821 HPO RGD 1312289 SLC39A13 HP:0009803 MIM:612350|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20260209 HPO RGD 1312289 SLC39A13 HP:0010049 MIM:612350|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20260209 HPO RGD 1312289 SLC39A13 HP:0010489 ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20230821 HPO RGD 1312289 SLC39A13 HP:0010674 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0010674 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0010780 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0011121 RGD:11553863|PMID:18513683 IAGP H solute carrier family 39 member 13 gene taxon:9606 20161014 RGD RGD 1312289 SLC39A13 HP:0011438 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0011889 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0011968 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0012126 PMID:28492532|RGD:8554872 IAGP RGD:152133329 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0012126 RGD:8554872 IAGP RGD:714019712 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0012211 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0012647 PMID:28492532|RGD:8554872 IAGP RGD:13482279 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0012647 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0012647 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0100022 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0100242 PMID:28492532|RGD:8554872 IAGP RGD:152133329 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0100490 MIM:612350|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20230821 HPO RGD 1312289 SLC39A13 HP:0100526 PMID:28492532|RGD:8554872 IAGP RGD:152133329 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0100526 PMID:28492532|RGD:8554872 IAGP RGD:156099591 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0100543 PMID:28492532|RGD:8554872 IAGP RGD:38484436 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312289 SLC39A13 HP:0100864 MIM:612350|ORPHA:157965|RGD:8699517 IAGP H solute carrier family 39 member 13 gene taxon:9606 20250416 HPO RGD 1312289 SLC39A13 HP:0410009 PMID:28492532|RGD:8554872 IAGP RGD:14707822 H solute carrier family 39 member 13 gene taxon:9606 20260519 ClinVar RGD 1312290 TXNDC15 HP:0000003 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000007 MIM:619879|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0000028 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000037 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000062 MIM:619879|ORPHA:564|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0000062 PMID:25741868|RGD:8554872 IAGP RGD:11558329 H thioredoxin domain containing 15 gene taxon:9606 20260602 ClinVar RGD 1312290 TXNDC15 HP:0000068 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000073 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000113 MIM:619879|PMID:27894351|PMID:30851085|PMID:31411728|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0000113 PMID:25741868|RGD:8554872 IAGP RGD:11558321 H thioredoxin domain containing 15 gene taxon:9606 20260602 ClinVar RGD 1312290 TXNDC15 HP:0000113 PMID:25741868|RGD:8554872 IAGP RGD:11558329 H thioredoxin domain containing 15 gene taxon:9606 20260602 ClinVar RGD 1312290 TXNDC15 HP:0000151 MIM:619879|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0000175 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000221 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000238 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000252 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000278 MIM:619879|PMID:31411728|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0000293 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000308 MIM:619879|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0000316 MIM:619879|ORPHA:564|PMID:27894351|PMID:31411728|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0000340 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000347 MIM:619879|ORPHA:564|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0000358 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20240815 HPO RGD 1312290 TXNDC15 HP:0000369 MIM:619879|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0000369 PMID:25741868|RGD:8554872 IAGP RGD:11558329 H thioredoxin domain containing 15 gene taxon:9606 20260602 ClinVar RGD 1312290 TXNDC15 HP:0000457 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000463 MIM:619879|PMID:31411728|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0000470 MIM:619879|PMID:31411728|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0000482 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000518 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000528 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000532 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000568 MIM:619879|ORPHA:564|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0000647 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000648 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0000961 MIM:619879|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0001159 MIM:619879|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0001159 PMID:25741868|RGD:8554872 IAGP RGD:11558329 H thioredoxin domain containing 15 gene taxon:9606 20260602 ClinVar RGD 1312290 TXNDC15 HP:0001162 MIM:619879|ORPHA:564|PMID:30851085|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0001177 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0001305 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0001360 MIM:619879|PMID:31411728|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0001395 MIM:619879|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0001538 MIM:619879|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0001562 MIM:619879|ORPHA:564|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0001562 PMID:25741868|RGD:8554872 IAGP RGD:11558329 H thioredoxin domain containing 15 gene taxon:9606 20260602 ClinVar RGD 1312290 TXNDC15 HP:0001653 MIM:619879|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0001696 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0001737 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0001746 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0001747 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0001750 MIM:619879|PMID:31411728|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0001830 MIM:619879|ORPHA:564|PMID:30851085|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0001883 MIM:619879|ORPHA:564|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0002084 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0002084 PMID:25741868|RGD:8554872 IAGP RGD:11558329 H thioredoxin domain containing 15 gene taxon:9606 20260602 ClinVar RGD 1312290 TXNDC15 HP:0002085 MIM:619879|PMID:27894351|PMID:30851085|PMID:31411728|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0002085 PMID:25741868|RGD:8554872 IAGP RGD:11558321 H thioredoxin domain containing 15 gene taxon:9606 20260602 ClinVar RGD 1312290 TXNDC15 HP:0002089 MIM:619879|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0002107 MIM:619879|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0002323 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0002612 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0003270 MIM:619879|PMID:30851085|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0003577 MIM:619879|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0003811 PMID:25741868|RGD:8554872 IAGP RGD:11558321 H thioredoxin domain containing 15 gene taxon:9606 20260602 ClinVar RGD 1312290 TXNDC15 HP:0003811 PMID:25741868|RGD:8554872 IAGP RGD:11558329 H thioredoxin domain containing 15 gene taxon:9606 20260602 ClinVar RGD 1312290 TXNDC15 HP:0005180 MIM:619879|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0005474 MIM:619879|PMID:31411728|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0006487 MIM:619879|ORPHA:564|PMID:31411728|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0006543 MIM:619879|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0006706 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0006770 RGD:8554872 IAGP RGD:713877436 H thioredoxin domain containing 15 gene taxon:9606 20260519 ClinVar RGD 1312290 TXNDC15 HP:0006870 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0007370 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0008053 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0010295 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0010442 PMID:25741868|RGD:8554872 IAGP RGD:11558321 H thioredoxin domain containing 15 gene taxon:9606 20260602 ClinVar RGD 1312290 TXNDC15 HP:0010442 PMID:25741868|RGD:8554872 IAGP RGD:11558329 H thioredoxin domain containing 15 gene taxon:9606 20260602 ClinVar RGD 1312290 TXNDC15 HP:0010459 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0010880 MIM:619879|PMID:30851085|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0012126 PMID:25741868|RGD:8554872 IAGP RGD:713781798 H thioredoxin domain containing 15 gene taxon:9606 20260616 ClinVar RGD 1312290 TXNDC15 HP:0030680 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312290 TXNDC15 HP:0034198 MIM:619879|PMID:31411728|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0034199 MIM:619879|PMID:30851085|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0100259 MIM:619879|PMID:27894351|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20250912 HPO RGD 1312290 TXNDC15 HP:0100732 ORPHA:564|RGD:8699517 IAGP H thioredoxin domain containing 15 gene taxon:9606 20230821 HPO RGD 1312292 ACTL7A HP:0000007 MIM:620499|PMID:32923619|RGD:8699517 IAGP H actin like 7A gene taxon:9606 20250912 HPO RGD 1312292 ACTL7A HP:0003251 MIM:620499|PMID:32923619|RGD:8699517 IAGP H actin like 7A gene taxon:9606 20250912 HPO RGD 1312292 ACTL7A HP:0011462 MIM:620499|PMID:32923619|PMID:34727571|RGD:8699517 IAGP H actin like 7A gene taxon:9606 20250912 HPO RGD 1312292 ACTL7A HP:0012865 MIM:620499|PMID:32923619|RGD:8699517 IAGP H actin like 7A gene taxon:9606 20250912 HPO RGD 1312292 ACTL7A HP:0012869 MIM:620499|PMID:34727571|RGD:8699517 IAGP H actin like 7A gene taxon:9606 20250912 HPO RGD 1312292 ACTL7A HP:0034913 MIM:620499|PMID:34727571|RGD:8699517 IAGP H actin like 7A gene taxon:9606 20250912 HPO RGD 1312292 ACTL7A HP:6000501 MIM:620499|PMID:32923619|RGD:8699517 IAGP H actin like 7A gene taxon:9606 20250912 HPO RGD 1312294 SRPRB HP:0001402 RGD:8554872 IAGP RGD:713748566 H SRP receptor subunit beta gene taxon:9606 20260519 ClinVar RGD 1312294 SRPRB HP:0012126 RGD:8554872 IAGP RGD:713595992 H SRP receptor subunit beta gene taxon:9606 20260519 ClinVar RGD 1312294 SRPRB HP:0100242 RGD:8554872 IAGP RGD:713595978 H SRP receptor subunit beta gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0000007 MIM:617186|PMID:27122014|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0000126 PMID:25741868|RGD:8554872 IAGP RGD:150557077 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0000126 PMID:25741868|RGD:8554872 IAGP RGD:150557078 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0000238 PMID:25741868|RGD:8554872 IAGP RGD:150557077 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0000238 PMID:25741868|RGD:8554872 IAGP RGD:150557078 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0000473 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0000486 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0000486 PMID:25741868|RGD:8554872 IAGP RGD:150557077 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0000486 PMID:25741868|RGD:8554872 IAGP RGD:150557078 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0000486 PMID:25741868|RGD:8554872 IAGP RGD:151349615 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0000511 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0000639 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0000639 PMID:25741868|RGD:8554872 IAGP RGD:151349615 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0000711 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0000737 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:150557077 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:150557078 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001249 PMID:25741868|PMID:31758406|PMID:35637064|PMID:36773198|PMID:38419707|RGD:8554872 IAGP RGD:713613342 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:150557077 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:150557078 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001250 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0001250 PMID:25741868|PMID:31758406|PMID:35637064|PMID:36773198|PMID:38419707|RGD:8554872 IAGP RGD:713613342 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:150557077 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:150557078 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001251 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:150557077 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:150557078 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001252 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0001259 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0001260 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0001263 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0001272 PMID:25741868|PMID:31758406|PMID:35637064|PMID:36773198|PMID:38419707|RGD:8554872 IAGP RGD:713613342 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:151349615 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001298 MIM:617186|PMID:27122014|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0001298 PMID:25741868|RGD:8554872 IAGP RGD:151349615 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001317 PMID:25741868|RGD:8554872 IAGP RGD:151349615 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001320 PMID:25741868|PMID:31758406|PMID:35637064|PMID:36773198|PMID:38419707|RGD:8554872 IAGP RGD:713613342 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001337 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0001347 PMID:25741868|RGD:8554872 IAGP RGD:151349615 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001402 RGD:8554872 IAGP RGD:713754035 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0001528 PMID:25741868|PMID:31758406|PMID:35637064|PMID:36773198|PMID:38419707|RGD:8554872 IAGP RGD:713613342 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0002063 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0002066 PMID:25741868|PMID:31758406|PMID:35637064|PMID:36773198|PMID:38419707|RGD:8554872 IAGP RGD:713613342 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0002066 PMID:25741868|RGD:8554872 IAGP RGD:151349615 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0002080 PMID:25741868|RGD:8554872 IAGP RGD:151349615 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0002119 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0002151 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0002181 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0002194 PMID:25741868|RGD:8554872 IAGP RGD:150557077 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0002194 PMID:25741868|RGD:8554872 IAGP RGD:150557078 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0002196 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0002273 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0002283 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0002318 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0002352 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0002363 PMID:25741868|RGD:8554872 IAGP RGD:151349615 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0002376 MIM:617186|PMID:27122014|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0002376 PMID:25741868|RGD:8554872 IAGP RGD:151349615 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0002490 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0002650 PMID:25741868|RGD:8554872 IAGP RGD:150557077 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0002650 PMID:25741868|RGD:8554872 IAGP RGD:150557078 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0002814 PMID:25741868|PMID:31758406|PMID:35637064|PMID:36773198|PMID:38419707|RGD:8554872 IAGP RGD:713613342 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0002878 MIM:617186|PMID:27122014|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0002878 PMID:25741868|RGD:8554872 IAGP RGD:150557077 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0002878 PMID:25741868|RGD:8554872 IAGP RGD:150557078 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0003128 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0003593 MIM:617186|PMID:27122014|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0003678 MIM:617186|PMID:27122014|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0003819 MIM:617186|PMID:27122014|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0004463 PMID:25741868|RGD:8554872 IAGP RGD:151349615 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0006770 PMID:28492532|RGD:8554872 IAGP RGD:156136167 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0006770 RGD:8554872 IAGP RGD:714235658 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0006770 RGD:8554872 IAGP RGD:714235665 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0006897 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0010862 PMID:25741868|RGD:8554872 IAGP RGD:150557077 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0010862 PMID:25741868|RGD:8554872 IAGP RGD:150557078 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0011463 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0011922 MIM:617186|PMID:27122014|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0012378 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0012444 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0012486 PMID:25741868|RGD:8554872 IAGP RGD:150557077 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0012486 PMID:25741868|RGD:8554872 IAGP RGD:150557078 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0012706 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:329954566 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312295 NAXE HP:0012762 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0030915 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0032794 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0046507 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0200041 MIM:617186|PMID:27616477|RGD:8699517 IAGP H NAD(P)HX epimerase gene taxon:9606 20250912 HPO RGD 1312295 NAXE HP:0200134 PMID:25741868|PMID:31758406|PMID:35637064|PMID:36773198|PMID:38419707|RGD:8554872 IAGP RGD:713613342 H NAD(P)HX epimerase gene taxon:9606 20260519 ClinVar RGD 1312297 NDST2 HP:0100522 RGD:8554872 IAGP RGD:713373495 H N-deacetylase and N-sulfotransferase 2 gene taxon:9606 20260519 ClinVar RGD 1312305 RTRAF HP:0001402 RGD:8554872 IAGP RGD:713353586 H RNA transcription, translation and transport factor gene taxon:9606 20260519 ClinVar RGD 1312305 RTRAF HP:0001402 RGD:8554872 IAGP RGD:713353596 H RNA transcription, translation and transport factor gene taxon:9606 20260519 ClinVar RGD 1312305 RTRAF HP:0001402 RGD:8554872 IAGP RGD:714158643 H RNA transcription, translation and transport factor gene taxon:9606 20260519 ClinVar RGD 1312305 RTRAF HP:0002861 RGD:8554872 IAGP RGD:714213025 H RNA transcription, translation and transport factor gene taxon:9606 20260519 ClinVar RGD 1312305 RTRAF HP:0012126 RGD:8554872 IAGP RGD:713956035 H RNA transcription, translation and transport factor gene taxon:9606 20260519 ClinVar RGD 1312305 RTRAF HP:0012126 RGD:8554872 IAGP RGD:713956039 H RNA transcription, translation and transport factor gene taxon:9606 20260519 ClinVar RGD 1312305 RTRAF HP:0100526 RGD:8554872 IAGP RGD:714213015 H RNA transcription, translation and transport factor gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0000007 MIM:200150|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0000496 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0000514 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0000643 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0000707 PMID:12404112|PMID:16199547|PMID:21598378|PMID:25741868|PMID:28492532|PMID:31543803|RGD:8554872 IAGP RGD:12906246 H vacuolar protein sorting 13 homolog A gene taxon:9606 20240319 ClinVar RGD 1312307 VPS13A HP:0000707 PMID:12404112|PMID:17673232|PMID:21598378|PMID:21951684|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12742196 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:401940357 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:408394037 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0000708 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0000708 PMID:25741868|RGD:8554872 IAGP RGD:401855583 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0000708 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0000709 MIM:200150|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0000712 MIM:200150|ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0000716 MIM:200150|ORPHA:2388|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0000718 MIM:200150|ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0000719 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20260209 HPO RGD 1312307 VPS13A HP:0000722 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0000726 MIM:200150|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0000734 MIM:200150|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0000736 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0000737 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0000739 MIM:200150|ORPHA:2388|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0000741 MIM:200150|ORPHA:2388|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0000751 MIM:200150|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0000752 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0000763 MIM:200150|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0001188 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001250 MIM:200150|ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:25321560 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:401855583 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001252 MIM:200150|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0001260 MIM:200150|ORPHA:2388|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0001260 PMID:12404112|PMID:21598378|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26893870 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001260 PMID:25741868|PMID:38519717|RGD:8554872 IAGP RGD:405002857 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001265 MIM:200150|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0001268 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0001268 PMID:25741868|RGD:8554872 IAGP RGD:598232621 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001268 PMID:25741868|RGD:8554872 IAGP RGD:598232627 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001276 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0001284 MIM:200150|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0001284 PMID:25741868|PMID:38519717|RGD:8554872 IAGP RGD:405002857 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001288 PMID:12404112|PMID:21598378|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26893870 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001288 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001290 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13592850 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001300 MIM:200150|ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0001300 PMID:25741868|RGD:8554872 IAGP RGD:405002873 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001300 PMID:25741868|RGD:8554872 IAGP RGD:405002880 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001308 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001315 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0001332 MIM:200150|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0001337 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001350 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0001369 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0001385 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13592850 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001402 RGD:8554872 IAGP RGD:150405201 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001402 RGD:8554872 IAGP RGD:713775782 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001402 RGD:8554872 IAGP RGD:714089111 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001402 RGD:8554872 IAGP RGD:714089121 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001644 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0001744 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0001761 MIM:200150|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0001787 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13592850 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001824 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0001927 MIM:200150|ORPHA:2388|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0001927 PMID:25741868|PMID:38519717|RGD:8554872 IAGP RGD:405002857 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001927 PMID:25741868|PMID:38519717|RGD:8554872 IAGP RGD:405002867 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001927 PMID:25741868|RGD:8554872 IAGP RGD:25321560 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001927 PMID:25741868|RGD:8554872 IAGP RGD:401855583 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0001927 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002015 MIM:200150|ORPHA:2388|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0002015 PMID:25741868|PMID:38519717|RGD:8554872 IAGP RGD:405002857 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:401855583 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002067 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0002069 MIM:200150|ORPHA:2388|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0002072 MIM:200150|ORPHA:2388|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0002072 PMID:12404112|PMID:15824261|PMID:21598378|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26916531 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002072 PMID:25741868|PMID:38519717|RGD:8554872 IAGP RGD:405002857 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002072 PMID:25741868|PMID:38519717|RGD:8554872 IAGP RGD:405002867 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002072 PMID:25741868|RGD:8554872 IAGP RGD:25321560 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002072 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002120 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0002240 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0002307 MIM:200150|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0002307 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002310 MIM:200150|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0002311 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250904 HPO RGD 1312307 VPS13A HP:0002322 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0002340 MIM:200150|ORPHA:2388|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0002340 PMID:25741868|PMID:38519717|RGD:8554872 IAGP RGD:405002857 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002340 PMID:25741868|PMID:38519717|RGD:8554872 IAGP RGD:405002867 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002344 PMID:12404112|PMID:21598378|PMID:25741868|PMID:28492532|PMID:35926480|RGD:8554872 IAGP RGD:127233622 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002360 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0002378 PMID:25741868|RGD:8554872 IAGP RGD:152981162 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002396 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002451 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0002460 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0002487 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0002495 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0002505 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0002527 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0002599 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0002652 PMID:11381253|PMID:12404112|PMID:21598378|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8558215 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002861 RGD:8554872 IAGP RGD:713768629 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0002861 RGD:8554872 IAGP RGD:713768989 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0003110 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13592850 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0003198 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0003198 PMID:25741868|RGD:8554872 IAGP RGD:401855583 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0003202 MIM:200150|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0003236 MIM:200150|ORPHA:2388|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0003380 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0003438 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0003445 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0003477 MIM:200150|ORPHA:2388|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0003596 MIM:200150|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0003613 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0003676 MIM:200150|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0003676 PMID:25741868|PMID:38519717|RGD:8554872 IAGP RGD:405002857 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0003676 PMID:25741868|PMID:38519717|RGD:8554872 IAGP RGD:405002867 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0003690 MIM:200150|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0003693 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0003763 MIM:200150|ORPHA:2388|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0004302 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0004305 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0004808 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11609347 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0004808 RGD:8554872 IAGP RGD:150416848 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0004808 RGD:8554872 IAGP RGD:150444265 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0004808 RGD:8554872 IAGP RGD:713775797 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0004808 RGD:8554872 IAGP RGD:714260102 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0004808 RGD:8554872 IAGP RGD:714261886 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0004808 RGD:8554872 IAGP RGD:714261892 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0005526 PMID:25741868|RGD:8554872 IAGP RGD:152981162 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0005978 PMID:12404112|PMID:21598378|PMID:25741868|PMID:28492532|PMID:35926480|RGD:8554872 IAGP RGD:127233622 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0006725 RGD:8554872 IAGP RGD:713768760 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0006770 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11604332 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0006770 RGD:8554872 IAGP RGD:713768814 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0006770 RGD:8554872 IAGP RGD:713768829 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0006770 RGD:8554872 IAGP RGD:713768876 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0006770 RGD:8554872 IAGP RGD:713768892 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0006770 RGD:8554872 IAGP RGD:713769036 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0006770 RGD:8554872 IAGP RGD:713769058 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0006913 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0006956 MIM:200150|ORPHA:2388|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0006986 PMID:25741868|RGD:8554872 IAGP RGD:25321560 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0007078 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0007326 MIM:200150|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0007326 PMID:12404112|PMID:21598378|PMID:25741868|PMID:28492532|PMID:32131761|RGD:8554872 IAGP RGD:21405274 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0008110 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0008767 MIM:200150|ORPHA:2388|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0009049 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0009088 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0010674 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13592850 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0010808 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0010862 PMID:25741868|RGD:8554872 IAGP RGD:152981162 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0011462 MIM:200150|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0011804 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13592850 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0011968 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13592850 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0011999 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0012048 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0012049 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0012126 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11602783 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0012126 PMID:28492532|RGD:8554872 IAGP RGD:150417720 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0012126 RGD:8554872 IAGP RGD:150444265 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0012126 RGD:8554872 IAGP RGD:713728597 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0012126 RGD:8554872 IAGP RGD:713728654 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0012126 RGD:8554872 IAGP RGD:713984036 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0012126 RGD:8554872 IAGP RGD:713984045 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0012126 RGD:8554872 IAGP RGD:713984083 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0012167 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0012168 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0012332 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0012479 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0012675 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0012697 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0025100 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0025331 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0025402 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0025435 MIM:200150|ORPHA:2388|PMID:28446873|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250912 HPO RGD 1312307 VPS13A HP:0025479 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0025517 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0030051 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0030153 PMID:28492532|RGD:8554872 IAGP RGD:11600245 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0030153 RGD:8554872 IAGP RGD:150484117 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0030153 RGD:8554872 IAGP RGD:713775797 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0030272 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0031008 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0031008 PMID:12404112|PMID:21598378|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26893870 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0031211 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0031843 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0031843 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0031908 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0031956 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0031964 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0031982 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0040272 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0100021 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13592850 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0100022 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13592850 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0100022 PMID:25741868|RGD:8554872 IAGP RGD:401855583 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0100033 MIM:200150|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0100033 PMID:25741868|PMID:38519717|RGD:8554872 IAGP RGD:405002867 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0100034 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0100035 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0100242 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11602783 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0100242 RGD:8554872 IAGP RGD:713768966 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0100295 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0100522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11609347 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0100522 RGD:8554872 IAGP RGD:713768659 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0100526 PMID:26467025|RGD:8554872 IAGP RGD:13802674 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0100526 RGD:8554872 IAGP RGD:150484117 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0100526 RGD:8554872 IAGP RGD:713768907 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0100543 PMID:25741868|RGD:8554872 IAGP RGD:401855583 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0100615 RGD:8554872 IAGP RGD:713768709 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0100615 RGD:8554872 IAGP RGD:713815546 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312307 VPS13A HP:0100716 ORPHA:2388|RGD:8699517 IAGP H vacuolar protein sorting 13 homolog A gene taxon:9606 20250807 HPO RGD 1312307 VPS13A HP:0410280 PMID:25741868|RGD:8554872 IAGP RGD:401919928 H vacuolar protein sorting 13 homolog A gene taxon:9606 20260519 ClinVar RGD 1312309 LRFN1 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:150444824 H leucine rich repeat and fibronectin type III domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1312309 LRFN1 HP:0000817 PMID:25741868|RGD:8554872 IAGP RGD:150444824 H leucine rich repeat and fibronectin type III domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1312309 LRFN1 HP:0002098 PMID:25741868|RGD:8554872 IAGP RGD:150444824 H leucine rich repeat and fibronectin type III domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1312309 LRFN1 HP:0012760 PMID:25741868|RGD:8554872 IAGP RGD:150444824 H leucine rich repeat and fibronectin type III domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1312309 LRFN1 HP:0100023 PMID:25741868|RGD:8554872 IAGP RGD:150444824 H leucine rich repeat and fibronectin type III domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1312311 DAPK2 HP:0012126 RGD:8554872 IAGP RGD:713959291 H death associated protein kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312311 DAPK2 HP:0012126 RGD:8554872 IAGP RGD:713959305 H death associated protein kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312311 DAPK2 HP:0100522 RGD:8554872 IAGP RGD:713760258 H death associated protein kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312311 DAPK2 HP:0100526 RGD:8554872 IAGP RGD:713760322 H death associated protein kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312311 DAPK2 HP:0100526 RGD:8554872 IAGP RGD:713959291 H death associated protein kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312313 CA8 HP:0000007 MIM:613227|PMID:19461874|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20250912 HPO RGD 1312313 CA8 HP:0000252 RGD:8554872 IAGP RGD:13796281 H carbonic anhydrase 8 (inactive) gene taxon:9606 20260519 ClinVar RGD 1312313 CA8 HP:0000478 ORPHA:1766|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20230821 HPO RGD 1312313 CA8 HP:0000486 MIM:613227|ORPHA:1766|PMID:19461874|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20250912 HPO RGD 1312313 CA8 HP:0000504 ORPHA:1766|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20230821 HPO RGD 1312313 CA8 HP:0000518 ORPHA:1766|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20230821 HPO RGD 1312313 CA8 HP:0001249 ORPHA:1766|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20230821 HPO RGD 1312313 CA8 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:598122809 H carbonic anhydrase 8 (inactive) gene taxon:9606 20260519 ClinVar RGD 1312313 CA8 HP:0001250 ORPHA:1766|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20230821 HPO RGD 1312313 CA8 HP:0001251 MIM:613227|ORPHA:1766|PMID:19461874|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20250912 HPO RGD 1312313 CA8 HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:13542082 H carbonic anhydrase 8 (inactive) gene taxon:9606 20260519 ClinVar RGD 1312313 CA8 HP:0001252 ORPHA:1766|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20230821 HPO RGD 1312313 CA8 HP:0001256 MIM:613227|PMID:19461874|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20260209 HPO RGD 1312313 CA8 HP:0001260 MIM:613227|PMID:19461874|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20250912 HPO RGD 1312313 CA8 HP:0001263 RGD:8554872 IAGP RGD:13796281 H carbonic anhydrase 8 (inactive) gene taxon:9606 20260519 ClinVar RGD 1312313 CA8 HP:0001272 RGD:8554872 IAGP RGD:13796281 H carbonic anhydrase 8 (inactive) gene taxon:9606 20260519 ClinVar RGD 1312313 CA8 HP:0001288 ORPHA:1766|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20230821 HPO RGD 1312313 CA8 HP:0001337 MIM:613227|PMID:19461874|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20250912 HPO RGD 1312313 CA8 HP:0001347 ORPHA:1766|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20230821 HPO RGD 1312313 CA8 HP:0001350 MIM:613227|PMID:19461874|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20250912 HPO RGD 1312313 CA8 HP:0001928 PMID:25741868|RGD:8554872 IAGP RGD:598122809 H carbonic anhydrase 8 (inactive) gene taxon:9606 20260519 ClinVar RGD 1312313 CA8 HP:0002073 RGD:8554872 IAGP RGD:13796281 H carbonic anhydrase 8 (inactive) gene taxon:9606 20260519 ClinVar RGD 1312313 CA8 HP:0002110 PMID:25741868|RGD:8554872 IAGP RGD:598122809 H carbonic anhydrase 8 (inactive) gene taxon:9606 20260519 ClinVar RGD 1312313 CA8 HP:0002665 RGD:8554872 IAGP RGD:714138174 H carbonic anhydrase 8 (inactive) gene taxon:9606 20260519 ClinVar RGD 1312313 CA8 HP:0003202 ORPHA:1766|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20230821 HPO RGD 1312313 CA8 HP:0003577 MIM:613227|PMID:19461874|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20250912 HPO RGD 1312313 CA8 HP:0004322 ORPHA:1766|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20230821 HPO RGD 1312313 CA8 HP:0004808 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13828940 H carbonic anhydrase 8 (inactive) gene taxon:9606 20260519 ClinVar RGD 1312313 CA8 HP:0004808 RGD:8554872 IAGP RGD:713501266 H carbonic anhydrase 8 (inactive) gene taxon:9606 20260519 ClinVar RGD 1312313 CA8 HP:0009878 MIM:613227|PMID:19461874|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20250912 HPO RGD 1312313 CA8 HP:0012126 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10403633 H carbonic anhydrase 8 (inactive) gene taxon:9606 20260519 ClinVar RGD 1312313 CA8 HP:0030153 PMID:25741868|RGD:8554872 IAGP RGD:150503694 H carbonic anhydrase 8 (inactive) gene taxon:9606 20260519 ClinVar RGD 1312313 CA8 HP:0100021 ORPHA:1766|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20230821 HPO RGD 1312313 CA8 HP:0100022 ORPHA:1766|RGD:8699517 IAGP H carbonic anhydrase 8 (inactive) gene taxon:9606 20230821 HPO RGD 1312313 CA8 HP:0100242 PMID:25741868|RGD:8554872 IAGP RGD:150503694 H carbonic anhydrase 8 (inactive) gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000006 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000098 PMID:25741868|RGD:8554872 IAGP RGD:243062586 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000122 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000219 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000256 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000256 RGD:8554872 IAGP RGD:405745284 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000276 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000278 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000286 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000286 PMID:25741868|RGD:8554872 IAGP RGD:243062586 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000316 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000358 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000369 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000378 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000396 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000411 RGD:8554872 IAGP RGD:150338462 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000455 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000506 PMID:25741868|RGD:8554872 IAGP RGD:243062586 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000508 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000520 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000527 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000664 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000708 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151737169 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000717 PMID:28492532|RGD:8554872 IAGP RGD:151663369 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000717 RGD:8554872 IAGP RGD:150338462 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000717 RGD:8554872 IAGP RGD:150453071 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:156435236 H ASXL transcriptional regulator 2 gene taxon:9606 20230307 ClinVar RGD 1312315 ASXL2 HP:0000736 RGD:8554872 IAGP RGD:405745284 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000750 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000750 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151737169 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000750 RGD:8554872 IAGP RGD:150338462 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000750 RGD:8554872 IAGP RGD:151663626 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000750 RGD:8554872 IAGP RGD:405745284 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000752 RGD:8554872 IAGP RGD:405745284 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000939 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0000956 RGD:8554872 IAGP RGD:151663626 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000957 RGD:8554872 IAGP RGD:150338462 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0000998 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0001249 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0001249 PMID:25741868|PMID:27693232|RGD:8554872 IAGP RGD:713805812 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001249 PMID:25741868|PMID:27693232|RGD:8554872 IAGP RGD:736707295 H ASXL transcriptional regulator 2 gene taxon:9606 20260707 ClinVar RGD 1312315 ASXL2 HP:0001249 RGD:8554872 IAGP RGD:150338462 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001249 RGD:8554872 IAGP RGD:150453071 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001249 RGD:8554872 IAGP RGD:151663626 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001249 RGD:8554872 IAGP RGD:405745284 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001250 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:408393519 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001250 RGD:8554872 IAGP RGD:150453071 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001250 RGD:8554872 IAGP RGD:151663626 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001250 RGD:8554872 IAGP RGD:405745284 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001252 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0001252 PMID:25741868|PMID:27693232|RGD:8554872 IAGP RGD:736707295 H ASXL transcriptional regulator 2 gene taxon:9606 20260707 ClinVar RGD 1312315 ASXL2 HP:0001252 RGD:8554872 IAGP RGD:151663626 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001263 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0001263 PMID:25741868|PMID:27693232|RGD:8554872 IAGP RGD:736707295 H ASXL transcriptional regulator 2 gene taxon:9606 20260707 ClinVar RGD 1312315 ASXL2 HP:0001263 PMID:28492532|RGD:8554872 IAGP RGD:151663369 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001270 RGD:8554872 IAGP RGD:151663626 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001317 PMID:25741868|RGD:8554872 IAGP RGD:127274528 H ASXL transcriptional regulator 2 gene taxon:9606 20210608 ClinVar RGD 1312315 ASXL2 HP:0001344 PMID:28492532|RGD:8554872 IAGP RGD:151663369 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001382 PMID:25741868|RGD:8554872 IAGP RGD:243062586 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:401903219 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001511 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0001631 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0001643 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0001787 PMID:27693232|RGD:8554872 IAGP RGD:11567757 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001873 PMID:25741868|RGD:8554872 IAGP RGD:401903219 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0001943 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0001999 PMID:25741868|PMID:27693232|RGD:8554872 IAGP RGD:736707295 H ASXL transcriptional regulator 2 gene taxon:9606 20260707 ClinVar RGD 1312315 ASXL2 HP:0002057 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0002119 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0002136 RGD:8554872 IAGP RGD:150453071 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0002167 RGD:8554872 IAGP RGD:405745284 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0002311 RGD:8554872 IAGP RGD:151663626 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0002344 PMID:25741868|PMID:27693232|RGD:8554872 IAGP RGD:713805812 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0002373 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0002465 RGD:8554872 IAGP RGD:405745284 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0002509 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0002553 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0002650 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0002664 PMID:25741868|PMID:27693232|PMID:28516957|PMID:30251205|PMID:35101336|RGD:8554872 IAGP RGD:596926296 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0002808 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0002967 PMID:25741868|RGD:8554872 IAGP RGD:243062586 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0003577 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0004209 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151737169 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0004602 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0004808 RGD:8554872 IAGP RGD:713794018 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0004808 RGD:8554872 IAGP RGD:714039722 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0005616 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0006191 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0006770 RGD:8554872 IAGP RGD:713756460 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0007018 RGD:8554872 IAGP RGD:405745284 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0007413 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0008872 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0009123 RGD:8554872 IAGP RGD:151663626 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0010049 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0010535 RGD:8554872 IAGP RGD:150453071 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0010952 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0011446 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151737169 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0011446 RGD:8554872 IAGP RGD:405745284 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0011476 PMID:25741868|RGD:8554872 IAGP RGD:401903219 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0012126 RGD:8554872 IAGP RGD:713514057 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0012126 RGD:8554872 IAGP RGD:713927704 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0012520 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0012638 RGD:8554872 IAGP RGD:405745284 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0012758 RGD:8554872 IAGP RGD:405745284 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0012759 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151737169 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0012759 RGD:8554872 IAGP RGD:405745284 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0025104 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0025578 PMID:25741868|RGD:8554872 IAGP RGD:243062586 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0030051 PMID:28492532|RGD:8554872 IAGP RGD:151663369 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0030153 RGD:8554872 IAGP RGD:713756568 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0034295 MIM:617190|PMID:27693232|RGD:8699517 IAGP H ASXL transcriptional regulator 2 gene taxon:9606 20250912 HPO RGD 1312315 ASXL2 HP:0040194 RGD:8554872 IAGP RGD:405745284 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0100242 RGD:8554872 IAGP RGD:713514078 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0100526 RGD:8554872 IAGP RGD:713756535 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0100543 PMID:25741868|RGD:8554872 IAGP RGD:408393519 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312315 ASXL2 HP:0100543 RGD:8554872 IAGP RGD:405745284 H ASXL transcriptional regulator 2 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0000006 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000010 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000020 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000028 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000062 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000083 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000107 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000119 RGD:8554872 IAGP RGD:405690132 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0000126 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000154 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000154 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0000212 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0000219 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000232 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0000252 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000252 RGD:8554872 IAGP RGD:405690119 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0000256 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000256 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0000276 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000325 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000338 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000348 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000348 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0000369 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000431 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000445 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000455 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0000483 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000486 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000494 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000527 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000540 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000565 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000570 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000577 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000577 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0000639 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000664 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000687 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000689 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000696 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0000716 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000717 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000718 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000729 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000733 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000739 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000750 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:408394512 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0000790 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000817 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000821 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0000953 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0001249 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001249 RGD:8554872 IAGP RGD:401798228 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001249 RGD:8554872 IAGP RGD:401828053 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001249 RGD:8554872 IAGP RGD:401905154 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001249 RGD:8554872 IAGP RGD:405689914 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001249 RGD:8554872 IAGP RGD:405690119 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001250 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001250 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0001250 RGD:8554872 IAGP RGD:401798228 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001250 RGD:8554872 IAGP RGD:405689914 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001250 RGD:8554872 IAGP RGD:405690144 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001250 RGD:8554872 IAGP RGD:405690147 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001252 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001252 RGD:8554872 IAGP RGD:401798226 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001260 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001263 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001263 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:408394512 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001263 RGD:8554872 IAGP RGD:401828053 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001263 RGD:8554872 IAGP RGD:401905154 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001263 RGD:8554872 IAGP RGD:405689914 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001263 RGD:8554872 IAGP RGD:405690119 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001263 RGD:8554872 IAGP RGD:405690144 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001263 RGD:8554872 IAGP RGD:405690147 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001266 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001276 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001290 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0001332 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001336 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001337 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001337 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0001344 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001347 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001357 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001382 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:408394512 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0001518 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001572 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001622 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001762 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001837 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0001852 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001882 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001883 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001992 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0001999 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0002015 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0002019 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0002020 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0002020 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0002036 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0002066 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0002078 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0002090 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0002098 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0002119 RGD:8554872 IAGP RGD:401798227 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0002121 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0002136 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0002151 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0002212 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0002307 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0002307 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0002344 RGD:8554872 IAGP RGD:401798226 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0002353 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0002353 RGD:8554872 IAGP RGD:401798226 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0002536 RGD:8554872 IAGP RGD:401798227 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0002540 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0002643 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0002650 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0002861 RGD:8554872 IAGP RGD:713857929 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0002878 RGD:8554872 IAGP RGD:401798226 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0003003 RGD:8554872 IAGP RGD:713795384 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0003083 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0003112 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0003202 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0003273 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0003429 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0003542 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0003577 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0004209 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0004322 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0004325 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0004325 PMID:25741868|RGD:8554872 IAGP RGD:408394512 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0004808 RGD:8554872 IAGP RGD:713823797 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0005274 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0006770 RGD:8554872 IAGP RGD:713765263 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0006770 RGD:8554872 IAGP RGD:713795384 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0007018 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0007481 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0007716 RGD:8554872 IAGP RGD:713795384 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0007874 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0008003 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0010450 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0010477 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0010819 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0010864 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0011220 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0011220 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0011229 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0011343 PMID:25741868|RGD:8554872 IAGP RGD:408394512 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0011344 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0011463 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0011873 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0011968 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0012071 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0012126 RGD:8554872 IAGP RGD:713765245 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0012450 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:401723219 H PPFI scaffold protein A3 gene taxon:9606 20230808 ClinVar RGD 1312318 PPFIA3 HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:401723223 H PPFI scaffold protein A3 gene taxon:9606 20230808 ClinVar RGD 1312318 PPFIA3 HP:0012758 RGD:8554872 IAGP RGD:401798228 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0012810 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312318 PPFIA3 HP:0025335 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0025336 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0030084 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0030359 RGD:8554872 IAGP RGD:713828785 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0031936 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0032615 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0033725 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0034295 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0034665 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0040129 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0040131 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0100242 RGD:8554872 IAGP RGD:713823797 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0100248 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0100522 RGD:8554872 IAGP RGD:713795384 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0100522 RGD:8554872 IAGP RGD:713857909 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0100522 RGD:8554872 IAGP RGD:713858066 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0100522 RGD:8554872 IAGP RGD:713858082 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0100526 RGD:8554872 IAGP RGD:713857971 H PPFI scaffold protein A3 gene taxon:9606 20260519 ClinVar RGD 1312318 PPFIA3 HP:0100595 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0100633 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0100716 MIM:621122|PMID:38181735|RGD:8699517 IAGP H PPFI scaffold protein A3 gene taxon:9606 20251023 HPO RGD 1312318 PPFIA3 HP:0200136 PMID:25741868|PMID:35982160|RGD:8554872 IAGP RGD:156436085 H PPFI scaffold protein A3 gene taxon:9606 20260707 ClinVar RGD 1312320 ERAL1 HP:0000007 MIM:617565|PMID:28449065|RGD:8699517 IAGP H Era like 12S mitochondrial rRNA chaperone 1 gene taxon:9606 20250912 HPO RGD 1312320 ERAL1 HP:0000013 MIM:617565|PMID:28449065|RGD:8699517 IAGP H Era like 12S mitochondrial rRNA chaperone 1 gene taxon:9606 20250912 HPO RGD 1312320 ERAL1 HP:0000365 RGD:8554872 IAGP RGD:152033188 H Era like 12S mitochondrial rRNA chaperone 1 gene taxon:9606 20250729 ClinVar RGD 1312320 ERAL1 HP:0000407 MIM:617565|PMID:28449065|RGD:8699517 IAGP H Era like 12S mitochondrial rRNA chaperone 1 gene taxon:9606 20250912 HPO RGD 1312320 ERAL1 HP:0000786 MIM:617565|PMID:28449065|RGD:8699517 IAGP H Era like 12S mitochondrial rRNA chaperone 1 gene taxon:9606 20250912 HPO RGD 1312320 ERAL1 HP:0000858 MIM:617565|PMID:28449065|RGD:8699517 IAGP H Era like 12S mitochondrial rRNA chaperone 1 gene taxon:9606 20250912 HPO RGD 1312320 ERAL1 HP:0000869 MIM:617565|PMID:28449065|RGD:8699517 IAGP H Era like 12S mitochondrial rRNA chaperone 1 gene taxon:9606 20250912 HPO RGD 1312320 ERAL1 HP:0006770 RGD:8554872 IAGP RGD:714173019 H Era like 12S mitochondrial rRNA chaperone 1 gene taxon:9606 20260519 ClinVar RGD 1312320 ERAL1 HP:0008209 MIM:617565|PMID:28449065|RGD:8699517 IAGP H Era like 12S mitochondrial rRNA chaperone 1 gene taxon:9606 20250912 HPO RGD 1312320 ERAL1 HP:0010464 MIM:617565|PMID:28449065|RGD:8699517 IAGP H Era like 12S mitochondrial rRNA chaperone 1 gene taxon:9606 20250912 HPO RGD 1312320 ERAL1 HP:0100526 RGD:8554872 IAGP RGD:714173023 H Era like 12S mitochondrial rRNA chaperone 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0000007 MIM:616127|PMID:25361784|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0000486 MIM:616127|PMID:26197978|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0000574 MIM:616127|PMID:27016154|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0000657 MIM:616127|ORPHA:453521|PMID:26197978|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0000664 MIM:616127|ORPHA:453521|PMID:27016154|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0000666 ORPHA:453521|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20230821 HPO RGD 1312323 CWF19L1 HP:0000750 MIM:616127|ORPHA:453521|PMID:27016154|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0001249 MIM:616127|PMID:25361784|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0001249 RGD:8554872 IAGP RGD:42722691 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0001249 RGD:8554872 IAGP RGD:42723310 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260602 ClinVar RGD 1312323 CWF19L1 HP:0001251 MIM:616127|PMID:27016154|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:401830174 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0001251 RGD:8554872 IAGP RGD:42722691 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0001252 MIM:616127|PMID:25361784|PMID:26197978|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0001256 MIM:616127|PMID:27016154|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20260209 HPO RGD 1312323 CWF19L1 HP:0001260 MIM:616127|ORPHA:453521|PMID:15981765|PMID:26197978|PMID:27016154|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0001260 RGD:8554872 IAGP RGD:42722691 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0001263 MIM:616127|ORPHA:453521|PMID:25361784|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0001272 MIM:616127|PMID:27016154|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0001272 RGD:8554872 IAGP RGD:42722691 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0001274 ORPHA:453521|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20230821 HPO RGD 1312323 CWF19L1 HP:0001310 MIM:616127|ORPHA:453521|PMID:15981765|PMID:26197978|PMID:27016154|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0001310 RGD:8554872 IAGP RGD:42722691 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0001320 MIM:616127|ORPHA:453521|PMID:25361784|PMID:26197978|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0001321 MIM:616127|PMID:25361784|PMID:26197978|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0001332 MIM:616127|ORPHA:453521|PMID:26197978|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0001347 MIM:616127|PMID:15981765|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0001350 ORPHA:453521|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20230821 HPO RGD 1312323 CWF19L1 HP:0001402 RGD:8554872 IAGP RGD:714089468 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0002066 MIM:616127|ORPHA:453521|PMID:27016154|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0002070 MIM:616127|PMID:25361784|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0002078 MIM:616127|ORPHA:453521|PMID:25361784|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0002078 PMID:25741868|RGD:8554872 IAGP RGD:401830175 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0002080 MIM:616127|ORPHA:453521|PMID:26197978|PMID:27016154|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0002136 MIM:616127|PMID:26197978|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0002312 MIM:616127|ORPHA:453521|PMID:26197978|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0002317 MIM:616127|ORPHA:453521|PMID:15981765|PMID:27016154|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0002342 ORPHA:453521|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20230821 HPO RGD 1312323 CWF19L1 HP:0002359 MIM:616127|ORPHA:453521|PMID:15981765|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0002470 ORPHA:453521|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20230821 HPO RGD 1312323 CWF19L1 HP:0003003 PMID:25741868|RGD:8554872 IAGP RGD:8659402 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0003388 MIM:616127|PMID:26197978|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0003487 ORPHA:453521|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20230821 HPO RGD 1312323 CWF19L1 HP:0003577 MIM:616127|PMID:15981765|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0003593 MIM:616127|PMID:27016154|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0003677 MIM:616127|PMID:27016154|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0004808 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15159868 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0004808 RGD:8554872 IAGP RGD:713776775 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0007716 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15159868 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0007716 PMID:25741868|RGD:8554872 IAGP RGD:8659402 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0008947 ORPHA:453521|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20230821 HPO RGD 1312323 CWF19L1 HP:0009617 ORPHA:453521|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20230821 HPO RGD 1312323 CWF19L1 HP:0011463 MIM:616127|PMID:26197978|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0012126 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15159868 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0012389 MIM:616127|PMID:15981765|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0030153 RGD:8554872 IAGP RGD:713776775 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0030966 RGD:8554872 IAGP RGD:42722691 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312323 CWF19L1 HP:0031435 ORPHA:453521|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20230821 HPO RGD 1312323 CWF19L1 HP:0040196 MIM:616127|ORPHA:453521|PMID:27016154|RGD:8699517 IAGP H CWF19 like cell cycle control factor 1 gene taxon:9606 20250912 HPO RGD 1312323 CWF19L1 HP:0100242 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15159868 H CWF19 like cell cycle control factor 1 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0000007 MIM:619061|PMID:25175347|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20250912 HPO RGD 1312327 COA8 HP:0000007 PMID:25741868|RGD:8554872 IAGP RGD:401874971 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0000093 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0000124 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0000508 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0000580 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0000648 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:151349793 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0000750 MIM:619061|ORPHA:436271|PMID:25175347|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20250912 HPO RGD 1312327 COA8 HP:0001249 MIM:619061|ORPHA:436271|PMID:25175347|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20250912 HPO RGD 1312327 COA8 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:151349793 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0001250 MIM:619061|ORPHA:436271|PMID:25175347|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20250912 HPO RGD 1312327 COA8 HP:0001250 PMID:25175347|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126725570 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0001251 MIM:619061|ORPHA:436271|PMID:25175347|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20250912 HPO RGD 1312327 COA8 HP:0001252 PMID:25175347|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126725570 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0001258 PMID:25175347|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126725570 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0001260 MIM:619061|PMID:25175347|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20250912 HPO RGD 1312327 COA8 HP:0001262 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0001263 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0001270 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0001285 MIM:619061|ORPHA:436271|PMID:25175347|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20250912 HPO RGD 1312327 COA8 HP:0001288 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0001290 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0001402 RGD:8554872 IAGP RGD:714158548 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0001410 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0001488 PMID:25741868|RGD:8554872 IAGP RGD:401874971 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0001508 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0001639 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0001903 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0001994 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0002013 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:401874971 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0002059 PMID:25175347|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126725570 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0002240 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0002353 PMID:25175347|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126725570 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0002376 MIM:619061|ORPHA:436271|PMID:25175347|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20250912 HPO RGD 1312327 COA8 HP:0002490 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0002747 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0002783 PMID:25175347|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126725570 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0002861 RGD:8554872 IAGP RGD:714201471 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0002861 RGD:8554872 IAGP RGD:714201482 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0002875 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0003076 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0003109 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0003128 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0003324 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0003355 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0003688 MIM:619061|PMID:25175347|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20250912 HPO RGD 1312327 COA8 HP:0003688 PMID:25741868|RGD:8554872 IAGP RGD:401874971 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0003690 PMID:25741868|RGD:8554872 IAGP RGD:401874971 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0004432 PMID:25175347|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126725570 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0004808 RGD:8554872 IAGP RGD:713661173 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0006555 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0006980 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0007133 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0007141 MIM:619061|PMID:25175347|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20250912 HPO RGD 1312327 COA8 HP:0007256 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0008347 MIM:619061|PMID:25175347|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20250912 HPO RGD 1312327 COA8 HP:0008619 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0011463 MIM:619061|PMID:25175347|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20250912 HPO RGD 1312327 COA8 HP:0012126 RGD:8554872 IAGP RGD:713987010 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0012126 RGD:8554872 IAGP RGD:713987023 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0030195 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0033369 MIM:619061|PMID:25175347|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20250912 HPO RGD 1312327 COA8 HP:0040291 ORPHA:436271|RGD:8699517 IAGP H cytochrome c oxidase assembly factor 8 gene taxon:9606 20230821 HPO RGD 1312327 COA8 HP:0100522 RGD:8554872 IAGP RGD:713807860 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0100526 RGD:8554872 IAGP RGD:713807860 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312327 COA8 HP:0100526 RGD:8554872 IAGP RGD:714201516 H cytochrome c oxidase assembly factor 8 gene taxon:9606 20260519 ClinVar RGD 1312328 IKZF4 HP:0002861 RGD:8554872 IAGP RGD:714059117 H IKAROS family zinc finger 4 gene taxon:9606 20260519 ClinVar RGD 1312331 CADM4 HP:0001402 RGD:8554872 IAGP RGD:713365166 H cell adhesion molecule 4 gene taxon:9606 20260519 ClinVar RGD 1312331 CADM4 HP:0006770 RGD:8554872 IAGP RGD:713397233 H cell adhesion molecule 4 gene taxon:9606 20260519 ClinVar RGD 1312331 CADM4 HP:0012126 RGD:8554872 IAGP RGD:714269132 H cell adhesion molecule 4 gene taxon:9606 20260519 ClinVar RGD 1312331 CADM4 HP:0100522 RGD:8554872 IAGP RGD:713397086 H cell adhesion molecule 4 gene taxon:9606 20260519 ClinVar RGD 1312331 CADM4 HP:0100526 RGD:8554872 IAGP RGD:713397128 H cell adhesion molecule 4 gene taxon:9606 20260519 ClinVar RGD 1312331 CADM4 HP:0100526 RGD:8554872 IAGP RGD:713397143 H cell adhesion molecule 4 gene taxon:9606 20260519 ClinVar RGD 1312331 CADM4 HP:0100526 RGD:8554872 IAGP RGD:713761435 H cell adhesion molecule 4 gene taxon:9606 20260519 ClinVar RGD 1312331 CADM4 HP:0100526 RGD:8554872 IAGP RGD:714269132 H cell adhesion molecule 4 gene taxon:9606 20260519 ClinVar RGD 1312345 STYX HP:0002861 RGD:8554872 IAGP RGD:713551727 H serine/threonine/tyrosine interacting protein gene taxon:9606 20260707 ClinVar RGD 1312345 STYX HP:0004808 RGD:8554872 IAGP RGD:714164654 H serine/threonine/tyrosine interacting protein gene taxon:9606 20260519 ClinVar RGD 1312345 STYX HP:0006770 RGD:8554872 IAGP RGD:713821751 H serine/threonine/tyrosine interacting protein gene taxon:9606 20260519 ClinVar RGD 1312345 STYX HP:0006770 RGD:8554872 IAGP RGD:713987233 H serine/threonine/tyrosine interacting protein gene taxon:9606 20260519 ClinVar RGD 1312345 STYX HP:0006770 RGD:8554872 IAGP RGD:714213433 H serine/threonine/tyrosine interacting protein gene taxon:9606 20260519 ClinVar RGD 1312345 STYX HP:0006770 RGD:8554872 IAGP RGD:714213439 H serine/threonine/tyrosine interacting protein gene taxon:9606 20260519 ClinVar RGD 1312345 STYX HP:0012126 RGD:8554872 IAGP RGD:713551727 H serine/threonine/tyrosine interacting protein gene taxon:9606 20260519 ClinVar RGD 1312345 STYX HP:0012126 RGD:8554872 IAGP RGD:713987222 H serine/threonine/tyrosine interacting protein gene taxon:9606 20260519 ClinVar RGD 1312345 STYX HP:0012126 RGD:8554872 IAGP RGD:713987233 H serine/threonine/tyrosine interacting protein gene taxon:9606 20260519 ClinVar RGD 1312345 STYX HP:0100242 RGD:8554872 IAGP RGD:714213417 H serine/threonine/tyrosine interacting protein gene taxon:9606 20260519 ClinVar RGD 1312345 STYX HP:0100242 RGD:8554872 IAGP RGD:714213446 H serine/threonine/tyrosine interacting protein gene taxon:9606 20260519 ClinVar RGD 1312345 STYX HP:0100522 RGD:8554872 IAGP RGD:713785557 H serine/threonine/tyrosine interacting protein gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0000252 PMID:25741868|PMID:39708813|RGD:8554872 IAGP RGD:598242922 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0001402 RGD:8554872 IAGP RGD:713351194 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0001402 RGD:8554872 IAGP RGD:714158160 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0001402 RGD:8554872 IAGP RGD:714158166 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0002121 PMID:25741868|PMID:39708813|RGD:8554872 IAGP RGD:598242922 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0004808 RGD:8554872 IAGP RGD:714041394 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0004808 RGD:8554872 IAGP RGD:714104342 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0006770 RGD:8554872 IAGP RGD:713684252 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0006889 PMID:25741868|PMID:39708813|RGD:8554872 IAGP RGD:598242922 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0011342 PMID:25741868|PMID:39708813|RGD:8554872 IAGP RGD:598242922 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0011797 RGD:8554872 IAGP RGD:714041386 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0011797 RGD:8554872 IAGP RGD:714046898 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0012126 RGD:8554872 IAGP RGD:405262127 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0012126 RGD:8554872 IAGP RGD:713985980 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0030153 RGD:8554872 IAGP RGD:714104336 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0030359 RGD:8554872 IAGP RGD:713684315 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0100242 RGD:8554872 IAGP RGD:713684282 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0100522 RGD:8554872 IAGP RGD:713684296 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0100522 RGD:8554872 IAGP RGD:713684373 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0100526 RGD:8554872 IAGP RGD:713684140 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0100526 RGD:8554872 IAGP RGD:713684163 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0100526 RGD:8554872 IAGP RGD:713684174 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0100526 RGD:8554872 IAGP RGD:713684232 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0100526 RGD:8554872 IAGP RGD:713684269 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312347 EP400 HP:0100526 RGD:8554872 IAGP RGD:713684335 H E1A binding protein p400 gene taxon:9606 20260519 ClinVar RGD 1312348 ELMO3 HP:0002861 RGD:8554872 IAGP RGD:713721483 H engulfment and cell motility 3 gene taxon:9606 20260519 ClinVar RGD 1312348 ELMO3 HP:0012126 RGD:8554872 IAGP RGD:401872785 H engulfment and cell motility 3 gene taxon:9606 20260707 ClinVar RGD 1312348 ELMO3 HP:0012126 RGD:8554872 IAGP RGD:714128730 H engulfment and cell motility 3 gene taxon:9606 20260519 ClinVar RGD 1312348 ELMO3 HP:0012126 RGD:8554872 IAGP RGD:714128755 H engulfment and cell motility 3 gene taxon:9606 20260519 ClinVar RGD 1312348 ELMO3 HP:0100526 RGD:8554872 IAGP RGD:713632349 H engulfment and cell motility 3 gene taxon:9606 20260519 ClinVar RGD 1312348 ELMO3 HP:0100526 RGD:8554872 IAGP RGD:713721508 H engulfment and cell motility 3 gene taxon:9606 20260519 ClinVar RGD 1312353 ZFR2 HP:0003003 RGD:8554872 IAGP RGD:714272804 H zinc finger RNA binding protein 2 gene taxon:9606 20260707 ClinVar RGD 1312353 ZFR2 HP:0006770 RGD:8554872 IAGP RGD:713364979 H zinc finger RNA binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312353 ZFR2 HP:0100242 RGD:8554872 IAGP RGD:713364670 H zinc finger RNA binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312353 ZFR2 HP:0100522 RGD:8554872 IAGP RGD:713364961 H zinc finger RNA binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312353 ZFR2 HP:0100526 RGD:8554872 IAGP RGD:713364924 H zinc finger RNA binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0000028 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000047 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000055 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000077 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000107 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000126 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000135 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000160 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000248 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000252 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000270 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000286 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000307 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000343 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000358 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20240815 HPO RGD 1312355 UBE4B HP:0000405 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000407 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000431 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000457 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000464 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000486 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000490 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000504 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000505 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000518 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000534 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000639 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000648 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000708 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000717 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000733 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000750 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000821 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000878 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000892 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0000902 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001009 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001107 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001156 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001249 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001250 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001252 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001263 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001274 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001288 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001344 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001385 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001387 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001392 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001397 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001402 RGD:8554872 IAGP RGD:713377041 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0001508 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001513 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001636 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001643 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001644 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001654 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001671 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001734 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001743 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001773 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0001829 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002007 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002015 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002019 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002020 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002021 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002119 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002120 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002167 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002230 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002242 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002353 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002465 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002591 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002650 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002665 RGD:8554872 IAGP RGD:713368722 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0002665 RGD:8554872 IAGP RGD:714204065 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0002715 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002808 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0002861 RGD:8554872 IAGP RGD:713718763 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0002861 RGD:8554872 IAGP RGD:713719075 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0002861 RGD:8554872 IAGP RGD:713721476 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0002861 RGD:8554872 IAGP RGD:713722602 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0003006 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0003198 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0003416 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0004209 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0004322 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0004374 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0004378 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0005113 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0005280 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0006770 RGD:8554872 IAGP RGD:713718020 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0006770 RGD:8554872 IAGP RGD:714228558 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0006824 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0008066 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0008499 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0008551 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0008736 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0008872 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0011228 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0011797 RGD:8554872 IAGP RGD:713405093 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0011800 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0012126 RGD:8554872 IAGP RGD:713617566 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0012733 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0030680 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0100242 RGD:8554872 IAGP RGD:713370102 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0100242 RGD:8554872 IAGP RGD:713419936 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0100242 RGD:8554872 IAGP RGD:713892992 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0100242 RGD:8554872 IAGP RGD:713907085 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0100242 RGD:8554872 IAGP RGD:714057531 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0100490 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0100526 RGD:8554872 IAGP RGD:714112377 H ubiquitination factor E4B gene taxon:9606 20260519 ClinVar RGD 1312355 UBE4B HP:0100559 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312355 UBE4B HP:0100716 ORPHA:1606|RGD:8699517 IAGP H ubiquitination factor E4B gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0000007 MIM:614678|PMID:22544365|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250912 HPO RGD 1312357 EXOSC3 HP:0000252 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0000253 MIM:614678|ORPHA:2254|PMID:22544365|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250912 HPO RGD 1312357 EXOSC3 HP:0000486 MIM:614678|ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250416 HPO RGD 1312357 EXOSC3 HP:0000529 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0000556 MIM:614678|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0000565 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0000639 MIM:614678|ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250416 HPO RGD 1312357 EXOSC3 HP:0000648 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0000657 MIM:614678|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0000707 PMID:18414213|PMID:23975261|PMID:24033266|PMID:25741868|PMID:25809939|PMID:28492532|PMID:34056100|RGD:8554872 IAGP RGD:8657552 H exosome component 3 gene taxon:9606 20260519 ClinVar RGD 1312357 EXOSC3 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:151236272 H exosome component 3 gene taxon:9606 20260519 ClinVar RGD 1312357 EXOSC3 HP:0001250 MIM:614678|ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250416 HPO RGD 1312357 EXOSC3 HP:0001251 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0001252 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0001252 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0001257 MIM:614678|ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250416 HPO RGD 1312357 EXOSC3 HP:0001263 MIM:614678|ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250416 HPO RGD 1312357 EXOSC3 HP:0001263 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0001265 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0001270 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0001272 MIM:614678|PMID:22544365|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250912 HPO RGD 1312357 EXOSC3 HP:0001290 MIM:614678|PMID:22544365|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250912 HPO RGD 1312357 EXOSC3 HP:0001290 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0001308 MIM:614678|ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250416 HPO RGD 1312357 EXOSC3 HP:0001308 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0001317 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0001321 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0001324 MIM:614678|ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250416 HPO RGD 1312357 EXOSC3 HP:0001339 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0001344 MIM:614678|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0001347 MIM:614678|ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250416 HPO RGD 1312357 EXOSC3 HP:0001357 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0001371 MIM:614678|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0001508 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0001510 MIM:614678|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0001760 MIM:614678|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0001787 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0001989 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0002059 MIM:614678|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0002093 MIM:614678|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0002120 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0002350 MIM:614678|ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250416 HPO RGD 1312357 EXOSC3 HP:0002398 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0002421 MIM:614678|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0002804 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0002827 MIM:614678|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0002878 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0003202 MIM:614678|ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250416 HPO RGD 1312357 EXOSC3 HP:0003477 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0003577 MIM:614678|PMID:22544365|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250912 HPO RGD 1312357 EXOSC3 HP:0004325 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0004886 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0006829 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0007277 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0007360 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0008846 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0008936 MIM:614678|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0008936 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0011410 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0011968 MIM:614678|ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20250416 HPO RGD 1312357 EXOSC3 HP:0012110 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0012110 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0012473 MIM:614678|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312357 EXOSC3 HP:0030363 PMID:22544365|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345|RGD:8554872 IAGP RGD:8602512 H exosome component 3 gene taxon:9606 20260707 ClinVar RGD 1312357 EXOSC3 HP:0033725 ORPHA:2254|RGD:8699517 IAGP H exosome component 3 gene taxon:9606 20230821 HPO RGD 1312360 PGBD2 HP:0004808 RGD:8554872 IAGP RGD:713560237 H piggyBac transposable element derived 2 gene taxon:9606 20260519 ClinVar RGD 1312360 PGBD2 HP:0006770 RGD:8554872 IAGP RGD:713564263 H piggyBac transposable element derived 2 gene taxon:9606 20260519 ClinVar RGD 1312360 PGBD2 HP:0012126 RGD:8554872 IAGP RGD:713958542 H piggyBac transposable element derived 2 gene taxon:9606 20260519 ClinVar RGD 1312360 PGBD2 HP:0012126 RGD:8554872 IAGP RGD:713958555 H piggyBac transposable element derived 2 gene taxon:9606 20260519 ClinVar RGD 1312360 PGBD2 HP:0030153 RGD:8554872 IAGP RGD:713958578 H piggyBac transposable element derived 2 gene taxon:9606 20260519 ClinVar RGD 1312361 RAB37 HP:0006770 RGD:8554872 IAGP RGD:713361426 H RAB37, member RAS oncogene family gene taxon:9606 20260519 ClinVar RGD 1312361 RAB37 HP:0012126 RGD:8554872 IAGP RGD:713934219 H RAB37, member RAS oncogene family gene taxon:9606 20260519 ClinVar RGD 1312361 RAB37 HP:0100242 RGD:8554872 IAGP RGD:713361437 H RAB37, member RAS oncogene family gene taxon:9606 20260519 ClinVar RGD 1312363 UST HP:0006770 RGD:8554872 IAGP RGD:713436243 H uronyl 2-sulfotransferase gene taxon:9606 20260519 ClinVar RGD 1312365 STX11 HP:0000007 MIM:603552|PMID:16582076|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0000407 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0000509 MIM:603552|PMID:16582076|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0000707 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0000952 MIM:603552|ORPHA:540|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0000967 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0000969 MIM:603552|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0000978 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0000979 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0000988 MIM:603552|ORPHA:540|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0001019 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0001250 MIM:603552|ORPHA:540|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0001252 MIM:603552|PMID:16582076|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0001259 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0001263 MIM:603552|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0001410 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0001744 MIM:603552|ORPHA:540|PMID:16582076|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0001873 MIM:603552|ORPHA:540|PMID:16582076|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0001875 MIM:603552|ORPHA:540|PMID:16582076|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0001903 MIM:603552|ORPHA:540|PMID:16582076|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0001945 MIM:603552|ORPHA:540|PMID:16582076|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0001954 MIM:603552|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0002086 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0002155 MIM:603552|ORPHA:540|PMID:16582076|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0002240 MIM:603552|ORPHA:540|PMID:16582076|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0002383 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0002500 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0002583 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0002611 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0002716 MIM:603552|ORPHA:540|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0002910 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0002958 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0003073 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0003256 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0003281 MIM:603552|ORPHA:540|PMID:16582076|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0003593 MIM:603552|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0004302 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0004313 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0004808 RGD:8554872 IAGP RGD:713434318 H syntaxin 11 gene taxon:9606 20260519 ClinVar RGD 1312365 STX11 HP:0006770 RGD:8554872 IAGP RGD:713712008 H syntaxin 11 gene taxon:9606 20260519 ClinVar RGD 1312365 STX11 HP:0009830 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0011112 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0011118 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0011121 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0011463 MIM:603552|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0011900 MIM:603552|ORPHA:540|PMID:16582076|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0012145 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0012156 MIM:603552|ORPHA:540|PMID:16582076|PMID:18710388|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250912 HPO RGD 1312365 STX11 HP:0012177 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20250508 HPO RGD 1312365 STX11 HP:0012211 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0012229 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0030356 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0030783 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0031364 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312365 STX11 HP:0040186 ORPHA:540|RGD:8699517 IAGP H syntaxin 11 gene taxon:9606 20230821 HPO RGD 1312368 MBD2 HP:0004808 RGD:8554872 IAGP RGD:714265052 H methyl-CpG binding domain protein 2 gene taxon:9606 20260519 ClinVar RGD 1312368 MBD2 HP:0006770 RGD:8554872 IAGP RGD:713751523 H methyl-CpG binding domain protein 2 gene taxon:9606 20260519 ClinVar RGD 1312368 MBD2 HP:0030153 RGD:8554872 IAGP RGD:713751509 H methyl-CpG binding domain protein 2 gene taxon:9606 20260519 ClinVar RGD 1312368 MBD2 HP:0100522 RGD:8554872 IAGP RGD:713751486 H methyl-CpG binding domain protein 2 gene taxon:9606 20260519 ClinVar RGD 1312368 MBD2 HP:0100526 RGD:8554872 IAGP RGD:713751536 H methyl-CpG binding domain protein 2 gene taxon:9606 20260519 ClinVar RGD 1312370 ADCY9 HP:0006770 RGD:8554872 IAGP RGD:713702313 H adenylate cyclase 9 gene taxon:9606 20260519 ClinVar RGD 1312370 ADCY9 HP:0012126 RGD:8554872 IAGP RGD:714124893 H adenylate cyclase 9 gene taxon:9606 20260519 ClinVar RGD 1312370 ADCY9 HP:0012126 RGD:8554872 IAGP RGD:714124908 H adenylate cyclase 9 gene taxon:9606 20260519 ClinVar RGD 1312370 ADCY9 HP:0030359 RGD:8554872 IAGP RGD:713702337 H adenylate cyclase 9 gene taxon:9606 20260519 ClinVar RGD 1312370 ADCY9 HP:0032336 RGD:632517844|PMID:28076799 IAGP H adenylate cyclase 9 gene taxon:9606 20260129 RGD RGD 1312370 ADCY9 HP:0100522 RGD:8554872 IAGP RGD:713631581 H adenylate cyclase 9 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0000006 MIM:610947|MIM:616724|MIM:621268|MIM:621449|PMID:17332414|PMID:26387593|PMID:31085352|PMID:34896607|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0000132 MIM:621449|PMID:31085352|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0000164 ORPHA:1810|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260209 HPO RGD 1312373 LRP6 HP:0000202 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0000202 PMID:22813217|PMID:26963285|PMID:28492532|RGD:8554872 IAGP RGD:11075176 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0000202 PMID:22813217|RGD:8554872 IAGP RGD:11075166 H LDL receptor related protein 6 gene taxon:9606 20260602 ClinVar RGD 1312373 LRP6 HP:0000202 PMID:22813217|RGD:8554872 IAGP RGD:11075168 H LDL receptor related protein 6 gene taxon:9606 20260602 ClinVar RGD 1312373 LRP6 HP:0000202 PMID:22813217|RGD:8554872 IAGP RGD:11075171 H LDL receptor related protein 6 gene taxon:9606 20260602 ClinVar RGD 1312373 LRP6 HP:0000202 PMID:22813217|RGD:8554872 IAGP RGD:11075177 H LDL receptor related protein 6 gene taxon:9606 20260602 ClinVar RGD 1312373 LRP6 HP:0000202 PMID:22813217|RGD:8554872 IAGP RGD:11075178 H LDL receptor related protein 6 gene taxon:9606 20260602 ClinVar RGD 1312373 LRP6 HP:0000202 PMID:23806086|RGD:8554872 IAGP RGD:11075169 H LDL receptor related protein 6 gene taxon:9606 20260602 ClinVar RGD 1312373 LRP6 HP:0000457 ORPHA:1810|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260209 HPO RGD 1312373 LRP6 HP:0000541 MIM:621268|PMID:34896607|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0000563 RGD:8554872 IAGP RGD:13795188 H LDL receptor related protein 6 gene taxon:9606 20210323 ClinVar RGD 1312373 LRP6 HP:0000668 ORPHA:1810|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260209 HPO RGD 1312373 LRP6 HP:0000670 MIM:621449|PMID:37065631|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0000677 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0000677 PMID:25741868|RGD:8554872 IAGP RGD:14978082 H LDL receptor related protein 6 gene taxon:9606 20230110 ClinVar RGD 1312373 LRP6 HP:0000677 PMID:25741868|RGD:8554872 IAGP RGD:155643249 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0000677 RGD:8554872 IAGP RGD:155963969 H LDL receptor related protein 6 gene taxon:9606 20230214 ClinVar RGD 1312373 LRP6 HP:0000677 RGD:8554872 IAGP RGD:155963975 H LDL receptor related protein 6 gene taxon:9606 20230214 ClinVar RGD 1312373 LRP6 HP:0000679 MIM:616724|ORPHA:99798|PMID:26387593|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20250912 HPO RGD 1312373 LRP6 HP:0000682 MIM:621449|PMID:37065631|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0000684 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0000685 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0000687 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0000689 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0000690 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0000691 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0000696 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0000703 PMID:25741868|RGD:8554872 IAGP RGD:151662916 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:14746755 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0000822 MIM:610947|PMID:17332414|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20250912 HPO RGD 1312373 LRP6 HP:0000939 MIM:610947|PMID:17332414|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20250912 HPO RGD 1312373 LRP6 HP:0000963 ORPHA:1810|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260209 HPO RGD 1312373 LRP6 HP:0000964 ORPHA:1810|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260209 HPO RGD 1312373 LRP6 HP:0000966 ORPHA:1810|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260209 HPO RGD 1312373 LRP6 HP:0000968 RGD:8554872 IAGP RGD:713966097 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0001000 ORPHA:1810|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260209 HPO RGD 1312373 LRP6 HP:0001231 ORPHA:1810|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260209 HPO RGD 1312373 LRP6 HP:0001328 PMID:25741868|RGD:8554872 IAGP RGD:151662916 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0001370 PMID:25741868|RGD:8554872 IAGP RGD:151662916 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0001382 PMID:25741868|RGD:8554872 IAGP RGD:151662916 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0001493 MIM:621268|PMID:34896607|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0001645 MIM:610947|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0001658 MIM:610947|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0001952 MIM:610947|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0001997 MIM:610947|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0002047 ORPHA:1810|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260209 HPO RGD 1312373 LRP6 HP:0002155 MIM:610947|PMID:17332414|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20250912 HPO RGD 1312373 LRP6 HP:0002231 ORPHA:1810|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260209 HPO RGD 1312373 LRP6 HP:0002315 MIM:621449|PMID:31085352|PMID:37065631|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0002650 PMID:25741868|RGD:8554872 IAGP RGD:151662916 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0002659 PMID:25741868|RGD:8554872 IAGP RGD:151662916 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0002719 PMID:25741868|RGD:8554872 IAGP RGD:151662916 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0002757 PMID:25741868|RGD:8554872 IAGP RGD:151662916 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0002861 RGD:8554872 IAGP RGD:713674638 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0002861 RGD:8554872 IAGP RGD:713674657 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0002861 RGD:8554872 IAGP RGD:713675023 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0002861 RGD:8554872 IAGP RGD:713675764 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0002861 RGD:8554872 IAGP RGD:713678474 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0002999 MIM:621449|PMID:31085352|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0003141 MIM:610947|PMID:17332414|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20250912 HPO RGD 1312373 LRP6 HP:0003165 MIM:621449|PMID:31085352|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0003416 MIM:621449|PMID:37065631|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0003581 MIM:610947|PMID:17332414|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20250912 HPO RGD 1312373 LRP6 HP:0003621 MIM:621268|PMID:34896607|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0004363 MIM:621449|PMID:31085352|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0004808 RGD:8554872 IAGP RGD:150446014 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0004808 RGD:8554872 IAGP RGD:714040940 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0005181 MIM:610947|PMID:17332414|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20250912 HPO RGD 1312373 LRP6 HP:0005216 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0005978 MIM:610947|PMID:17332414|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20250912 HPO RGD 1312373 LRP6 HP:0006289 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0006297 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0006323 ORPHA:1810|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260209 HPO RGD 1312373 LRP6 HP:0006335 MIM:621449|PMID:37065631|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0006336 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0006342 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0006344 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0006349 MIM:616724|PMID:26387593|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20250912 HPO RGD 1312373 LRP6 HP:0006482 ORPHA:1810|ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260209 HPO RGD 1312373 LRP6 HP:0006770 RGD:8554872 IAGP RGD:713674969 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0007513 PMID:25741868|RGD:8554872 IAGP RGD:38597741 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0007663 MIM:621268|PMID:34896607|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0008070 ORPHA:1810|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260209 HPO RGD 1312373 LRP6 HP:0009804 PMID:22813217|PMID:26963285|PMID:28492532|RGD:8554872 IAGP RGD:11075170 H LDL receptor related protein 6 gene taxon:9606 20230214 ClinVar RGD 1312373 LRP6 HP:0009804 PMID:22813217|RGD:8554872 IAGP RGD:11075119 H LDL receptor related protein 6 gene taxon:9606 20260602 ClinVar RGD 1312373 LRP6 HP:0009804 PMID:22813217|RGD:8554872 IAGP RGD:11075167 H LDL receptor related protein 6 gene taxon:9606 20260602 ClinVar RGD 1312373 LRP6 HP:0009804 PMID:22813217|RGD:8554872 IAGP RGD:11075172 H LDL receptor related protein 6 gene taxon:9606 20260602 ClinVar RGD 1312373 LRP6 HP:0009804 PMID:22813217|RGD:8554872 IAGP RGD:11075173 H LDL receptor related protein 6 gene taxon:9606 20260602 ClinVar RGD 1312373 LRP6 HP:0009804 PMID:22813217|RGD:8554872 IAGP RGD:11075174 H LDL receptor related protein 6 gene taxon:9606 20260602 ClinVar RGD 1312373 LRP6 HP:0009804 PMID:22813217|RGD:8554872 IAGP RGD:11075177 H LDL receptor related protein 6 gene taxon:9606 20260602 ClinVar RGD 1312373 LRP6 HP:0009804 PMID:23806086|RGD:8554872 IAGP RGD:11075169 H LDL receptor related protein 6 gene taxon:9606 20260602 ClinVar RGD 1312373 LRP6 HP:0009804 PMID:25741868|PMID:34834569|RGD:8554872 IAGP RGD:616936668 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0009804 PMID:25741868|RGD:8554872 IAGP RGD:401917967 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0010522 PMID:25741868|RGD:8554872 IAGP RGD:151662916 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0011002 MIM:621449|PMID:31085352|PMID:37065631|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0011044 MIM:621449|PMID:37065631|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0011050 MIM:621449|PMID:31085352|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0011051 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0011053 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0011056 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0011078 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0011219 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0011220 ORPHA:1810|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260209 HPO RGD 1312373 LRP6 HP:0011463 MIM:621268|PMID:34896607|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0011797 RGD:8554872 IAGP RGD:714040891 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0011797 RGD:8554872 IAGP RGD:714046452 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0012125 RGD:8554872 IAGP RGD:9686911 H LDL receptor related protein 6 gene taxon:9606 20250708 ClinVar RGD 1312373 LRP6 HP:0012126 RGD:8554872 IAGP RGD:150446014 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0012471 ORPHA:1810|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260209 HPO RGD 1312373 LRP6 HP:0012472 ORPHA:99798|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0012802 MIM:621449|PMID:31085352|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0030084 PMID:22813217|RGD:8554872 IAGP RGD:11075119 H LDL receptor related protein 6 gene taxon:9606 20260602 ClinVar RGD 1312373 LRP6 HP:0030084 PMID:23033978|RGD:8554872 IAGP RGD:11075175 H LDL receptor related protein 6 gene taxon:9606 20260602 ClinVar RGD 1312373 LRP6 HP:0030153 RGD:8554872 IAGP RGD:150517368 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0030667 MIM:621268|PMID:34896607|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0030833 MIM:621449|PMID:31085352|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0030839 MIM:621449|PMID:31085352|PMID:37065631|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0031817 MIM:621449|PMID:31085352|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0040270 MIM:610947|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20230821 HPO RGD 1312373 LRP6 HP:0100242 RGD:8554872 IAGP RGD:150446014 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0100522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15108933 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0100522 RGD:8554872 IAGP RGD:713676965 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0100526 RGD:8554872 IAGP RGD:150446014 H LDL receptor related protein 6 gene taxon:9606 20260519 ClinVar RGD 1312373 LRP6 HP:0100529 MIM:621449|PMID:31085352|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0100774 MIM:621449|PMID:37065631|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312373 LRP6 HP:0100789 MIM:621449|PMID:31085352|PMID:37065631|RGD:8699517 IAGP H LDL receptor related protein 6 gene taxon:9606 20260423 HPO RGD 1312375 DQX1 HP:0002804 PMID:25741868|PMID:31680123|RGD:8554872 IAGP RGD:15040457 H DEAQ-box RNA dependent ATPase 1 gene taxon:9606 20220510 ClinVar RGD 1312375 DQX1 HP:0002861 RGD:8554872 IAGP RGD:713674968 H DEAQ-box RNA dependent ATPase 1 gene taxon:9606 20260519 ClinVar RGD 1312375 DQX1 HP:0012126 RGD:8554872 IAGP RGD:713522079 H DEAQ-box RNA dependent ATPase 1 gene taxon:9606 20260519 ClinVar RGD 1312379 PCDH17 HP:0003003 RGD:8554872 IAGP RGD:713879880 H protocadherin 17 gene taxon:9606 20260519 ClinVar RGD 1312379 PCDH17 HP:0004808 RGD:8554872 IAGP RGD:714159882 H protocadherin 17 gene taxon:9606 20260519 ClinVar RGD 1312379 PCDH17 HP:0012126 RGD:8554872 IAGP RGD:713805132 H protocadherin 17 gene taxon:9606 20260519 ClinVar RGD 1312379 PCDH17 HP:0100526 RGD:8554872 IAGP RGD:713805115 H protocadherin 17 gene taxon:9606 20260519 ClinVar RGD 1312380 HCLS1 HP:0004808 RGD:8554872 IAGP RGD:714046515 H hematopoietic cell-specific Lyn substrate 1 gene taxon:9606 20260519 ClinVar RGD 1312380 HCLS1 HP:0004808 RGD:8554872 IAGP RGD:714049255 H hematopoietic cell-specific Lyn substrate 1 gene taxon:9606 20260519 ClinVar RGD 1312380 HCLS1 HP:0012126 RGD:8554872 IAGP RGD:713526729 H hematopoietic cell-specific Lyn substrate 1 gene taxon:9606 20260519 ClinVar RGD 1312380 HCLS1 HP:0030153 RGD:8554872 IAGP RGD:713526729 H hematopoietic cell-specific Lyn substrate 1 gene taxon:9606 20260519 ClinVar RGD 1312380 HCLS1 HP:0030153 RGD:8554872 IAGP RGD:714192769 H hematopoietic cell-specific Lyn substrate 1 gene taxon:9606 20260519 ClinVar RGD 1312380 HCLS1 HP:0100242 RGD:8554872 IAGP RGD:714051216 H hematopoietic cell-specific Lyn substrate 1 gene taxon:9606 20260519 ClinVar RGD 1312380 HCLS1 HP:0100522 RGD:8554872 IAGP RGD:714192782 H hematopoietic cell-specific Lyn substrate 1 gene taxon:9606 20260519 ClinVar RGD 1312380 HCLS1 HP:0100522 RGD:8554872 IAGP RGD:714192797 H hematopoietic cell-specific Lyn substrate 1 gene taxon:9606 20260519 ClinVar RGD 1312380 HCLS1 HP:0100526 RGD:8554872 IAGP RGD:713526729 H hematopoietic cell-specific Lyn substrate 1 gene taxon:9606 20260519 ClinVar RGD 1312380 HCLS1 HP:0100526 RGD:8554872 IAGP RGD:714043824 H hematopoietic cell-specific Lyn substrate 1 gene taxon:9606 20260519 ClinVar RGD 1312380 HCLS1 HP:0100526 RGD:8554872 IAGP RGD:714192748 H hematopoietic cell-specific Lyn substrate 1 gene taxon:9606 20260519 ClinVar RGD 1312384 FANK1 HP:0001402 RGD:8554872 IAGP RGD:714259335 H fibronectin type III and ankyrin repeat domains 1 gene taxon:9606 20260519 ClinVar RGD 1312384 FANK1 HP:0002861 RGD:8554872 IAGP RGD:713368407 H fibronectin type III and ankyrin repeat domains 1 gene taxon:9606 20260519 ClinVar RGD 1312384 FANK1 HP:0002861 RGD:8554872 IAGP RGD:714261284 H fibronectin type III and ankyrin repeat domains 1 gene taxon:9606 20260519 ClinVar RGD 1312384 FANK1 HP:0004808 RGD:8554872 IAGP RGD:714259335 H fibronectin type III and ankyrin repeat domains 1 gene taxon:9606 20260519 ClinVar RGD 1312384 FANK1 HP:0012126 RGD:8554872 IAGP RGD:713984536 H fibronectin type III and ankyrin repeat domains 1 gene taxon:9606 20260519 ClinVar RGD 1312384 FANK1 HP:0012126 RGD:8554872 IAGP RGD:714261284 H fibronectin type III and ankyrin repeat domains 1 gene taxon:9606 20260519 ClinVar RGD 1312384 FANK1 HP:0030359 RGD:8554872 IAGP RGD:713368428 H fibronectin type III and ankyrin repeat domains 1 gene taxon:9606 20260519 ClinVar RGD 1312384 FANK1 HP:0100242 RGD:8554872 IAGP RGD:714261284 H fibronectin type III and ankyrin repeat domains 1 gene taxon:9606 20260519 ClinVar RGD 1312384 FANK1 HP:0100526 RGD:8554872 IAGP RGD:713368505 H fibronectin type III and ankyrin repeat domains 1 gene taxon:9606 20260519 ClinVar RGD 1312384 FANK1 HP:0100526 RGD:8554872 IAGP RGD:714261284 H fibronectin type III and ankyrin repeat domains 1 gene taxon:9606 20260519 ClinVar RGD 1312386 ELAC1 HP:0003003 RGD:8554872 IAGP RGD:713750923 H elaC ribonuclease Z 1 gene taxon:9606 20260519 ClinVar RGD 1312386 ELAC1 HP:0011797 RGD:8554872 IAGP RGD:714191411 H elaC ribonuclease Z 1 gene taxon:9606 20260519 ClinVar RGD 1312386 ELAC1 HP:0011797 RGD:8554872 IAGP RGD:714191416 H elaC ribonuclease Z 1 gene taxon:9606 20260519 ClinVar RGD 1312386 ELAC1 HP:0100242 RGD:8554872 IAGP RGD:713750939 H elaC ribonuclease Z 1 gene taxon:9606 20260519 ClinVar RGD 1312386 ELAC1 HP:0100522 RGD:8554872 IAGP RGD:713750892 H elaC ribonuclease Z 1 gene taxon:9606 20260519 ClinVar RGD 1312389 PI16 HP:0001402 RGD:8554872 IAGP RGD:714080993 H peptidase inhibitor 16 gene taxon:9606 20260519 ClinVar RGD 1312389 PI16 HP:0012126 RGD:8554872 IAGP RGD:713563663 H peptidase inhibitor 16 gene taxon:9606 20260519 ClinVar RGD 1312389 PI16 HP:0012126 RGD:8554872 IAGP RGD:713563682 H peptidase inhibitor 16 gene taxon:9606 20260519 ClinVar RGD 1312391 MRPS6 HP:0012126 RGD:8554872 IAGP RGD:713783285 H mitochondrial ribosomal protein S6 gene taxon:9606 20260519 ClinVar RGD 1312394 CCT6A HP:0000750 PMID:25741868|PMID:39480921|RGD:8554872 IAGP RGD:714107298 H chaperonin containing TCP1 subunit 6A gene taxon:9606 20260519 ClinVar RGD 1312394 CCT6A HP:0001402 RGD:8554872 IAGP RGD:714083776 H chaperonin containing TCP1 subunit 6A gene taxon:9606 20260519 ClinVar RGD 1312394 CCT6A HP:0001402 RGD:8554872 IAGP RGD:714083789 H chaperonin containing TCP1 subunit 6A gene taxon:9606 20260519 ClinVar RGD 1312394 CCT6A HP:0001508 PMID:25741868|PMID:39480921|RGD:8554872 IAGP RGD:714107298 H chaperonin containing TCP1 subunit 6A gene taxon:9606 20260519 ClinVar RGD 1312394 CCT6A HP:0002861 RGD:8554872 IAGP RGD:713643688 H chaperonin containing TCP1 subunit 6A gene taxon:9606 20260519 ClinVar RGD 1312394 CCT6A HP:0011797 RGD:8554872 IAGP RGD:713602331 H chaperonin containing TCP1 subunit 6A gene taxon:9606 20260519 ClinVar RGD 1312394 CCT6A HP:0012126 RGD:8554872 IAGP RGD:713663877 H chaperonin containing TCP1 subunit 6A gene taxon:9606 20260519 ClinVar RGD 1312394 CCT6A HP:0100242 RGD:8554872 IAGP RGD:713643589 H chaperonin containing TCP1 subunit 6A gene taxon:9606 20260519 ClinVar RGD 1312394 CCT6A HP:0100522 RGD:8554872 IAGP RGD:713643610 H chaperonin containing TCP1 subunit 6A gene taxon:9606 20260519 ClinVar RGD 1312394 CCT6A HP:0100522 RGD:8554872 IAGP RGD:713643693 H chaperonin containing TCP1 subunit 6A gene taxon:9606 20260519 ClinVar RGD 1312394 CCT6A HP:0100526 RGD:8554872 IAGP RGD:713643648 H chaperonin containing TCP1 subunit 6A gene taxon:9606 20260519 ClinVar RGD 1312396 PPP2R1B HP:0000006 MIM:211980|RGD:8699517 IAGP H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20230821 HPO RGD 1312396 PPP2R1B HP:0001402 RGD:8554872 IAGP RGD:405277231 H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20260519 ClinVar RGD 1312396 PPP2R1B HP:0001402 RGD:8554872 IAGP RGD:714091258 H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20260519 ClinVar RGD 1312396 PPP2R1B HP:0001402 RGD:8554872 IAGP RGD:714091267 H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20260519 ClinVar RGD 1312396 PPP2R1B HP:0001442 MIM:211980|RGD:8699517 IAGP H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20230821 HPO RGD 1312396 PPP2R1B HP:0002861 RGD:8554872 IAGP RGD:713413340 H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20260519 ClinVar RGD 1312396 PPP2R1B HP:0004808 RGD:8554872 IAGP RGD:713733873 H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20260519 ClinVar RGD 1312396 PPP2R1B HP:0004808 RGD:8554872 IAGP RGD:713733894 H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20260519 ClinVar RGD 1312396 PPP2R1B HP:0006519 MIM:211980|RGD:8699517 IAGP H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20230821 HPO RGD 1312396 PPP2R1B HP:0012126 RGD:8554872 IAGP RGD:714014263 H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20260519 ClinVar RGD 1312396 PPP2R1B HP:0030078 MIM:211980|RGD:8699517 IAGP H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20230821 HPO RGD 1312396 PPP2R1B HP:0030358 MIM:211980|RGD:8699517 IAGP H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20230821 HPO RGD 1312396 PPP2R1B HP:0100242 RGD:8554872 IAGP RGD:713413316 H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20260519 ClinVar RGD 1312396 PPP2R1B HP:0100526 RGD:8554872 IAGP RGD:126732628 H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20210608 ClinVar RGD 1312396 PPP2R1B HP:0100526 RGD:8554872 IAGP RGD:713413357 H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20260519 ClinVar RGD 1312396 PPP2R1B HP:0100526 RGD:8554872 IAGP RGD:8559452 H protein phosphatase 2 scaffold subunit Abeta gene taxon:9606 20260602 ClinVar RGD 1312398 ANO6 HP:0000007 MIM:262890|RGD:8699517 IAGP H anoctamin 6 gene taxon:9606 20230821 HPO RGD 1312398 ANO6 HP:0000132 ORPHA:806|RGD:8699517 IAGP H anoctamin 6 gene taxon:9606 20260209 HPO RGD 1312398 ANO6 HP:0000225 ORPHA:806|RGD:8699517 IAGP H anoctamin 6 gene taxon:9606 20260209 HPO RGD 1312398 ANO6 HP:0000421 ORPHA:806|RGD:8699517 IAGP H anoctamin 6 gene taxon:9606 20260209 HPO RGD 1312398 ANO6 HP:0000978 ORPHA:806|RGD:8699517 IAGP H anoctamin 6 gene taxon:9606 20260209 HPO RGD 1312398 ANO6 HP:0001892 MIM:262890|RGD:8699517 IAGP H anoctamin 6 gene taxon:9606 20230821 HPO RGD 1312398 ANO6 HP:0002861 PMID:21107324|PMID:25741868|PMID:28492532|PMID:37647632|RGD:8554872 IAGP RGD:13481939 H anoctamin 6 gene taxon:9606 20260602 ClinVar RGD 1312398 ANO6 HP:0003003 RGD:8554872 IAGP RGD:713853643 H anoctamin 6 gene taxon:9606 20260519 ClinVar RGD 1312398 ANO6 HP:0004808 RGD:8554872 IAGP RGD:714042674 H anoctamin 6 gene taxon:9606 20260519 ClinVar RGD 1312398 ANO6 HP:0004808 RGD:8554872 IAGP RGD:714045217 H anoctamin 6 gene taxon:9606 20260519 ClinVar RGD 1312398 ANO6 HP:0004808 RGD:8554872 IAGP RGD:714045227 H anoctamin 6 gene taxon:9606 20260519 ClinVar RGD 1312398 ANO6 HP:0004846 ORPHA:806|RGD:8699517 IAGP H anoctamin 6 gene taxon:9606 20260209 HPO RGD 1312398 ANO6 HP:0008151 ORPHA:806|RGD:8699517 IAGP H anoctamin 6 gene taxon:9606 20260209 HPO RGD 1312398 ANO6 HP:0008354 MIM:262890|RGD:8699517 IAGP H anoctamin 6 gene taxon:9606 20230821 HPO RGD 1312398 ANO6 HP:0011891 ORPHA:806|RGD:8699517 IAGP H anoctamin 6 gene taxon:9606 20260209 HPO RGD 1312398 ANO6 HP:0012126 RGD:8554872 IAGP RGD:713624270 H anoctamin 6 gene taxon:9606 20260519 ClinVar RGD 1312398 ANO6 HP:0012126 RGD:8554872 IAGP RGD:713986120 H anoctamin 6 gene taxon:9606 20260519 ClinVar RGD 1312398 ANO6 HP:0100242 RGD:8554872 IAGP RGD:714045227 H anoctamin 6 gene taxon:9606 20260519 ClinVar RGD 1312398 ANO6 HP:0100522 RGD:8554872 IAGP RGD:150501672 H anoctamin 6 gene taxon:9606 20260519 ClinVar RGD 1312398 ANO6 HP:0100522 RGD:8554872 IAGP RGD:713624264 H anoctamin 6 gene taxon:9606 20260519 ClinVar RGD 1312398 ANO6 HP:0100522 RGD:8554872 IAGP RGD:713853616 H anoctamin 6 gene taxon:9606 20260519 ClinVar RGD 1312398 ANO6 HP:0100526 RGD:8554872 IAGP RGD:714045227 H anoctamin 6 gene taxon:9606 20260519 ClinVar RGD 1312400 ARHGEF19 HP:0001402 RGD:8554872 IAGP RGD:713789482 H Rho guanine nucleotide exchange factor 19 gene taxon:9606 20260519 ClinVar RGD 1312400 ARHGEF19 HP:0012126 RGD:8554872 IAGP RGD:713789469 H Rho guanine nucleotide exchange factor 19 gene taxon:9606 20260519 ClinVar RGD 1312400 ARHGEF19 HP:0012126 RGD:8554872 IAGP RGD:713789482 H Rho guanine nucleotide exchange factor 19 gene taxon:9606 20260519 ClinVar RGD 1312400 ARHGEF19 HP:0012126 RGD:8554872 IAGP RGD:713789596 H Rho guanine nucleotide exchange factor 19 gene taxon:9606 20260519 ClinVar RGD 1312400 ARHGEF19 HP:0012126 RGD:8554872 IAGP RGD:713789711 H Rho guanine nucleotide exchange factor 19 gene taxon:9606 20260519 ClinVar RGD 1312400 ARHGEF19 HP:0100526 RGD:8554872 IAGP RGD:713883519 H Rho guanine nucleotide exchange factor 19 gene taxon:9606 20260519 ClinVar RGD 1312400 ARHGEF19 HP:0100526 RGD:8554872 IAGP RGD:713883693 H Rho guanine nucleotide exchange factor 19 gene taxon:9606 20260519 ClinVar RGD 1312400 ARHGEF19 HP:0100526 RGD:8554872 IAGP RGD:714164964 H Rho guanine nucleotide exchange factor 19 gene taxon:9606 20260519 ClinVar RGD 1312400 ARHGEF19 HP:0100615 RGD:8554872 IAGP RGD:713789831 H Rho guanine nucleotide exchange factor 19 gene taxon:9606 20260519 ClinVar RGD 1312400 ARHGEF19 HP:0100615 RGD:8554872 IAGP RGD:714161283 H Rho guanine nucleotide exchange factor 19 gene taxon:9606 20260519 ClinVar RGD 1312403 TRAF3IP2 HP:0000007 MIM:615527|PMID:24120361|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312403 TRAF3IP2 HP:0000010 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0000142 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0000153 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0000158 MIM:615527|PMID:24120361|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312403 TRAF3IP2 HP:0000159 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0000478 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0000498 MIM:615527|PMID:24120361|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312403 TRAF3IP2 HP:0000504 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0000682 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0000790 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0000951 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0000962 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0000988 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0000989 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0001051 MIM:615527|PMID:24120361|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312403 TRAF3IP2 HP:0001231 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0001250 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0001597 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0001821 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0002105 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0002205 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0002715 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0002719 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0003621 MIM:615527|PMID:24120361|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312403 TRAF3IP2 HP:0004306 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0004370 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0008388 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0008872 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0009098 MIM:615527|PMID:24120361|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312403 TRAF3IP2 HP:0010783 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0011463 MIM:615527|PMID:24120361|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312403 TRAF3IP2 HP:0012115 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0012203 MIM:615527|PMID:24120361|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312403 TRAF3IP2 HP:0012735 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0030016 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0100825 MIM:615527|ORPHA:1334|PMID:24120361|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312403 TRAF3IP2 HP:0200034 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312403 TRAF3IP2 HP:0200042 ORPHA:1334|RGD:8699517 IAGP H TRAF3 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312407 CNOT3 HP:0000006 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000248 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000256 RGD:8554872 IAGP RGD:38598868 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000268 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000269 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000271 PMID:25741868|PMID:37003183|RGD:8554872 IAGP RGD:596946895 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000272 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000286 RGD:8554872 IAGP RGD:38598868 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000303 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000316 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000316 PMID:25741868|RGD:8554872 IAGP RGD:152999219 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000322 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000337 RGD:8554872 IAGP RGD:38598868 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000348 PMID:25741868|RGD:8554872 IAGP RGD:152999219 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000369 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000369 PMID:25741868|RGD:8554872 IAGP RGD:152999219 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000405 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000407 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000407 PMID:25741868|RGD:8554872 IAGP RGD:38463778 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000457 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000463 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000486 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000486 RGD:8554872 IAGP RGD:38598868 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000490 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000540 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000582 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000582 PMID:25741868|RGD:8554872 IAGP RGD:152999219 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000582 PMID:25741868|RGD:8554872 IAGP RGD:408394461 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000601 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000639 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000648 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:408394570 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000717 PMID:25741868|PMID:31201375|RGD:8554872 IAGP RGD:730468218 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260616 ClinVar RGD 1312407 CNOT3 HP:0000717 PMID:25741868|PMID:37003183|RGD:8554872 IAGP RGD:596946895 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000717 PMID:28492532|RGD:8554872 IAGP RGD:151663756 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000729 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:156435183 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20230307 ClinVar RGD 1312407 CNOT3 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:21066817 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:596946894 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000750 PMID:25741868|PMID:31201375|RGD:8554872 IAGP RGD:730468218 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260616 ClinVar RGD 1312407 CNOT3 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:596946894 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000750 PMID:28492532|RGD:8554872 IAGP RGD:151663756 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000750 RGD:8554872 IAGP RGD:150338467 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000750 RGD:8554872 IAGP RGD:38598868 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0000964 RGD:8554872 IAGP RGD:150338467 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001182 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0001249 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38596568 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20240403 ClinVar RGD 1312407 CNOT3 HP:0001249 PMID:25741868|PMID:31201375|RGD:8554872 IAGP RGD:730468218 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260616 ClinVar RGD 1312407 CNOT3 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38596570 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20210323 ClinVar RGD 1312407 CNOT3 HP:0001249 RGD:8554872 IAGP RGD:150338467 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001249 RGD:8554872 IAGP RGD:713889872 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001249 RGD:8554872 IAGP RGD:713889884 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:405692241 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001250 RGD:8554872 IAGP RGD:150338467 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001252 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0001252 PMID:25741868|PMID:31201375|RGD:8554872 IAGP RGD:730468218 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260616 ClinVar RGD 1312407 CNOT3 HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:596946894 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001263 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0001263 PMID:25741868|PMID:618672|RGD:8554872 IAGP RGD:155268972 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:152999219 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155643289 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:405692241 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001263 PMID:28492532|RGD:8554872 IAGP RGD:151663756 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001263 RGD:8554872 IAGP RGD:38598868 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001290 RGD:8554872 IAGP RGD:13532437 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001344 PMID:25741868|RGD:8554872 IAGP RGD:152999219 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001357 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0001385 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0001402 RGD:8554872 IAGP RGD:713366649 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001402 RGD:8554872 IAGP RGD:713734166 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001510 PMID:25741868|RGD:8554872 IAGP RGD:152999219 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001513 PMID:25741868|RGD:8554872 IAGP RGD:408394461 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001622 RGD:8554872 IAGP RGD:150338467 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001631 PMID:25741868|RGD:8554872 IAGP RGD:405692241 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001763 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0001903 PMID:25741868|RGD:8554872 IAGP RGD:152999219 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001999 PMID:25741868|PMID:31201375|RGD:8554872 IAGP RGD:730468218 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260616 ClinVar RGD 1312407 CNOT3 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:21066817 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:596946894 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0002002 PMID:25741868|RGD:8554872 IAGP RGD:152999219 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0002079 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0002099 RGD:8554872 IAGP RGD:150338467 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0002162 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0002188 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0002194 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0002280 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0002376 PMID:28492532|RGD:8554872 IAGP RGD:151663756 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0002650 PMID:25741868|RGD:8554872 IAGP RGD:596946894 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0002691 PMID:25741868|RGD:8554872 IAGP RGD:596946894 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0002714 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0002750 PMID:25741868|RGD:8554872 IAGP RGD:152999219 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0002861 RGD:8554872 IAGP RGD:713875535 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0003196 PMID:25741868|RGD:8554872 IAGP RGD:152999219 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0003307 PMID:25741868|RGD:8554872 IAGP RGD:596946894 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0003473 PMID:25741868|RGD:8554872 IAGP RGD:21066817 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0003593 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0004209 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0004322 PMID:25741868|PMID:37003183|RGD:8554872 IAGP RGD:596946895 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:408394461 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0004325 PMID:28492532|RGD:8554872 IAGP RGD:151663756 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0004961 PMID:25741868|RGD:8554872 IAGP RGD:596946894 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0005280 PMID:25741868|RGD:8554872 IAGP RGD:408394461 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0007018 RGD:8554872 IAGP RGD:150338467 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0007074 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0007270 PMID:25741868|RGD:8554872 IAGP RGD:40886527 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0008872 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0010862 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0011220 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0011342 PMID:25741868|PMID:37003183|RGD:8554872 IAGP RGD:596946895 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0011344 PMID:25741868|RGD:8554872 IAGP RGD:408394461 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0011800 PMID:25741868|RGD:8554872 IAGP RGD:408394461 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0012126 RGD:8554872 IAGP RGD:713767789 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0012126 RGD:8554872 IAGP RGD:713767809 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260707 ClinVar RGD 1312407 CNOT3 HP:0012126 RGD:8554872 IAGP RGD:713767846 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0030153 RGD:8554872 IAGP RGD:713824908 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0030359 RGD:8554872 IAGP RGD:713875580 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0031936 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0032322 PMID:25741868|PMID:31201375|RGD:8554872 IAGP RGD:730468218 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260616 ClinVar RGD 1312407 CNOT3 HP:0100526 RGD:8554872 IAGP RGD:713875513 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0100526 RGD:8554872 IAGP RGD:713875666 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0100702 PMID:25741868|RGD:8554872 IAGP RGD:596946894 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0200055 MIM:618672|PMID:31201375|RGD:8699517 IAGP H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20250912 HPO RGD 1312407 CNOT3 HP:0200134 PMID:25741868|RGD:8554872 IAGP RGD:40886527 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312407 CNOT3 HP:0410018 PMID:28492532|RGD:8554872 IAGP RGD:151663756 H CCR4-NOT transcription complex subunit 3 gene taxon:9606 20260519 ClinVar RGD 1312413 XIRP1 HP:0002861 RGD:8554872 IAGP RGD:713808235 H xin actin binding repeat containing 1 gene taxon:9606 20260519 ClinVar RGD 1312413 XIRP1 HP:0002861 RGD:8554872 IAGP RGD:713808251 H xin actin binding repeat containing 1 gene taxon:9606 20260519 ClinVar RGD 1312413 XIRP1 HP:0002861 RGD:8554872 IAGP RGD:713808288 H xin actin binding repeat containing 1 gene taxon:9606 20260519 ClinVar RGD 1312413 XIRP1 HP:0006770 RGD:8554872 IAGP RGD:713808305 H xin actin binding repeat containing 1 gene taxon:9606 20260519 ClinVar RGD 1312413 XIRP1 HP:0012126 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15150735 H xin actin binding repeat containing 1 gene taxon:9606 20260519 ClinVar RGD 1312413 XIRP1 HP:0100522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15150735 H xin actin binding repeat containing 1 gene taxon:9606 20260519 ClinVar RGD 1312415 NRIP3 HP:0003003 RGD:8554872 IAGP RGD:713424858 H nuclear receptor interacting protein 3 gene taxon:9606 20260519 ClinVar RGD 1312415 NRIP3 HP:0004808 RGD:8554872 IAGP RGD:714102012 H nuclear receptor interacting protein 3 gene taxon:9606 20260519 ClinVar RGD 1312417 CERCAM HP:0001402 RGD:8554872 IAGP RGD:714087680 H cerebral endothelial cell adhesion molecule gene taxon:9606 20260519 ClinVar RGD 1312417 CERCAM HP:0002861 RGD:8554872 IAGP RGD:713511322 H cerebral endothelial cell adhesion molecule gene taxon:9606 20260519 ClinVar RGD 1312417 CERCAM HP:0004808 RGD:8554872 IAGP RGD:713511970 H cerebral endothelial cell adhesion molecule gene taxon:9606 20260519 ClinVar RGD 1312417 CERCAM HP:0004808 RGD:8554872 IAGP RGD:713511985 H cerebral endothelial cell adhesion molecule gene taxon:9606 20260519 ClinVar RGD 1312417 CERCAM HP:0007716 RGD:8554872 IAGP RGD:714011428 H cerebral endothelial cell adhesion molecule gene taxon:9606 20260519 ClinVar RGD 1312417 CERCAM HP:0100242 RGD:8554872 IAGP RGD:713511970 H cerebral endothelial cell adhesion molecule gene taxon:9606 20260519 ClinVar RGD 1312417 CERCAM HP:0100526 RGD:8554872 IAGP RGD:713511341 H cerebral endothelial cell adhesion molecule gene taxon:9606 20260519 ClinVar RGD 1312417 CERCAM HP:0100526 RGD:8554872 IAGP RGD:713511970 H cerebral endothelial cell adhesion molecule gene taxon:9606 20260519 ClinVar RGD 1312420 SPATS2 HP:0001402 RGD:8554872 IAGP RGD:714048257 H spermatogenesis associated serine rich 2 gene taxon:9606 20260519 ClinVar RGD 1312420 SPATS2 HP:0004808 RGD:8554872 IAGP RGD:714039859 H spermatogenesis associated serine rich 2 gene taxon:9606 20260519 ClinVar RGD 1312420 SPATS2 HP:0006770 RGD:8554872 IAGP RGD:713862251 H spermatogenesis associated serine rich 2 gene taxon:9606 20260519 ClinVar RGD 1312420 SPATS2 HP:0012126 RGD:8554872 IAGP RGD:713624707 H spermatogenesis associated serine rich 2 gene taxon:9606 20260519 ClinVar RGD 1312420 SPATS2 HP:0100526 RGD:8554872 IAGP RGD:713624691 H spermatogenesis associated serine rich 2 gene taxon:9606 20260519 ClinVar RGD 1312420 SPATS2 HP:0100526 RGD:8554872 IAGP RGD:713862386 H spermatogenesis associated serine rich 2 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0000007 MIM:617873|PMID:24901367|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20250912 HPO RGD 1312422 TRIT1 HP:0000126 PMID:25741868|RGD:8554872 IAGP RGD:401855660 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0000252 MIM:617873|PMID:24901367|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20250912 HPO RGD 1312422 TRIT1 HP:0000252 PMID:24901367|PMID:25741868|PMID:28185376|PMID:28492532|PMID:36047296|PMID:36049610|RGD:8554872 IAGP RGD:13212514 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:12892088 H tRNA isopentenyltransferase 1 gene taxon:9606 20260602 ClinVar RGD 1312422 TRIT1 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:150529888 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:401855660 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:401924310 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0000256 PMID:25741868|PMID:30977854|RGD:8554872 IAGP RGD:13674029 H tRNA isopentenyltransferase 1 gene taxon:9606 20260602 ClinVar RGD 1312422 TRIT1 HP:0000545 MIM:617873|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20230821 HPO RGD 1312422 TRIT1 HP:0000565 MIM:617873|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20230821 HPO RGD 1312422 TRIT1 HP:0000707 PMID:24901367|PMID:25741868|PMID:26381753|RGD:8554872 IAGP RGD:13509402 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0000707 PMID:25741868|PMID:28492532|PMID:32948376|RGD:8554872 IAGP RGD:150411157 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:408368354 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:408368358 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:597831643 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0000750 MIM:617873|PMID:24901367|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20250912 HPO RGD 1312422 TRIT1 HP:0000750 PMID:24901367|PMID:25741868|PMID:28185376|PMID:28492532|PMID:36047296|PMID:36049610|RGD:8554872 IAGP RGD:13212514 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:401924310 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0001249 MIM:617873|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20230821 HPO RGD 1312422 TRIT1 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:401855660 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0001250 PMID:24901367|PMID:25741868|PMID:28185376|PMID:28492532|PMID:30977854|RGD:8554872 IAGP RGD:13674028 H tRNA isopentenyltransferase 1 gene taxon:9606 20260602 ClinVar RGD 1312422 TRIT1 HP:0001250 PMID:24901367|PMID:25741868|PMID:28185376|PMID:28492532|PMID:36047296|PMID:36049610|RGD:8554872 IAGP RGD:13212514 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:152999212 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:401924310 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0001251 PMID:24901367|PMID:25741868|PMID:28185376|PMID:28492532|PMID:36047296|PMID:36049610|RGD:8554872 IAGP RGD:13212514 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:401924310 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0001257 MIM:617873|PMID:24901367|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20250912 HPO RGD 1312422 TRIT1 HP:0001263 MIM:617873|PMID:24901367|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20250912 HPO RGD 1312422 TRIT1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:12892088 H tRNA isopentenyltransferase 1 gene taxon:9606 20260602 ClinVar RGD 1312422 TRIT1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:150529888 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:152999212 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0001290 MIM:617873|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20230821 HPO RGD 1312422 TRIT1 HP:0001320 PMID:25741868|RGD:8554872 IAGP RGD:152999212 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0001332 MIM:617873|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20230821 HPO RGD 1312422 TRIT1 HP:0001344 MIM:617873|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20230821 HPO RGD 1312422 TRIT1 HP:0001508 MIM:617873|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20230821 HPO RGD 1312422 TRIT1 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:12892088 H tRNA isopentenyltransferase 1 gene taxon:9606 20260602 ClinVar RGD 1312422 TRIT1 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:150529888 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0002059 MIM:617873|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20230821 HPO RGD 1312422 TRIT1 HP:0002079 PMID:25741868|RGD:8554872 IAGP RGD:152999212 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0002121 PMID:24901367|PMID:25741868|PMID:28185376|PMID:28492532|PMID:36047296|PMID:36049610|RGD:8554872 IAGP RGD:13212514 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0002121 PMID:25741868|RGD:8554872 IAGP RGD:401924310 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0002123 MIM:617873|PMID:24901367|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20250912 HPO RGD 1312422 TRIT1 HP:0002209 PMID:25741868|RGD:8554872 IAGP RGD:12892088 H tRNA isopentenyltransferase 1 gene taxon:9606 20260602 ClinVar RGD 1312422 TRIT1 HP:0002209 PMID:25741868|RGD:8554872 IAGP RGD:150529888 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0002353 MIM:617873|PMID:24901367|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20250912 HPO RGD 1312422 TRIT1 HP:0002373 MIM:617873|PMID:24901367|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20250912 HPO RGD 1312422 TRIT1 HP:0002376 PMID:24901367|PMID:25741868|PMID:28185376|PMID:28492532|PMID:30977854|RGD:8554872 IAGP RGD:13674028 H tRNA isopentenyltransferase 1 gene taxon:9606 20260602 ClinVar RGD 1312422 TRIT1 HP:0003593 MIM:617873|PMID:24901367|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20250912 HPO RGD 1312422 TRIT1 HP:0005306 PMID:25741868|RGD:8554872 IAGP RGD:12892088 H tRNA isopentenyltransferase 1 gene taxon:9606 20260602 ClinVar RGD 1312422 TRIT1 HP:0005306 PMID:25741868|RGD:8554872 IAGP RGD:150529888 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0007766 MIM:617873|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20230821 HPO RGD 1312422 TRIT1 HP:0008347 MIM:617873|PMID:24901367|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20250912 HPO RGD 1312422 TRIT1 HP:0010864 PMID:25741868|RGD:8554872 IAGP RGD:152999212 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0011923 MIM:617873|PMID:24901367|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20250912 HPO RGD 1312422 TRIT1 HP:0012469 PMID:24901367|PMID:25741868|PMID:28185376|PMID:28492532|PMID:36047296|PMID:36049610|RGD:8554872 IAGP RGD:13212514 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0012469 PMID:25741868|RGD:8554872 IAGP RGD:401924310 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0012759 PMID:24901367|PMID:25741868|PMID:28185376|PMID:28492532|PMID:30977854|RGD:8554872 IAGP RGD:13674028 H tRNA isopentenyltransferase 1 gene taxon:9606 20260602 ClinVar RGD 1312422 TRIT1 HP:0030153 RGD:8554872 IAGP RGD:713395096 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0031936 MIM:617873|PMID:24901367|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20250912 HPO RGD 1312422 TRIT1 HP:0032794 PMID:25741868|RGD:8554872 IAGP RGD:401855660 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0032842 PMID:24901367|PMID:25741868|PMID:28185376|PMID:28492532|PMID:36047296|PMID:36049610|RGD:8554872 IAGP RGD:13212514 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0032842 PMID:25741868|RGD:8554872 IAGP RGD:401924310 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0100242 RGD:8554872 IAGP RGD:713395793 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0100526 RGD:8554872 IAGP RGD:713395721 H tRNA isopentenyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1312422 TRIT1 HP:0200134 MIM:617873|PMID:24901367|RGD:8699517 IAGP H tRNA isopentenyltransferase 1 gene taxon:9606 20250912 HPO RGD 1312422 TRIT1 HP:0200134 PMID:24901367|PMID:25741868|PMID:28185376|PMID:28492532|PMID:30977854|RGD:8554872 IAGP RGD:13674028 H tRNA isopentenyltransferase 1 gene taxon:9606 20260602 ClinVar RGD 1312424 RPRD1B HP:0100242 RGD:8554872 IAGP RGD:713777102 H regulation of nuclear pre-mRNA domain containing 1B gene taxon:9606 20260519 ClinVar RGD 1312426 LMX1A HP:0000006 MIM:601412|RGD:8699517 IAGP H LIM homeobox transcription factor 1 alpha gene taxon:9606 20230821 HPO RGD 1312426 LMX1A HP:0000365 PMID:25741868|PMID:32840933|RGD:8554872 IAGP RGD:155267888 H LIM homeobox transcription factor 1 alpha gene taxon:9606 20260519 ClinVar RGD 1312426 LMX1A HP:0000365 PMID:25741868|PMID:35711095|PMID:36140227|RGD:8554872 IAGP RGD:155719852 H LIM homeobox transcription factor 1 alpha gene taxon:9606 20260519 ClinVar RGD 1312426 LMX1A HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:152999186 H LIM homeobox transcription factor 1 alpha gene taxon:9606 20260519 ClinVar RGD 1312426 LMX1A HP:0005101 MIM:601412|RGD:8699517 IAGP H LIM homeobox transcription factor 1 alpha gene taxon:9606 20230821 HPO RGD 1312426 LMX1A HP:0100753 RGD:8554872 IAGP RGD:155794402 H LIM homeobox transcription factor 1 alpha gene taxon:9606 20230110 ClinVar RGD 1312429 RBPJL HP:0005978 RGD:8554872 IAGP RGD:13607314 H recombination signal binding protein for immunoglobulin kappa J region like gene taxon:9606 20210323 ClinVar RGD 1312429 RBPJL HP:0005978 RGD:8554872 IAGP RGD:13607317 H recombination signal binding protein for immunoglobulin kappa J region like gene taxon:9606 20210323 ClinVar RGD 1312429 RBPJL HP:0005978 RGD:8554872 IAGP RGD:13607322 H recombination signal binding protein for immunoglobulin kappa J region like gene taxon:9606 20210323 ClinVar RGD 1312429 RBPJL HP:0005978 RGD:8554872 IAGP RGD:13607326 H recombination signal binding protein for immunoglobulin kappa J region like gene taxon:9606 20210323 ClinVar RGD 1312429 RBPJL HP:0005978 RGD:8554872 IAGP RGD:13607329 H recombination signal binding protein for immunoglobulin kappa J region like gene taxon:9606 20210323 ClinVar RGD 1312429 RBPJL HP:0005978 RGD:8554872 IAGP RGD:13607333 H recombination signal binding protein for immunoglobulin kappa J region like gene taxon:9606 20210323 ClinVar RGD 1312429 RBPJL HP:0005978 RGD:8554872 IAGP RGD:13607338 H recombination signal binding protein for immunoglobulin kappa J region like gene taxon:9606 20210323 ClinVar RGD 1312429 RBPJL HP:0005978 RGD:8554872 IAGP RGD:13607340 H recombination signal binding protein for immunoglobulin kappa J region like gene taxon:9606 20210323 ClinVar RGD 1312429 RBPJL HP:0005978 RGD:8554872 IAGP RGD:13607390 H recombination signal binding protein for immunoglobulin kappa J region like gene taxon:9606 20210323 ClinVar RGD 1312431 FBXO42 HP:0001402 RGD:8554872 IAGP RGD:714077264 H F-box protein 42 gene taxon:9606 20260519 ClinVar RGD 1312431 FBXO42 HP:0100242 RGD:8554872 IAGP RGD:713477618 H F-box protein 42 gene taxon:9606 20260519 ClinVar RGD 1312431 FBXO42 HP:0100526 RGD:8554872 IAGP RGD:713475951 H F-box protein 42 gene taxon:9606 20260519 ClinVar RGD 1312431 FBXO42 HP:0100526 RGD:8554872 IAGP RGD:713476341 H F-box protein 42 gene taxon:9606 20260519 ClinVar RGD 1312431 FBXO42 HP:0100526 RGD:8554872 IAGP RGD:713476484 H F-box protein 42 gene taxon:9606 20260519 ClinVar RGD 1312433 LACTB HP:0001402 RGD:8554872 IAGP RGD:713354716 H lactamase beta gene taxon:9606 20260519 ClinVar RGD 1312433 LACTB HP:0001402 RGD:8554872 IAGP RGD:713354724 H lactamase beta gene taxon:9606 20260519 ClinVar RGD 1312433 LACTB HP:0002861 RGD:8554872 IAGP RGD:713759076 H lactamase beta gene taxon:9606 20260519 ClinVar RGD 1312433 LACTB HP:0005181 RGD:8554872 IAGP RGD:713708162 H lactamase beta gene taxon:9606 20260519 ClinVar RGD 1312433 LACTB HP:0010874 RGD:8554872 IAGP RGD:713708162 H lactamase beta gene taxon:9606 20260519 ClinVar RGD 1312433 LACTB HP:0033678 RGD:8554872 IAGP RGD:713708162 H lactamase beta gene taxon:9606 20260519 ClinVar RGD 1312433 LACTB HP:0100522 RGD:8554872 IAGP RGD:713759042 H lactamase beta gene taxon:9606 20260519 ClinVar RGD 1312435 SERPINA9 HP:0001402 RGD:8554872 IAGP RGD:713957091 H serpin family A member 9 gene taxon:9606 20260519 ClinVar RGD 1312435 SERPINA9 HP:0012126 RGD:8554872 IAGP RGD:713957091 H serpin family A member 9 gene taxon:9606 20260519 ClinVar RGD 1312435 SERPINA9 HP:0100526 RGD:8554872 IAGP RGD:713957091 H serpin family A member 9 gene taxon:9606 20260519 ClinVar RGD 1312438 BFAR HP:0012126 RGD:8554872 IAGP RGD:713961132 H bifunctional apoptosis regulator gene taxon:9606 20260519 ClinVar RGD 1312438 BFAR HP:0012126 RGD:8554872 IAGP RGD:713961136 H bifunctional apoptosis regulator gene taxon:9606 20260519 ClinVar RGD 1312438 BFAR HP:0100242 RGD:8554872 IAGP RGD:714035162 H bifunctional apoptosis regulator gene taxon:9606 20260519 ClinVar RGD 1312440 GCFC2 HP:0001402 RGD:8554872 IAGP RGD:714263977 H GC-rich sequence DNA-binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1312440 GCFC2 HP:0002861 RGD:8554872 IAGP RGD:714044934 H GC-rich sequence DNA-binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1312440 GCFC2 HP:0003003 RGD:8554872 IAGP RGD:713676432 H GC-rich sequence DNA-binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1312440 GCFC2 HP:0004808 RGD:8554872 IAGP RGD:714044926 H GC-rich sequence DNA-binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1312440 GCFC2 HP:0006725 RGD:8554872 IAGP RGD:713676414 H GC-rich sequence DNA-binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1312440 GCFC2 HP:0006770 RGD:8554872 IAGP RGD:714114490 H GC-rich sequence DNA-binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1312440 GCFC2 HP:0012126 RGD:8554872 IAGP RGD:713522462 H GC-rich sequence DNA-binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1312440 GCFC2 HP:0012126 RGD:8554872 IAGP RGD:713522479 H GC-rich sequence DNA-binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1312440 GCFC2 HP:0100522 RGD:8554872 IAGP RGD:713522445 H GC-rich sequence DNA-binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1312440 GCFC2 HP:0100526 RGD:8554872 IAGP RGD:713522445 H GC-rich sequence DNA-binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1312440 GCFC2 HP:0100526 RGD:8554872 IAGP RGD:713676447 H GC-rich sequence DNA-binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1312440 GCFC2 HP:0100526 RGD:8554872 IAGP RGD:713676463 H GC-rich sequence DNA-binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1312445 APBB1IP HP:0004808 RGD:8554872 IAGP RGD:713778696 H amyloid beta precursor protein binding family B member 1 interacting protein gene taxon:9606 20260707 ClinVar RGD 1312445 APBB1IP HP:0011797 RGD:8554872 IAGP RGD:713785405 H amyloid beta precursor protein binding family B member 1 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312445 APBB1IP HP:0012126 RGD:8554872 IAGP RGD:713740496 H amyloid beta precursor protein binding family B member 1 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312445 APBB1IP HP:0100242 RGD:8554872 IAGP RGD:713388108 H amyloid beta precursor protein binding family B member 1 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312445 APBB1IP HP:0100242 RGD:8554872 IAGP RGD:713778696 H amyloid beta precursor protein binding family B member 1 interacting protein gene taxon:9606 20260707 ClinVar RGD 1312445 APBB1IP HP:0100526 RGD:8554872 IAGP RGD:713388025 H amyloid beta precursor protein binding family B member 1 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312445 APBB1IP HP:0100526 RGD:8554872 IAGP RGD:713388158 H amyloid beta precursor protein binding family B member 1 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312445 APBB1IP HP:0100526 RGD:8554872 IAGP RGD:713388184 H amyloid beta precursor protein binding family B member 1 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312445 APBB1IP HP:0100526 RGD:8554872 IAGP RGD:713778696 H amyloid beta precursor protein binding family B member 1 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312447 MRPL15 HP:0001402 RGD:8554872 IAGP RGD:713501183 H mitochondrial ribosomal protein L15 gene taxon:9606 20260519 ClinVar RGD 1312447 MRPL15 HP:0007716 RGD:8554872 IAGP RGD:713501183 H mitochondrial ribosomal protein L15 gene taxon:9606 20260519 ClinVar RGD 1312449 B3GALNT1 HP:0000006 MIM:111400|RGD:8699517 IAGP H beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group) gene taxon:9606 20260209 HPO RGD 1312449 B3GALNT1 HP:0004808 RGD:8554872 IAGP RGD:405276163 H beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group) gene taxon:9606 20260519 ClinVar RGD 1312449 B3GALNT1 HP:0006770 RGD:8554872 IAGP RGD:405276163 H beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group) gene taxon:9606 20260519 ClinVar RGD 1312449 B3GALNT1 HP:0010970 MIM:111400|RGD:8699517 IAGP H beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group) gene taxon:9606 20260209 HPO RGD 1312449 B3GALNT1 HP:0012126 RGD:8554872 IAGP RGD:405276163 H beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group) gene taxon:9606 20260519 ClinVar RGD 1312449 B3GALNT1 HP:0100522 RGD:8554872 IAGP RGD:405276163 H beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group) gene taxon:9606 20260519 ClinVar RGD 1312449 B3GALNT1 HP:0100526 RGD:8554872 IAGP RGD:405276163 H beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group) gene taxon:9606 20260519 ClinVar RGD 1312451 ZNF184 HP:0001402 RGD:8554872 IAGP RGD:713558332 H zinc finger protein 184 gene taxon:9606 20260707 ClinVar RGD 1312451 ZNF184 HP:0001402 RGD:8554872 IAGP RGD:714079934 H zinc finger protein 184 gene taxon:9606 20260519 ClinVar RGD 1312451 ZNF184 HP:0002861 RGD:8554872 IAGP RGD:713737066 H zinc finger protein 184 gene taxon:9606 20260519 ClinVar RGD 1312451 ZNF184 HP:0002861 RGD:8554872 IAGP RGD:713737112 H zinc finger protein 184 gene taxon:9606 20260519 ClinVar RGD 1312451 ZNF184 HP:0012125 RGD:8554872 IAGP RGD:9686974 H zinc finger protein 184 gene taxon:9606 20250708 ClinVar RGD 1312451 ZNF184 HP:0012126 RGD:8554872 IAGP RGD:713558332 H zinc finger protein 184 gene taxon:9606 20260519 ClinVar RGD 1312451 ZNF184 HP:0012126 RGD:8554872 IAGP RGD:713558354 H zinc finger protein 184 gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0000007 MIM:251880|MIM:617068|MIM:617070|PMID:11687800|PMID:23043144|PMID:26874653|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0000252 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0000407 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0000486 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0000508 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0000518 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0000549 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0000590 MIM:617070|ORPHA:329314|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0000639 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0000648 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0000716 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0000726 MIM:617070|ORPHA:329314|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0000952 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001250 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001251 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001252 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0001254 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0001265 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0001271 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0001298 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001298 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0001315 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0001347 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001396 PMID:25741868|RGD:8554872 IAGP RGD:12900892 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0001397 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001399 MIM:251880|PMID:11687800|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0001399 PMID:25741868|RGD:8554872 IAGP RGD:12900892 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0001404 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001405 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001409 MIM:251880|MIM:617068|PMID:26874653|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0001413 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001488 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001508 MIM:251880|PMID:11687800|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0001510 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001511 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0001541 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001612 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0001618 MIM:617070|ORPHA:329314|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0001649 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0001744 MIM:251880|MIM:617068|PMID:26874653|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0001873 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001873 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0001942 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0001943 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0001943 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0002013 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0002015 MIM:617070|ORPHA:329314|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0002033 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0002040 MIM:617068|PMID:26874653|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0002045 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0002059 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0002059 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13612424 H deoxyguanosine kinase gene taxon:9606 20250729 ClinVar RGD 1312453 DGUOK HP:0002059 PMID:25741868|RGD:8554872 IAGP RGD:13612420 H deoxyguanosine kinase gene taxon:9606 20210323 ClinVar RGD 1312453 DGUOK HP:0002120 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0002151 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0002151 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0002154 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0002240 MIM:251880|MIM:617068|PMID:26874653|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0002460 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0002904 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0002909 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0002910 MIM:251880|MIM:617068|PMID:26874653|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0002928 PMID:25741868|RGD:8554872 IAGP RGD:12900892 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0003073 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0003128 MIM:251880|PMID:11687800|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0003128 PMID:25741868|RGD:8554872 IAGP RGD:12900892 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0003200 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0003201 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0003202 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0003236 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0003256 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0003325 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0003326 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0003390 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0003394 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0003477 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0003558 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0003584 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0003593 MIM:251880|PMID:11687800|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0003596 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0003623 MIM:251880|PMID:11687800|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0003688 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0003689 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0003701 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0003749 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0003781 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0003797 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0006254 MIM:251880|PMID:11687800|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0006581 MIM:251880|PMID:11687800|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0007340 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0008347 MIM:251880|PMID:11687800|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0008615 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0008872 MIM:251880|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0009141 PMID:25741868|RGD:8554872 IAGP RGD:12900892 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0009800 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0011462 MIM:617070|PMID:23043144|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0011923 MIM:251880|PMID:11687800|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0011924 MIM:251880|PMID:11687800|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20250912 HPO RGD 1312453 DGUOK HP:0011968 PMID:25741868|RGD:8554872 IAGP RGD:401720850 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0012103 PMID:25741868|RGD:8554872 IAGP RGD:12900892 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0025406 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312453 DGUOK HP:0100526 PMID:17073823|PMID:17452231|PMID:17576681|PMID:18205204|PMID:24642831|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:10410172 H deoxyguanosine kinase gene taxon:9606 20260519 ClinVar RGD 1312453 DGUOK HP:0100543 ORPHA:329314|RGD:8699517 IAGP H deoxyguanosine kinase gene taxon:9606 20230821 HPO RGD 1312455 GGA2 HP:0001402 RGD:8554872 IAGP RGD:713355748 H golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312455 GGA2 HP:0002861 RGD:8554872 IAGP RGD:714044276 H golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312455 GGA2 HP:0002861 RGD:8554872 IAGP RGD:714044285 H golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312455 GGA2 HP:0004808 RGD:8554872 IAGP RGD:713619183 H golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312455 GGA2 HP:0004808 RGD:8554872 IAGP RGD:713631001 H golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312455 GGA2 HP:0004808 RGD:8554872 IAGP RGD:713631005 H golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312455 GGA2 HP:0006770 RGD:8554872 IAGP RGD:714044254 H golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312455 GGA2 HP:0011797 RGD:8554872 IAGP RGD:713629512 H golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312455 GGA2 HP:0100242 RGD:8554872 IAGP RGD:713619183 H golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312455 GGA2 HP:0100242 RGD:8554872 IAGP RGD:714044261 H golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312459 FRMD3 HP:0002861 RGD:8554872 IAGP RGD:713771341 H FERM domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312459 FRMD3 HP:0004808 RGD:8554872 IAGP RGD:714260216 H FERM domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312459 FRMD3 HP:0011797 RGD:8554872 IAGP RGD:714258251 H FERM domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312459 FRMD3 HP:0012126 RGD:8554872 IAGP RGD:713729007 H FERM domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312459 FRMD3 HP:0030153 RGD:8554872 IAGP RGD:713771297 H FERM domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312459 FRMD3 HP:0100242 RGD:8554872 IAGP RGD:713771196 H FERM domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312459 FRMD3 HP:0100242 RGD:8554872 IAGP RGD:714260225 H FERM domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312459 FRMD3 HP:0100522 RGD:8554872 IAGP RGD:713729007 H FERM domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312459 FRMD3 HP:0100522 RGD:8554872 IAGP RGD:713771136 H FERM domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312462 TLL2 HP:0003445 PMID:25741868|RGD:8554872 IAGP RGD:15112314 H tolloid like 2 gene taxon:9606 20260519 ClinVar RGD 1312462 TLL2 HP:0003445 PMID:25741868|RGD:8554872 IAGP RGD:15112318 H tolloid like 2 gene taxon:9606 20260519 ClinVar RGD 1312462 TLL2 HP:0004808 RGD:8554872 IAGP RGD:713784707 H tolloid like 2 gene taxon:9606 20260519 ClinVar RGD 1312462 TLL2 HP:0004808 RGD:8554872 IAGP RGD:713787881 H tolloid like 2 gene taxon:9606 20260519 ClinVar RGD 1312462 TLL2 HP:0006725 RGD:8554872 IAGP RGD:713396139 H tolloid like 2 gene taxon:9606 20260519 ClinVar RGD 1312462 TLL2 HP:0006770 RGD:8554872 IAGP RGD:713396086 H tolloid like 2 gene taxon:9606 20260519 ClinVar RGD 1312462 TLL2 HP:0100242 RGD:8554872 IAGP RGD:714012978 H tolloid like 2 gene taxon:9606 20260519 ClinVar RGD 1312462 TLL2 HP:0100526 RGD:8554872 IAGP RGD:713396170 H tolloid like 2 gene taxon:9606 20260519 ClinVar RGD 1312464 KRT12 HP:0000006 MIM:122100|PMID:9171831|RGD:8699517 IAGP H keratin 12 gene taxon:9606 20250912 HPO RGD 1312464 KRT12 HP:0000613 MIM:122100|RGD:8699517 IAGP H keratin 12 gene taxon:9606 20230821 HPO RGD 1312464 KRT12 HP:0001131 MIM:122100|PMID:2217484|RGD:8699517 IAGP H keratin 12 gene taxon:9606 20250912 HPO RGD 1312464 KRT12 HP:0001718 PMID:20577595|RGD:8554872 IAGP RGD:8622003 H keratin 12 gene taxon:9606 20260519 ClinVar RGD 1312464 KRT12 HP:0003680 MIM:122100|PMID:2217484|RGD:8699517 IAGP H keratin 12 gene taxon:9606 20250912 HPO RGD 1312464 KRT12 HP:0007663 MIM:122100|RGD:8699517 IAGP H keratin 12 gene taxon:9606 20230821 HPO RGD 1312464 KRT12 HP:0007856 MIM:122100|RGD:8699517 IAGP H keratin 12 gene taxon:9606 20230821 HPO RGD 1312464 KRT12 HP:0009926 MIM:122100|RGD:8699517 IAGP H keratin 12 gene taxon:9606 20230821 HPO RGD 1312467 PITPNC1 HP:0001402 RGD:8554872 IAGP RGD:713731069 H phosphatidylinositol transfer protein cytoplasmic 1 gene taxon:9606 20260519 ClinVar RGD 1312467 PITPNC1 HP:0011797 RGD:8554872 IAGP RGD:713702404 H phosphatidylinositol transfer protein cytoplasmic 1 gene taxon:9606 20260519 ClinVar RGD 1312467 PITPNC1 HP:0100522 RGD:8554872 IAGP RGD:714265957 H phosphatidylinositol transfer protein cytoplasmic 1 gene taxon:9606 20260519 ClinVar RGD 1312467 PITPNC1 HP:0100526 RGD:8554872 IAGP RGD:714050232 H phosphatidylinositol transfer protein cytoplasmic 1 gene taxon:9606 20260519 ClinVar RGD 1312473 TMC4 HP:0001402 RGD:8554872 IAGP RGD:713366670 H transmembrane channel like 4 gene taxon:9606 20260519 ClinVar RGD 1312473 TMC4 HP:0006770 RGD:8554872 IAGP RGD:713876116 H transmembrane channel like 4 gene taxon:9606 20260519 ClinVar RGD 1312473 TMC4 HP:0012126 RGD:8554872 IAGP RGD:713767901 H transmembrane channel like 4 gene taxon:9606 20260519 ClinVar RGD 1312473 TMC4 HP:0100242 RGD:8554872 IAGP RGD:713876003 H transmembrane channel like 4 gene taxon:9606 20260519 ClinVar RGD 1312473 TMC4 HP:0100242 RGD:8554872 IAGP RGD:713876022 H transmembrane channel like 4 gene taxon:9606 20260519 ClinVar RGD 1312473 TMC4 HP:0100526 RGD:8554872 IAGP RGD:713875988 H transmembrane channel like 4 gene taxon:9606 20260519 ClinVar RGD 1312473 TMC4 HP:0100526 RGD:8554872 IAGP RGD:713876136 H transmembrane channel like 4 gene taxon:9606 20260519 ClinVar RGD 1312475 FCHSD2 HP:0002861 RGD:8554872 IAGP RGD:713404259 H FCH and double SH3 domains 2 gene taxon:9606 20260519 ClinVar RGD 1312475 FCHSD2 HP:0002861 RGD:8554872 IAGP RGD:713781948 H FCH and double SH3 domains 2 gene taxon:9606 20260519 ClinVar RGD 1312475 FCHSD2 HP:0004808 RGD:8554872 IAGP RGD:714099807 H FCH and double SH3 domains 2 gene taxon:9606 20260519 ClinVar RGD 1312475 FCHSD2 HP:0011797 RGD:8554872 IAGP RGD:714103009 H FCH and double SH3 domains 2 gene taxon:9606 20260519 ClinVar RGD 1312475 FCHSD2 HP:0012126 RGD:8554872 IAGP RGD:714026006 H FCH and double SH3 domains 2 gene taxon:9606 20260519 ClinVar RGD 1312475 FCHSD2 HP:0100242 RGD:8554872 IAGP RGD:714026019 H FCH and double SH3 domains 2 gene taxon:9606 20260519 ClinVar RGD 1312475 FCHSD2 HP:0100522 RGD:8554872 IAGP RGD:713404282 H FCH and double SH3 domains 2 gene taxon:9606 20260519 ClinVar RGD 1312475 FCHSD2 HP:0100522 RGD:8554872 IAGP RGD:713404414 H FCH and double SH3 domains 2 gene taxon:9606 20260519 ClinVar RGD 1312475 FCHSD2 HP:0100526 RGD:8554872 IAGP RGD:713404198 H FCH and double SH3 domains 2 gene taxon:9606 20260519 ClinVar RGD 1312475 FCHSD2 HP:0100526 RGD:8554872 IAGP RGD:713404305 H FCH and double SH3 domains 2 gene taxon:9606 20260519 ClinVar RGD 1312477 RBMS2 HP:0004808 RGD:8554872 IAGP RGD:713652927 H RNA binding motif single stranded interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312477 RBMS2 HP:0004808 RGD:8554872 IAGP RGD:713652936 H RNA binding motif single stranded interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312477 RBMS2 HP:0007716 RGD:8554872 IAGP RGD:714048985 H RNA binding motif single stranded interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312477 RBMS2 HP:0012126 RGD:8554872 IAGP RGD:713794977 H RNA binding motif single stranded interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312477 RBMS2 HP:0100242 RGD:8554872 IAGP RGD:714048873 H RNA binding motif single stranded interacting protein 2 gene taxon:9606 20260707 ClinVar RGD 1312479 LOXHD1 HP:0000007 MIM:613079|PMID:19732867|RGD:8699517 IAGP H lipoxygenase homology PLAT domains 1 gene taxon:9606 20250912 HPO RGD 1312479 LOXHD1 HP:0000218 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000218 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000325 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000325 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000360 MIM:613079|PMID:19732867|RGD:8699517 IAGP H lipoxygenase homology PLAT domains 1 gene taxon:9606 20250912 HPO RGD 1312479 LOXHD1 HP:0000360 PMID:19732867|PMID:21465660|PMID:22975204|PMID:23226338|PMID:24033266|PMID:25741868|PMID:25792669|PMID:28492532|PMID:30311386|PMID:31547530|PMID:33297549|RGD:8554872 IAGP RGD:9689552 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:16199547|PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:28000701|PMID:28492532|PMID:29676012|PMID:30311386|PMID:34440452|PMID:37438890|RGD:8554872 IAGP RGD:13612683 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:16199547|PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:28492532|RGD:8554872 IAGP RGD:151728912 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:19732867|PMID:21465660|PMID:22341973|PMID:23897863|PMID:24033266|PMID:25333069|PMID:25741868|PMID:25792669|PMID:28492532|PMID:33111345|RGD:8554872 IAGP RGD:8568718 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260616 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:26969326|PMID:28492532|PMID:30311386|PMID:32991204|RGD:8554872 IAGP RGD:126908924 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:26969326|PMID:28492532|RGD:8554872 IAGP RGD:11633263 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:28492532|PMID:30311386|PMID:34753855|RGD:8554872 IAGP RGD:126910471 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:19732867|PMID:21465660|PMID:25792669|PMID:28492532|PMID:30311386|RGD:8554872 IAGP RGD:126910472 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20240312 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:22341973|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:36147510|RGD:8554872 IAGP RGD:8610811 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260707 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:23226338|PMID:25741868|RGD:8554872 IAGP RGD:151728090 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:24033266|PMID:25741868|PMID:26969326|PMID:28000701|PMID:28492532|PMID:29676012|RGD:8554872 IAGP RGD:13539282 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:24033266|PMID:25741868|PMID:28492532|PMID:28984810|PMID:35711932|RGD:8554872 IAGP RGD:13527950 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|RGD:8554872 IAGP RGD:11096084 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260707 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:24033266|PMID:26467025|PMID:28492532|PMID:29799290|PMID:30311386|RGD:8554872 IAGP RGD:9687840 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:24033266|PMID:28492532|PMID:29309402|PMID:30311386|RGD:8554872 IAGP RGD:11631631 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20230214 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:24033266|PMID:28492532|PMID:30311386|RGD:8554872 IAGP RGD:9691794 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20230214 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:13471099 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20210323 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:151348826 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:151349134 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:596944604 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20250107 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:29676012|PMID:30311386|PMID:37438890|RGD:8554872 IAGP RGD:126910599 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20250408 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:30311386|RGD:8554872 IAGP RGD:126908925 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:30311386|RGD:8554872 IAGP RGD:126910507 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20210511 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:30311386|RGD:8554872 IAGP RGD:126910544 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20210511 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:30311386|RGD:8554872 IAGP RGD:126910602 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20210511 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:30311386|RGD:8554872 IAGP RGD:126910738 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20210511 ClinVar RGD 1312479 LOXHD1 HP:0000365 PMID:30311386|RGD:8554872 IAGP RGD:21404711 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000365 RGD:8554872 IAGP RGD:714004486 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000369 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000369 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000408 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000408 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000410 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000410 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000470 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000470 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000496 PMID:19732867|PMID:21465660|PMID:22975204|PMID:23226338|PMID:24033266|PMID:25741868|PMID:25792669|PMID:28492532|PMID:30311386|PMID:31547530|PMID:33297549|RGD:8554872 IAGP RGD:9689552 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000539 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000539 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000545 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000545 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000708 PMID:19732867|PMID:21465660|PMID:22341973|PMID:23897863|PMID:24033266|PMID:25333069|PMID:25741868|PMID:25792669|PMID:28492532|PMID:33111345|RGD:8554872 IAGP RGD:8568718 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260616 ClinVar RGD 1312479 LOXHD1 HP:0000767 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000767 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000772 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000772 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000924 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0000924 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001003 PMID:24033266|PMID:26467025|PMID:28492532|PMID:29799290|PMID:30311386|RGD:8554872 IAGP RGD:9687840 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001003 PMID:30311386|RGD:8554872 IAGP RGD:21404711 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001245 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001245 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001250 PMID:19732867|PMID:21465660|PMID:22341973|PMID:23897863|PMID:24033266|PMID:25333069|PMID:25741868|PMID:25792669|PMID:28492532|PMID:33111345|RGD:8554872 IAGP RGD:8568718 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260616 ClinVar RGD 1312479 LOXHD1 HP:0001256 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001256 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001263 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:13533464 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001263 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:13539611 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001276 PMID:19732867|PMID:21465660|PMID:22975204|PMID:23226338|PMID:24033266|PMID:25741868|PMID:25792669|PMID:28492532|PMID:30311386|PMID:31547530|PMID:33297549|RGD:8554872 IAGP RGD:9689552 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001276 PMID:24033266|PMID:25741868|PMID:25938503|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:8610799 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001622 PMID:19732867|PMID:21465660|PMID:22975204|PMID:23226338|PMID:24033266|PMID:25741868|PMID:25792669|PMID:28492532|PMID:30311386|PMID:31547530|PMID:33297549|RGD:8554872 IAGP RGD:9689552 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001655 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001655 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001751 MIM:613079|PMID:19732867|RGD:8699517 IAGP H lipoxygenase homology PLAT domains 1 gene taxon:9606 20250912 HPO RGD 1312479 LOXHD1 HP:0001757 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001757 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001875 PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:26969326|PMID:28492532|RGD:8554872 IAGP RGD:11633263 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001875 PMID:24033266|PMID:25741868|PMID:26969326|PMID:28000701|PMID:28492532|PMID:29676012|RGD:8554872 IAGP RGD:13539282 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001903 PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:26969326|PMID:28492532|RGD:8554872 IAGP RGD:11633263 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0001903 PMID:24033266|PMID:25741868|PMID:26969326|PMID:28000701|PMID:28492532|PMID:29676012|RGD:8554872 IAGP RGD:13539282 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0002032 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0002032 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0002553 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0002553 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0002650 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0002650 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0002714 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0002714 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0002716 PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:26969326|PMID:28492532|RGD:8554872 IAGP RGD:11633263 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0002716 PMID:24033266|PMID:25741868|PMID:26969326|PMID:28000701|PMID:28492532|PMID:29676012|RGD:8554872 IAGP RGD:13539282 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0002937 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0002937 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0003003 RGD:8554872 IAGP RGD:713747047 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0004322 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0004322 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0004467 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0004467 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0004808 RGD:8554872 IAGP RGD:150511653 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0004808 RGD:8554872 IAGP RGD:714187931 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0004808 RGD:8554872 IAGP RGD:714191328 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0007018 PMID:19732867|PMID:21465660|PMID:22341973|PMID:23897863|PMID:24033266|PMID:25333069|PMID:25741868|PMID:25792669|PMID:28492532|PMID:33111345|RGD:8554872 IAGP RGD:8568718 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260616 ClinVar RGD 1312479 LOXHD1 HP:0008504 PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:28492532|RGD:8554872 IAGP RGD:26904530 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008504 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008504 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008527 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008527 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008573 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008573 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008587 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008587 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008619 MIM:613079|PMID:19732867|RGD:8699517 IAGP H lipoxygenase homology PLAT domains 1 gene taxon:9606 20250912 HPO RGD 1312479 LOXHD1 HP:0008619 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008619 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008625 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008625 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008872 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008872 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008897 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0008897 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0011003 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0011003 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0011389 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0011389 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0011471 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0011471 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0011474 PMID:19732867|PMID:21465660|PMID:22975204|PMID:23226338|PMID:24033266|PMID:25741868|PMID:25792669|PMID:28492532|PMID:30311386|PMID:31547530|PMID:33297549|RGD:8554872 IAGP RGD:9689552 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0011474 PMID:25741868|RGD:8554872 IAGP RGD:150408665 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0011474 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0011474 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0011476 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0011476 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0011649 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0011649 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0012450 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0012450 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0012832 PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:28492532|RGD:8554872 IAGP RGD:26904530 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0025573 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0025573 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0030680 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:9689551 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0030680 RGD:8554872 IAGP RGD:713709315 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0031624 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0031624 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0031730 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0031730 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0100021 PMID:19732867|PMID:21465660|PMID:22975204|PMID:23226338|PMID:24033266|PMID:25741868|PMID:25792669|PMID:28492532|PMID:30311386|PMID:31547530|PMID:33297549|RGD:8554872 IAGP RGD:9689552 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0100526 RGD:8554872 IAGP RGD:713747182 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0100526 RGD:8554872 IAGP RGD:713747260 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0500066 RGD:8554872 IAGP RGD:405745531 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312479 LOXHD1 HP:0500066 RGD:8554872 IAGP RGD:405853614 H lipoxygenase homology PLAT domains 1 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0002665 RGD:8554872 IAGP RGD:713510307 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0002861 RGD:8554872 IAGP RGD:713485450 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0002861 RGD:8554872 IAGP RGD:713485580 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0002861 RGD:8554872 IAGP RGD:713485633 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0003003 RGD:8554872 IAGP RGD:713485600 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0004808 RGD:8554872 IAGP RGD:713505000 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0004808 RGD:8554872 IAGP RGD:713510345 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0004808 RGD:8554872 IAGP RGD:713784205 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0006770 RGD:8554872 IAGP RGD:713485428 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0006770 RGD:8554872 IAGP RGD:713505019 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0011797 RGD:8554872 IAGP RGD:714254094 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0012126 RGD:8554872 IAGP RGD:713715915 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0012126 RGD:8554872 IAGP RGD:714254162 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0030153 RGD:8554872 IAGP RGD:713485557 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0030153 RGD:8554872 IAGP RGD:713715856 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0030359 RGD:8554872 IAGP RGD:713485677 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0100522 RGD:8554872 IAGP RGD:713485704 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0100522 RGD:8554872 IAGP RGD:713485799 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312480 FKBP15 HP:0100526 RGD:8554872 IAGP RGD:713485600 H FKBP prolyl isomerase family member 15 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0000007 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0000168 RGD:8554872 IAGP RGD:714110713 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0000212 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0000218 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0000252 RGD:8554872 IAGP RGD:714110713 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0000276 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0000278 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0000319 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0000483 RGD:8554872 IAGP RGD:714110713 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0000486 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0000488 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0000508 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0000540 RGD:8554872 IAGP RGD:714110713 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0000544 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0000648 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0000648 RGD:8554872 IAGP RGD:714110713 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0000707 RGD:8554872 IAGP RGD:714110713 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0000729 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0000742 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0000750 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0000767 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0001249 RGD:8554872 IAGP RGD:714110713 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0001250 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0001250 RGD:8554872 IAGP RGD:714110713 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0001251 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0001260 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0001266 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0001298 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0001321 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0001324 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0001332 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0001337 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0001344 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0001402 RGD:8554872 IAGP RGD:714264334 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0001510 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0001611 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0001761 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0002015 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0002019 RGD:8554872 IAGP RGD:714110713 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0002059 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0002861 RGD:8554872 IAGP RGD:713999420 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0002861 RGD:8554872 IAGP RGD:714191144 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0002861 RGD:8554872 IAGP RGD:714191150 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0002861 RGD:8554872 IAGP RGD:714191156 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0003593 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0003763 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0003819 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0004209 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0004619 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0004808 RGD:8554872 IAGP RGD:714046266 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0006770 RGD:8554872 IAGP RGD:150338755 H autophagy related 7 gene taxon:9606 20260602 ClinVar RGD 1312481 ATG7 HP:0006770 RGD:8554872 IAGP RGD:714191530 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0008209 PMID:25741868|RGD:8554872 IAGP RGD:40903951 H autophagy related 7 gene taxon:9606 20210323 ClinVar RGD 1312481 ATG7 HP:0008619 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0008936 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0011797 RGD:8554872 IAGP RGD:714046286 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0011968 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0012126 RGD:8554872 IAGP RGD:713525922 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0012126 RGD:8554872 IAGP RGD:713525933 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0030359 RGD:8554872 IAGP RGD:714191058 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0031936 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0034007 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0100021 RGD:8554872 IAGP RGD:714110713 H autophagy related 7 gene taxon:9606 20260519 ClinVar RGD 1312481 ATG7 HP:0100660 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312481 ATG7 HP:0100753 MIM:619422|PMID:34161705|RGD:8699517 IAGP H autophagy related 7 gene taxon:9606 20250912 HPO RGD 1312483 HECA HP:0100526 RGD:8554872 IAGP RGD:713710638 H HECA ribonucleoprotein granule regulator gene taxon:9606 20260519 ClinVar RGD 1312484 CDC23 HP:0001402 RGD:8554872 IAGP RGD:713456426 H cell division cycle 23 gene taxon:9606 20260519 ClinVar RGD 1312484 CDC23 HP:0006770 RGD:8554872 IAGP RGD:713456426 H cell division cycle 23 gene taxon:9606 20260519 ClinVar RGD 1312484 CDC23 HP:0100242 RGD:8554872 IAGP RGD:713879284 H cell division cycle 23 gene taxon:9606 20260519 ClinVar RGD 1312484 CDC23 HP:0100526 RGD:8554872 IAGP RGD:713879311 H cell division cycle 23 gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0000007 MIM:607143|PMID:11983712|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260209 HPO RGD 1312492 ALG12 HP:0000028 MIM:607143|ORPHA:79324|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0000028 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:127286083 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0000028 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11630164 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0000046 MIM:607143|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0000047 MIM:607143|ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250416 HPO RGD 1312492 ALG12 HP:0000054 MIM:607143|ORPHA:79324|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0000119 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0000219 MIM:607143|ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250416 HPO RGD 1312492 ALG12 HP:0000253 MIM:607143|ORPHA:79324|PMID:11983712|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0000276 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0000286 MIM:607143|ORPHA:79324|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260209 HPO RGD 1312492 ALG12 HP:0000322 MIM:607143|ORPHA:79324|PMID:12093361|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0000325 MIM:607143|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0000347 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0000365 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:127286083 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0000365 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11630164 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0000377 MIM:607143|ORPHA:79324|PMID:12093361|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0000407 MIM:607143|ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250416 HPO RGD 1312492 ALG12 HP:0000426 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0000445 MIM:607143|ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250416 HPO RGD 1312492 ALG12 HP:0000465 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:127286083 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0000465 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11630164 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0000470 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:127286083 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0000470 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11630164 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0000478 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0000486 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0000541 MIM:607143|ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250416 HPO RGD 1312492 ALG12 HP:0000750 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260209 HPO RGD 1312492 ALG12 HP:0000759 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0000773 MIM:607143|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0000969 MIM:607143|ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250416 HPO RGD 1312492 ALG12 HP:0001249 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260209 HPO RGD 1312492 ALG12 HP:0001250 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0001252 MIM:607143|ORPHA:79324|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260209 HPO RGD 1312492 ALG12 HP:0001254 MIM:607143|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0001263 MIM:607143|PMID:11983712|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260209 HPO RGD 1312492 ALG12 HP:0001290 MIM:607143|ORPHA:79324|PMID:11983712|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0001302 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0001321 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0001373 PMID:15639192|PMID:25019053|PMID:25741868|PMID:28492532|PMID:31481313|RGD:8554872 IAGP RGD:11522972 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0001373 PMID:15639192|PMID:25019053|PMID:28492532|PMID:31481313|RGD:8554872 IAGP RGD:11522978 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0001402 PMID:28492532|RGD:8554872 IAGP RGD:15165930 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0001508 MIM:607143|ORPHA:79324|PMID:11983712|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0001511 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260209 HPO RGD 1312492 ALG12 HP:0001518 MIM:607143|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0001561 MIM:607143|ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250416 HPO RGD 1312492 ALG12 HP:0001561 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:127286083 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0001561 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11630164 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0001582 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0001622 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0001643 MIM:607143|ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250416 HPO RGD 1312492 ALG12 HP:0001655 MIM:607143|ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250416 HPO RGD 1312492 ALG12 HP:0001762 MIM:607143|ORPHA:79324|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0001762 PMID:15639192|PMID:25019053|PMID:25741868|PMID:28492532|PMID:31481313|RGD:8554872 IAGP RGD:11522972 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0001762 PMID:15639192|PMID:25019053|PMID:28492532|PMID:31481313|RGD:8554872 IAGP RGD:11522978 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0001792 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0001852 MIM:607143|ORPHA:79324|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0001873 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0001929 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0001943 MIM:607143|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0001976 MIM:607143|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0001988 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0001999 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0002011 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0002020 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0002033 MIM:607143|PMID:11983712|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0002079 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0002098 MIM:607143|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0002119 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0002162 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0002194 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0002205 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0002257 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0002389 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0002566 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0002650 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20251023 HPO RGD 1312492 ALG12 HP:0002720 MIM:607143|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0002788 MIM:607143|PMID:11983712|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0002850 MIM:607143|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0002861 RGD:8554872 IAGP RGD:713765826 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0002901 MIM:607143|PMID:11983712|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0002902 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0002910 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0002984 MIM:607143|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0003026 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260209 HPO RGD 1312492 ALG12 HP:0003049 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0003073 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0003097 MIM:607143|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0003146 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0003186 MIM:607143|ORPHA:79324|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0003256 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0003316 MIM:607143|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0003593 MIM:607143|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0003623 MIM:607143|PMID:11983712|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0003642 MIM:607143|PMID:11983712|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0003645 MIM:607143|ORPHA:79324|PMID:12093361|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0004209 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0004315 MIM:607143|PMID:11983712|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0004808 RGD:8554872 IAGP RGD:714195866 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0004855 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0005543 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0005736 MIM:607143|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0005792 MIM:607143|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0006532 MIM:607143|ORPHA:79324|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0008151 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0008905 MIM:607143|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0008905 PMID:15639192|PMID:25019053|PMID:25741868|PMID:28492532|PMID:31481313|RGD:8554872 IAGP RGD:11522972 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0008905 PMID:15639192|PMID:25019053|PMID:28492532|PMID:31481313|RGD:8554872 IAGP RGD:11522978 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0009124 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0009623 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0010557 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0010976 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0011327 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0011344 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0011471 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0011623 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0011800 MIM:607143|ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250416 HPO RGD 1312492 ALG12 HP:0011849 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0011968 MIM:607143|ORPHA:79324|PMID:11983712|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0012126 PMID:28492532|RGD:8554872 IAGP RGD:14742780 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0012379 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0012385 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0012448 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0012766 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0020045 MIM:607143|PMID:12217961|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20250912 HPO RGD 1312492 ALG12 HP:0030353 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0040246 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0100242 PMID:28492532|RGD:8554872 IAGP RGD:11628316 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0100242 RGD:8554872 IAGP RGD:713765840 H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20260519 ClinVar RGD 1312492 ALG12 HP:0100776 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0100806 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0100807 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0200128 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0410018 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0410240 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0410242 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0410243 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0410263 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0410295 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312492 ALG12 HP:0410305 ORPHA:79324|RGD:8699517 IAGP H ALG12 alpha-1,6-mannosyltransferase gene taxon:9606 20230821 HPO RGD 1312494 ADGRA2 HP:0001402 RGD:8554872 IAGP RGD:714086008 H adhesion G protein-coupled receptor A2 gene taxon:9606 20260519 ClinVar RGD 1312494 ADGRA2 HP:0002888 RGD:8554872 IAGP RGD:13506448 H adhesion G protein-coupled receptor A2 gene taxon:9606 20210323 ClinVar RGD 1312494 ADGRA2 HP:0004808 RGD:8554872 IAGP RGD:713608374 H adhesion G protein-coupled receptor A2 gene taxon:9606 20260519 ClinVar RGD 1312494 ADGRA2 HP:0006770 RGD:8554872 IAGP RGD:714049884 H adhesion G protein-coupled receptor A2 gene taxon:9606 20260519 ClinVar RGD 1312494 ADGRA2 HP:0006770 RGD:8554872 IAGP RGD:714049893 H adhesion G protein-coupled receptor A2 gene taxon:9606 20260519 ClinVar RGD 1312494 ADGRA2 HP:0100242 RGD:8554872 IAGP RGD:713494160 H adhesion G protein-coupled receptor A2 gene taxon:9606 20260519 ClinVar RGD 1312494 ADGRA2 HP:0100242 RGD:8554872 IAGP RGD:714049900 H adhesion G protein-coupled receptor A2 gene taxon:9606 20260519 ClinVar RGD 1312494 ADGRA2 HP:0100242 RGD:8554872 IAGP RGD:714086015 H adhesion G protein-coupled receptor A2 gene taxon:9606 20260519 ClinVar RGD 1312494 ADGRA2 HP:0100522 RGD:8554872 IAGP RGD:713675037 H adhesion G protein-coupled receptor A2 gene taxon:9606 20260519 ClinVar RGD 1312494 ADGRA2 HP:0100522 RGD:8554872 IAGP RGD:714049875 H adhesion G protein-coupled receptor A2 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000006 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0000083 PMID:25741868|RGD:8554872 IAGP RGD:597832853 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000118 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000126 RGD:8554872 IAGP RGD:155643137 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000154 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0000158 RGD:8554872 IAGP RGD:153301263 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000219 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0000230 PMID:25741868|PMID:35982160|PMID:38958063|RGD:8554872 IAGP RGD:153348587 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000234 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000252 PMID:25741868|PMID:35982160|PMID:38958063|RGD:8554872 IAGP RGD:153348587 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:155912022 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:401828959 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000256 PMID:25741868|RGD:8554872 IAGP RGD:598233043 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000316 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0000316 PMID:25741868|RGD:8554872 IAGP RGD:150337878 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000316 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000319 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0000407 RGD:8554872 IAGP RGD:40886922 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000426 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0000431 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0000460 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000478 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000486 RGD:8554872 IAGP RGD:151662355 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000505 PMID:25741868|RGD:8554872 IAGP RGD:597832853 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:597832853 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000545 PMID:25741868|RGD:8554872 IAGP RGD:597832853 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000548 PMID:25741868|RGD:8554872 IAGP RGD:597832853 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000565 PMID:25741868|RGD:8554872 IAGP RGD:329954423 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000629 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0000664 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:596927487 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000708 PMID:25741868|RGD:8554872 IAGP RGD:41407733 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000708 RGD:8554872 IAGP RGD:405869496 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000708 RGD:8554872 IAGP RGD:405869511 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000712 PMID:25741868|RGD:8554872 IAGP RGD:329954423 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:151348650 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:401829056 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:596922158 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000717 RGD:8554872 IAGP RGD:151662355 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000717 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000719 PMID:25741868|RGD:8554872 IAGP RGD:41407733 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000729 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0000729 PMID:25741868|PMID:35982160|PMID:38958063|RGD:8554872 IAGP RGD:153348587 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:155795992 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:156435115 H mediator complex subunit 13 gene taxon:9606 20230307 ClinVar RGD 1312495 MED13 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:156435116 H mediator complex subunit 13 gene taxon:9606 20230307 ClinVar RGD 1312495 MED13 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:39456754 H mediator complex subunit 13 gene taxon:9606 20210323 ClinVar RGD 1312495 MED13 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:41407733 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000729 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000736 RGD:8554872 IAGP RGD:405291146 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000739 PMID:25741868|PMID:35982160|PMID:38958063|RGD:8554872 IAGP RGD:153348587 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000739 RGD:8554872 IAGP RGD:151662536 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000744 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000748 PMID:25741868|RGD:8554872 IAGP RGD:41407733 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000750 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:155795992 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000750 RGD:8554872 IAGP RGD:153301294 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000750 RGD:8554872 IAGP RGD:155643137 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000750 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000750 RGD:8554872 IAGP RGD:405853618 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000752 PMID:25741868|RGD:8554872 IAGP RGD:41407733 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000805 PMID:25741868|RGD:8554872 IAGP RGD:598233043 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000817 PMID:25741868|RGD:8554872 IAGP RGD:155795992 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000846 RGD:8554872 IAGP RGD:153301263 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000952 PMID:25741868|RGD:8554872 IAGP RGD:155912022 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000957 PMID:25741868|RGD:8554872 IAGP RGD:155912022 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0000957 RGD:8554872 IAGP RGD:405291146 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001007 RGD:8554872 IAGP RGD:40886956 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001249 PMID:25741868|PMID:29740699|RGD:8554872 IAGP RGD:597699469 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001249 PMID:25741868|PMID:35982160|PMID:38958063|RGD:8554872 IAGP RGD:153348587 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38596629 H mediator complex subunit 13 gene taxon:9606 20210323 ClinVar RGD 1312495 MED13 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38596630 H mediator complex subunit 13 gene taxon:9606 20210323 ClinVar RGD 1312495 MED13 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:405270481 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001249 RGD:8554872 IAGP RGD:151662355 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001249 RGD:8554872 IAGP RGD:405853618 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:155912022 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:42723683 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001250 RGD:8554872 IAGP RGD:151662355 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001250 RGD:8554872 IAGP RGD:151662536 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001250 RGD:8554872 IAGP RGD:153301294 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001250 RGD:8554872 IAGP RGD:39456996 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001250 RGD:8554872 IAGP RGD:405869445 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001252 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:401828959 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:714063628 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001256 RGD:8554872 IAGP RGD:405853618 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001263 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0001263 PMID:25741868|PMID:35982160|PMID:38958063|RGD:8554872 IAGP RGD:153348587 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155795992 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155912022 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:243052422 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:329954423 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:405270481 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:41407733 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:597832853 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:616939407 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001263 RGD:8554872 IAGP RGD:153301263 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001263 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001265 PMID:25741868|RGD:8554872 IAGP RGD:243052422 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:243052422 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001328 PMID:25741868|RGD:8554872 IAGP RGD:41407733 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001328 RGD:8554872 IAGP RGD:39456996 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001344 RGD:8554872 IAGP RGD:151662355 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001344 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001347 PMID:25741868|RGD:8554872 IAGP RGD:155912022 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001382 PMID:25741868|PMID:35982160|PMID:38958063|RGD:8554872 IAGP RGD:153348587 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001382 RGD:8554872 IAGP RGD:155643137 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001402 RGD:8554872 IAGP RGD:713358944 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001402 RGD:8554872 IAGP RGD:713358953 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001510 PMID:25741868|RGD:8554872 IAGP RGD:243052422 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001513 PMID:25741868|RGD:8554872 IAGP RGD:597832853 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001513 PMID:25741868|RGD:8554872 IAGP RGD:598233043 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001583 PMID:25741868|RGD:8554872 IAGP RGD:597832853 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001622 RGD:8554872 IAGP RGD:153301263 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001631 RGD:8554872 IAGP RGD:405853618 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001682 RGD:8554872 IAGP RGD:11345028 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001763 RGD:8554872 IAGP RGD:155643137 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001787 PMID:25741868|PMID:35982160|PMID:38958063|RGD:8554872 IAGP RGD:153348587 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:151348650 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0001999 RGD:8554872 IAGP RGD:155643137 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:243052422 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002020 RGD:8554872 IAGP RGD:151662536 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002023 PMID:25741868|PMID:35982160|PMID:38958063|RGD:8554872 IAGP RGD:153348587 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002079 PMID:25741868|RGD:8554872 IAGP RGD:243052422 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002079 PMID:25741868|RGD:8554872 IAGP RGD:329954423 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002119 PMID:25741868|RGD:8554872 IAGP RGD:243052422 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002119 RGD:8554872 IAGP RGD:155643137 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002121 PMID:25741868|RGD:8554872 IAGP RGD:714063628 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002167 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002171 RGD:8554872 IAGP RGD:405291146 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002172 PMID:25741868|RGD:8554872 IAGP RGD:41407733 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002194 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0002197 PMID:25741868|RGD:8554872 IAGP RGD:401828959 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002197 PMID:25741868|RGD:8554872 IAGP RGD:714063628 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002384 RGD:8554872 IAGP RGD:39456425 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002465 PMID:25741868|RGD:8554872 IAGP RGD:150337878 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002465 PMID:25741868|RGD:8554872 IAGP RGD:155965620 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002474 PMID:25741868|RGD:8554872 IAGP RGD:401828959 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002493 PMID:25741868|RGD:8554872 IAGP RGD:408368418 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002493 PMID:25741868|RGD:8554872 IAGP RGD:408394609 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0002813 PMID:25741868|PMID:35982160|PMID:38958063|RGD:8554872 IAGP RGD:153348587 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0003003 RGD:8554872 IAGP RGD:713825963 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0003128 PMID:25741868|RGD:8554872 IAGP RGD:243052422 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0003382 RGD:8554872 IAGP RGD:714110660 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0003474 PMID:25741868|RGD:8554872 IAGP RGD:155795992 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0003502 RGD:8554872 IAGP RGD:714110660 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0003763 PMID:25741868|RGD:8554872 IAGP RGD:155795992 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0004313 RGD:8554872 IAGP RGD:151662536 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:329954423 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:401940520 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0004808 RGD:8554872 IAGP RGD:713701960 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0004808 RGD:8554872 IAGP RGD:713702011 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0004808 RGD:8554872 IAGP RGD:713702231 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0004808 RGD:8554872 IAGP RGD:713705807 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0004808 RGD:8554872 IAGP RGD:713705822 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0005105 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0006533 RGD:8554872 IAGP RGD:153301263 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0006770 RGD:8554872 IAGP RGD:713825980 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0006770 RGD:8554872 IAGP RGD:714046345 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0006990 RGD:8554872 IAGP RGD:405291146 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0007018 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0007018 PMID:25741868|RGD:8554872 IAGP RGD:41407733 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0007018 RGD:8554872 IAGP RGD:151662536 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0007018 RGD:8554872 IAGP RGD:155643137 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0007018 RGD:8554872 IAGP RGD:39456425 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0007018 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0007141 RGD:8554872 IAGP RGD:714110660 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0007204 PMID:25741868|RGD:8554872 IAGP RGD:42723683 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0007327 RGD:8554872 IAGP RGD:714110660 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0008542 RGD:8554872 IAGP RGD:714110660 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0008619 RGD:8554872 IAGP RGD:39456425 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0008936 PMID:25741868|RGD:8554872 IAGP RGD:150337878 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0009921 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0011098 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0011170 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0011297 PMID:25741868|PMID:35982160|PMID:38958063|RGD:8554872 IAGP RGD:153348587 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0011342 PMID:25741868|RGD:8554872 IAGP RGD:714063628 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0011343 PMID:25741868|RGD:8554872 IAGP RGD:401828959 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0011443 PMID:25741868|PMID:35982160|PMID:38958063|RGD:8554872 IAGP RGD:153348587 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0011446 RGD:8554872 IAGP RGD:405291146 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0011797 RGD:8554872 IAGP RGD:713682145 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0011968 PMID:25741868|PMID:35982160|PMID:38958063|RGD:8554872 IAGP RGD:153348587 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0012199 RGD:8554872 IAGP RGD:151662536 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0012450 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0012584 PMID:25741868|RGD:8554872 IAGP RGD:597832853 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0012758 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0012760 PMID:25741868|RGD:8554872 IAGP RGD:155795992 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0025429 PMID:25741868|RGD:8554872 IAGP RGD:155912022 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0030153 RGD:8554872 IAGP RGD:713358953 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0030359 RGD:8554872 IAGP RGD:714046284 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0030359 RGD:8554872 IAGP RGD:714046387 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0030413 PMID:25741868|PMID:29740699|RGD:8554872 IAGP RGD:597699469 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0030748 RGD:8554872 IAGP RGD:153301263 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0033127 PMID:25741868|RGD:8554872 IAGP RGD:405855342 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0045025 MIM:618009|PMID:29740699|RGD:8699517 IAGP H mediator complex subunit 13 gene taxon:9606 20250912 HPO RGD 1312495 MED13 HP:0100022 PMID:25741868|PMID:35982160|PMID:38958063|RGD:8554872 IAGP RGD:153348587 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0100023 PMID:25741868|RGD:8554872 IAGP RGD:155795992 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0100242 RGD:8554872 IAGP RGD:401906470 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0100242 RGD:8554872 IAGP RGD:714046367 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0100242 RGD:8554872 IAGP RGD:714143667 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0100522 RGD:8554872 IAGP RGD:713702203 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0100522 RGD:8554872 IAGP RGD:714046274 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0100526 RGD:8554872 IAGP RGD:714046357 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0100526 RGD:8554872 IAGP RGD:714046423 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0100543 PMID:25741868|PMID:35982160|PMID:38958063|RGD:8554872 IAGP RGD:153348587 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0100543 PMID:25741868|RGD:8554872 IAGP RGD:155965620 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0100851 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0100886 RGD:8554872 IAGP RGD:405718348 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0100951 PMID:25741868|RGD:8554872 IAGP RGD:243052422 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312495 MED13 HP:0200136 PMID:25741868|RGD:8554872 IAGP RGD:243052422 H mediator complex subunit 13 gene taxon:9606 20260519 ClinVar RGD 1312498 IL4I1 HP:0002665 RGD:8554872 IAGP RGD:713863773 H interleukin 4 induced 1 gene taxon:9606 20260519 ClinVar RGD 1312498 IL4I1 HP:0002861 RGD:8554872 IAGP RGD:713766065 H interleukin 4 induced 1 gene taxon:9606 20260519 ClinVar RGD 1312498 IL4I1 HP:0002861 RGD:8554872 IAGP RGD:713863742 H interleukin 4 induced 1 gene taxon:9606 20260519 ClinVar RGD 1312498 IL4I1 HP:0006770 RGD:8554872 IAGP RGD:713766065 H interleukin 4 induced 1 gene taxon:9606 20260707 ClinVar RGD 1312498 IL4I1 HP:0012126 RGD:8554872 IAGP RGD:713766065 H interleukin 4 induced 1 gene taxon:9606 20260707 ClinVar RGD 1312498 IL4I1 HP:0012126 RGD:8554872 IAGP RGD:713766109 H interleukin 4 induced 1 gene taxon:9606 20260519 ClinVar RGD 1312498 IL4I1 HP:0100242 RGD:8554872 IAGP RGD:713766065 H interleukin 4 induced 1 gene taxon:9606 20260707 ClinVar RGD 1312498 IL4I1 HP:0100522 RGD:8554872 IAGP RGD:713766065 H interleukin 4 induced 1 gene taxon:9606 20260707 ClinVar RGD 1312498 IL4I1 HP:0100522 RGD:8554872 IAGP RGD:713863757 H interleukin 4 induced 1 gene taxon:9606 20260519 ClinVar RGD 1312498 IL4I1 HP:0100526 RGD:8554872 IAGP RGD:713766065 H interleukin 4 induced 1 gene taxon:9606 20260707 ClinVar RGD 1312500 AARS1 HP:0000006 MIM:613287|MIM:619661|PMID:20045102|PMID:31775912|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0000007 MIM:616339|MIM:619691|PMID:25817015|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0000012 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523759 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0000028 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000089 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14978157 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0000118 PMID:28492532|RGD:8554872 IAGP RGD:152979075 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0000133 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000219 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0000252 MIM:616339|ORPHA:33364|ORPHA:442835|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:152999174 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:152999467 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0000252 RGD:8554872 IAGP RGD:598214743 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0000252 RGD:8554872 IAGP RGD:598214752 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0000278 MIM:619691|ORPHA:33364|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0000280 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000286 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000316 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000320 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000343 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0000348 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000400 PMID:25741868|RGD:8554872 IAGP RGD:152999174 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0000400 PMID:25741868|RGD:8554872 IAGP RGD:152999467 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0000407 MIM:613287|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000411 MIM:619691|ORPHA:33364|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0000448 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0000482 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000483 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000486 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000486 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13813576 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0000494 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000504 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000505 PMID:31775912|RGD:8554872 IAGP RGD:150520317 H alanyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1312500 AARS1 HP:0000508 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000509 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000519 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000545 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000546 ORPHA:33364|ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250416 HPO RGD 1312500 AARS1 HP:0000565 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000601 MIM:619691|ORPHA:33364|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0000608 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000613 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000618 PMID:31775912|RGD:8554872 IAGP RGD:150520317 H alanyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1312500 AARS1 HP:0000639 MIM:616339|ORPHA:33364|ORPHA:442835|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0000643 MIM:616339|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0000648 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000651 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523759 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0000656 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000668 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000670 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000708 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000717 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000726 MIM:619661|PMID:31775912|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0000750 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000750 RGD:8554872 IAGP RGD:13705793 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0000751 MIM:619661|PMID:31775912|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0000751 PMID:31775912|RGD:8554872 IAGP RGD:150520317 H alanyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1312500 AARS1 HP:0000752 PMID:31775912|RGD:8554872 IAGP RGD:150520317 H alanyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1312500 AARS1 HP:0000763 PMID:25741868|RGD:8554872 IAGP RGD:329953800 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0000938 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000958 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0000964 MIM:619691|ORPHA:33364|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0000973 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0000992 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001097 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001197 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001217 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001249 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001250 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:152999174 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:152999467 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001250 RGD:8554872 IAGP RGD:598214743 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001250 RGD:8554872 IAGP RGD:598214752 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001251 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001257 MIM:616339|MIM:619691|ORPHA:33364|ORPHA:442835|PMID:25817015|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0001260 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001263 MIM:616339|MIM:619691|ORPHA:33364|ORPHA:442835|PMID:25817015|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:152999174 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:152999467 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001263 RGD:8554872 IAGP RGD:598214743 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001263 RGD:8554872 IAGP RGD:598214752 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001264 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0001265 MIM:613287|ORPHA:33364|ORPHA:442835|PMID:22206013|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0001268 MIM:619661|ORPHA:442835|PMID:31775912|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0001273 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001276 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001284 MIM:613287|MIM:616339|MIM:619691|PMID:20045102|PMID:25817015|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0001284 PMID:28492532|RGD:8554872 IAGP RGD:38457027 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001288 MIM:619661|ORPHA:442835|PMID:31775912|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0001288 PMID:31775912|RGD:8554872 IAGP RGD:150520317 H alanyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1312500 AARS1 HP:0001290 ORPHA:33364|ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250416 HPO RGD 1312500 AARS1 HP:0001298 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001315 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001332 MIM:619661|PMID:31775912|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0001336 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001337 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001338 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001363 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001373 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001399 PMID:25741868|RGD:8554872 IAGP RGD:38463816 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001402 PMID:28492532|RGD:8554872 IAGP RGD:28893798 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001402 RGD:8554872 IAGP RGD:713356675 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001508 MIM:616339|ORPHA:442835|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0001511 MIM:616339|ORPHA:33364|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0001519 RGD:8554872 IAGP RGD:617153414 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001537 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001558 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001598 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001618 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001629 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001638 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:38463816 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001733 RGD:8554872 IAGP RGD:598214743 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001733 RGD:8554872 IAGP RGD:598214752 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001738 RGD:8554872 IAGP RGD:598214743 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001738 RGD:8554872 IAGP RGD:598214752 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001761 MIM:613287|PMID:22009580|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0001762 PMID:25741868|RGD:8554872 IAGP RGD:13612172 H alanyl-tRNA synthetase 1 gene taxon:9606 20210323 ClinVar RGD 1312500 AARS1 HP:0001765 MIM:613287|PMID:22009580|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0001807 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001808 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001809 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001838 MIM:616339|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0001852 PMID:25741868|RGD:8554872 IAGP RGD:152999174 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001852 PMID:25741868|RGD:8554872 IAGP RGD:152999467 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001875 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001878 PMID:25741868|RGD:8554872 IAGP RGD:38463816 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001903 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0001931 PMID:25741868|RGD:8554872 IAGP RGD:38463816 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0001935 PMID:25741868|RGD:8554872 IAGP RGD:38463816 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0002020 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002027 RGD:8554872 IAGP RGD:598214743 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0002027 RGD:8554872 IAGP RGD:598214752 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0002059 MIM:616339|ORPHA:442835|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0002063 MIM:619661|ORPHA:442835|PMID:31775912|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0002063 PMID:31775912|RGD:8554872 IAGP RGD:150520317 H alanyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1312500 AARS1 HP:0002066 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002066 PMID:28492532|RGD:8554872 IAGP RGD:38457027 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0002071 PMID:31775912|RGD:8554872 IAGP RGD:150520317 H alanyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1312500 AARS1 HP:0002072 MIM:616339|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0002080 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002119 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002120 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002133 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002188 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0002197 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002209 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002224 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0002293 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002299 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002310 MIM:616339|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0002317 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002352 MIM:619661|PMID:31775912|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0002352 PMID:31775912|RGD:8554872 IAGP RGD:150520317 H alanyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1312500 AARS1 HP:0002376 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002380 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523759 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0002385 PMID:25741868|RGD:8554872 IAGP RGD:329953800 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0002418 RGD:8554872 IAGP RGD:598214743 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0002418 RGD:8554872 IAGP RGD:598214752 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0002421 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002451 MIM:616339|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0002451 PMID:28492532|RGD:8554872 IAGP RGD:38457027 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0002460 MIM:613287|PMID:20045102|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0002476 PMID:31775912|RGD:8554872 IAGP RGD:150520317 H alanyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1312500 AARS1 HP:0002495 PMID:28492532|RGD:8554872 IAGP RGD:38457027 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0002509 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002521 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002562 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002599 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0002600 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523759 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0002705 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002719 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002719 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9586765 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0002750 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002827 MIM:616339|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0002828 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002860 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0002861 RGD:8554872 IAGP RGD:713987435 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0002936 MIM:613287|PMID:20045102|PMID:22206013|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0002942 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0003079 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0003139 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0003202 MIM:613287|PMID:20045102|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0003202 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523759 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0003202 PMID:25741868|RGD:8554872 IAGP RGD:329953800 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0003287 PMID:25741868|RGD:8554872 IAGP RGD:38463816 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0003429 MIM:616339|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0003431 MIM:613287|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0003438 MIM:613287|PMID:22206013|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0003444 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523759 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0003477 MIM:613287|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0003477 PMID:25741868|RGD:8554872 IAGP RGD:405270433 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0003477 PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005|RGD:8554872 IAGP RGD:14396867 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0003487 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0003577 MIM:616339|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0003581 MIM:619661|PMID:31775912|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0003593 MIM:616339|MIM:619691|PMID:25817015|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0003596 MIM:613287|PMID:20045102|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0003621 MIM:613287|PMID:20045102|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0004305 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0004322 MIM:616339|ORPHA:442835|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0004359 PMID:25741868|RGD:8554872 IAGP RGD:38463816 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0004808 RGD:8554872 IAGP RGD:713671045 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0006297 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0006538 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0006970 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0006986 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523759 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0007018 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0007034 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0007256 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0007256 PMID:31775912|RGD:8554872 IAGP RGD:150520317 H alanyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1312500 AARS1 HP:0007266 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0007340 MIM:613287|PMID:22206013|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0007340 RGD:8554872 IAGP RGD:617153414 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0007381 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0007485 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0007495 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0007587 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0007633 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0008003 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0008064 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0008070 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0008386 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0008391 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0008619 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0008936 MIM:616339|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0008944 MIM:613287|PMID:22206013|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0008994 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523759 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0008997 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523759 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0009027 MIM:613287|PMID:22009580|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0009027 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523759 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0009053 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523759 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0009830 MIM:616339|ORPHA:33364|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0009830 PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005|RGD:8554872 IAGP RGD:14396867 H alanyl-tRNA synthetase 1 gene taxon:9606 20230214 ClinVar RGD 1312500 AARS1 HP:0009886 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0010551 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0010844 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0010864 PMID:25741868|RGD:8554872 IAGP RGD:152999174 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0010864 PMID:25741868|RGD:8554872 IAGP RGD:152999467 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0010871 MIM:619661|PMID:31775912|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0010871 PMID:31775912|RGD:8554872 IAGP RGD:150520317 H alanyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1312500 AARS1 HP:0010967 PMID:25741868|RGD:8554872 IAGP RGD:38463816 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0011001 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0011443 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0011448 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0011462 MIM:613287|PMID:20045102|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0011727 PMID:25741868|RGD:8554872 IAGP RGD:329953800 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0011797 RGD:8554872 IAGP RGD:713671035 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0011968 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0012092 RGD:8554872 IAGP RGD:598214743 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0012092 RGD:8554872 IAGP RGD:598214752 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0012126 RGD:8554872 IAGP RGD:714129903 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0012126 RGD:8554872 IAGP RGD:714129915 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0012126 RGD:8554872 IAGP RGD:714129933 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0012126 RGD:8554872 IAGP RGD:714129949 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0012179 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0012196 MIM:619661|PMID:31775912|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0012196 PMID:31775912|RGD:8554872 IAGP RGD:150520317 H alanyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1312500 AARS1 HP:0012377 MIM:619661|PMID:31775912|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0012377 PMID:31775912|RGD:8554872 IAGP RGD:150520317 H alanyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1312500 AARS1 HP:0012444 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0012447 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0012547 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0012638 RGD:8554872 IAGP RGD:598214743 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0012638 RGD:8554872 IAGP RGD:598214752 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0012760 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0020045 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0025548 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0030903 MIM:619661|PMID:31775912|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0031358 MIM:619661|PMID:31775912|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0031358 PMID:31775912|RGD:8554872 IAGP RGD:150520317 H alanyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1312500 AARS1 HP:0032794 MIM:616339|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0033127 PMID:25741868|PMID:28492532|PMID:29653220|RGD:8554872 IAGP RGD:13492901 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0033127 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13495455 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0034782 RGD:8554872 IAGP RGD:598214743 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0034782 RGD:8554872 IAGP RGD:598214752 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0045055 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0045075 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0100021 RGD:8554872 IAGP RGD:598214743 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0100021 RGD:8554872 IAGP RGD:598214752 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0100242 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11624677 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0100275 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0100522 RGD:8554872 IAGP RGD:713987518 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0100526 PMID:25741868|RGD:8554872 IAGP RGD:408394007 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0100526 RGD:8554872 IAGP RGD:713987409 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0100526 RGD:8554872 IAGP RGD:713987415 H alanyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312500 AARS1 HP:0100543 PMID:31775912|RGD:8554872 IAGP RGD:150520317 H alanyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1312500 AARS1 HP:0100660 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0100710 ORPHA:442835|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:0100876 MIM:619691|PMID:33909043|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0200134 MIM:616339|PMID:25817015|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312500 AARS1 HP:0410219 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1312500 AARS1 HP:4000007 ORPHA:33364|RGD:8699517 IAGP H alanyl-tRNA synthetase 1 gene taxon:9606 20240307 HPO RGD 1312502 RC3H2 HP:0001402 RGD:8554872 IAGP RGD:714157000 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0002665 RGD:8554872 IAGP RGD:713505738 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0002861 RGD:8554872 IAGP RGD:713498084 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0002861 RGD:8554872 IAGP RGD:713498149 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0002861 RGD:8554872 IAGP RGD:713498224 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0004808 RGD:8554872 IAGP RGD:713505738 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0004808 RGD:8554872 IAGP RGD:713505769 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0004808 RGD:8554872 IAGP RGD:714254345 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0006725 RGD:8554872 IAGP RGD:713498107 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0006770 RGD:8554872 IAGP RGD:713498043 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0006770 RGD:8554872 IAGP RGD:713498173 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0006770 RGD:8554872 IAGP RGD:713505738 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0006770 RGD:8554872 IAGP RGD:713983655 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0007716 RGD:8554872 IAGP RGD:714011401 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0011797 RGD:8554872 IAGP RGD:714254352 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0011797 RGD:8554872 IAGP RGD:714256359 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0011797 RGD:8554872 IAGP RGD:714256366 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0012126 RGD:8554872 IAGP RGD:713505738 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0012126 RGD:8554872 IAGP RGD:713511135 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0012126 RGD:8554872 IAGP RGD:713717293 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0012126 RGD:8554872 IAGP RGD:713717307 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0100242 RGD:8554872 IAGP RGD:713505601 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0100242 RGD:8554872 IAGP RGD:713505738 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0100522 RGD:8554872 IAGP RGD:713505738 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0100526 RGD:8554872 IAGP RGD:713505738 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312502 RC3H2 HP:0100615 RGD:8554872 IAGP RGD:713505738 H ring finger and CCCH-type domains 2 gene taxon:9606 20260519 ClinVar RGD 1312504 RTKN2 HP:0003003 RGD:8554872 IAGP RGD:713417108 H rhotekin 2 gene taxon:9606 20260519 ClinVar RGD 1312504 RTKN2 HP:0100242 RGD:8554872 IAGP RGD:713417089 H rhotekin 2 gene taxon:9606 20260519 ClinVar RGD 1312504 RTKN2 HP:0100522 RGD:8554872 IAGP RGD:713417049 H rhotekin 2 gene taxon:9606 20260519 ClinVar RGD 1312504 RTKN2 HP:0100526 RGD:8554872 IAGP RGD:713416980 H rhotekin 2 gene taxon:9606 20260519 ClinVar RGD 1312504 RTKN2 HP:0100526 RGD:8554872 IAGP RGD:713417069 H rhotekin 2 gene taxon:9606 20260519 ClinVar RGD 1312504 RTKN2 HP:0100526 RGD:8554872 IAGP RGD:713745051 H rhotekin 2 gene taxon:9606 20260519 ClinVar RGD 1312504 RTKN2 HP:0100526 RGD:8554872 IAGP RGD:713789495 H rhotekin 2 gene taxon:9606 20260519 ClinVar RGD 1312509 HDAC2 HP:0001402 RGD:8554872 IAGP RGD:714078360 H histone deacetylase 2 gene taxon:9606 20260519 ClinVar RGD 1312509 HDAC2 HP:0001402 RGD:8554872 IAGP RGD:714078372 H histone deacetylase 2 gene taxon:9606 20260519 ClinVar RGD 1312509 HDAC2 HP:0001679 PMID:11302704|PMID:19822520|RGD:8554872 IAGP RGD:13530355 H histone deacetylase 2 gene taxon:9606 20260519 ClinVar RGD 1312509 HDAC2 HP:0002861 RGD:8554872 IAGP RGD:713510824 H histone deacetylase 2 gene taxon:9606 20260519 ClinVar RGD 1312509 HDAC2 HP:0004808 RGD:8554872 IAGP RGD:714165692 H histone deacetylase 2 gene taxon:9606 20260519 ClinVar RGD 1312509 HDAC2 HP:0006770 RGD:8554872 IAGP RGD:713510863 H histone deacetylase 2 gene taxon:9606 20260519 ClinVar RGD 1312509 HDAC2 HP:0006770 RGD:8554872 IAGP RGD:713510933 H histone deacetylase 2 gene taxon:9606 20260519 ClinVar RGD 1312509 HDAC2 HP:0006770 RGD:8554872 IAGP RGD:713511018 H histone deacetylase 2 gene taxon:9606 20260519 ClinVar RGD 1312509 HDAC2 HP:0012126 RGD:8554872 IAGP RGD:713550687 H histone deacetylase 2 gene taxon:9606 20260519 ClinVar RGD 1312509 HDAC2 HP:0012126 RGD:8554872 IAGP RGD:713550730 H histone deacetylase 2 gene taxon:9606 20260519 ClinVar RGD 1312509 HDAC2 HP:0030359 RGD:8554872 IAGP RGD:713511035 H histone deacetylase 2 gene taxon:9606 20260519 ClinVar RGD 1312509 HDAC2 HP:0100242 RGD:8554872 IAGP RGD:713550664 H histone deacetylase 2 gene taxon:9606 20260519 ClinVar RGD 1312509 HDAC2 HP:0100526 RGD:8554872 IAGP RGD:714165713 H histone deacetylase 2 gene taxon:9606 20260519 ClinVar RGD 1312511 MUC17 HP:0002861 RGD:8554872 IAGP RGD:713498306 H mucin 17, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312511 MUC17 HP:0003003 RGD:8554872 IAGP RGD:713498069 H mucin 17, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312511 MUC17 HP:0003003 RGD:8554872 IAGP RGD:713498097 H mucin 17, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312511 MUC17 HP:0003003 RGD:8554872 IAGP RGD:713498122 H mucin 17, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312511 MUC17 HP:0003003 RGD:8554872 IAGP RGD:713498147 H mucin 17, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312511 MUC17 HP:0003003 RGD:8554872 IAGP RGD:713498282 H mucin 17, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312511 MUC17 HP:0003003 RGD:8554872 IAGP RGD:713720500 H mucin 17, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312511 MUC17 HP:0006770 RGD:8554872 IAGP RGD:713498227 H mucin 17, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312511 MUC17 HP:0012125 RGD:8554872 IAGP RGD:9686821 H mucin 17, cell surface associated gene taxon:9606 20250708 ClinVar RGD 1312511 MUC17 HP:0012126 RGD:8554872 IAGP RGD:713570947 H mucin 17, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312511 MUC17 HP:0012126 RGD:8554872 IAGP RGD:713570970 H mucin 17, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312511 MUC17 HP:0012126 RGD:8554872 IAGP RGD:713570996 H mucin 17, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312511 MUC17 HP:0012126 RGD:8554872 IAGP RGD:713571012 H mucin 17, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312511 MUC17 HP:0100242 RGD:8554872 IAGP RGD:713498227 H mucin 17, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0000007 MIM:278760|MIM:610965|MIM:615272|PMID:17183314|PMID:23623386|PMID:8797827|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000010 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000012 PMID:20221251|PMID:21612988|PMID:23623389|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:28492532|PMID:29325523|PMID:29892709|PMID:30165384|RGD:8554872 IAGP RGD:8616647 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0000026 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000027 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000028 ORPHA:84|ORPHA:90321|ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0000035 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000047 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000072 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000079 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000083 MIM:610965|ORPHA:84|ORPHA:90321|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000093 MIM:610965|ORPHA:90321|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000107 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0000130 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000135 ORPHA:84|ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0000164 ORPHA:90321|ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0000175 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000218 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000238 ORPHA:220295|ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0000252 MIM:278760|MIM:610965|MIM:615272|ORPHA:220295|ORPHA:84|ORPHA:910|PMID:17183314|PMID:23623386|PMID:29105242|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000252 PMID:25741868|PMID:28492532|PMID:28767289|RGD:8554872 IAGP RGD:38597000 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230214 ClinVar RGD 1312517 ERCC4 HP:0000268 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000275 MIM:610965|PMID:29105242|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000276 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000286 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000303 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000316 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000324 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000331 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000336 MIM:610965|PMID:17183314|PMID:29105242|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000340 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000347 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000347 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14718987 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0000364 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000365 MIM:278760|MIM:610965|ORPHA:220295|ORPHA:84|ORPHA:90321|ORPHA:910|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000369 MIM:615272|PMID:23623386|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000377 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20240208 HPO RGD 1312517 ERCC4 HP:0000400 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000407 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000444 MIM:610965|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000453 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000478 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000483 MIM:278760|ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0000486 ORPHA:84|ORPHA:90321|ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0000488 ORPHA:220295|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000490 MIM:278760|MIM:610965|ORPHA:90321|PMID:29105242|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000491 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000492 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000498 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000504 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000505 MIM:610965|ORPHA:84|ORPHA:90321|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000508 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000509 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000514 PMID:20221251|PMID:21612988|PMID:23623389|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:28492532|PMID:29325523|PMID:29892709|PMID:30165384|RGD:8554872 IAGP RGD:8616647 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0000518 ORPHA:84|ORPHA:90321|ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0000520 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000524 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000528 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000554 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000559 MIM:610965|PMID:29105242|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000568 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000580 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000582 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000613 ORPHA:90321|ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0000618 MIM:610965|PMID:29105242|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000621 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000633 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000639 MIM:278760|ORPHA:220295|ORPHA:84|ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0000648 MIM:610965|ORPHA:220295|ORPHA:90321|ORPHA:910|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000651 ORPHA:220295|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000656 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000674 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000680 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000726 MIM:278760|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000726 RGD:8554872 IAGP RGD:714053439 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0000736 PMID:20221251|PMID:21612988|PMID:23623389|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:28492532|PMID:29325523|PMID:29892709|PMID:30165384|RGD:8554872 IAGP RGD:8616647 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0000813 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000822 MIM:610965|ORPHA:90321|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000864 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000958 MIM:610965|ORPHA:220295|ORPHA:910|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000962 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000963 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000966 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000988 ORPHA:220295|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0000992 MIM:278760|MIM:610965|ORPHA:220295|ORPHA:90321|ORPHA:910|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0000995 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001000 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001009 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001025 ORPHA:220295|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001029 ORPHA:220295|ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0001034 ORPHA:90321|ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0001053 ORPHA:84|ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0001059 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001072 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001172 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001199 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001249 MIM:278760|ORPHA:220295|ORPHA:84|ORPHA:90321|ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20251023 HPO RGD 1312517 ERCC4 HP:0001250 ORPHA:90321|ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0001251 MIM:278760|ORPHA:220295|ORPHA:90321|ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0001251 PMID:20221251|PMID:21612988|PMID:23623389|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:28492532|PMID:29325523|PMID:29892709|PMID:30165384|RGD:8554872 IAGP RGD:8616647 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0001251 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0001251 RGD:8554872 IAGP RGD:714053439 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0001252 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001252 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14718987 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0001256 MIM:610965|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260209 HPO RGD 1312517 ERCC4 HP:0001257 ORPHA:220295|ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0001260 ORPHA:220295|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001260 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0001263 ORPHA:220295|ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0001263 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14718987 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0001266 RGD:8554872 IAGP RGD:714053439 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0001272 PMID:20221251|PMID:21612988|PMID:23623389|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:28492532|PMID:29325523|PMID:29892709|PMID:30165384|RGD:8554872 IAGP RGD:8616647 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0001288 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001289 ORPHA:220295|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001315 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001336 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14718987 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0001337 MIM:278760|ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0001337 RGD:8554872 IAGP RGD:155794740 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0001347 ORPHA:84|ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0001371 MIM:278760|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001392 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001402 RGD:8554872 IAGP RGD:713355352 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0001480 MIM:278760|ORPHA:910|PMID:9579555|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0001508 MIM:610965|ORPHA:90321|ORPHA:910|PMID:29105242|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0001510 MIM:615272|ORPHA:84|PMID:23623386|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0001511 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001537 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001541 MIM:610965|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0001545 MIM:615272|PMID:23623386|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0001562 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001596 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001620 MIM:610965|PMID:29105242|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0001631 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001636 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001639 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001643 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001646 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001671 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001679 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001760 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001761 MIM:610965|PMID:29105242|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0001761 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0001763 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001770 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001824 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001871 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001871 PMID:25741868|RGD:8554872 IAGP RGD:151348873 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20220208 ClinVar RGD 1312517 ERCC4 HP:0001873 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001882 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001903 ORPHA:84|ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0001903 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0001945 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0001999 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002007 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002011 MIM:278760|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002014 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002023 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002032 MIM:615272|PMID:23623386|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0002061 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002071 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002072 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0002072 RGD:8554872 IAGP RGD:155794740 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0002119 MIM:610965|ORPHA:84|PMID:29105242|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0002120 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002120 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0002135 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002172 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002194 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14718987 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0002240 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002245 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002251 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002283 PMID:20221251|PMID:21612988|PMID:23623389|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:28492532|PMID:29325523|PMID:29892709|PMID:30165384|RGD:8554872 IAGP RGD:8616647 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0002283 RGD:8554872 IAGP RGD:714053439 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0002311 MIM:610965|PMID:29105242|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20251023 HPO RGD 1312517 ERCC4 HP:0002311 PMID:20221251|PMID:21612988|PMID:23623389|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:28492532|PMID:29325523|PMID:29892709|PMID:30165384|RGD:8554872 IAGP RGD:8616647 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0002353 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002360 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002363 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0002365 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0002376 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002378 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0002414 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002419 PMID:20221251|PMID:21612988|PMID:23623389|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:28492532|PMID:29325523|PMID:29892709|PMID:30165384|RGD:8554872 IAGP RGD:8616647 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0002497 PMID:23623389|PMID:25741868|PMID:28492532|PMID:9580660|RGD:8554872 IAGP RGD:8616646 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230214 ClinVar RGD 1312517 ERCC4 HP:0002497 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38458906 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20211012 ClinVar RGD 1312517 ERCC4 HP:0002538 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0002575 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002634 ORPHA:220295|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002650 MIM:278760|MIM:610965|ORPHA:84|ORPHA:90321|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0002664 ORPHA:84|ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0002664 PMID:25741868|RGD:8554872 IAGP RGD:8616645 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260602 ClinVar RGD 1312517 ERCC4 HP:0002664 PMID:35101336|RGD:8554872 IAGP RGD:713588159 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0002671 MIM:278760|ORPHA:220295|PMID:9579555|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0002750 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002817 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002823 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002827 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002829 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002860 MIM:278760|PMID:9579555|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0002861 ORPHA:220295|ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0002861 RGD:8554872 IAGP RGD:714034763 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0002863 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0002910 MIM:610965|ORPHA:90321|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0002977 MIM:278760|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0003022 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0003073 MIM:610965|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0003079 MIM:278760|MIM:610965|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0003134 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0003138 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0003213 MIM:278760|PMID:9579555|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0003220 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0003355 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0003510 MIM:610965|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0003577 MIM:615272|PMID:23623386|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0003621 MIM:278760|PMID:9579555|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0004209 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0004322 MIM:278760|MIM:615272|ORPHA:220295|ORPHA:84|ORPHA:910|PMID:23623386|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0004325 MIM:278760|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0004326 MIM:610965|ORPHA:220295|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0004334 MIM:610965|ORPHA:220295|ORPHA:910|PMID:29105242|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0004337 ORPHA:220295|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0004349 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0004370 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0004463 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0004493 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0004808 RGD:8554872 IAGP RGD:713568082 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0004812 PMID:23623386|PMID:25741868|PMID:28492532|PMID:9580660|RGD:8554872 IAGP RGD:8616641 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250311 ClinVar RGD 1312517 ERCC4 HP:0005328 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0005344 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0005522 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0005528 MIM:615272|PMID:23623386|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0005912 MIM:615272|PMID:23623386|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0006101 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0006265 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0006297 MIM:610965|ORPHA:90321|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0006313 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0006347 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260618 HPO RGD 1312517 ERCC4 HP:0006480 MIM:610965|PMID:29105242|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0006501 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0006725 RGD:8554872 IAGP RGD:714034737 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0006739 ORPHA:220295|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0006824 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0006913 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0007108 ORPHA:220295|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0007112 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0007141 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0007400 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0007485 MIM:610965|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0007495 MIM:610965|ORPHA:220295|PMID:17183314|PMID:29105242|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0007565 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0007587 MIM:278760|ORPHA:220295|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250416 HPO RGD 1312517 ERCC4 HP:0007759 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0007843 MIM:610965|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0007874 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0008053 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0008069 MIM:278760|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0008209 MIM:610965|PMID:29105242|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0008366 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0008619 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14718987 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0008678 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0008734 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0008897 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0009130 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0009755 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0009777 MIM:615272|PMID:23623386|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0009830 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0010293 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0010445 MIM:615272|PMID:23623386|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0010469 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0010521 RGD:8554872 IAGP RGD:714053439 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0010649 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0010783 MIM:278760|ORPHA:910|PMID:9579555|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0010804 PMID:17183314|PMID:25741868|PMID:26074087|PMID:28492532|RGD:8554872 IAGP RGD:127234684 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0010804 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127234687 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0011369 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14718987 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0011421 MIM:610965|PMID:17183314|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0011463 MIM:278760|PMID:9579555|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0012041 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0012104 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0012105 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0012126 PMID:28492532|RGD:8554872 IAGP RGD:126916856 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0012210 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0012378 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0012444 MIM:278760|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0012639 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0012733 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0012740 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0012745 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0025145 PMID:20221251|PMID:21612988|PMID:23623389|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:28492532|PMID:29325523|PMID:29892709|PMID:30165384|RGD:8554872 IAGP RGD:8616647 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0031287 MIM:278760|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0031525 MIM:278760|PMID:9579555|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0040012 MIM:615272|PMID:23623386|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250912 HPO RGD 1312517 ERCC4 HP:0040071 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0100012 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0100026 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0100242 PMID:28492532|RGD:8554872 IAGP RGD:126916856 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0100542 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0100543 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0100543 PMID:20221251|PMID:21612988|PMID:23623389|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:28492532|PMID:29325523|PMID:29892709|PMID:30165384|RGD:8554872 IAGP RGD:8616647 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0100543 PMID:23623386|PMID:25741868|RGD:8554872 IAGP RGD:8616643 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312517 ERCC4 HP:0100585 ORPHA:910|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0100587 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0100615 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126762323 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230411 ClinVar RGD 1312517 ERCC4 HP:0100615 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14717933 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230411 ClinVar RGD 1312517 ERCC4 HP:0100615 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14737686 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230411 ClinVar RGD 1312517 ERCC4 HP:0100615 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243054690 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20250729 ClinVar RGD 1312517 ERCC4 HP:0100615 PMID:25741868|RGD:8554872 IAGP RGD:243055462 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230411 ClinVar RGD 1312517 ERCC4 HP:0100699 ORPHA:90321|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0100760 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0100867 ORPHA:84|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0200034 MIM:278760|RGD:8699517 IAGP H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20230821 HPO RGD 1312517 ERCC4 HP:0500041 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14718987 H ERCC excision repair 4, endonuclease catalytic subunit gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0001402 RGD:8554872 IAGP RGD:714084902 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0002861 RGD:8554872 IAGP RGD:714087133 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0002861 RGD:8554872 IAGP RGD:714087224 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0004808 RGD:8554872 IAGP RGD:713601446 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0004808 RGD:8554872 IAGP RGD:713605439 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0004808 RGD:8554872 IAGP RGD:713990067 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0006725 RGD:8554872 IAGP RGD:714087205 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0006770 RGD:8554872 IAGP RGD:714087282 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0011797 RGD:8554872 IAGP RGD:713990050 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0012126 RGD:8554872 IAGP RGD:713932471 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0012126 RGD:8554872 IAGP RGD:713932486 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0030153 RGD:8554872 IAGP RGD:714087126 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0030359 RGD:8554872 IAGP RGD:714087198 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0100242 RGD:8554872 IAGP RGD:713598091 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0100242 RGD:8554872 IAGP RGD:714087274 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0100522 RGD:8554872 IAGP RGD:714087242 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312522 ATAD2 HP:0100526 RGD:8554872 IAGP RGD:714087249 H ATPase family AAA domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0000006 MIM:620241|PMID:29983323|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20250912 HPO RGD 1312524 SMARCC1 HP:0000527 PMID:25741868|RGD:8554872 IAGP RGD:408394563 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0000664 PMID:25741868|RGD:8554872 IAGP RGD:408394563 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:156435091 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20230307 ClinVar RGD 1312524 SMARCC1 HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:408394563 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0001402 RGD:8554872 IAGP RGD:713771593 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0001680 PMID:25741868|RGD:8554872 IAGP RGD:408394563 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:408394563 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0002410 MIM:620241|PMID:29983323|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20250912 HPO RGD 1312524 SMARCC1 HP:0002665 RGD:8554872 IAGP RGD:713817505 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0002861 RGD:8554872 IAGP RGD:713817394 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0002861 RGD:8554872 IAGP RGD:713817540 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0003577 MIM:620241|PMID:29983323|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20250912 HPO RGD 1312524 SMARCC1 HP:0003829 MIM:620241|PMID:29983323|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20250912 HPO RGD 1312524 SMARCC1 HP:0004808 RGD:8554872 IAGP RGD:713735146 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0004808 RGD:8554872 IAGP RGD:713735194 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0006770 RGD:8554872 IAGP RGD:713817297 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0006770 RGD:8554872 IAGP RGD:713817365 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0006770 RGD:8554872 IAGP RGD:713817380 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0010953 MIM:620241|PMID:29983323|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20250912 HPO RGD 1312524 SMARCC1 HP:0011797 RGD:8554872 IAGP RGD:713740380 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0030153 RGD:8554872 IAGP RGD:713771606 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0030359 RGD:8554872 IAGP RGD:713817418 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0100242 RGD:8554872 IAGP RGD:713817281 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0100242 RGD:8554872 IAGP RGD:713937038 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312524 SMARCC1 HP:0100522 RGD:8554872 IAGP RGD:713817492 H SWI/SNF related BAF chromatin remodeling complex subunit C1 gene taxon:9606 20260519 ClinVar RGD 1312526 CDK10 HP:0000007 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000028 RGD:8554872 IAGP RGD:736706989 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0000028 RGD:8554872 IAGP RGD:736707130 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0000218 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000219 MIM:617694|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20230821 HPO RGD 1312526 CDK10 HP:0000248 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000252 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000272 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000286 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000286 RGD:8554872 IAGP RGD:736706989 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0000286 RGD:8554872 IAGP RGD:736707130 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0000307 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000316 MIM:617694|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20230821 HPO RGD 1312526 CDK10 HP:0000319 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000325 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000331 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000343 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000358 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000369 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000377 MIM:617694|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20230821 HPO RGD 1312526 CDK10 HP:0000431 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000455 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000473 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000486 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000494 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000506 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000581 RGD:8554872 IAGP RGD:736706989 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0000581 RGD:8554872 IAGP RGD:736707130 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0000664 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000750 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000752 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0000960 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0001249 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0001250 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0001252 RGD:8554872 IAGP RGD:736706989 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0001252 RGD:8554872 IAGP RGD:736707130 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0001263 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155265521 H cyclin dependent kinase 10 gene taxon:9606 20221011 ClinVar RGD 1312526 CDK10 HP:0001290 MIM:617694|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20230821 HPO RGD 1312526 CDK10 HP:0001382 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0001511 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0001572 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0001631 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0001631 RGD:8554872 IAGP RGD:736706989 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0001631 RGD:8554872 IAGP RGD:736707130 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0001643 PMID:25741868|RGD:8554872 IAGP RGD:150337029 H cyclin dependent kinase 10 gene taxon:9606 20260519 ClinVar RGD 1312526 CDK10 HP:0001650 RGD:8554872 IAGP RGD:736706989 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0001650 RGD:8554872 IAGP RGD:736707130 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0001763 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0002079 MIM:617694|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20230821 HPO RGD 1312526 CDK10 HP:0002119 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0002136 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0002705 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0002861 RGD:8554872 IAGP RGD:714000605 H cyclin dependent kinase 10 gene taxon:9606 20260519 ClinVar RGD 1312526 CDK10 HP:0002861 RGD:8554872 IAGP RGD:714000658 H cyclin dependent kinase 10 gene taxon:9606 20260519 ClinVar RGD 1312526 CDK10 HP:0002861 RGD:8554872 IAGP RGD:714000672 H cyclin dependent kinase 10 gene taxon:9606 20260519 ClinVar RGD 1312526 CDK10 HP:0002861 RGD:8554872 IAGP RGD:714000755 H cyclin dependent kinase 10 gene taxon:9606 20260519 ClinVar RGD 1312526 CDK10 HP:0002937 MIM:617694|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20230821 HPO RGD 1312526 CDK10 HP:0003577 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0004322 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0004325 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0005280 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0006191 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0007413 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0007598 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0008897 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0010055 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0011342 RGD:8554872 IAGP RGD:736706989 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0011342 RGD:8554872 IAGP RGD:736707130 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0012443 PMID:25741868|PMID:26539891|RGD:8554872 IAGP RGD:12858997 H cyclin dependent kinase 10 gene taxon:9606 20231010 ClinVar RGD 1312526 CDK10 HP:0012443 PMID:26539891|RGD:8554872 IAGP RGD:12858887 H cyclin dependent kinase 10 gene taxon:9606 20210323 ClinVar RGD 1312526 CDK10 HP:0012561 RGD:8554872 IAGP RGD:736706989 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0012561 RGD:8554872 IAGP RGD:736707130 H cyclin dependent kinase 10 gene taxon:9606 20260707 ClinVar RGD 1312526 CDK10 HP:0025300 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0030084 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0030153 RGD:8554872 IAGP RGD:714000614 H cyclin dependent kinase 10 gene taxon:9606 20260519 ClinVar RGD 1312526 CDK10 HP:0031936 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0033725 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0040195 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0100242 RGD:8554872 IAGP RGD:714000736 H cyclin dependent kinase 10 gene taxon:9606 20260519 ClinVar RGD 1312526 CDK10 HP:0100522 RGD:8554872 IAGP RGD:126741448 H cyclin dependent kinase 10 gene taxon:9606 20260519 ClinVar RGD 1312526 CDK10 HP:0100522 RGD:8554872 IAGP RGD:714000731 H cyclin dependent kinase 10 gene taxon:9606 20260519 ClinVar RGD 1312526 CDK10 HP:0100526 RGD:8554872 IAGP RGD:714000665 H cyclin dependent kinase 10 gene taxon:9606 20260519 ClinVar RGD 1312526 CDK10 HP:0200055 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312526 CDK10 HP:0430046 MIM:617694|PMID:28886341|RGD:8699517 IAGP H cyclin dependent kinase 10 gene taxon:9606 20250912 HPO RGD 1312532 CAPN7 HP:0002861 RGD:8554872 IAGP RGD:713822380 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0004808 RGD:8554872 IAGP RGD:713955812 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0004808 RGD:8554872 IAGP RGD:713955814 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0004808 RGD:8554872 IAGP RGD:713957301 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0004808 RGD:8554872 IAGP RGD:713958551 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0006770 RGD:8554872 IAGP RGD:713822221 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0030153 RGD:8554872 IAGP RGD:713956296 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0030153 RGD:8554872 IAGP RGD:713958557 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0030359 RGD:8554872 IAGP RGD:713822242 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0100242 RGD:8554872 IAGP RGD:713956296 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0100242 RGD:8554872 IAGP RGD:713958551 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0100522 RGD:8554872 IAGP RGD:713956296 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0100522 RGD:8554872 IAGP RGD:713958545 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0100526 RGD:8554872 IAGP RGD:713822291 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0100526 RGD:8554872 IAGP RGD:713955814 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0100526 RGD:8554872 IAGP RGD:713958551 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312532 CAPN7 HP:0100615 RGD:8554872 IAGP RGD:713822270 H calpain 7 gene taxon:9606 20260519 ClinVar RGD 1312535 SLF1 HP:0001402 RGD:8554872 IAGP RGD:713758208 H SMC5/6 complex localization factor 1 gene taxon:9606 20260519 ClinVar RGD 1312535 SLF1 HP:0002861 RGD:8554872 IAGP RGD:713493524 H SMC5/6 complex localization factor 1 gene taxon:9606 20260519 ClinVar RGD 1312535 SLF1 HP:0003003 RGD:8554872 IAGP RGD:713493488 H SMC5/6 complex localization factor 1 gene taxon:9606 20260519 ClinVar RGD 1312535 SLF1 HP:0006770 RGD:8554872 IAGP RGD:713493465 H SMC5/6 complex localization factor 1 gene taxon:9606 20260519 ClinVar RGD 1312535 SLF1 HP:0012126 RGD:8554872 IAGP RGD:713791673 H SMC5/6 complex localization factor 1 gene taxon:9606 20260519 ClinVar RGD 1312535 SLF1 HP:0100242 RGD:8554872 IAGP RGD:713791683 H SMC5/6 complex localization factor 1 gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:401946836 H VPS39 subunit of HOPS complex gene taxon:9606 20240109 ClinVar RGD 1312537 VPS39 HP:0001402 RGD:8554872 IAGP RGD:713354362 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0002861 RGD:8554872 IAGP RGD:713737642 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0002861 RGD:8554872 IAGP RGD:713737720 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0002861 RGD:8554872 IAGP RGD:713737779 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0002861 RGD:8554872 IAGP RGD:713737856 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0002861 RGD:8554872 IAGP RGD:713737956 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0004808 RGD:8554872 IAGP RGD:713555897 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0004808 RGD:8554872 IAGP RGD:714164561 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0006770 RGD:8554872 IAGP RGD:713737764 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0007716 RGD:8554872 IAGP RGD:713792080 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0011797 RGD:8554872 IAGP RGD:713555885 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0012126 RGD:8554872 IAGP RGD:713958121 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0030153 RGD:8554872 IAGP RGD:713737743 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0030153 RGD:8554872 IAGP RGD:713792080 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0030153 RGD:8554872 IAGP RGD:713958127 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0030359 RGD:8554872 IAGP RGD:713737882 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0100242 RGD:8554872 IAGP RGD:713737629 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0100242 RGD:8554872 IAGP RGD:713738031 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0100242 RGD:8554872 IAGP RGD:713958127 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0100242 RGD:8554872 IAGP RGD:713958137 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0100526 RGD:8554872 IAGP RGD:713737835 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0100526 RGD:8554872 IAGP RGD:713738011 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0100526 RGD:8554872 IAGP RGD:713738062 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312537 VPS39 HP:0100526 RGD:8554872 IAGP RGD:713958127 H VPS39 subunit of HOPS complex gene taxon:9606 20260519 ClinVar RGD 1312541 UBE2G2 HP:0004808 RGD:8554872 IAGP RGD:713964025 H ubiquitin conjugating enzyme E2 G2 gene taxon:9606 20260519 ClinVar RGD 1312545 PARD3B HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:616937478 H par-3 family cell polarity regulator beta gene taxon:9606 20250701 ClinVar RGD 1312545 PARD3B HP:0001402 RGD:8554872 IAGP RGD:714263036 H par-3 family cell polarity regulator beta gene taxon:9606 20260519 ClinVar RGD 1312545 PARD3B HP:0001402 RGD:8554872 IAGP RGD:714263041 H par-3 family cell polarity regulator beta gene taxon:9606 20260519 ClinVar RGD 1312545 PARD3B HP:0004808 RGD:8554872 IAGP RGD:713786383 H par-3 family cell polarity regulator beta gene taxon:9606 20260519 ClinVar RGD 1312545 PARD3B HP:0012126 RGD:8554872 IAGP RGD:713506490 H par-3 family cell polarity regulator beta gene taxon:9606 20260519 ClinVar RGD 1312545 PARD3B HP:0012126 RGD:8554872 IAGP RGD:713506513 H par-3 family cell polarity regulator beta gene taxon:9606 20260519 ClinVar RGD 1312545 PARD3B HP:0012126 RGD:8554872 IAGP RGD:713506538 H par-3 family cell polarity regulator beta gene taxon:9606 20260519 ClinVar RGD 1312545 PARD3B HP:0012126 RGD:8554872 IAGP RGD:713783180 H par-3 family cell polarity regulator beta gene taxon:9606 20260519 ClinVar RGD 1312545 PARD3B HP:0100242 RGD:8554872 IAGP RGD:713783180 H par-3 family cell polarity regulator beta gene taxon:9606 20260519 ClinVar RGD 1312545 PARD3B HP:0100242 RGD:8554872 IAGP RGD:713813289 H par-3 family cell polarity regulator beta gene taxon:9606 20260519 ClinVar RGD 1312545 PARD3B HP:0100242 RGD:8554872 IAGP RGD:713813302 H par-3 family cell polarity regulator beta gene taxon:9606 20260519 ClinVar RGD 1312545 PARD3B HP:0100526 RGD:8554872 IAGP RGD:713506559 H par-3 family cell polarity regulator beta gene taxon:9606 20260519 ClinVar RGD 1312545 PARD3B HP:0100526 RGD:8554872 IAGP RGD:713813315 H par-3 family cell polarity regulator beta gene taxon:9606 20260519 ClinVar RGD 1312545 PARD3B HP:0100753 PMID:21681106|PMID:30208311|RGD:8554872 IAGP RGD:14352280 H par-3 family cell polarity regulator beta gene taxon:9606 20210323 ClinVar RGD 1312545 PARD3B HP:0100753 PMID:21681106|PMID:30208311|RGD:8554872 IAGP RGD:14352282 H par-3 family cell polarity regulator beta gene taxon:9606 20210323 ClinVar RGD 1312546 TNFRSF9 HP:0000007 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0001744 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0001876 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0002110 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0002155 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0002665 PMID:16199547|PMID:28492532|PMID:30872117|PMID:31501153|RGD:8554872 IAGP RGD:151853708 H TNF receptor superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312546 TNFRSF9 HP:0002783 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0003003 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151800804 H TNF receptor superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312546 TNFRSF9 HP:0003621 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0004315 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0004808 RGD:8554872 IAGP RGD:713413523 H TNF receptor superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312546 TNFRSF9 HP:0008940 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0011108 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0011463 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0011900 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0012189 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0012476 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0020072 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0030252 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0031382 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312546 TNFRSF9 HP:0100242 RGD:8554872 IAGP RGD:714070131 H TNF receptor superfamily member 9 gene taxon:9606 20260519 ClinVar RGD 1312546 TNFRSF9 HP:0410295 MIM:620282|PMID:30872117|RGD:8699517 IAGP H TNF receptor superfamily member 9 gene taxon:9606 20250912 HPO RGD 1312550 MUC20 HP:0001402 RGD:8554872 IAGP RGD:713750099 H mucin 20, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312550 MUC20 HP:0001402 RGD:8554872 IAGP RGD:714265162 H mucin 20, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312550 MUC20 HP:0002665 RGD:8554872 IAGP RGD:713851576 H mucin 20, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312550 MUC20 HP:0004808 RGD:8554872 IAGP RGD:713959232 H mucin 20, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312550 MUC20 HP:0006770 RGD:8554872 IAGP RGD:713851593 H mucin 20, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312550 MUC20 HP:0030153 RGD:8554872 IAGP RGD:713851638 H mucin 20, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312550 MUC20 HP:0100522 RGD:8554872 IAGP RGD:713851638 H mucin 20, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312550 MUC20 HP:0100526 RGD:8554872 IAGP RGD:713601671 H mucin 20, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312550 MUC20 HP:0100615 RGD:8554872 IAGP RGD:713851527 H mucin 20, cell surface associated gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0000007 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0000716 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0000750 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0000969 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0000978 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0001270 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0001371 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0001392 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0001513 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0001626 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0001744 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0001875 PMID:16199547|PMID:28492532|RGD:8554872 IAGP RGD:151663603 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0001890 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0001934 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0001954 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0002099 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0002135 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0002240 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0002240 PMID:16199547|PMID:28492532|RGD:8554872 IAGP RGD:151663603 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0002242 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0002577 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0002716 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0002719 PMID:16199547|PMID:28492532|RGD:8554872 IAGP RGD:151663603 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0002721 PMID:16199547|PMID:28492532|RGD:8554872 IAGP RGD:151663603 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0002721 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0002793 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0002960 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0003124 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0003202 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0003593 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0004313 PMID:16199547|PMID:28492532|RGD:8554872 IAGP RGD:151663603 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0005978 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0006770 RGD:8554872 IAGP RGD:713728070 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0009064 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0010783 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0012115 PMID:16199547|PMID:28492532|RGD:8554872 IAGP RGD:151663603 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0012490 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0012647 PMID:28492532|RGD:8554872 IAGP RGD:126730581 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0020072 PMID:16199547|PMID:28492532|RGD:8554872 IAGP RGD:151663603 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0030359 RGD:8554872 IAGP RGD:713728108 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0030812 PMID:16199547|PMID:28492532|RGD:8554872 IAGP RGD:151663603 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0033331 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312554 PSMG2 HP:0040261 PMID:16199547|PMID:28492532|RGD:8554872 IAGP RGD:151663603 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0100242 RGD:8554872 IAGP RGD:713712762 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0100526 RGD:8554872 IAGP RGD:713712762 H proteasome assembly chaperone 2 gene taxon:9606 20260519 ClinVar RGD 1312554 PSMG2 HP:0100614 MIM:619183|PMID:30664889|RGD:8699517 IAGP H proteasome assembly chaperone 2 gene taxon:9606 20250912 HPO RGD 1312556 DPH7 HP:0001402 RGD:8554872 IAGP RGD:713723255 H diphthamide biosynthesis 7 gene taxon:9606 20260707 ClinVar RGD 1312556 DPH7 HP:0001402 RGD:8554872 IAGP RGD:714088346 H diphthamide biosynthesis 7 gene taxon:9606 20260519 ClinVar RGD 1312556 DPH7 HP:0002861 RGD:8554872 IAGP RGD:714012768 H diphthamide biosynthesis 7 gene taxon:9606 20260519 ClinVar RGD 1312556 DPH7 HP:0006770 RGD:8554872 IAGP RGD:713814788 H diphthamide biosynthesis 7 gene taxon:9606 20260519 ClinVar RGD 1312556 DPH7 HP:0007716 RGD:8554872 IAGP RGD:714012768 H diphthamide biosynthesis 7 gene taxon:9606 20260519 ClinVar RGD 1312556 DPH7 HP:0011797 RGD:8554872 IAGP RGD:713513675 H diphthamide biosynthesis 7 gene taxon:9606 20260519 ClinVar RGD 1312556 DPH7 HP:0012125 RGD:8554872 IAGP RGD:9687121 H diphthamide biosynthesis 7 gene taxon:9606 20250708 ClinVar RGD 1312556 DPH7 HP:0100526 RGD:8554872 IAGP RGD:713574135 H diphthamide biosynthesis 7 gene taxon:9606 20260519 ClinVar RGD 1312556 DPH7 HP:0100526 RGD:8554872 IAGP RGD:714012768 H diphthamide biosynthesis 7 gene taxon:9606 20260519 ClinVar RGD 1312560 RGS20 HP:0001402 RGD:8554872 IAGP RGD:714156102 H regulator of G protein signaling 20 gene taxon:9606 20260519 ClinVar RGD 1312560 RGS20 HP:0006770 RGD:8554872 IAGP RGD:714136365 H regulator of G protein signaling 20 gene taxon:9606 20260519 ClinVar RGD 1312560 RGS20 HP:0006770 RGD:8554872 IAGP RGD:714136374 H regulator of G protein signaling 20 gene taxon:9606 20260519 ClinVar RGD 1312560 RGS20 HP:0100242 RGD:8554872 IAGP RGD:714136320 H regulator of G protein signaling 20 gene taxon:9606 20260519 ClinVar RGD 1312560 RGS20 HP:0100522 RGD:8554872 IAGP RGD:714136341 H regulator of G protein signaling 20 gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000007 MIM:618847|PMID:26224645|RGD:8699517 IAGP H myocardin related transcription factor A gene taxon:9606 20250912 HPO RGD 1312564 MRTFA HP:0000014 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000080 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000360 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000421 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000504 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000540 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000716 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000716 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000722 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000824 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000953 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000974 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000978 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0000978 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0001075 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0001287 MIM:618847|PMID:26224645|RGD:8699517 IAGP H myocardin related transcription factor A gene taxon:9606 20250912 HPO RGD 1312564 MRTFA HP:0001392 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0001402 RGD:8554872 IAGP RGD:713373314 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0001513 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0001560 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0001581 MIM:618847|PMID:26224645|RGD:8699517 IAGP H myocardin related transcription factor A gene taxon:9606 20250912 HPO RGD 1312564 MRTFA HP:0001787 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0001877 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0001934 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0002087 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0002099 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0002099 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0002242 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0002242 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0002250 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0002321 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0002577 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0002686 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0002686 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0002721 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0002721 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0003110 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0003110 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0007302 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0010780 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0011767 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0011889 PMID:28492532|RGD:8554872 IAGP RGD:126748229 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0012647 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0031379 MIM:618847|PMID:26224645|RGD:8699517 IAGP H myocardin related transcription factor A gene taxon:9606 20250912 HPO RGD 1312564 MRTFA HP:0100242 PMID:28492532|RGD:8554872 IAGP RGD:714004082 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0100767 PMID:28492532|RGD:8554872 IAGP RGD:405193687 H myocardin related transcription factor A gene taxon:9606 20260519 ClinVar RGD 1312564 MRTFA HP:0100806 MIM:618847|PMID:26224645|RGD:8699517 IAGP H myocardin related transcription factor A gene taxon:9606 20250912 HPO RGD 1312564 MRTFA HP:0200039 MIM:618847|PMID:26224645|RGD:8699517 IAGP H myocardin related transcription factor A gene taxon:9606 20250912 HPO RGD 1312564 MRTFA HP:0410017 MIM:618847|PMID:26224645|RGD:8699517 IAGP H myocardin related transcription factor A gene taxon:9606 20250912 HPO RGD 1312567 DLX3 HP:0000006 MIM:104510|MIM:190320|PMID:15666299|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20251023 HPO RGD 1312567 DLX3 HP:0000131 PMID:25741868|RGD:8554872 IAGP RGD:153001475 H distal-less homeobox 3 gene taxon:9606 20220719 ClinVar RGD 1312567 DLX3 HP:0000264 MIM:190320|ORPHA:3352|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20250416 HPO RGD 1312567 DLX3 HP:0000268 MIM:190320|ORPHA:3352|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20250416 HPO RGD 1312567 DLX3 HP:0000677 RGD:8554872 IAGP RGD:617153188 H distal-less homeobox 3 gene taxon:9606 20260519 ClinVar RGD 1312567 DLX3 HP:0000679 MIM:104510|MIM:190320|ORPHA:3352|PMID:15666299|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20250912 HPO RGD 1312567 DLX3 HP:0000679 PMID:25741868|RGD:8554872 IAGP RGD:13519557 H distal-less homeobox 3 gene taxon:9606 20260519 ClinVar RGD 1312567 DLX3 HP:0000679 RGD:8554872 IAGP RGD:13519567 H distal-less homeobox 3 gene taxon:9606 20260519 ClinVar RGD 1312567 DLX3 HP:0000687 MIM:190320|ORPHA:3352|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20250416 HPO RGD 1312567 DLX3 HP:0000691 MIM:190320|ORPHA:3352|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20250416 HPO RGD 1312567 DLX3 HP:0000691 RGD:8554872 IAGP RGD:617153188 H distal-less homeobox 3 gene taxon:9606 20260519 ClinVar RGD 1312567 DLX3 HP:0000705 MIM:104510|PMID:15666299|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20250912 HPO RGD 1312567 DLX3 HP:0000705 PMID:25741868|RGD:8554872 IAGP RGD:12741945 H distal-less homeobox 3 gene taxon:9606 20210323 ClinVar RGD 1312567 DLX3 HP:0000705 PMID:25741868|RGD:8554872 IAGP RGD:13519557 H distal-less homeobox 3 gene taxon:9606 20260519 ClinVar RGD 1312567 DLX3 HP:0000705 RGD:8554872 IAGP RGD:13519567 H distal-less homeobox 3 gene taxon:9606 20260519 ClinVar RGD 1312567 DLX3 HP:0000968 RGD:8554872 IAGP RGD:617153188 H distal-less homeobox 3 gene taxon:9606 20260519 ClinVar RGD 1312567 DLX3 HP:0001595 MIM:190320|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20230821 HPO RGD 1312567 DLX3 HP:0001595 PMID:25741868|RGD:8554872 IAGP RGD:13519557 H distal-less homeobox 3 gene taxon:9606 20260519 ClinVar RGD 1312567 DLX3 HP:0001597 ORPHA:3352|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20230821 HPO RGD 1312567 DLX3 HP:0001808 MIM:190320|ORPHA:3352|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20250416 HPO RGD 1312567 DLX3 HP:0002007 MIM:190320|ORPHA:3352|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20250416 HPO RGD 1312567 DLX3 HP:0002212 RGD:8554872 IAGP RGD:617153188 H distal-less homeobox 3 gene taxon:9606 20260519 ClinVar RGD 1312567 DLX3 HP:0006285 ORPHA:3352|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20230821 HPO RGD 1312567 DLX3 HP:0006286 MIM:104510|PMID:15666299|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20250912 HPO RGD 1312567 DLX3 HP:0006297 MIM:104510|PMID:15666299|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20250912 HPO RGD 1312567 DLX3 HP:0006485 ORPHA:3352|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20230821 HPO RGD 1312567 DLX3 HP:0009722 ORPHA:3352|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20230821 HPO RGD 1312567 DLX3 HP:0011001 MIM:190320|ORPHA:3352|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20251023 HPO RGD 1312567 DLX3 HP:0011362 ORPHA:3352|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20230821 HPO RGD 1312567 DLX3 HP:0012126 RGD:8554872 IAGP RGD:150459912 H distal-less homeobox 3 gene taxon:9606 20260519 ClinVar RGD 1312567 DLX3 HP:0012126 RGD:8554872 IAGP RGD:714142519 H distal-less homeobox 3 gene taxon:9606 20260519 ClinVar RGD 1312567 DLX3 HP:0030056 RGD:8554872 IAGP RGD:617153188 H distal-less homeobox 3 gene taxon:9606 20260519 ClinVar RGD 1312567 DLX3 HP:0030312 ORPHA:3352|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20230821 HPO RGD 1312567 DLX3 HP:0030758 ORPHA:3352|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20230821 HPO RGD 1312567 DLX3 HP:0040019 ORPHA:3352|RGD:8699517 IAGP H distal-less homeobox 3 gene taxon:9606 20230821 HPO RGD 1312567 DLX3 HP:0100242 RGD:8554872 IAGP RGD:714142519 H distal-less homeobox 3 gene taxon:9606 20260519 ClinVar RGD 1312569 GGCT HP:0011797 RGD:8554872 IAGP RGD:713982973 H gamma-glutamylcyclotransferase gene taxon:9606 20260519 ClinVar RGD 1312571 TRIM44 HP:0000006 MIM:617142|PMID:26394807|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20250912 HPO RGD 1312571 TRIM44 HP:0000486 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0000501 MIM:617142|ORPHA:250923|PMID:26394807|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20250912 HPO RGD 1312571 TRIM44 HP:0000508 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0000518 MIM:617142|ORPHA:250923|PMID:26394807|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20250912 HPO RGD 1312571 TRIM44 HP:0000526 MIM:617142|ORPHA:250923|PMID:26394807|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20250912 HPO RGD 1312571 TRIM44 HP:0000568 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0000572 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20230821 HPO RGD 1312571 TRIM44 HP:0000609 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0000613 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0000639 MIM:617142|ORPHA:250923|PMID:26394807|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20250912 HPO RGD 1312571 TRIM44 HP:0000642 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0000659 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20230821 HPO RGD 1312571 TRIM44 HP:0001083 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0001097 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0002861 RGD:8554872 IAGP RGD:714226118 H tripartite motif containing 44 gene taxon:9606 20260519 ClinVar RGD 1312571 TRIM44 HP:0002861 RGD:8554872 IAGP RGD:714226121 H tripartite motif containing 44 gene taxon:9606 20260519 ClinVar RGD 1312571 TRIM44 HP:0003577 MIM:617142|PMID:26394807|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20250912 HPO RGD 1312571 TRIM44 HP:0007663 MIM:617142|ORPHA:250923|PMID:26394807|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20250912 HPO RGD 1312571 TRIM44 HP:0007676 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0007750 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0007894 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0007957 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0008059 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20230821 HPO RGD 1312571 TRIM44 HP:0011496 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0030466 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0030468 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0030622 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0030961 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0032107 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312571 TRIM44 HP:0100526 RGD:8554872 IAGP RGD:714226126 H tripartite motif containing 44 gene taxon:9606 20260519 ClinVar RGD 1312571 TRIM44 HP:0100719 ORPHA:250923|RGD:8699517 IAGP H tripartite motif containing 44 gene taxon:9606 20241212 HPO RGD 1312572 ATG2B HP:0001402 RGD:8554872 IAGP RGD:713785624 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0002861 RGD:8554872 IAGP RGD:713549353 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0002861 RGD:8554872 IAGP RGD:713549437 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0002861 RGD:8554872 IAGP RGD:713549567 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0002861 RGD:8554872 IAGP RGD:713549603 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0004808 RGD:8554872 IAGP RGD:150439697 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0004808 RGD:8554872 IAGP RGD:714162787 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0006770 RGD:8554872 IAGP RGD:713549451 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0006770 RGD:8554872 IAGP RGD:713987530 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0012126 RGD:8554872 IAGP RGD:713957183 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0012126 RGD:8554872 IAGP RGD:713987519 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0012126 RGD:8554872 IAGP RGD:713987530 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0012126 RGD:8554872 IAGP RGD:714162787 H autophagy related 2B gene taxon:9606 20260707 ClinVar RGD 1312572 ATG2B HP:0030153 RGD:8554872 IAGP RGD:713549553 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0030153 RGD:8554872 IAGP RGD:713987530 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0100522 RGD:8554872 IAGP RGD:150439697 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0100526 RGD:8554872 IAGP RGD:150439697 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0100526 RGD:8554872 IAGP RGD:713549290 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312572 ATG2B HP:0100526 RGD:8554872 IAGP RGD:713822176 H autophagy related 2B gene taxon:9606 20260519 ClinVar RGD 1312575 SCUBE3 HP:0000007 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260209 HPO RGD 1312575 SCUBE3 HP:0000047 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0000164 PMID:25741868|PMID:33308444|RGD:8554872 IAGP RGD:42723568 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20210406 ClinVar RGD 1312575 SCUBE3 HP:0000164 PMID:25741868|RGD:8554872 IAGP RGD:42723572 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260602 ClinVar RGD 1312575 SCUBE3 HP:0000164 PMID:25741868|RGD:8554872 IAGP RGD:42723575 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260602 ClinVar RGD 1312575 SCUBE3 HP:0000175 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260209 HPO RGD 1312575 SCUBE3 HP:0000201 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0000252 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260209 HPO RGD 1312575 SCUBE3 HP:0000276 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0000307 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0000325 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0000331 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0000348 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0000426 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0000483 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0000486 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0000639 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0000668 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260209 HPO RGD 1312575 SCUBE3 HP:0000677 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0000678 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260209 HPO RGD 1312575 SCUBE3 HP:0000878 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0000924 PMID:25741868|PMID:33308444|RGD:8554872 IAGP RGD:42723568 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20210406 ClinVar RGD 1312575 SCUBE3 HP:0000924 PMID:25741868|RGD:8554872 IAGP RGD:42723572 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260602 ClinVar RGD 1312575 SCUBE3 HP:0000924 PMID:25741868|RGD:8554872 IAGP RGD:42723575 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260602 ClinVar RGD 1312575 SCUBE3 HP:0001156 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0001249 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260209 HPO RGD 1312575 SCUBE3 HP:0001252 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260209 HPO RGD 1312575 SCUBE3 HP:0001263 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260209 HPO RGD 1312575 SCUBE3 HP:0001382 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260209 HPO RGD 1312575 SCUBE3 HP:0001387 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0001511 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260209 HPO RGD 1312575 SCUBE3 HP:0001631 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0001655 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0001999 PMID:25741868|PMID:33308444|RGD:8554872 IAGP RGD:42723568 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20210406 ClinVar RGD 1312575 SCUBE3 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:126736366 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312575 SCUBE3 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:126736370 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312575 SCUBE3 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:126736386 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312575 SCUBE3 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:126736392 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20220118 ClinVar RGD 1312575 SCUBE3 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:42723571 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260602 ClinVar RGD 1312575 SCUBE3 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:42723572 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260602 ClinVar RGD 1312575 SCUBE3 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:42723575 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260602 ClinVar RGD 1312575 SCUBE3 HP:0002299 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0002650 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20251023 HPO RGD 1312575 SCUBE3 HP:0002786 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0003026 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260209 HPO RGD 1312575 SCUBE3 HP:0003189 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0004279 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0004322 PMID:25741868|PMID:33308444|RGD:8554872 IAGP RGD:42723568 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20210406 ClinVar RGD 1312575 SCUBE3 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:42723572 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260602 ClinVar RGD 1312575 SCUBE3 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:42723575 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260602 ClinVar RGD 1312575 SCUBE3 HP:0006297 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0008897 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20260209 HPO RGD 1312575 SCUBE3 HP:0011062 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0011318 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0011675 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0012125 RGD:8554872 IAGP RGD:9687134 H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250708 ClinVar RGD 1312575 SCUBE3 HP:0012471 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0030674 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312575 SCUBE3 HP:0200136 MIM:619184|PMID:33308444|RGD:8699517 IAGP H signal peptide, CUB domain and EGF like domain containing 3 gene taxon:9606 20250912 HPO RGD 1312578 CLPX HP:0000006 MIM:618015|PMID:28874591|RGD:8699517 IAGP H caseinolytic mitochondrial matrix peptidase chaperone subunit X gene taxon:9606 20250912 HPO RGD 1312578 CLPX HP:0000992 MIM:618015|PMID:28874591|RGD:8699517 IAGP H caseinolytic mitochondrial matrix peptidase chaperone subunit X gene taxon:9606 20250912 HPO RGD 1312578 CLPX HP:0001402 RGD:8554872 IAGP RGD:714158919 H caseinolytic mitochondrial matrix peptidase chaperone subunit X gene taxon:9606 20260519 ClinVar RGD 1312578 CLPX HP:0001891 MIM:618015|PMID:28874591|RGD:8699517 IAGP H caseinolytic mitochondrial matrix peptidase chaperone subunit X gene taxon:9606 20250912 HPO RGD 1312578 CLPX HP:0002861 RGD:8554872 IAGP RGD:713762446 H caseinolytic mitochondrial matrix peptidase chaperone subunit X gene taxon:9606 20260519 ClinVar RGD 1312578 CLPX HP:0003593 MIM:618015|PMID:28874591|RGD:8699517 IAGP H caseinolytic mitochondrial matrix peptidase chaperone subunit X gene taxon:9606 20250912 HPO RGD 1312578 CLPX HP:0012126 RGD:8554872 IAGP RGD:713959438 H caseinolytic mitochondrial matrix peptidase chaperone subunit X gene taxon:9606 20260519 ClinVar RGD 1312578 CLPX HP:0012187 MIM:618015|PMID:28874591|RGD:8699517 IAGP H caseinolytic mitochondrial matrix peptidase chaperone subunit X gene taxon:9606 20250912 HPO RGD 1312578 CLPX HP:0100242 RGD:8554872 IAGP RGD:713570301 H caseinolytic mitochondrial matrix peptidase chaperone subunit X gene taxon:9606 20260519 ClinVar RGD 1312578 CLPX HP:0100242 RGD:8554872 IAGP RGD:713762485 H caseinolytic mitochondrial matrix peptidase chaperone subunit X gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0000360 PMID:28492532|RGD:8554872 IAGP RGD:151776635 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0000479 PMID:28492532|RGD:8554872 IAGP RGD:151776635 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0000504 PMID:28492532|RGD:8554872 IAGP RGD:151776635 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0000517 PMID:28492532|RGD:8554872 IAGP RGD:151776635 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0000540 PMID:28492532|RGD:8554872 IAGP RGD:151776635 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:151776635 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0000716 PMID:28492532|RGD:8554872 IAGP RGD:151776635 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:151776635 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0001249 RGD:8554872 IAGP RGD:151353066 H DS cell adhesion molecule like 1 gene taxon:9606 20220208 ClinVar RGD 1312583 DSCAML1 HP:0001402 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152122224 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0002032 RGD:8554872 IAGP RGD:15174085 H DS cell adhesion molecule like 1 gene taxon:9606 20210323 ClinVar RGD 1312583 DSCAML1 HP:0002354 PMID:28492532|RGD:8554872 IAGP RGD:151776635 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0002861 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152122224 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0004808 RGD:8554872 IAGP RGD:713734553 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0006770 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152122224 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0011797 RGD:8554872 IAGP RGD:713745816 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0011797 RGD:8554872 IAGP RGD:713745837 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0012125 RGD:8554872 IAGP RGD:9687052 H DS cell adhesion molecule like 1 gene taxon:9606 20250708 ClinVar RGD 1312583 DSCAML1 HP:0012126 RGD:8554872 IAGP RGD:714014851 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0012126 RGD:8554872 IAGP RGD:714014866 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0012443 PMID:26539891|PMID:28492532|RGD:8554872 IAGP RGD:12858885 H DS cell adhesion molecule like 1 gene taxon:9606 20230214 ClinVar RGD 1312583 DSCAML1 HP:0030153 RGD:8554872 IAGP RGD:713734553 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0030153 RGD:8554872 IAGP RGD:714014866 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0100242 RGD:8554872 IAGP RGD:714216126 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0100522 RGD:8554872 IAGP RGD:713734553 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0100522 RGD:8554872 IAGP RGD:714014851 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0100526 RGD:8554872 IAGP RGD:714014866 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312583 DSCAML1 HP:0100526 RGD:8554872 IAGP RGD:714216103 H DS cell adhesion molecule like 1 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0000006 MIM:620224|MIM:620253|PMID:25090642|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000028 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000054 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000154 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000218 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:151348715 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0000262 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000294 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000322 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000322 PMID:25741868|RGD:8554872 IAGP RGD:151348715 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0000324 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000337 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000347 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000414 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000463 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000470 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000473 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000484 PMID:25741868|RGD:8554872 IAGP RGD:151348715 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0000486 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000486 PMID:25741868|RGD:8554872 IAGP RGD:151348715 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0000486 PMID:25741868|RGD:8554872 IAGP RGD:714059500 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0000490 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000501 MIM:620253|PMID:25090642|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000506 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000508 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000518 MIM:620253|PMID:25090642|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000540 PMID:25741868|RGD:8554872 IAGP RGD:714059500 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0000541 MIM:620253|PMID:25090642|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000577 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000582 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000729 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000750 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:714059500 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0000767 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0000996 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0001182 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0001249 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:151348715 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0001250 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0001250 RGD:8554872 IAGP RGD:151663564 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0001250 RGD:8554872 IAGP RGD:153301190 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0001250 RGD:8554872 IAGP RGD:40888365 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0001252 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0001263 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:714059500 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0001263 RGD:8554872 IAGP RGD:14398874 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20210323 ClinVar RGD 1312585 TRPM3 HP:0001266 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:714059500 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0001344 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0001344 PMID:25741868|RGD:8554872 IAGP RGD:714059500 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0001357 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0001385 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0001513 RGD:8554872 IAGP RGD:151663564 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0001763 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0001776 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0001943 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:714050822 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0002069 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0002119 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0002121 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0002305 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0002650 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0002861 RGD:8554872 IAGP RGD:713765802 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0002861 RGD:8554872 IAGP RGD:713765825 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0002861 RGD:8554872 IAGP RGD:713765838 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0002861 RGD:8554872 IAGP RGD:713765878 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0003189 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0003429 PMID:25741868|RGD:8554872 IAGP RGD:151348715 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0003577 MIM:620253|PMID:25090642|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0003581 PMID:25741868|RGD:8554872 IAGP RGD:713959343 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0003596 MIM:620253|PMID:25090642|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0003621 MIM:620253|PMID:25090642|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0004209 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0004467 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0005280 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0005528 PMID:25741868|RGD:8554872 IAGP RGD:713959343 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0006770 RGD:8554872 IAGP RGD:713765767 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0006915 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0007021 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0007099 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0008445 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0009765 PMID:25741868|RGD:8554872 IAGP RGD:151348715 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0009778 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0009917 MIM:620253|PMID:25090642|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0010055 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0011304 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0011462 MIM:620253|PMID:25090642|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0011463 MIM:620253|PMID:25090642|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0011797 RGD:8554872 IAGP RGD:714261774 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0011797 RGD:8554872 IAGP RGD:714261781 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0011800 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0012125 RGD:8554872 IAGP RGD:9687058 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250708 ClinVar RGD 1312585 TRPM3 HP:0012469 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0012759 PMID:25741868|PMID:31278393|RGD:8554872 IAGP RGD:714119848 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0030891 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0031491 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0031936 MIM:620224|PMID:31278393|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20250912 HPO RGD 1312585 TRPM3 HP:0100242 RGD:8554872 IAGP RGD:713765735 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0100526 RGD:8554872 IAGP RGD:713765859 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312585 TRPM3 HP:0100543 PMID:25741868|RGD:8554872 IAGP RGD:714059500 H transient receptor potential cation channel subfamily M member 3 gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000006 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000010 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000028 ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20230821 HPO RGD 1312590 KAT6A HP:0000028 PMID:25741868|RGD:8554872 IAGP RGD:730468093 H lysine acetyltransferase 6A gene taxon:9606 20260616 ClinVar RGD 1312590 KAT6A HP:0000126 MIM:616268|ORPHA:457193|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000154 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000154 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:12895244 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000160 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000160 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0000160 PMID:25741868|RGD:8554872 IAGP RGD:40814131 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000175 MIM:616268|ORPHA:457193|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000189 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0000194 PMID:25741868|RGD:8554872 IAGP RGD:730468093 H lysine acetyltransferase 6A gene taxon:9606 20260616 ClinVar RGD 1312590 KAT6A HP:0000202 PMID:25741868|RGD:8554872 IAGP RGD:150545553 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000219 MIM:616268|ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250416 HPO RGD 1312590 KAT6A HP:0000219 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0000219 PMID:25741868|RGD:8554872 IAGP RGD:40814128 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000252 MIM:616268|ORPHA:457193|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000252 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0000252 PMID:25728777|RGD:8554872 IAGP RGD:9850505 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000252 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243050619 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:152979559 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:156253677 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:405852643 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000256 RGD:8554872 IAGP RGD:408393632 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000276 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000278 RGD:8554872 IAGP RGD:408393632 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000286 MIM:616268|ORPHA:457193|PMID:25728775|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000286 PMID:25741868|RGD:8554872 IAGP RGD:150545553 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000286 PMID:25741868|RGD:8554872 IAGP RGD:40814128 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000303 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000307 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000308 MIM:616268|ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250416 HPO RGD 1312590 KAT6A HP:0000316 PMID:25741868|RGD:8554872 IAGP RGD:151347950 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000322 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000324 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000324 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0000325 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000341 MIM:616268|ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250416 HPO RGD 1312590 KAT6A HP:0000341 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0000347 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0000358 MIM:616268|ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250416 HPO RGD 1312590 KAT6A HP:0000358 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0000369 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000369 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:12895244 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000385 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000389 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000395 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000403 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000411 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0000426 MIM:616268|ORPHA:457193|PMID:25728775|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000431 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:12895244 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000437 PMID:25741868|RGD:8554872 IAGP RGD:151347950 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000448 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:12895244 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000455 MIM:616268|ORPHA:457193|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000456 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000463 PMID:25741868|RGD:8554872 IAGP RGD:151347950 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000465 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000474 RGD:8554872 IAGP RGD:408393632 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000483 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000486 MIM:616268|ORPHA:457193|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000486 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0000490 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000494 RGD:8554872 IAGP RGD:40886954 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000496 RGD:8554872 IAGP RGD:151235481 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000508 MIM:616268|ORPHA:457193|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000509 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000520 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000540 PMID:25741868|RGD:8554872 IAGP RGD:730468093 H lysine acetyltransferase 6A gene taxon:9606 20260616 ClinVar RGD 1312590 KAT6A HP:0000540 RGD:8554872 IAGP RGD:25321354 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000545 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000565 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000592 PMID:25741868|RGD:8554872 IAGP RGD:730468093 H lysine acetyltransferase 6A gene taxon:9606 20260616 ClinVar RGD 1312590 KAT6A HP:0000646 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000648 MIM:616268|ORPHA:457193|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:405866549 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:405866656 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000708 RGD:8554872 IAGP RGD:401860485 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000717 RGD:8554872 IAGP RGD:151662271 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000718 PMID:25741868|RGD:8554872 IAGP RGD:730467888 H lysine acetyltransferase 6A gene taxon:9606 20260609 ClinVar RGD 1312590 KAT6A HP:0000729 MIM:616268|PMID:25728775|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000729 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:156435153 H lysine acetyltransferase 6A gene taxon:9606 20230307 ClinVar RGD 1312590 KAT6A HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:405852643 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000729 RGD:8554872 IAGP RGD:151235481 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000729 RGD:8554872 IAGP RGD:42723475 H lysine acetyltransferase 6A gene taxon:9606 20260602 ClinVar RGD 1312590 KAT6A HP:0000733 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000736 RGD:8554872 IAGP RGD:151235481 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000739 PMID:25741868|RGD:8554872 IAGP RGD:40814131 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000739 RGD:8554872 IAGP RGD:151235481 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:152979559 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:730468093 H lysine acetyltransferase 6A gene taxon:9606 20260616 ClinVar RGD 1312590 KAT6A HP:0000750 RGD:8554872 IAGP RGD:152155283 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000752 PMID:25741868|RGD:8554872 IAGP RGD:243055993 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000767 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000774 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0000821 PMID:25741868|RGD:8554872 IAGP RGD:150545553 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000951 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:12895244 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0000957 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:12895244 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001053 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:12895244 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001156 MIM:616268|ORPHA:457193|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001249 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001249 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:11632999 H lysine acetyltransferase 6A gene taxon:9606 20240319 ClinVar RGD 1312590 KAT6A HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13828984 H lysine acetyltransferase 6A gene taxon:9606 20230214 ClinVar RGD 1312590 KAT6A HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38596466 H lysine acetyltransferase 6A gene taxon:9606 20230214 ClinVar RGD 1312590 KAT6A HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38596467 H lysine acetyltransferase 6A gene taxon:9606 20230214 ClinVar RGD 1312590 KAT6A HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:156253677 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38596468 H lysine acetyltransferase 6A gene taxon:9606 20210323 ClinVar RGD 1312590 KAT6A HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38596469 H lysine acetyltransferase 6A gene taxon:9606 20210323 ClinVar RGD 1312590 KAT6A HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:40814128 H lysine acetyltransferase 6A gene taxon:9606 20210323 ClinVar RGD 1312590 KAT6A HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:40814131 H lysine acetyltransferase 6A gene taxon:9606 20210323 ClinVar RGD 1312590 KAT6A HP:0001249 PMID:28492532|RGD:8554872 IAGP RGD:150338412 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001249 RGD:8554872 IAGP RGD:151662271 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001249 RGD:8554872 IAGP RGD:713888918 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001249 RGD:8554872 IAGP RGD:713888934 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001249 RGD:8554872 IAGP RGD:714062596 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001250 MIM:616268|ORPHA:457193|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001250 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:12895244 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:405852643 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:40814128 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:40814129 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:150338412 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:153301160 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001250 RGD:8554872 IAGP RGD:151662271 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001252 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:730467888 H lysine acetyltransferase 6A gene taxon:9606 20260609 ClinVar RGD 1312590 KAT6A HP:0001252 PMID:28492532|RGD:8554872 IAGP RGD:151663767 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001252 RGD:8554872 IAGP RGD:736707313 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001263 MIM:616268|ORPHA:457193|PMID:25728775|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001263 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001263 PMID:17374998|RGD:8554872 IAGP RGD:40887219 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001263 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:12895244 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001263 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243050619 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:127327153 H lysine acetyltransferase 6A gene taxon:9606 20210706 ClinVar RGD 1312590 KAT6A HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:151347950 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:152979559 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:405852643 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:730467888 H lysine acetyltransferase 6A gene taxon:9606 20260609 ClinVar RGD 1312590 KAT6A HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:730468093 H lysine acetyltransferase 6A gene taxon:9606 20260616 ClinVar RGD 1312590 KAT6A HP:0001263 PMID:28492532|RGD:8554872 IAGP RGD:151663767 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001263 RGD:8554872 IAGP RGD:401860485 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001263 RGD:8554872 IAGP RGD:40887025 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001263 RGD:8554872 IAGP RGD:736707313 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:713623915 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:730468093 H lysine acetyltransferase 6A gene taxon:9606 20260616 ClinVar RGD 1312590 KAT6A HP:0001276 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001290 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:151347950 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001290 RGD:8554872 IAGP RGD:151235481 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001305 PMID:28492532|RGD:8554872 IAGP RGD:150338412 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001319 MIM:616268|ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250416 HPO RGD 1312590 KAT6A HP:0001319 PMID:25741868|RGD:8554872 IAGP RGD:40814131 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001332 MIM:616268|ORPHA:457193|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001338 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001344 MIM:616268|PMID:25728775|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001344 PMID:28492532|RGD:8554872 IAGP RGD:151663767 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001347 RGD:8554872 IAGP RGD:401860485 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001348 RGD:8554872 IAGP RGD:40887191 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001357 MIM:616268|ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250416 HPO RGD 1312590 KAT6A HP:0001357 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243050619 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001363 MIM:616268|ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250416 HPO RGD 1312590 KAT6A HP:0001363 PMID:25741868|PMID:30245513|PMID:31292255|RGD:8554872 IAGP RGD:11577887 H lysine acetyltransferase 6A gene taxon:9606 20230110 ClinVar RGD 1312590 KAT6A HP:0001402 RGD:8554872 IAGP RGD:714086135 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001480 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001488 RGD:8554872 IAGP RGD:713888918 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001508 PMID:28492532|RGD:8554872 IAGP RGD:151663767 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001508 RGD:8554872 IAGP RGD:736707313 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001510 MIM:616268|ORPHA:457193|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001511 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001511 PMID:28492532|RGD:8554872 IAGP RGD:151663767 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001513 PMID:25741868|RGD:8554872 IAGP RGD:730467888 H lysine acetyltransferase 6A gene taxon:9606 20260609 ClinVar RGD 1312590 KAT6A HP:0001531 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001538 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001544 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001601 ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20230821 HPO RGD 1312590 KAT6A HP:0001622 RGD:8554872 IAGP RGD:736707313 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001627 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001629 MIM:616268|ORPHA:457193|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001629 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001629 PMID:28492532|RGD:8554872 IAGP RGD:150338412 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001629 RGD:8554872 IAGP RGD:408393632 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001631 MIM:616268|ORPHA:457193|PMID:25728775|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001631 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001636 RGD:8554872 IAGP RGD:408393632 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001642 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001643 MIM:616268|ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250416 HPO RGD 1312590 KAT6A HP:0001650 RGD:8554872 IAGP RGD:713888918 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001655 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001657 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001684 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001763 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001765 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001773 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001800 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:12895244 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001845 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001852 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0001903 RGD:8554872 IAGP RGD:736707313 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001999 ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20230821 HPO RGD 1312590 KAT6A HP:0001999 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0001999 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:12895244 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:150545553 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:151347950 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:156253677 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0001999 RGD:8554872 IAGP RGD:401860485 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0002007 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0002007 PMID:28492532|RGD:8554872 IAGP RGD:151663767 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0002015 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0002020 MIM:616268|ORPHA:457193|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0002020 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0002079 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0002079 PMID:25741868|RGD:8554872 IAGP RGD:156253677 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0002098 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0002100 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0002136 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0002141 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0002141 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0002186 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0002205 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0002209 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0002342 PMID:25741868|RGD:8554872 IAGP RGD:40814128 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0002342 PMID:25741868|RGD:8554872 IAGP RGD:40814130 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0002360 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20260209 HPO RGD 1312590 KAT6A HP:0002465 ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20230821 HPO RGD 1312590 KAT6A HP:0002553 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0002558 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:12895244 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0002558 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243050619 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0002558 PMID:25741868|RGD:8554872 IAGP RGD:11632433 H lysine acetyltransferase 6A gene taxon:9606 20260602 ClinVar RGD 1312590 KAT6A HP:0002562 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0002566 MIM:616268|ORPHA:457193|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0002579 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0002623 RGD:8554872 IAGP RGD:408393632 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0002643 MIM:616268|ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250416 HPO RGD 1312590 KAT6A HP:0002665 RGD:8554872 IAGP RGD:714051827 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0002699 RGD:8554872 IAGP RGD:401860485 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0002714 MIM:616268|ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250416 HPO RGD 1312590 KAT6A HP:0002757 PMID:25741868|RGD:8554872 IAGP RGD:730468093 H lysine acetyltransferase 6A gene taxon:9606 20260616 ClinVar RGD 1312590 KAT6A HP:0002780 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0002857 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0002970 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0003066 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0003186 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0003552 ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20230821 HPO RGD 1312590 KAT6A HP:0003577 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0003764 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:12895244 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0004209 PMID:25741868|RGD:8554872 IAGP RGD:151347950 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0004322 ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20230821 HPO RGD 1312590 KAT6A HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:156253677 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0004325 RGD:8554872 IAGP RGD:736707313 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0004389 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0004420 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0004467 ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20230821 HPO RGD 1312590 KAT6A HP:0004467 PMID:25741868|RGD:8554872 IAGP RGD:151347950 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0004484 PMID:25741868|RGD:8554872 IAGP RGD:405852643 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0004488 RGD:8554872 IAGP RGD:408393632 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0004808 RGD:8554872 IAGP RGD:713612576 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0005105 PMID:25741868|RGD:8554872 IAGP RGD:730468093 H lysine acetyltransferase 6A gene taxon:9606 20260616 ClinVar RGD 1312590 KAT6A HP:0005274 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0005280 PMID:25741868|RGD:8554872 IAGP RGD:150545553 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0005306 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:12895244 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0005989 PMID:25741868|RGD:8554872 IAGP RGD:150545553 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0006185 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0006191 PMID:25741868|RGD:8554872 IAGP RGD:151347950 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0006342 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0006579 PMID:25741868|RGD:8554872 IAGP RGD:243055993 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0006610 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0006610 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0006610 RGD:8554872 IAGP RGD:40886720 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0006770 RGD:8554872 IAGP RGD:714051822 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0006895 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0007018 PMID:25741868|RGD:8554872 IAGP RGD:40814128 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0007210 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0007565 RGD:8554872 IAGP RGD:151235481 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0007678 MIM:616268|ORPHA:457193|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0008593 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0008689 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0008897 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243050619 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0008936 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0009129 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0009765 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0009907 PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993|RGD:8554872 IAGP RGD:12895244 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0010051 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0010109 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0010490 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0010864 ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20230821 HPO RGD 1312590 KAT6A HP:0010878 RGD:8554872 IAGP RGD:408393632 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0010880 RGD:8554872 IAGP RGD:408393632 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0010942 RGD:8554872 IAGP RGD:408393632 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0011272 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0011451 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0011648 RGD:8554872 IAGP RGD:713888918 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0011679 RGD:8554872 IAGP RGD:408393632 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0011797 RGD:8554872 IAGP RGD:713494302 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0011797 RGD:8554872 IAGP RGD:713608626 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0011797 RGD:8554872 IAGP RGD:713608641 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0011800 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0011800 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0011939 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0011968 MIM:616268|ORPHA:457193|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0011968 PMID:25741868|RGD:8554872 IAGP RGD:40814131 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0012126 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15194342 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0012126 RGD:8554872 IAGP RGD:713675834 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0012430 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0012724 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0012741 RGD:8554872 IAGP RGD:713888918 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0012745 RGD:8554872 IAGP RGD:713888918 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:405852643 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0012759 RGD:8554872 IAGP RGD:40889640 H lysine acetyltransferase 6A gene taxon:9606 20210323 ClinVar RGD 1312590 KAT6A HP:0020045 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0025068 RGD:8554872 IAGP RGD:713888918 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0025325 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0025336 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0030359 RGD:8554872 IAGP RGD:714051831 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0030713 PMID:30578106|RGD:8554872 IAGP RGD:13211863 H lysine acetyltransferase 6A gene taxon:9606 20220420 ClinVar RGD 1312590 KAT6A HP:0031936 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0034250 RGD:8554872 IAGP RGD:408393632 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0040080 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0041081 PMID:25741868|RGD:8554872 IAGP RGD:730468093 H lysine acetyltransferase 6A gene taxon:9606 20260616 ClinVar RGD 1312590 KAT6A HP:0045074 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0100242 RGD:8554872 IAGP RGD:714051849 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0100522 PMID:25741868|RGD:8554872 IAGP RGD:150488119 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0100526 PMID:28492532|RGD:8554872 IAGP RGD:714081123 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312590 KAT6A HP:0100543 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0100559 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0100704 MIM:616268|ORPHA:457193|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250416 HPO RGD 1312590 KAT6A HP:0100785 MIM:616268|PMID:25728775|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0100807 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0100818 MIM:616268|PMID:32041641|RGD:8699517 IAGP H lysine acetyltransferase 6A gene taxon:9606 20250912 HPO RGD 1312590 KAT6A HP:0200055 PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409|RGD:8554872 IAGP RGD:10041987 H lysine acetyltransferase 6A gene taxon:9606 20260707 ClinVar RGD 1312590 KAT6A HP:0200136 RGD:8554872 IAGP RGD:151235481 H lysine acetyltransferase 6A gene taxon:9606 20260519 ClinVar RGD 1312592 CCR8 HP:0004808 RGD:8554872 IAGP RGD:713734511 H C-C motif chemokine receptor 8 gene taxon:9606 20260519 ClinVar RGD 1312592 CCR8 HP:0012126 RGD:8554872 IAGP RGD:713935473 H C-C motif chemokine receptor 8 gene taxon:9606 20260519 ClinVar RGD 1312594 CLCA2 HP:0100526 RGD:8554872 IAGP RGD:713577115 H chloride channel accessory 2 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0001402 RGD:8554872 IAGP RGD:713720589 H DEAD-box helicase 31 gene taxon:9606 20260707 ClinVar RGD 1312596 DDX31 HP:0001402 RGD:8554872 IAGP RGD:714157079 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0002861 RGD:8554872 IAGP RGD:713557917 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0002861 RGD:8554872 IAGP RGD:713688804 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0006770 RGD:8554872 IAGP RGD:713506920 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0006770 RGD:8554872 IAGP RGD:713557979 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0011797 RGD:8554872 IAGP RGD:713512622 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0011797 RGD:8554872 IAGP RGD:714256962 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0011797 RGD:8554872 IAGP RGD:714256969 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0012126 RGD:8554872 IAGP RGD:713720503 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0012126 RGD:8554872 IAGP RGD:713720518 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0100242 RGD:8554872 IAGP RGD:713557963 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0100242 RGD:8554872 IAGP RGD:713720589 H DEAD-box helicase 31 gene taxon:9606 20260707 ClinVar RGD 1312596 DDX31 HP:0100522 RGD:8554872 IAGP RGD:713720589 H DEAD-box helicase 31 gene taxon:9606 20260707 ClinVar RGD 1312596 DDX31 HP:0100522 RGD:8554872 IAGP RGD:714256943 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0100522 RGD:8554872 IAGP RGD:714256950 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0100526 RGD:8554872 IAGP RGD:713558006 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0100526 RGD:8554872 IAGP RGD:713558097 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0100526 RGD:8554872 IAGP RGD:713720589 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312596 DDX31 HP:0100615 RGD:8554872 IAGP RGD:713558080 H DEAD-box helicase 31 gene taxon:9606 20260519 ClinVar RGD 1312599 RPL23A HP:0002861 RGD:8554872 IAGP RGD:714172923 H ribosomal protein L23a gene taxon:9606 20260519 ClinVar RGD 1312599 RPL23A HP:0003003 RGD:8554872 IAGP RGD:714172902 H ribosomal protein L23a gene taxon:9606 20260519 ClinVar RGD 1312599 RPL23A HP:0011797 RGD:8554872 IAGP RGD:713667395 H ribosomal protein L23a gene taxon:9606 20260519 ClinVar RGD 1312599 RPL23A HP:0100522 RGD:8554872 IAGP RGD:714172897 H ribosomal protein L23a gene taxon:9606 20260519 ClinVar RGD 1312599 RPL23A HP:0100526 RGD:8554872 IAGP RGD:714172916 H ribosomal protein L23a gene taxon:9606 20260519 ClinVar RGD 1312601 PRTN3 HP:0000024 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000071 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000083 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000093 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000099 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20241212 HPO RGD 1312601 PRTN3 HP:0000126 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000163 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000246 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000366 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000388 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000389 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000407 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000421 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000488 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000491 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20241212 HPO RGD 1312601 PRTN3 HP:0000505 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000520 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000579 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20241212 HPO RGD 1312601 PRTN3 HP:0000763 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000790 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000822 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000864 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000873 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000979 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0000988 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0001250 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0001287 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0001369 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20240815 HPO RGD 1312601 PRTN3 HP:0001607 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20241212 HPO RGD 1312601 PRTN3 HP:0001681 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0001701 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0001733 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0001824 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0001945 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002017 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002027 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002091 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002093 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002102 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002105 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002113 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002202 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20241212 HPO RGD 1312601 PRTN3 HP:0002205 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002206 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002239 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002301 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002315 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002633 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002637 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002829 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002955 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0002960 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0003326 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0003565 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0004808 RGD:8554872 IAGP RGD:713829583 H proteinase 3 gene taxon:9606 20260519 ClinVar RGD 1312601 PRTN3 HP:0004936 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0005214 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0005764 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20240815 HPO RGD 1312601 PRTN3 HP:0006510 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0006535 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0006824 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0009830 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0011227 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0011675 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0012378 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0012649 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0012735 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0025420 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20241212 HPO RGD 1312601 PRTN3 HP:0032230 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20240815 HPO RGD 1312601 PRTN3 HP:0033557 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20240815 HPO RGD 1312601 PRTN3 HP:0033559 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20240815 HPO RGD 1312601 PRTN3 HP:0033608 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20241212 HPO RGD 1312601 PRTN3 HP:0034104 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20240815 HPO RGD 1312601 PRTN3 HP:0100526 RGD:8554872 IAGP RGD:713689696 H proteinase 3 gene taxon:9606 20260519 ClinVar RGD 1312601 PRTN3 HP:0100532 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20241212 HPO RGD 1312601 PRTN3 HP:0100533 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0100539 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0100749 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0100758 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0100820 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0200034 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312601 PRTN3 HP:0200042 ORPHA:900|RGD:8699517 IAGP H proteinase 3 gene taxon:9606 20230821 HPO RGD 1312603 MYT1 HP:0000729 RGD:8554872 IAGP RGD:42723500 H myelin transcription factor 1 gene taxon:9606 20260602 ClinVar RGD 1312603 MYT1 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38596769 H myelin transcription factor 1 gene taxon:9606 20210323 ClinVar RGD 1312603 MYT1 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38596770 H myelin transcription factor 1 gene taxon:9606 20210323 ClinVar RGD 1312603 MYT1 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38596771 H myelin transcription factor 1 gene taxon:9606 20210323 ClinVar RGD 1312603 MYT1 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:40814754 H myelin transcription factor 1 gene taxon:9606 20210323 ClinVar RGD 1312603 MYT1 HP:0002861 RGD:8554872 IAGP RGD:713976880 H myelin transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1312603 MYT1 HP:0004808 RGD:8554872 IAGP RGD:713964928 H myelin transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1312603 MYT1 HP:0004808 RGD:8554872 IAGP RGD:713964935 H myelin transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1312603 MYT1 HP:0004808 RGD:8554872 IAGP RGD:713969273 H myelin transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1312603 MYT1 HP:0100242 RGD:8554872 IAGP RGD:713969273 H myelin transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1312603 MYT1 HP:0100526 RGD:8554872 IAGP RGD:713976846 H myelin transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1312605 ZNF598 HP:0001402 RGD:8554872 IAGP RGD:713355632 H zinc finger protein 598, E3 ubiquitin ligase gene taxon:9606 20260519 ClinVar RGD 1312605 ZNF598 HP:0002861 RGD:8554872 IAGP RGD:714040746 H zinc finger protein 598, E3 ubiquitin ligase gene taxon:9606 20260519 ClinVar RGD 1312605 ZNF598 HP:0007716 RGD:8554872 IAGP RGD:713794383 H zinc finger protein 598, E3 ubiquitin ligase gene taxon:9606 20260707 ClinVar RGD 1312605 ZNF598 HP:0012126 RGD:8554872 IAGP RGD:713794383 H zinc finger protein 598, E3 ubiquitin ligase gene taxon:9606 20260707 ClinVar RGD 1312605 ZNF598 HP:0012126 RGD:8554872 IAGP RGD:713961651 H zinc finger protein 598, E3 ubiquitin ligase gene taxon:9606 20260519 ClinVar RGD 1312605 ZNF598 HP:0012126 RGD:8554872 IAGP RGD:713961654 H zinc finger protein 598, E3 ubiquitin ligase gene taxon:9606 20260519 ClinVar RGD 1312605 ZNF598 HP:0030153 RGD:8554872 IAGP RGD:713794383 H zinc finger protein 598, E3 ubiquitin ligase gene taxon:9606 20260707 ClinVar RGD 1312605 ZNF598 HP:0100242 RGD:8554872 IAGP RGD:713961654 H zinc finger protein 598, E3 ubiquitin ligase gene taxon:9606 20260519 ClinVar RGD 1312605 ZNF598 HP:0100242 RGD:8554872 IAGP RGD:714040712 H zinc finger protein 598, E3 ubiquitin ligase gene taxon:9606 20260519 ClinVar RGD 1312605 ZNF598 HP:0100522 RGD:8554872 IAGP RGD:713794383 H zinc finger protein 598, E3 ubiquitin ligase gene taxon:9606 20260519 ClinVar RGD 1312605 ZNF598 HP:0100522 RGD:8554872 IAGP RGD:714040895 H zinc finger protein 598, E3 ubiquitin ligase gene taxon:9606 20260519 ClinVar RGD 1312605 ZNF598 HP:0100526 RGD:8554872 IAGP RGD:713961654 H zinc finger protein 598, E3 ubiquitin ligase gene taxon:9606 20260519 ClinVar RGD 1312607 TRPM1 HP:0000007 MIM:613216|PMID:19896109|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20260209 HPO RGD 1312607 TRPM1 HP:0000486 MIM:613216|PMID:19896113|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20260209 HPO RGD 1312607 TRPM1 HP:0000510 PMID:28492532|PMID:30718709|RGD:8554872 IAGP RGD:14698559 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20220420 ClinVar RGD 1312607 TRPM1 HP:0000512 MIM:613216|PMID:19878917|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250912 HPO RGD 1312607 TRPM1 HP:0000512 RGD:7175555|PMID:19878917 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20180102 RGD RGD 1312607 TRPM1 HP:0000512 RGD:7183084|PMID:19896109 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20180103 RGD RGD 1312607 TRPM1 HP:0000512 RGD:7183085|PMID:19896113 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20180103 RGD RGD 1312607 TRPM1 HP:0000545 MIM:613216|PMID:19896109|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20260209 HPO RGD 1312607 TRPM1 HP:0000556 PMID:16199547|PMID:19896113|PMID:19966281|PMID:20300565|PMID:23714322|PMID:25741868|PMID:28492532|PMID:32141364|PMID:34426522|PMID:35119454|RGD:8554872 IAGP RGD:26909916 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250107 ClinVar RGD 1312607 TRPM1 HP:0000556 PMID:17576681|PMID:20300565|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151892719 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250107 ClinVar RGD 1312607 TRPM1 HP:0000556 PMID:19896109|PMID:19896113|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29522070|PMID:30487145|PMID:31589614|PMID:32856788|PMID:35456422|PMID:35633130|RGD:8554872 IAGP RGD:8597076 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20260519 ClinVar RGD 1312607 TRPM1 HP:0000556 PMID:19896113|PMID:25741868|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29522070|PMID:34426522|PMID:35456422|PMID:35567543|PMID:35633130|PMID:37734845|PMID:39462066|RGD:8554872 IAGP RGD:26903797 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20260519 ClinVar RGD 1312607 TRPM1 HP:0000556 PMID:25307992|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38470787 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250107 ClinVar RGD 1312607 TRPM1 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126912940 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250729 ClinVar RGD 1312607 TRPM1 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15152853 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250107 ClinVar RGD 1312607 TRPM1 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151825507 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250107 ClinVar RGD 1312607 TRPM1 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939148 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250107 ClinVar RGD 1312607 TRPM1 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939486 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250107 ClinVar RGD 1312607 TRPM1 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939634 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250107 ClinVar RGD 1312607 TRPM1 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939670 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250107 ClinVar RGD 1312607 TRPM1 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941753 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250107 ClinVar RGD 1312607 TRPM1 HP:0000556 RGD:8554872 IAGP RGD:26910271 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20210323 ClinVar RGD 1312607 TRPM1 HP:0000556 RGD:8554872 IAGP RGD:8597077 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20260602 ClinVar RGD 1312607 TRPM1 HP:0000639 MIM:613216|PMID:19896109|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20260209 HPO RGD 1312607 TRPM1 HP:0000648 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10050556 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250107 ClinVar RGD 1312607 TRPM1 HP:0000648 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11617747 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250107 ClinVar RGD 1312607 TRPM1 HP:0000648 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38464440 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250107 ClinVar RGD 1312607 TRPM1 HP:0000662 RGD:7175555|PMID:19878917 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20180102 RGD RGD 1312607 TRPM1 HP:0000662 RGD:7183084|PMID:19896109 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20180103 RGD RGD 1312607 TRPM1 HP:0000662 RGD:7183085|PMID:19896113 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20180103 RGD RGD 1312607 TRPM1 HP:0000958 MIM:613216|PMID:19878917|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250912 HPO RGD 1312607 TRPM1 HP:0001000 MIM:613216|PMID:19878917|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250912 HPO RGD 1312607 TRPM1 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:39457089 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20210323 ClinVar RGD 1312607 TRPM1 HP:0002155 RGD:7175561|PMID:21439949 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20121212 RGD RGD 1312607 TRPM1 HP:0002861 RGD:8554872 IAGP RGD:713556900 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20260519 ClinVar RGD 1312607 TRPM1 HP:0002861 RGD:8554872 IAGP RGD:713556913 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20260519 ClinVar RGD 1312607 TRPM1 HP:0002888 RGD:8554872 IAGP RGD:13506425 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20210323 ClinVar RGD 1312607 TRPM1 HP:0007642 MIM:613216|PMID:19896109|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20250912 HPO RGD 1312607 TRPM1 HP:0007642 PMID:17576681|PMID:27803854|PMID:28041643|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13435094 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20230214 ClinVar RGD 1312607 TRPM1 HP:0007642 PMID:19896113|PMID:25741868|PMID:33691579|RGD:8554872 IAGP RGD:12907374 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20260707 ClinVar RGD 1312607 TRPM1 HP:0007642 RGD:8554872 IAGP RGD:13434990 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20260602 ClinVar RGD 1312607 TRPM1 HP:0007642 RGD:8554872 IAGP RGD:13435186 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20260602 ClinVar RGD 1312607 TRPM1 HP:0007642 RGD:8554872 IAGP RGD:21405199 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20210323 ClinVar RGD 1312607 TRPM1 HP:0007663 MIM:613216|PMID:19896109|RGD:8699517 IAGP H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20260209 HPO RGD 1312607 TRPM1 HP:0007716 RGD:8554872 IAGP RGD:714012674 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20260519 ClinVar RGD 1312607 TRPM1 HP:0012126 RGD:8554872 IAGP RGD:713957517 H transient receptor potential cation channel subfamily M member 1 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0000007 MIM:617395|PMID:24784932|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20250912 HPO RGD 1312615 COG2 HP:0000717 RGD:8554872 IAGP RGD:42723761 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0000750 RGD:8554872 IAGP RGD:42723761 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0001249 ORPHA:435934|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20230821 HPO RGD 1312615 COG2 HP:0001249 RGD:8554872 IAGP RGD:42723761 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0001250 RGD:8554872 IAGP RGD:42723761 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0001252 MIM:617395|PMID:24784932|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20250912 HPO RGD 1312615 COG2 HP:0001252 RGD:8554872 IAGP RGD:42723761 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0001263 MIM:617395|PMID:24784932|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20250912 HPO RGD 1312615 COG2 HP:0001402 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127296056 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0001402 RGD:8554872 IAGP RGD:713351360 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0001402 RGD:8554872 IAGP RGD:714159265 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0001402 RGD:8554872 IAGP RGD:714159276 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0001410 ORPHA:435934|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20230821 HPO RGD 1312615 COG2 HP:0001999 ORPHA:435934|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20230821 HPO RGD 1312615 COG2 HP:0002079 MIM:617395|ORPHA:435934|PMID:24784932|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20250912 HPO RGD 1312615 COG2 HP:0002361 ORPHA:435934|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20230821 HPO RGD 1312615 COG2 HP:0002506 MIM:617395|ORPHA:435934|PMID:24784932|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20250912 HPO RGD 1312615 COG2 HP:0002510 MIM:617395|ORPHA:435934|PMID:24784932|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20250912 HPO RGD 1312615 COG2 HP:0002910 MIM:617395|PMID:24784932|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20250912 HPO RGD 1312615 COG2 HP:0003003 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127296056 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0003256 ORPHA:435934|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20230821 HPO RGD 1312615 COG2 HP:0003593 MIM:617395|PMID:24784932|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20250912 HPO RGD 1312615 COG2 HP:0004808 PMID:28492532|RGD:8554872 IAGP RGD:15130132 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0004808 RGD:8554872 IAGP RGD:150441920 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0004808 RGD:8554872 IAGP RGD:714041897 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0004808 RGD:8554872 IAGP RGD:714044514 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0005484 MIM:617395|ORPHA:435934|PMID:24784932|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20250912 HPO RGD 1312615 COG2 HP:0006770 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127296056 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0007716 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127296056 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0010818 MIM:617395|ORPHA:435934|PMID:24784932|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20250912 HPO RGD 1312615 COG2 HP:0010837 MIM:617395|ORPHA:435934|PMID:24784932|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20250912 HPO RGD 1312615 COG2 HP:0011797 RGD:8554872 IAGP RGD:714044590 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0011797 RGD:8554872 IAGP RGD:714044626 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0011967 MIM:617395|ORPHA:435934|PMID:24784932|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20250912 HPO RGD 1312615 COG2 HP:0012126 RGD:8554872 IAGP RGD:150441920 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0012126 RGD:8554872 IAGP RGD:150446669 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0012345 MIM:617395|PMID:24784932|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20250912 HPO RGD 1312615 COG2 HP:0012506 MIM:617395|ORPHA:435934|PMID:24784932|RGD:8699517 IAGP H component of oligomeric golgi complex 2 gene taxon:9606 20250912 HPO RGD 1312615 COG2 HP:0030153 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127296056 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0030359 RGD:8554872 IAGP RGD:713834712 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0030359 RGD:8554872 IAGP RGD:713834775 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0100242 RGD:8554872 IAGP RGD:150441920 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0100242 RGD:8554872 IAGP RGD:713835698 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0100522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127296056 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312615 COG2 HP:0100526 RGD:8554872 IAGP RGD:713837412 H component of oligomeric golgi complex 2 gene taxon:9606 20260519 ClinVar RGD 1312617 CENPH HP:0001402 RGD:8554872 IAGP RGD:714077111 H centromere protein H gene taxon:9606 20260519 ClinVar RGD 1312617 CENPH HP:0002861 RGD:8554872 IAGP RGD:713473180 H centromere protein H gene taxon:9606 20260519 ClinVar RGD 1312617 CENPH HP:0004808 RGD:8554872 IAGP RGD:714161381 H centromere protein H gene taxon:9606 20260519 ClinVar RGD 1312617 CENPH HP:0004808 RGD:8554872 IAGP RGD:714163645 H centromere protein H gene taxon:9606 20260519 ClinVar RGD 1312617 CENPH HP:0011797 RGD:8554872 IAGP RGD:714161371 H centromere protein H gene taxon:9606 20260519 ClinVar RGD 1312617 CENPH HP:0030153 RGD:8554872 IAGP RGD:714161375 H centromere protein H gene taxon:9606 20260519 ClinVar RGD 1312617 CENPH HP:0030359 RGD:8554872 IAGP RGD:713473244 H centromere protein H gene taxon:9606 20260519 ClinVar RGD 1312617 CENPH HP:0100242 RGD:8554872 IAGP RGD:713473202 H centromere protein H gene taxon:9606 20260519 ClinVar RGD 1312617 CENPH HP:0100242 RGD:8554872 IAGP RGD:713473230 H centromere protein H gene taxon:9606 20260519 ClinVar RGD 1312617 CENPH HP:0100242 RGD:8554872 IAGP RGD:713473277 H centromere protein H gene taxon:9606 20260519 ClinVar RGD 1312617 CENPH HP:0100242 RGD:8554872 IAGP RGD:714161389 H centromere protein H gene taxon:9606 20260707 ClinVar RGD 1312617 CENPH HP:0100522 RGD:8554872 IAGP RGD:714163645 H centromere protein H gene taxon:9606 20260519 ClinVar RGD 1312617 CENPH HP:0100526 RGD:8554872 IAGP RGD:713473217 H centromere protein H gene taxon:9606 20260519 ClinVar RGD 1312617 CENPH HP:0100615 RGD:8554872 IAGP RGD:713473342 H centromere protein H gene taxon:9606 20260519 ClinVar RGD 1312617 CENPH HP:0200067 RGD:8554872 IAGP RGD:38460602 H centromere protein H gene taxon:9606 20210323 ClinVar RGD 1312619 DDX42 HP:0001402 RGD:8554872 IAGP RGD:713358996 H DEAD-box helicase 42 gene taxon:9606 20260519 ClinVar RGD 1312619 DDX42 HP:0001402 RGD:8554872 IAGP RGD:713730877 H DEAD-box helicase 42 gene taxon:9606 20260519 ClinVar RGD 1312619 DDX42 HP:0002861 RGD:8554872 IAGP RGD:714047730 H DEAD-box helicase 42 gene taxon:9606 20260519 ClinVar RGD 1312619 DDX42 HP:0002861 RGD:8554872 IAGP RGD:714047746 H DEAD-box helicase 42 gene taxon:9606 20260519 ClinVar RGD 1312619 DDX42 HP:0004808 RGD:8554872 IAGP RGD:713682266 H DEAD-box helicase 42 gene taxon:9606 20260519 ClinVar RGD 1312619 DDX42 HP:0006770 RGD:8554872 IAGP RGD:714047723 H DEAD-box helicase 42 gene taxon:9606 20260519 ClinVar RGD 1312619 DDX42 HP:0011797 RGD:8554872 IAGP RGD:713709642 H DEAD-box helicase 42 gene taxon:9606 20260519 ClinVar RGD 1312619 DDX42 HP:0100242 RGD:8554872 IAGP RGD:713705938 H DEAD-box helicase 42 gene taxon:9606 20260519 ClinVar RGD 1312619 DDX42 HP:0100242 RGD:8554872 IAGP RGD:713705960 H DEAD-box helicase 42 gene taxon:9606 20260519 ClinVar RGD 1312619 DDX42 HP:0100526 RGD:8554872 IAGP RGD:714047757 H DEAD-box helicase 42 gene taxon:9606 20260519 ClinVar RGD 1312623 LIPM HP:0100242 RGD:8554872 IAGP RGD:713383783 H lipase family member M gene taxon:9606 20260519 ClinVar RGD 1312625 MRPL45 HP:0001402 RGD:8554872 IAGP RGD:713730300 H mitochondrial ribosomal protein L45 gene taxon:9606 20260519 ClinVar RGD 1312625 MRPL45 HP:0030359 RGD:8554872 IAGP RGD:714176744 H mitochondrial ribosomal protein L45 gene taxon:9606 20260519 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|PMID:28492532|PMID:30718709|RGD:8554872 IAGP RGD:14698587 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126913689 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150490058 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155909470 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155973211 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156041757 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156109104 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156260967 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26886225 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26904717 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26917404 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38459067 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38462985 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38491280 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:596942621 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250311 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941700 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941930 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596942057 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596942116 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944825 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:28492532|PMID:28714225|RGD:8554872 IAGP RGD:13462263 H adhesion G protein-coupled receptor A3 gene taxon:9606 20230214 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:127264511 H adhesion G protein-coupled receptor A3 gene taxon:9606 20241112 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:15165783 H adhesion G protein-coupled receptor A3 gene taxon:9606 20241112 ClinVar RGD 1312627 ADGRA3 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:405264505 H adhesion G protein-coupled receptor A3 gene taxon:9606 20260519 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264430 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264432 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264433 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264436 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264437 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264438 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264445 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264447 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264495 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264496 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264499 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264500 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264501 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264503 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264506 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264507 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000556 RGD:8554872 IAGP RGD:405264518 H adhesion G protein-coupled receptor A3 gene taxon:9606 20240409 ClinVar RGD 1312627 ADGRA3 HP:0000648 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150490058 H adhesion G protein-coupled receptor A3 gene taxon:9606 20250107 ClinVar RGD 1312627 ADGRA3 HP:0004808 RGD:8554872 IAGP RGD:713929790 H adhesion G protein-coupled receptor A3 gene taxon:9606 20260519 ClinVar RGD 1312627 ADGRA3 HP:0004808 RGD:8554872 IAGP RGD:713934530 H adhesion G protein-coupled receptor A3 gene taxon:9606 20260519 ClinVar RGD 1312627 ADGRA3 HP:0004808 RGD:8554872 IAGP RGD:713938409 H adhesion G protein-coupled receptor A3 gene taxon:9606 20260519 ClinVar RGD 1312627 ADGRA3 HP:0006725 RGD:8554872 IAGP RGD:714240684 H adhesion G protein-coupled receptor A3 gene taxon:9606 20260519 ClinVar RGD 1312627 ADGRA3 HP:0007677 PMID:28492532|RGD:8554872 IAGP RGD:126753373 H adhesion G protein-coupled receptor A3 gene taxon:9606 20260519 ClinVar RGD 1312627 ADGRA3 HP:0011797 RGD:8554872 IAGP RGD:713927947 H adhesion G protein-coupled receptor A3 gene taxon:9606 20260519 ClinVar RGD 1312627 ADGRA3 HP:0100242 RGD:8554872 IAGP RGD:714240670 H adhesion G protein-coupled receptor A3 gene taxon:9606 20260519 ClinVar RGD 1312627 ADGRA3 HP:0100242 RGD:8554872 IAGP RGD:714240678 H adhesion G protein-coupled receptor A3 gene taxon:9606 20260519 ClinVar RGD 1312627 ADGRA3 HP:0100522 RGD:8554872 IAGP RGD:714240686 H adhesion G protein-coupled receptor A3 gene taxon:9606 20260519 ClinVar RGD 1312627 ADGRA3 HP:0100526 RGD:8554872 IAGP RGD:714240651 H adhesion G protein-coupled receptor A3 gene taxon:9606 20260519 ClinVar RGD 1312627 ADGRA3 HP:0100526 RGD:8554872 IAGP RGD:714240656 H adhesion G protein-coupled receptor A3 gene taxon:9606 20260519 ClinVar RGD 1312629 MRPL42 HP:0002861 RGD:8554872 IAGP RGD:714081284 H mitochondrial ribosomal protein L42 gene taxon:9606 20260519 ClinVar RGD 1312629 MRPL42 HP:0004808 RGD:8554872 IAGP RGD:713659011 H mitochondrial ribosomal protein L42 gene taxon:9606 20260519 ClinVar RGD 1312629 MRPL42 HP:0030153 RGD:8554872 IAGP RGD:714081244 H mitochondrial ribosomal protein L42 gene taxon:9606 20260519 ClinVar RGD 1312629 MRPL42 HP:0100526 RGD:8554872 IAGP RGD:714081262 H mitochondrial ribosomal protein L42 gene taxon:9606 20260519 ClinVar RGD 1312631 OPTC HP:0100242 RGD:8554872 IAGP RGD:713464051 H opticin gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000110 PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597|RGD:8554872 IAGP RGD:8598705 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000135 MIM:302950|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0000135 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000153 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000163 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000252 MIM:302950|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20260209 HPO RGD 1312633 ARSL HP:0000271 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000286 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000306 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000327 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0000365 MIM:302950|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20251023 HPO RGD 1312633 ARSL HP:0000366 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000405 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000410 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0000420 MIM:302950|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0000451 PMID:23470839|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127242737 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000455 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0000457 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0000458 MIM:302950|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0000464 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000492 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000496 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000518 MIM:302950|ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20250416 HPO RGD 1312633 ARSL HP:0000545 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000609 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0000643 PMID:28492532|RGD:8554872 IAGP RGD:597854969 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000704 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000717 PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597|RGD:8554872 IAGP RGD:8598705 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000729 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000736 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000739 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000750 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000823 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000836 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0000919 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0000925 MIM:302950|ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20250416 HPO RGD 1312633 ARSL HP:0000966 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001030 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001249 PMID:28492532|RGD:8554872 IAGP RGD:597854969 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001251 PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597|RGD:8554872 IAGP RGD:8598705 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001251 PMID:28492532|RGD:8554872 IAGP RGD:597854969 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001263 MIM:302950|ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20260209 HPO RGD 1312633 ARSL HP:0001263 PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597|RGD:8554872 IAGP RGD:8598705 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001263 PMID:16199547|PMID:23470839|PMID:25741868|PMID:28492532|PMID:9497243|RGD:8554872 IAGP RGD:152985432 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001290 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001419 MIM:302950|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0001508 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001595 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001629 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0001631 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0001643 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0001646 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001650 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001654 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001680 PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597|RGD:8554872 IAGP RGD:8598705 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001742 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0001789 RGD:8554872 IAGP RGD:8598699 H arylsulfatase L gene taxon:9606 20260602 ClinVar RGD 1312633 ARSL HP:0001857 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0001999 PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597|RGD:8554872 IAGP RGD:8598705 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001999 PMID:16199547|PMID:23470839|PMID:25741868|PMID:28492532|PMID:9497243|RGD:8554872 IAGP RGD:152985432 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0001999 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0002000 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0002019 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0002020 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0002031 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0002099 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0002167 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0002180 PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597|RGD:8554872 IAGP RGD:8598705 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0002205 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0002251 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0002305 PMID:28492532|RGD:8554872 IAGP RGD:597854969 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0002341 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0002463 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0002577 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0002643 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20260209 HPO RGD 1312633 ARSL HP:0002777 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0002787 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0002789 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0002832 PMID:23470839|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127242737 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0002861 RGD:8554872 IAGP RGD:713614405 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0002871 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0002884 PMID:16199547|PMID:23470839|PMID:25741868|PMID:28492532|PMID:9497243|RGD:8554872 IAGP RGD:152985432 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0002947 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0003196 MIM:302950|ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20250416 HPO RGD 1312633 ARSL HP:0003196 PMID:23470839|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127242737 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0003316 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0003320 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0003416 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0003417 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0003467 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0003508 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0003826 RGD:8554872 IAGP RGD:8598699 H arylsulfatase L gene taxon:9606 20260602 ClinVar RGD 1312633 ARSL HP:0004241 PMID:23470839|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127242737 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0004322 MIM:302950|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0004322 PMID:16199547|PMID:23470839|PMID:25741868|PMID:28492532|PMID:9497243|RGD:8554872 IAGP RGD:152985432 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0004322 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:25317252 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0004378 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0004415 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0004695 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0004887 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0005280 MIM:302950|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20260209 HPO RGD 1312633 ARSL HP:0005841 PMID:23470839|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127242737 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0005871 PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597|RGD:8554872 IAGP RGD:8598705 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006482 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006483 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 PMID:25741868|RGD:8554872 IAGP RGD:152984381 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713455562 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713455577 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713455731 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713455919 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713455965 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713456040 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713456097 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713614334 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713614350 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713614391 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713614423 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713614439 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713614453 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713614467 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713614478 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0006770 RGD:8554872 IAGP RGD:713614494 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0007716 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15182165 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0007766 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0008064 MIM:302950|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0008417 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0008420 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0008434 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0008445 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0008469 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0008754 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0008897 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20260209 HPO RGD 1312633 ARSL HP:0009107 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0009830 PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597|RGD:8554872 IAGP RGD:8598705 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0009882 MIM:302950|ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20250416 HPO RGD 1312633 ARSL HP:0009928 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0010171 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0010255 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0010461 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0010646 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0010655 MIM:302950|ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20250416 HPO RGD 1312633 ARSL HP:0010666 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0010674 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0010880 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0011443 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0011800 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0011968 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0011968 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0012048 PMID:28492532|RGD:8554872 IAGP RGD:597854969 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0012113 PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597|RGD:8554872 IAGP RGD:8598705 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0012179 PMID:28492532|RGD:8554872 IAGP RGD:597854969 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0012244 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0012371 PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597|RGD:8554872 IAGP RGD:8598705 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0012379 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0012736 PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597|RGD:8554872 IAGP RGD:8598705 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0012758 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0025426 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:0025707 PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597|RGD:8554872 IAGP RGD:8598705 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0030680 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0031987 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0032152 PMID:16199547|PMID:23470839|PMID:25741868|PMID:28492532|PMID:9497243|RGD:8554872 IAGP RGD:152985432 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0040183 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0100522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15182165 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0100543 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:12843277 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0100543 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:0410014 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312633 ARSL HP:3000052 ORPHA:79345|RGD:8699517 IAGP H arylsulfatase L gene taxon:9606 20230821 HPO RGD 1312633 ARSL HP:5200044 RGD:8554872 IAGP RGD:597832644 H arylsulfatase L gene taxon:9606 20260519 ClinVar RGD 1312636 S100A13 HP:0004808 RGD:8554872 IAGP RGD:713947972 H S100 calcium binding protein A13 gene taxon:9606 20260519 ClinVar RGD 1312636 S100A13 HP:0012126 RGD:8554872 IAGP RGD:714049089 H S100 calcium binding protein A13 gene taxon:9606 20260519 ClinVar RGD 1312636 S100A13 HP:0030153 RGD:8554872 IAGP RGD:713526182 H S100 calcium binding protein A13 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0001402 RGD:8554872 IAGP RGD:155741652 H cell division cycle 27 gene taxon:9606 20221206 ClinVar RGD 1312639 CDC27 HP:0001402 RGD:8554872 IAGP RGD:155741653 H cell division cycle 27 gene taxon:9606 20221206 ClinVar RGD 1312639 CDC27 HP:0001402 RGD:8554872 IAGP RGD:155741707 H cell division cycle 27 gene taxon:9606 20221206 ClinVar RGD 1312639 CDC27 HP:0001402 RGD:8554872 IAGP RGD:713358505 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0002032 RGD:8554872 IAGP RGD:15174175 H cell division cycle 27 gene taxon:9606 20210323 ClinVar RGD 1312639 CDC27 HP:0002861 RGD:8554872 IAGP RGD:714032972 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0003003 RGD:8554872 IAGP RGD:713825457 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0004808 RGD:8554872 IAGP RGD:713680611 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0004808 RGD:8554872 IAGP RGD:713704194 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0004808 RGD:8554872 IAGP RGD:713704205 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0004808 RGD:8554872 IAGP RGD:713708115 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0004808 RGD:8554872 IAGP RGD:713989630 H cell division cycle 27 gene taxon:9606 20260707 ClinVar RGD 1312639 CDC27 HP:0004935 RGD:8554872 IAGP RGD:155958146 H cell division cycle 27 gene taxon:9606 20230214 ClinVar RGD 1312639 CDC27 HP:0006770 RGD:8554872 IAGP RGD:714032933 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0007716 RGD:8554872 IAGP RGD:713795690 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0030153 RGD:8554872 IAGP RGD:713989630 H cell division cycle 27 gene taxon:9606 20260707 ClinVar RGD 1312639 CDC27 HP:0030153 RGD:8554872 IAGP RGD:714032757 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0030153 RGD:8554872 IAGP RGD:714032879 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0030357 RGD:8554872 IAGP RGD:155741652 H cell division cycle 27 gene taxon:9606 20230110 ClinVar RGD 1312639 CDC27 HP:0030357 RGD:8554872 IAGP RGD:155741653 H cell division cycle 27 gene taxon:9606 20230110 ClinVar RGD 1312639 CDC27 HP:0030357 RGD:8554872 IAGP RGD:155741707 H cell division cycle 27 gene taxon:9606 20230110 ClinVar RGD 1312639 CDC27 HP:0030359 RGD:8554872 IAGP RGD:714032732 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0030359 RGD:8554872 IAGP RGD:714032868 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0100242 RGD:8554872 IAGP RGD:713680611 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0100242 RGD:8554872 IAGP RGD:714032902 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0100242 RGD:8554872 IAGP RGD:714032958 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0100522 RGD:8554872 IAGP RGD:713989630 H cell division cycle 27 gene taxon:9606 20260707 ClinVar RGD 1312639 CDC27 HP:0100522 RGD:8554872 IAGP RGD:714032879 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0100526 RGD:8554872 IAGP RGD:155741652 H cell division cycle 27 gene taxon:9606 20230110 ClinVar RGD 1312639 CDC27 HP:0100526 RGD:8554872 IAGP RGD:155741653 H cell division cycle 27 gene taxon:9606 20230110 ClinVar RGD 1312639 CDC27 HP:0100526 RGD:8554872 IAGP RGD:155741707 H cell division cycle 27 gene taxon:9606 20230110 ClinVar RGD 1312639 CDC27 HP:0100526 RGD:8554872 IAGP RGD:155798009 H cell division cycle 27 gene taxon:9606 20230110 ClinVar RGD 1312639 CDC27 HP:0100526 RGD:8554872 IAGP RGD:713680611 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0100526 RGD:8554872 IAGP RGD:713704220 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312639 CDC27 HP:0100526 RGD:8554872 IAGP RGD:714141792 H cell division cycle 27 gene taxon:9606 20260519 ClinVar RGD 1312641 IRF2 HP:0002861 RGD:8554872 IAGP RGD:714239608 H interferon regulatory factor 2 gene taxon:9606 20260519 ClinVar RGD 1312641 IRF2 HP:0002861 RGD:8554872 IAGP RGD:714239621 H interferon regulatory factor 2 gene taxon:9606 20260519 ClinVar RGD 1312641 IRF2 HP:0004808 RGD:8554872 IAGP RGD:713934242 H interferon regulatory factor 2 gene taxon:9606 20260519 ClinVar RGD 1312641 IRF2 HP:0004808 RGD:8554872 IAGP RGD:713937937 H interferon regulatory factor 2 gene taxon:9606 20260519 ClinVar RGD 1312641 IRF2 HP:0006770 RGD:8554872 IAGP RGD:714239626 H interferon regulatory factor 2 gene taxon:9606 20260519 ClinVar RGD 1312641 IRF2 HP:0011797 RGD:8554872 IAGP RGD:713937949 H interferon regulatory factor 2 gene taxon:9606 20260519 ClinVar RGD 1312641 IRF2 HP:0012126 RGD:8554872 IAGP RGD:713771265 H interferon regulatory factor 2 gene taxon:9606 20260519 ClinVar RGD 1312641 IRF2 HP:0012126 RGD:8554872 IAGP RGD:713929276 H interferon regulatory factor 2 gene taxon:9606 20260519 ClinVar RGD 1312641 IRF2 HP:0100242 RGD:8554872 IAGP RGD:713934226 H interferon regulatory factor 2 gene taxon:9606 20260519 ClinVar RGD 1312641 IRF2 HP:0100522 RGD:8554872 IAGP RGD:713934226 H interferon regulatory factor 2 gene taxon:9606 20260519 ClinVar RGD 1312643 BATF HP:0100526 RGD:8554872 IAGP RGD:713541564 H basic leucine zipper ATF-like transcription factor gene taxon:9606 20260519 ClinVar RGD 1312646 PHF3 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:156435028 H PHD finger protein 3 gene taxon:9606 20230307 ClinVar RGD 1312646 PHF3 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38596776 H PHD finger protein 3 gene taxon:9606 20210323 ClinVar RGD 1312646 PHF3 HP:0001402 RGD:8554872 IAGP RGD:405294985 H PHD finger protein 3 gene taxon:9606 20260519 ClinVar RGD 1312646 PHF3 HP:0002861 RGD:8554872 IAGP RGD:713471390 H PHD finger protein 3 gene taxon:9606 20260519 ClinVar RGD 1312646 PHF3 HP:0004808 RGD:8554872 IAGP RGD:713719184 H PHD finger protein 3 gene taxon:9606 20260519 ClinVar RGD 1312646 PHF3 HP:0004808 RGD:8554872 IAGP RGD:713719240 H PHD finger protein 3 gene taxon:9606 20260519 ClinVar RGD 1312646 PHF3 HP:0006770 RGD:8554872 IAGP RGD:713471409 H PHD finger protein 3 gene taxon:9606 20260519 ClinVar RGD 1312646 PHF3 HP:0012126 RGD:8554872 IAGP RGD:713723086 H PHD finger protein 3 gene taxon:9606 20260519 ClinVar RGD 1312646 PHF3 HP:0030153 RGD:8554872 IAGP RGD:713719240 H PHD finger protein 3 gene taxon:9606 20260519 ClinVar RGD 1312646 PHF3 HP:0100242 RGD:8554872 IAGP RGD:405294985 H PHD finger protein 3 gene taxon:9606 20260519 ClinVar RGD 1312646 PHF3 HP:0100522 RGD:8554872 IAGP RGD:405294985 H PHD finger protein 3 gene taxon:9606 20260519 ClinVar RGD 1312646 PHF3 HP:0100522 RGD:8554872 IAGP RGD:713688435 H PHD finger protein 3 gene taxon:9606 20260519 ClinVar RGD 1312646 PHF3 HP:0100522 RGD:8554872 IAGP RGD:713719240 H PHD finger protein 3 gene taxon:9606 20260519 ClinVar RGD 1312646 PHF3 HP:0100526 RGD:8554872 IAGP RGD:714121067 H PHD finger protein 3 gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:713366202 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:713366231 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:713366843 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:713366202 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:713366231 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:713366843 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0001511 PMID:25741868|RGD:8554872 IAGP RGD:713366202 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0001511 PMID:25741868|RGD:8554872 IAGP RGD:713366231 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0001511 PMID:25741868|RGD:8554872 IAGP RGD:713366843 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0002861 RGD:8554872 IAGP RGD:713410914 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0002861 RGD:8554872 IAGP RGD:713410964 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0002861 RGD:8554872 IAGP RGD:713712355 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:713366202 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:713366231 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:713366843 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0004808 RGD:8554872 IAGP RGD:714184361 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0012126 RGD:8554872 IAGP RGD:714184355 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0012126 RGD:8554872 IAGP RGD:714268460 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0012126 RGD:8554872 IAGP RGD:714268466 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0012126 RGD:8554872 IAGP RGD:714268471 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0030153 RGD:8554872 IAGP RGD:713410824 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0030359 RGD:8554872 IAGP RGD:713410792 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0100242 RGD:8554872 IAGP RGD:713712355 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0100526 RGD:8554872 IAGP RGD:713410670 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0100526 RGD:8554872 IAGP RGD:713410694 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312648 PFAS HP:0100526 RGD:8554872 IAGP RGD:713712355 H phosphoribosylformylglycinamidine synthase gene taxon:9606 20260519 ClinVar RGD 1312650 FAM135A HP:0001402 RGD:8554872 IAGP RGD:714081663 H family with sequence similarity 135 member A gene taxon:9606 20260519 ClinVar RGD 1312650 FAM135A HP:0001402 RGD:8554872 IAGP RGD:714081678 H family with sequence similarity 135 member A gene taxon:9606 20260519 ClinVar RGD 1312650 FAM135A HP:0002861 RGD:8554872 IAGP RGD:713472712 H family with sequence similarity 135 member A gene taxon:9606 20260519 ClinVar RGD 1312650 FAM135A HP:0002861 RGD:8554872 IAGP RGD:713472828 H family with sequence similarity 135 member A gene taxon:9606 20260519 ClinVar RGD 1312650 FAM135A HP:0004808 RGD:8554872 IAGP RGD:713723138 H family with sequence similarity 135 member A gene taxon:9606 20260707 ClinVar RGD 1312650 FAM135A HP:0005152 RGD:8554872 IAGP RGD:11542099 H family with sequence similarity 135 member A gene taxon:9606 20210323 ClinVar RGD 1312650 FAM135A HP:0006725 RGD:8554872 IAGP RGD:713472784 H family with sequence similarity 135 member A gene taxon:9606 20260519 ClinVar RGD 1312650 FAM135A HP:0006770 RGD:8554872 IAGP RGD:713472585 H family with sequence similarity 135 member A gene taxon:9606 20260519 ClinVar RGD 1312650 FAM135A HP:0006770 RGD:8554872 IAGP RGD:713472607 H family with sequence similarity 135 member A gene taxon:9606 20260519 ClinVar RGD 1312650 FAM135A HP:0006770 RGD:8554872 IAGP RGD:713472654 H family with sequence similarity 135 member A gene taxon:9606 20260519 ClinVar RGD 1312650 FAM135A HP:0011797 RGD:8554872 IAGP RGD:714158940 H family with sequence similarity 135 member A gene taxon:9606 20260519 ClinVar RGD 1312650 FAM135A HP:0012126 RGD:8554872 IAGP RGD:713567720 H family with sequence similarity 135 member A gene taxon:9606 20260519 ClinVar RGD 1312650 FAM135A HP:0012126 RGD:8554872 IAGP RGD:713567753 H family with sequence similarity 135 member A gene taxon:9606 20260519 ClinVar RGD 1312650 FAM135A HP:0012126 RGD:8554872 IAGP RGD:713567783 H family with sequence similarity 135 member A gene taxon:9606 20260519 ClinVar RGD 1312650 FAM135A HP:0030153 RGD:8554872 IAGP RGD:714081663 H family with sequence similarity 135 member A gene taxon:9606 20260519 ClinVar RGD 1312650 FAM135A HP:0100242 RGD:8554872 IAGP RGD:713472514 H family with sequence similarity 135 member A gene taxon:9606 20260519 ClinVar RGD 1312650 FAM135A HP:0100526 RGD:8554872 IAGP RGD:713472629 H family with sequence similarity 135 member A gene taxon:9606 20260519 ClinVar RGD 1312652 HMX1 HP:0000007 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20260209 HPO RGD 1312652 HMX1 HP:0000369 MIM:612109|PMID:25574057|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000387 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000402 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000480 MIM:612109|PMID:25574057|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000482 MIM:612109|PMID:18423520|PMID:25574057|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000510 MIM:612109|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20260209 HPO RGD 1312652 HMX1 HP:0000518 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000519 MIM:612109|PMID:25574057|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000533 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000541 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000548 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26922095 H H6 family homeobox 1 gene taxon:9606 20250107 ClinVar RGD 1312652 HMX1 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28892873 H H6 family homeobox 1 gene taxon:9606 20250107 ClinVar RGD 1312652 HMX1 HP:0000567 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000568 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000579 MIM:612109|PMID:25574057|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000612 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000627 MIM:612109|PMID:25574057|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000639 MIM:612109|PMID:25574057|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000647 MIM:612109|PMID:18423520|PMID:25574057|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000666 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0000667 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0001104 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0003298 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0003778 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0006934 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0007700 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0007906 MIM:612109|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20230821 HPO RGD 1312652 HMX1 HP:0011484 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0011523 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0012376 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0020049 MIM:612109|PMID:25574057|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0025514 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312652 HMX1 HP:0032286 MIM:612109|PMID:18423520|RGD:8699517 IAGP H H6 family homeobox 1 gene taxon:9606 20250912 HPO RGD 1312654 RUBCNL HP:0011797 RGD:8554872 IAGP RGD:714161300 H rubicon like autophagy enhancer gene taxon:9606 20260519 ClinVar RGD 1312654 RUBCNL HP:0012125 RGD:8554872 IAGP RGD:9687089 H rubicon like autophagy enhancer gene taxon:9606 20250708 ClinVar RGD 1312654 RUBCNL HP:0100242 RGD:8554872 IAGP RGD:713789601 H rubicon like autophagy enhancer gene taxon:9606 20260519 ClinVar RGD 1312654 RUBCNL HP:0100242 RGD:8554872 IAGP RGD:713875510 H rubicon like autophagy enhancer gene taxon:9606 20260519 ClinVar RGD 1312654 RUBCNL HP:0100526 RGD:8554872 IAGP RGD:713875584 H rubicon like autophagy enhancer gene taxon:9606 20260519 ClinVar RGD 1312667 EXOC1 HP:0001402 RGD:8554872 IAGP RGD:714072843 H exocyst complex component 1 gene taxon:9606 20260519 ClinVar RGD 1312667 EXOC1 HP:0004808 RGD:8554872 IAGP RGD:713930917 H exocyst complex component 1 gene taxon:9606 20260519 ClinVar RGD 1312667 EXOC1 HP:0006770 RGD:8554872 IAGP RGD:714190106 H exocyst complex component 1 gene taxon:9606 20260519 ClinVar RGD 1312667 EXOC1 HP:0006770 RGD:8554872 IAGP RGD:714190113 H exocyst complex component 1 gene taxon:9606 20260519 ClinVar RGD 1312667 EXOC1 HP:0011797 RGD:8554872 IAGP RGD:713932182 H exocyst complex component 1 gene taxon:9606 20260519 ClinVar RGD 1312667 EXOC1 HP:0012126 RGD:8554872 IAGP RGD:713775007 H exocyst complex component 1 gene taxon:9606 20260519 ClinVar RGD 1312667 EXOC1 HP:0030153 RGD:8554872 IAGP RGD:713775007 H exocyst complex component 1 gene taxon:9606 20260519 ClinVar RGD 1312667 EXOC1 HP:0100522 RGD:8554872 IAGP RGD:713775007 H exocyst complex component 1 gene taxon:9606 20260519 ClinVar RGD 1312667 EXOC1 HP:0100526 RGD:8554872 IAGP RGD:714190117 H exocyst complex component 1 gene taxon:9606 20260519 ClinVar RGD 1312671 HIPK1 HP:0001402 RGD:8554872 IAGP RGD:713357876 H homeodomain interacting protein kinase 1 gene taxon:9606 20260519 ClinVar RGD 1312671 HIPK1 HP:0004808 RGD:8554872 IAGP RGD:713677803 H homeodomain interacting protein kinase 1 gene taxon:9606 20260519 ClinVar RGD 1312671 HIPK1 HP:0004808 RGD:8554872 IAGP RGD:713678034 H homeodomain interacting protein kinase 1 gene taxon:9606 20260519 ClinVar RGD 1312671 HIPK1 HP:0011797 RGD:8554872 IAGP RGD:713667308 H homeodomain interacting protein kinase 1 gene taxon:9606 20260519 ClinVar RGD 1312671 HIPK1 HP:0100242 RGD:8554872 IAGP RGD:714173748 H homeodomain interacting protein kinase 1 gene taxon:9606 20260519 ClinVar RGD 1312671 HIPK1 HP:0100242 RGD:8554872 IAGP RGD:714175172 H homeodomain interacting protein kinase 1 gene taxon:9606 20260519 ClinVar RGD 1312671 HIPK1 HP:0100522 RGD:8554872 IAGP RGD:714175449 H homeodomain interacting protein kinase 1 gene taxon:9606 20260519 ClinVar RGD 1312675 LRP12 HP:0000006 MIM:164310|MIM:620452|PMID:31332380|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0000183 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0000218 MIM:164310|ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250416 HPO RGD 1312675 LRP12 HP:0000301 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0000407 MIM:164310|PMID:21242490|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0000408 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0000508 MIM:164310|PMID:21242490|PMID:31332380|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0000544 MIM:164310|PMID:31332380|PMID:32493488|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0000590 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0000597 MIM:164310|ORPHA:98897|PMID:21242490|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0001251 MIM:164310|PMID:31332380|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0001260 MIM:164310|MIM:620452|PMID:31332380|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0001284 MIM:164310|ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250416 HPO RGD 1312675 LRP12 HP:0001288 MIM:164310|MIM:620452|ORPHA:98897|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0001315 MIM:620452|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0001324 MIM:164310|MIM:620452|PMID:32493488|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0001337 MIM:164310|PMID:31332380|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0001402 RGD:8554872 IAGP RGD:713765882 H LDL receptor related protein 12 gene taxon:9606 20260519 ClinVar RGD 1312675 LRP12 HP:0001402 RGD:8554872 IAGP RGD:713765897 H LDL receptor related protein 12 gene taxon:9606 20260519 ClinVar RGD 1312675 LRP12 HP:0001402 RGD:8554872 IAGP RGD:713765918 H LDL receptor related protein 12 gene taxon:9606 20260519 ClinVar RGD 1312675 LRP12 HP:0001488 MIM:164310|PMID:32493488|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0001604 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0001611 MIM:164310|PMID:31332380|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0001618 MIM:164310|PMID:32493488|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0001639 MIM:164310|PMID:32493488|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0001644 MIM:164310|PMID:31332380|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0001824 MIM:164310|ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250416 HPO RGD 1312675 LRP12 HP:0002015 MIM:164310|MIM:620452|PMID:21242490|PMID:31332380|PMID:32493488|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0002058 MIM:164310|ORPHA:98897|PMID:32493488|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0002091 MIM:164310|ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250416 HPO RGD 1312675 LRP12 HP:0002098 MIM:164310|PMID:32493488|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0002100 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0002380 MIM:620452|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0002460 MIM:164310|PMID:21242490|PMID:31332380|PMID:32493488|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0002500 MIM:164310|PMID:31332380|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0002505 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0002705 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0002747 MIM:164310|ORPHA:98897|PMID:31332380|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0002835 MIM:164310|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0002861 RGD:8554872 IAGP RGD:714082498 H LDL receptor related protein 12 gene taxon:9606 20260519 ClinVar RGD 1312675 LRP12 HP:0002861 RGD:8554872 IAGP RGD:714082505 H LDL receptor related protein 12 gene taxon:9606 20260519 ClinVar RGD 1312675 LRP12 HP:0002878 MIM:620452|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0003002 PMID:25741868|RGD:8554872 IAGP RGD:126908747 H LDL receptor related protein 12 gene taxon:9606 20260519 ClinVar RGD 1312675 LRP12 HP:0003202 MIM:620452|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0003236 MIM:164310|PMID:32493488|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0003326 MIM:620452|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0003394 MIM:164310|PMID:32493488|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0003458 MIM:164310|PMID:21242490|PMID:31332380|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0003484 MIM:620452|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0003487 MIM:620452|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0003551 MIM:620452|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0003557 MIM:164310|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0003596 MIM:164310|MIM:620452|PMID:31332380|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0003621 MIM:164310|PMID:31332380|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0003677 MIM:164310|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0003693 MIM:164310|PMID:32493488|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0003698 MIM:620452|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0003701 MIM:164310|PMID:21242490|PMID:31332380|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0003736 MIM:164310|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0003805 MIM:164310|MIM:620452|PMID:21242490|PMID:32493488|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0004757 MIM:164310|PMID:31332380|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0007149 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0007340 MIM:620452|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0007838 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0008376 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0008756 MIM:164310|ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250416 HPO RGD 1312675 LRP12 HP:0008944 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0008959 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0008963 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0008997 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0009027 MIM:164310|ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250416 HPO RGD 1312675 LRP12 HP:0009053 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0009063 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0009073 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0010550 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0010628 MIM:164310|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0010875 MIM:620452|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0011462 MIM:164310|PMID:31332380|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0012416 MIM:164310|PMID:21242490|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0012444 MIM:164310|PMID:31332380|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0025710 MIM:620452|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0030153 RGD:8554872 IAGP RGD:713604901 H LDL receptor related protein 12 gene taxon:9606 20260519 ClinVar RGD 1312675 LRP12 HP:0030192 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0030319 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0031162 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0032341 MIM:164310|PMID:21242490|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0033685 MIM:620452|PMID:37339631|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0100284 MIM:164310|PMID:21242490|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20250912 HPO RGD 1312675 LRP12 HP:0100522 RGD:8554872 IAGP RGD:714082478 H LDL receptor related protein 12 gene taxon:9606 20260519 ClinVar RGD 1312675 LRP12 HP:0200136 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:0430015 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:3000005 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312675 LRP12 HP:3000010 ORPHA:98897|RGD:8699517 IAGP H LDL receptor related protein 12 gene taxon:9606 20230821 HPO RGD 1312679 DDX17 HP:0001249 PMID:25741868|PMID:39405200|RGD:8554872 IAGP RGD:713511292 H DEAD-box helicase 17 gene taxon:9606 20260519 ClinVar RGD 1312679 DDX17 HP:0001250 PMID:25741868|PMID:39405200|RGD:8554872 IAGP RGD:713511292 H DEAD-box helicase 17 gene taxon:9606 20260519 ClinVar RGD 1312679 DDX17 HP:0004808 RGD:8554872 IAGP RGD:714193162 H DEAD-box helicase 17 gene taxon:9606 20260519 ClinVar RGD 1312679 DDX17 HP:0030153 RGD:8554872 IAGP RGD:714193162 H DEAD-box helicase 17 gene taxon:9606 20260519 ClinVar RGD 1312679 DDX17 HP:0100242 RGD:8554872 IAGP RGD:713603272 H DEAD-box helicase 17 gene taxon:9606 20260519 ClinVar RGD 1312679 DDX17 HP:0100242 RGD:8554872 IAGP RGD:714193162 H DEAD-box helicase 17 gene taxon:9606 20260519 ClinVar RGD 1312679 DDX17 HP:0100522 RGD:8554872 IAGP RGD:713603272 H DEAD-box helicase 17 gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0000006 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20251023 HPO RGD 1312683 EZH2 HP:0000023 MIM:277590|ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250416 HPO RGD 1312683 EZH2 HP:0000028 MIM:277590|ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250416 HPO RGD 1312683 EZH2 HP:0000034 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0000098 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0000098 PMID:18414213|PMID:25741868|PMID:28492532|PMID:29244146|RGD:8554872 IAGP RGD:9682486 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0000256 MIM:277590|ORPHA:3447|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0000256 RGD:8554872 IAGP RGD:13532849 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0000276 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150557013 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0000278 MIM:277590|ORPHA:3447|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0000286 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0000303 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20251023 HPO RGD 1312683 EZH2 HP:0000311 MIM:277590|ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0000316 MIM:277590|ORPHA:3447|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0000337 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0000343 MIM:277590|ORPHA:3447|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0000347 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0000358 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20240815 HPO RGD 1312683 EZH2 HP:0000400 MIM:277590|ORPHA:3447|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0000400 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150557013 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0000421 RGD:8554872 IAGP RGD:127261655 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0000486 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0000494 MIM:277590|ORPHA:3447|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0000496 PMID:18414213|PMID:25741868|PMID:28492532|PMID:29244146|RGD:8554872 IAGP RGD:9682486 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0000708 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0000729 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150557013 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0000750 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0000773 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0000821 RGD:8554872 IAGP RGD:127261655 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0000944 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0000954 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0000973 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0000995 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0001176 MIM:277590|ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250416 HPO RGD 1312683 EZH2 HP:0001212 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0001231 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0001249 MIM:277590|ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0001249 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13479421 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150557013 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0001249 RGD:8554872 IAGP RGD:127261655 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0001250 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0001250 RGD:8554872 IAGP RGD:127261655 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0001251 PMID:25741868|PMID:4366187|RGD:8554872 IAGP RGD:714151397 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0001252 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0001256 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0001257 MIM:277590|ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250416 HPO RGD 1312683 EZH2 HP:0001260 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0001263 MIM:277590|ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0001263 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150557013 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0001276 MIM:277590|ORPHA:3447|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0001290 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0001321 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0001328 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150557013 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0001331 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0001350 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0001377 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0001382 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0001382 PMID:18414213|PMID:25741868|PMID:28492532|PMID:29244146|RGD:8554872 IAGP RGD:9682486 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0001387 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0001402 RGD:8554872 IAGP RGD:713762803 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0001402 RGD:8554872 IAGP RGD:714082724 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0001537 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0001540 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0001548 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0001548 PMID:18414213|PMID:25741868|PMID:28492532|PMID:29244146|RGD:8554872 IAGP RGD:9682486 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0001558 PMID:18414213|PMID:25741868|PMID:28492532|PMID:29244146|RGD:8554872 IAGP RGD:9682486 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0001560 PMID:18414213|PMID:25741868|PMID:28492532|PMID:29244146|RGD:8554872 IAGP RGD:9682486 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0001582 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0001609 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0001615 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0001643 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0001761 MIM:277590|ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250416 HPO RGD 1312683 EZH2 HP:0001762 MIM:277590|ORPHA:3447|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0001762 RGD:8554872 IAGP RGD:127261655 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0001769 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0001800 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0001814 MIM:277590|ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250416 HPO RGD 1312683 EZH2 HP:0001816 MIM:277590|ORPHA:3447|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0001840 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0001845 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0001848 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0001852 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0001863 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0001999 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150557013 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0002002 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0002069 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0002069 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13479421 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0002119 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0002121 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0002172 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0002188 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0002194 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13479421 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0002213 MIM:277590|ORPHA:3447|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0002321 PMID:18414213|PMID:25741868|PMID:28492532|PMID:29244146|RGD:8554872 IAGP RGD:9682486 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0002342 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13479421 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0002591 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0002650 MIM:277590|ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20251023 HPO RGD 1312683 EZH2 HP:0002652 PMID:18414213|PMID:25741868|PMID:28492532|PMID:29244146|RGD:8554872 IAGP RGD:9682486 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0002664 PMID:21078963|PMID:21190999|PMID:22323599|PMID:25253781|PMID:35101336|RGD:8554872 IAGP RGD:12839679 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0002665 RGD:8554872 IAGP RGD:12841765 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250107 ClinVar RGD 1312683 EZH2 HP:0002665 RGD:8554872 IAGP RGD:12848703 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250107 ClinVar RGD 1312683 EZH2 HP:0002665 RGD:8554872 IAGP RGD:8632451 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250107 ClinVar RGD 1312683 EZH2 HP:0002665 RGD:8554872 IAGP RGD:8632452 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250107 ClinVar RGD 1312683 EZH2 HP:0002673 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0002808 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0002834 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0002866 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0003066 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0003186 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0003911 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0004322 PMID:25741868|PMID:4366187|RGD:8554872 IAGP RGD:714151397 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0004689 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0004808 PMID:28492532|RGD:8554872 IAGP RGD:405059189 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0004808 RGD:8554872 IAGP RGD:713981524 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0005280 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0005469 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0005616 MIM:277590|ORPHA:3447|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0006101 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0006387 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0006770 RGD:8554872 IAGP RGD:713479308 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0006770 RGD:8554872 IAGP RGD:713479463 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0006770 RGD:8554872 IAGP RGD:713479561 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0006770 RGD:8554872 IAGP RGD:713479581 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0006956 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0006970 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150557013 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0007010 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0007018 RGD:8554872 IAGP RGD:127261655 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0008070 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0008736 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0008872 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0009466 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0009473 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0010300 MIM:277590|ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250416 HPO RGD 1312683 EZH2 HP:0010460 PMID:18414213|PMID:25741868|PMID:28492532|PMID:29244146|RGD:8554872 IAGP RGD:9682486 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0010751 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0010780 PMID:18414213|PMID:25741868|PMID:28492532|PMID:29244146|RGD:8554872 IAGP RGD:9682486 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0010862 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13479421 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0010863 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13479421 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0011304 MIM:277590|ORPHA:3447|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0011343 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13479421 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0011443 PMID:18414213|PMID:25741868|PMID:28492532|PMID:29244146|RGD:8554872 IAGP RGD:9682486 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0011461 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260209 HPO RGD 1312683 EZH2 HP:0011797 RGD:8554872 IAGP RGD:713984937 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0011804 PMID:18414213|PMID:25741868|PMID:28492532|PMID:29244146|RGD:8554872 IAGP RGD:9682486 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0012056 RGD:8554872 IAGP RGD:12834521 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250107 ClinVar RGD 1312683 EZH2 HP:0012056 RGD:8554872 IAGP RGD:12839945 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250107 ClinVar RGD 1312683 EZH2 HP:0012056 RGD:8554872 IAGP RGD:12841765 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250107 ClinVar RGD 1312683 EZH2 HP:0012056 RGD:8554872 IAGP RGD:8632451 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250107 ClinVar RGD 1312683 EZH2 HP:0012056 RGD:8554872 IAGP RGD:8632452 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250107 ClinVar RGD 1312683 EZH2 HP:0012126 RGD:8554872 IAGP RGD:713577496 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0012385 MIM:277590|PMID:22177091|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250912 HPO RGD 1312683 EZH2 HP:0012471 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150557013 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0012539 RGD:8554872 IAGP RGD:12834521 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250107 ClinVar RGD 1312683 EZH2 HP:0012539 RGD:8554872 IAGP RGD:12839945 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250107 ClinVar RGD 1312683 EZH2 HP:0012539 RGD:8554872 IAGP RGD:12841765 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250107 ClinVar RGD 1312683 EZH2 HP:0012539 RGD:8554872 IAGP RGD:8632451 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250107 ClinVar RGD 1312683 EZH2 HP:0012539 RGD:8554872 IAGP RGD:8632452 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250107 ClinVar RGD 1312683 EZH2 HP:0012760 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13479421 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0030069 PMID:27993330|RGD:8554872 IAGP RGD:713816949 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0030084 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0030359 RGD:8554872 IAGP RGD:713479518 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0030680 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0034057 PMID:25741868|RGD:8554872 IAGP RGD:598121887 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20250408 ClinVar RGD 1312683 EZH2 HP:0100022 PMID:18414213|PMID:25741868|PMID:28492532|PMID:29244146|RGD:8554872 IAGP RGD:9682486 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0100242 RGD:8554872 IAGP RGD:713479245 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0100242 RGD:8554872 IAGP RGD:713479265 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0100242 RGD:8554872 IAGP RGD:713479615 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0100242 RGD:8554872 IAGP RGD:713981524 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0100490 ORPHA:3447|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0100526 PMID:28492532|RGD:8554872 IAGP RGD:38500193 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0100526 RGD:8554872 IAGP RGD:713479482 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0100543 PMID:18414213|PMID:25741868|PMID:28492532|PMID:29244146|RGD:8554872 IAGP RGD:9682486 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0100559 RGD:8554872 IAGP RGD:127261655 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 HP:0200000 MIM:277590|RGD:8699517 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20230821 HPO RGD 1312683 EZH2 HP:0200136 PMID:18414213|PMID:25741868|PMID:28492532|PMID:29244146|RGD:8554872 IAGP RGD:9682486 H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312683 EZH2 severity HP:0005513 RGD:10450870|PMID:21921040 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20180813 RGD RGD 1312683 EZH2 severity HP:0012143 RGD:10450870|PMID:21921040 IAGP H enhancer of zeste 2 polycomb repressive complex 2 subunit gene taxon:9606 20180813 RGD RGD 1312685 CARD10 HP:0000007 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0002099 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0002110 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0002783 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0002861 RGD:8554872 IAGP RGD:405275106 H caspase recruitment domain family member 10 gene taxon:9606 20260519 ClinVar RGD 1312685 CARD10 HP:0002861 RGD:8554872 IAGP RGD:405289357 H caspase recruitment domain family member 10 gene taxon:9606 20260519 ClinVar RGD 1312685 CARD10 HP:0002861 RGD:8554872 IAGP RGD:713749371 H caspase recruitment domain family member 10 gene taxon:9606 20260519 ClinVar RGD 1312685 CARD10 HP:0002861 RGD:8554872 IAGP RGD:713749395 H caspase recruitment domain family member 10 gene taxon:9606 20260519 ClinVar RGD 1312685 CARD10 HP:0002861 RGD:8554872 IAGP RGD:713749410 H caspase recruitment domain family member 10 gene taxon:9606 20260519 ClinVar RGD 1312685 CARD10 HP:0002923 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0003212 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0003237 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0003261 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0003493 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0003565 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0003621 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0004840 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0011227 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0012108 PMID:27896285|RGD:8554872 IAGP RGD:12791333 H caspase recruitment domain family member 10 gene taxon:9606 20210323 ClinVar RGD 1312685 CARD10 HP:0012108 PMID:27896285|RGD:8554872 IAGP RGD:12791334 H caspase recruitment domain family member 10 gene taxon:9606 20210323 ClinVar RGD 1312685 CARD10 HP:0012108 PMID:27896285|RGD:8554872 IAGP RGD:12791335 H caspase recruitment domain family member 10 gene taxon:9606 20210323 ClinVar RGD 1312685 CARD10 HP:0012108 PMID:27896285|RGD:8554872 IAGP RGD:12791336 H caspase recruitment domain family member 10 gene taxon:9606 20210323 ClinVar RGD 1312685 CARD10 HP:0012108 PMID:27896285|RGD:8554872 IAGP RGD:12791833 H caspase recruitment domain family member 10 gene taxon:9606 20210323 ClinVar RGD 1312685 CARD10 HP:0012126 RGD:8554872 IAGP RGD:405275106 H caspase recruitment domain family member 10 gene taxon:9606 20260519 ClinVar RGD 1312685 CARD10 HP:0030153 RGD:8554872 IAGP RGD:713373119 H caspase recruitment domain family member 10 gene taxon:9606 20260519 ClinVar RGD 1312685 CARD10 HP:0031891 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0031944 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0032069 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0032446 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0034163 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0034165 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0034168 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0034171 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0034174 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0034177 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0100242 RGD:8554872 IAGP RGD:405275106 H caspase recruitment domain family member 10 gene taxon:9606 20260519 ClinVar RGD 1312685 CARD10 HP:0100242 RGD:8554872 IAGP RGD:405289357 H caspase recruitment domain family member 10 gene taxon:9606 20260519 ClinVar RGD 1312685 CARD10 HP:0100280 MIM:619632|PMID:32238915|RGD:8699517 IAGP H caspase recruitment domain family member 10 gene taxon:9606 20250912 HPO RGD 1312685 CARD10 HP:0100522 RGD:8554872 IAGP RGD:405275106 H caspase recruitment domain family member 10 gene taxon:9606 20260519 ClinVar RGD 1312685 CARD10 HP:0100526 RGD:8554872 IAGP RGD:405289357 H caspase recruitment domain family member 10 gene taxon:9606 20260519 ClinVar RGD 1312687 IL21R HP:0000007 MIM:615207|PMID:23440042|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0000403 MIM:615207|PMID:25398835|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0001238 PMID:22235133|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11060048 H interleukin 21 receptor gene taxon:9606 20260519 ClinVar RGD 1312687 IL21R HP:0001394 MIM:615207|PMID:23440042|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0001399 MIM:615207|PMID:23440042|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0001508 MIM:615207|PMID:23440042|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0002028 MIM:615207|PMID:23440042|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0002110 MIM:615207|PMID:23440042|PMID:25398835|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0002205 MIM:615207|PMID:23440042|PMID:25398835|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0002719 MIM:615207|PMID:23440042|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0002721 MIM:615207|PMID:23440042|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0002861 RGD:8554872 IAGP RGD:714046901 H interleukin 21 receptor gene taxon:9606 20260519 ClinVar RGD 1312687 IL21R HP:0002861 RGD:8554872 IAGP RGD:714046913 H interleukin 21 receptor gene taxon:9606 20260519 ClinVar RGD 1312687 IL21R HP:0002861 RGD:8554872 IAGP RGD:714046962 H interleukin 21 receptor gene taxon:9606 20260519 ClinVar RGD 1312687 IL21R HP:0003139 MIM:615207|PMID:25398835|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0003212 RGD:8554872 IAGP RGD:8558439 H interleukin 21 receptor gene taxon:9606 20220308 ClinVar RGD 1312687 IL21R HP:0004798 MIM:615207|PMID:23440042|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0006532 MIM:615207|PMID:23440042|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0011108 MIM:615207|PMID:23440042|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0011463 MIM:615207|PMID:23440042|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0020102 MIM:615207|PMID:25398835|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0030151 MIM:615207|PMID:23440042|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312687 IL21R HP:0200124 MIM:615207|PMID:23440042|RGD:8699517 IAGP H interleukin 21 receptor gene taxon:9606 20250912 HPO RGD 1312693 POLD2 HP:0001402 RGD:8554872 IAGP RGD:714083570 H DNA polymerase delta 2, accessory subunit gene taxon:9606 20260519 ClinVar RGD 1312693 POLD2 HP:0006770 RGD:8554872 IAGP RGD:713638601 H DNA polymerase delta 2, accessory subunit gene taxon:9606 20260519 ClinVar RGD 1312693 POLD2 HP:0100242 RGD:8554872 IAGP RGD:713663141 H DNA polymerase delta 2, accessory subunit gene taxon:9606 20260519 ClinVar RGD 1312695 ARMC3 HP:0100242 RGD:8554872 IAGP RGD:713385713 H armadillo repeat containing 3 gene taxon:9606 20260519 ClinVar RGD 1312695 ARMC3 HP:0100522 RGD:8554872 IAGP RGD:713385530 H armadillo repeat containing 3 gene taxon:9606 20260519 ClinVar RGD 1312695 ARMC3 HP:0100526 RGD:8554872 IAGP RGD:713385550 H armadillo repeat containing 3 gene taxon:9606 20260519 ClinVar RGD 1312695 ARMC3 HP:0100526 RGD:8554872 IAGP RGD:713385579 H armadillo repeat containing 3 gene taxon:9606 20260519 ClinVar RGD 1312698 ATOH7 HP:0000007 MIM:221900|PMID:21441919|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1312698 ATOH7 HP:0000482 MIM:221900|ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20250416 HPO RGD 1312698 ATOH7 HP:0000486 ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0000501 MIM:221900|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0000518 MIM:221900|ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20250416 HPO RGD 1312698 ATOH7 HP:0000519 ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0000554 MIM:221900|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0000555 MIM:221900|ORPHA:91495|PMID:21441919|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1312698 ATOH7 HP:0000557 MIM:221900|ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20250416 HPO RGD 1312698 ATOH7 HP:0000565 MIM:221900|PMID:21441919|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1312698 ATOH7 HP:0000568 MIM:221900|ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20250416 HPO RGD 1312698 ATOH7 HP:0000594 MIM:221900|ORPHA:91495|PMID:21441919|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1312698 ATOH7 HP:0000612 MIM:221900|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0000618 ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0000646 ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0000667 MIM:221900|ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20250416 HPO RGD 1312698 ATOH7 HP:0001104 ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0003577 MIM:221900|PMID:21441919|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1312698 ATOH7 HP:0007663 ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0007750 PMID:28492532|PMID:31696227|RGD:8554872 IAGP RGD:25318529 H atonal bHLH transcription factor 7 gene taxon:9606 20260707 ClinVar RGD 1312698 ATOH7 HP:0007750 PMID:31696227|RGD:8554872 IAGP RGD:25318527 H atonal bHLH transcription factor 7 gene taxon:9606 20210323 ClinVar RGD 1312698 ATOH7 HP:0007899 MIM:221900|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0007917 ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0007957 MIM:221900|ORPHA:91495|PMID:21441919|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1312698 ATOH7 HP:0007968 MIM:221900|ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20250416 HPO RGD 1312698 ATOH7 HP:0008052 MIM:221900|ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20250416 HPO RGD 1312698 ATOH7 HP:0009917 MIM:221900|ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20250416 HPO RGD 1312698 ATOH7 HP:0009926 ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0010766 ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0011484 MIM:221900|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0011885 ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0011886 MIM:221900|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0012043 MIM:221900|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0012109 ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0030743 ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0030744 ORPHA:91495|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1312698 ATOH7 HP:0032287 MIM:221900|PMID:21441919|RGD:8699517 IAGP H atonal bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1312701 RDH13 HP:0002665 RGD:8554872 IAGP RGD:713879102 H retinol dehydrogenase 13 gene taxon:9606 20260519 ClinVar RGD 1312701 RDH13 HP:0012126 RGD:8554872 IAGP RGD:713768680 H retinol dehydrogenase 13 gene taxon:9606 20260519 ClinVar RGD 1312701 RDH13 HP:0100242 RGD:8554872 IAGP RGD:713879090 H retinol dehydrogenase 13 gene taxon:9606 20260519 ClinVar RGD 1312701 RDH13 HP:0100522 RGD:8554872 IAGP RGD:713827666 H retinol dehydrogenase 13 gene taxon:9606 20260519 ClinVar RGD 1312701 RDH13 HP:0100526 RGD:8554872 IAGP RGD:713879074 H retinol dehydrogenase 13 gene taxon:9606 20260519 ClinVar RGD 1312703 GDAP1L1 HP:0002665 RGD:8554872 IAGP RGD:713968430 H ganglioside induced differentiation associated protein 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312703 GDAP1L1 HP:0004808 RGD:8554872 IAGP RGD:713968430 H ganglioside induced differentiation associated protein 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312703 GDAP1L1 HP:0100526 RGD:8554872 IAGP RGD:713968430 H ganglioside induced differentiation associated protein 1 like 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0000007 MIM:615438|PMID:22607940|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312707 LARS1 HP:0000252 MIM:615438|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20240905 HPO RGD 1312707 LARS1 HP:0000252 PMID:25741868|PMID:32699352|RGD:8554872 IAGP RGD:10411567 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0000252 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0000293 MIM:615438|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20240905 HPO RGD 1312707 LARS1 HP:0000407 MIM:615438|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20240905 HPO RGD 1312707 LARS1 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:408368268 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0000718 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0000750 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001250 MIM:615438|PMID:22607940|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312707 LARS1 HP:0001250 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001252 MIM:615438|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20240905 HPO RGD 1312707 LARS1 HP:0001257 PMID:25741868|PMID:32699352|RGD:8554872 IAGP RGD:10411567 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001263 MIM:615438|PMID:22607940|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312707 LARS1 HP:0001263 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001270 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001290 MIM:615438|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20240905 HPO RGD 1312707 LARS1 HP:0001396 PMID:25741868|RGD:8554872 IAGP RGD:713993886 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001397 MIM:615438|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20240905 HPO RGD 1312707 LARS1 HP:0001399 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001402 RGD:8554872 IAGP RGD:714074914 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001410 PMID:25741868|RGD:8554872 IAGP RGD:713993886 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001410 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001508 MIM:615438|PMID:22607940|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312707 LARS1 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:713993886 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001631 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001655 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001829 PMID:25741868|PMID:32699352|RGD:8554872 IAGP RGD:10411567 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001903 MIM:615438|PMID:22607940|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312707 LARS1 HP:0001943 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001972 MIM:615438|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20240905 HPO RGD 1312707 LARS1 HP:0001988 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0001998 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0002007 MIM:615438|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20240905 HPO RGD 1312707 LARS1 HP:0002167 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0002194 MIM:615438|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20240905 HPO RGD 1312707 LARS1 HP:0002240 MIM:615438|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20240905 HPO RGD 1312707 LARS1 HP:0002463 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0002665 PMID:28492532|RGD:8554872 IAGP RGD:8691826 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0002910 MIM:615438|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20240905 HPO RGD 1312707 LARS1 HP:0003128 MIM:615438|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20240905 HPO RGD 1312707 LARS1 HP:0003256 MIM:615438|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20240905 HPO RGD 1312707 LARS1 HP:0004808 PMID:28492532|RGD:8554872 IAGP RGD:8691826 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0004808 RGD:8554872 IAGP RGD:150339735 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0004808 RGD:8554872 IAGP RGD:713460985 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0004808 RGD:8554872 IAGP RGD:713461030 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0004914 PMID:25741868|RGD:8554872 IAGP RGD:713993886 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0006554 MIM:615438|PMID:22607940|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1312707 LARS1 HP:0006770 PMID:28492532|RGD:8554872 IAGP RGD:8691826 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0006770 RGD:8554872 IAGP RGD:713886800 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0006770 RGD:8554872 IAGP RGD:713887023 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0006770 RGD:8554872 IAGP RGD:713887060 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0007364 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0007716 PMID:28492532|RGD:8554872 IAGP RGD:8691826 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0010511 MIM:615438|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20240905 HPO RGD 1312707 LARS1 HP:0011015 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0011097 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0011344 PMID:25741868|PMID:32699352|RGD:8554872 IAGP RGD:10411567 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0011797 RGD:8554872 IAGP RGD:713453324 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0012126 PMID:16199547|PMID:25741868|PMID:28492532|PMID:32699352|PMID:33300650|RGD:8554872 IAGP RGD:151730065 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0012638 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0012758 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0020219 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0025032 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0025155 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0030153 RGD:8554872 IAGP RGD:150339735 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0040195 RGD:8554872 IAGP RGD:402479556 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0100242 RGD:8554872 IAGP RGD:150468967 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0100242 RGD:8554872 IAGP RGD:713886952 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0100242 RGD:8554872 IAGP RGD:713887155 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0100522 PMID:28492532|RGD:8554872 IAGP RGD:8691826 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0100522 RGD:8554872 IAGP RGD:713886846 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0100526 RGD:8554872 IAGP RGD:150339735 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0100526 RGD:8554872 IAGP RGD:713886879 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0100526 RGD:8554872 IAGP RGD:713886967 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0100526 RGD:8554872 IAGP RGD:713887052 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0100526 RGD:8554872 IAGP RGD:713887127 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0100615 PMID:28492532|RGD:8554872 IAGP RGD:8691826 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0100615 RGD:8554872 IAGP RGD:150339735 H leucyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1312707 LARS1 HP:0100807 MIM:615438|RGD:8699517 IAGP H leucyl-tRNA synthetase 1 gene taxon:9606 20240905 HPO RGD 1312709 AIFM2 HP:0001402 RGD:8554872 IAGP RGD:713793071 H AIF family member 2, ferroptosis suppressor gene taxon:9606 20260707 ClinVar RGD 1312709 AIFM2 HP:0002861 RGD:8554872 IAGP RGD:713793071 H AIF family member 2, ferroptosis suppressor gene taxon:9606 20260707 ClinVar RGD 1312709 AIFM2 HP:0007716 RGD:8554872 IAGP RGD:713793071 H AIF family member 2, ferroptosis suppressor gene taxon:9606 20260519 ClinVar RGD 1312709 AIFM2 HP:0012126 RGD:8554872 IAGP RGD:713746177 H AIF family member 2, ferroptosis suppressor gene taxon:9606 20260519 ClinVar RGD 1312709 AIFM2 HP:0012126 RGD:8554872 IAGP RGD:713783106 H AIF family member 2, ferroptosis suppressor gene taxon:9606 20260519 ClinVar RGD 1312709 AIFM2 HP:0100242 RGD:8554872 IAGP RGD:713746227 H AIF family member 2, ferroptosis suppressor gene taxon:9606 20260519 ClinVar RGD 1312709 AIFM2 HP:0100242 RGD:8554872 IAGP RGD:714090639 H AIF family member 2, ferroptosis suppressor gene taxon:9606 20260519 ClinVar RGD 1312709 AIFM2 HP:0100522 RGD:8554872 IAGP RGD:713746200 H AIF family member 2, ferroptosis suppressor gene taxon:9606 20260519 ClinVar RGD 1312709 AIFM2 HP:0100526 RGD:8554872 IAGP RGD:713793071 H AIF family member 2, ferroptosis suppressor gene taxon:9606 20260707 ClinVar RGD 1312711 RHOC HP:0001402 RGD:8554872 IAGP RGD:713352696 H ras homolog family member C gene taxon:9606 20260519 ClinVar RGD 1312711 RHOC HP:0002665 RGD:8554872 IAGP RGD:713660019 H ras homolog family member C gene taxon:9606 20260519 ClinVar RGD 1312711 RHOC HP:0002861 RGD:8554872 IAGP RGD:714206159 H ras homolog family member C gene taxon:9606 20260519 ClinVar RGD 1312711 RHOC HP:0004808 RGD:8554872 IAGP RGD:713660019 H ras homolog family member C gene taxon:9606 20260519 ClinVar RGD 1312711 RHOC HP:0006770 RGD:8554872 IAGP RGD:713660019 H ras homolog family member C gene taxon:9606 20260519 ClinVar RGD 1312711 RHOC HP:0006770 RGD:8554872 IAGP RGD:714210444 H ras homolog family member C gene taxon:9606 20260519 ClinVar RGD 1312711 RHOC HP:0012126 RGD:8554872 IAGP RGD:713660019 H ras homolog family member C gene taxon:9606 20260519 ClinVar RGD 1312711 RHOC HP:0012126 RGD:8554872 IAGP RGD:714160448 H ras homolog family member C gene taxon:9606 20260519 ClinVar RGD 1312711 RHOC HP:0030153 RGD:8554872 IAGP RGD:713660019 H ras homolog family member C gene taxon:9606 20260519 ClinVar RGD 1312711 RHOC HP:0100242 RGD:8554872 IAGP RGD:713660019 H ras homolog family member C gene taxon:9606 20260519 ClinVar RGD 1312711 RHOC HP:0100242 RGD:8554872 IAGP RGD:713955880 H ras homolog family member C gene taxon:9606 20260519 ClinVar RGD 1312711 RHOC HP:0100522 RGD:8554872 IAGP RGD:713660019 H ras homolog family member C gene taxon:9606 20260519 ClinVar RGD 1312711 RHOC HP:0100526 RGD:8554872 IAGP RGD:713660019 H ras homolog family member C gene taxon:9606 20260519 ClinVar RGD 1312711 RHOC HP:0100615 RGD:8554872 IAGP RGD:713660019 H ras homolog family member C gene taxon:9606 20260519 ClinVar RGD 1312711 RHOC HP:0100615 RGD:8554872 IAGP RGD:714206739 H ras homolog family member C gene taxon:9606 20260519 ClinVar RGD 1312713 CUTC HP:0002861 RGD:8554872 IAGP RGD:713780373 H cutC copper transporter gene taxon:9606 20260519 ClinVar RGD 1312713 CUTC HP:0002861 RGD:8554872 IAGP RGD:713780387 H cutC copper transporter gene taxon:9606 20260519 ClinVar RGD 1312713 CUTC HP:0006770 RGD:8554872 IAGP RGD:713780345 H cutC copper transporter gene taxon:9606 20260519 ClinVar RGD 1312713 CUTC HP:0006770 RGD:8554872 IAGP RGD:713780402 H cutC copper transporter gene taxon:9606 20260519 ClinVar RGD 1312715 LSM1 HP:0000023 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0000028 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0000047 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0000072 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0000486 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0001199 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0001249 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0001263 PMID:31010896|RGD:8554872 IAGP RGD:153000474 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0001290 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0001402 RGD:8554872 IAGP RGD:714086049 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260519 ClinVar RGD 1312715 LSM1 HP:0001562 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0001647 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0001718 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0001999 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0002019 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0002937 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0006770 RGD:8554872 IAGP RGD:714050250 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260519 ClinVar RGD 1312715 LSM1 HP:0010945 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0011649 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0011682 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0011797 RGD:8554872 IAGP RGD:713443706 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260519 ClinVar RGD 1312715 LSM1 HP:0011968 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0012126 RGD:8554872 IAGP RGD:713675245 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260519 ClinVar RGD 1312715 LSM1 HP:0012758 PMID:25741868|PMID:31010896|RGD:8554872 IAGP RGD:14398902 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0012758 PMID:31010896|RGD:8554872 IAGP RGD:153000474 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1312715 LSM1 HP:0100242 RGD:8554872 IAGP RGD:713675228 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260519 ClinVar RGD 1312715 LSM1 HP:0100242 RGD:8554872 IAGP RGD:713675245 H LSM1 homolog, mRNA degradation associated gene taxon:9606 20260707 ClinVar RGD 1312719 SYNE2 HP:0000006 MIM:612999|PMID:17761684|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1312719 SYNE2 HP:0000014 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000080 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000163 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156078011 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:13492966 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:14707330 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:156244973 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:156399316 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000301 PMID:28492532|RGD:8554872 IAGP RGD:156399316 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000360 PMID:28492532|RGD:8554872 IAGP RGD:151742217 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000366 PMID:28492532|RGD:8554872 IAGP RGD:13492966 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000366 PMID:28492532|RGD:8554872 IAGP RGD:156244973 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000496 PMID:28492532|RGD:8554872 IAGP RGD:151742217 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000508 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0000545 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156078011 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:13810830 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:14707330 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000707 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156078011 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:405866662 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000707 PMID:28492532|RGD:8554872 IAGP RGD:13492966 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000707 PMID:28492532|RGD:8554872 IAGP RGD:156244973 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000716 PMID:28492532|RGD:8554872 IAGP RGD:151742217 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000729 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:14707330 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:151742217 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000767 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0000836 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000912 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0000924 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126745050 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000929 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156078011 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0000978 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001249 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0001252 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0001276 PMID:28492532|RGD:8554872 IAGP RGD:14707330 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001284 PMID:25741868|RGD:8554872 IAGP RGD:151662045 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001288 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0001290 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156078011 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001290 PMID:28492532|RGD:8554872 IAGP RGD:156399316 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001315 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0001324 PMID:25741868|RGD:8554872 IAGP RGD:151662172 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001387 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0001402 RGD:8554872 IAGP RGD:713353754 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001469 PMID:28492532|RGD:8554872 IAGP RGD:151742217 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001469 PMID:28492532|RGD:8554872 IAGP RGD:156399316 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001508 PMID:28492532|RGD:8554872 IAGP RGD:156399316 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001513 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0001605 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0001626 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156078011 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001626 PMID:25741868|RGD:8554872 IAGP RGD:407427024 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001626 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001638 MIM:612999|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0001639 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0001639 PMID:25741868|RGD:8554872 IAGP RGD:714283137 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001644 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0001645 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0001645 PMID:25741868|RGD:8554872 IAGP RGD:714151365 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001657 PMID:28492532|RGD:8554872 IAGP RGD:9832536 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230214 ClinVar RGD 1312719 SYNE2 HP:0001678 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0001685 PMID:25741868|RGD:8554872 IAGP RGD:714283137 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001765 PMID:25741868|RGD:8554872 IAGP RGD:151662045 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001771 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0001787 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001877 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001919 PMID:25741868|RGD:8554872 IAGP RGD:151662172 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0001999 PMID:28492532|RGD:8554872 IAGP RGD:156399316 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002087 PMID:28492532|RGD:8554872 IAGP RGD:156399316 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002093 MIM:612999|PMID:17761684|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1312719 SYNE2 HP:0002093 PMID:28492532|RGD:8554872 IAGP RGD:156399316 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002099 PMID:28492532|RGD:8554872 IAGP RGD:13492966 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002099 PMID:28492532|RGD:8554872 IAGP RGD:156244973 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002099 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002155 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0002242 PMID:28492532|RGD:8554872 IAGP RGD:151742217 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002242 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002353 PMID:28492532|RGD:8554872 IAGP RGD:13492966 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002353 PMID:28492532|RGD:8554872 IAGP RGD:156244973 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002375 PMID:25741868|RGD:8554872 IAGP RGD:401901672 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002486 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0002497 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150447537 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230214 ClinVar RGD 1312719 SYNE2 HP:0002515 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0002577 PMID:28492532|RGD:8554872 IAGP RGD:151742217 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002577 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002650 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002721 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002747 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0002793 PMID:28492532|RGD:8554872 IAGP RGD:14707330 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002793 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002808 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0002861 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:26892859 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002861 RGD:8554872 IAGP RGD:713533979 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002861 RGD:8554872 IAGP RGD:713534078 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002861 RGD:8554872 IAGP RGD:713534413 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002960 PMID:28492532|RGD:8554872 IAGP RGD:14707330 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002960 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0002987 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0003003 RGD:8554872 IAGP RGD:713821927 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0003011 PMID:28492532|RGD:8554872 IAGP RGD:156399316 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0003141 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0003198 MIM:612999|ORPHA:98853|PMID:17761684|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1312719 SYNE2 HP:0003201 PMID:25741868|RGD:8554872 IAGP RGD:151662172 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0003236 MIM:612999|ORPHA:98853|PMID:17761684|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1312719 SYNE2 HP:0003306 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0003307 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0003390 PMID:25741868|RGD:8554872 IAGP RGD:151662045 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0003418 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0003458 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0003557 MIM:612999|PMID:17761684|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1312719 SYNE2 HP:0003560 MIM:612999|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0003560 PMID:25741868|RGD:8554872 IAGP RGD:152979542 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0003621 MIM:612999|PMID:17761684|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1312719 SYNE2 HP:0003687 MIM:612999|PMID:17761684|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1312719 SYNE2 HP:0003691 MIM:612999|ORPHA:98853|PMID:17761684|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1312719 SYNE2 HP:0003701 MIM:612999|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0003805 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0004631 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0004808 PMID:28492532|RGD:8554872 IAGP RGD:151848019 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0004808 RGD:8554872 IAGP RGD:150472525 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0004808 RGD:8554872 IAGP RGD:713552467 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0004808 RGD:8554872 IAGP RGD:714162351 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0004808 RGD:8554872 IAGP RGD:714163381 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0004808 RGD:8554872 IAGP RGD:714163388 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0004808 RGD:8554872 IAGP RGD:714163397 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0005110 PMID:25741868|RGD:8554872 IAGP RGD:714283137 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0005115 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0005155 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0006725 PMID:28492532|RGD:8554872 IAGP RGD:127319123 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0006725 RGD:8554872 IAGP RGD:713534222 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0006770 RGD:8554872 IAGP RGD:713534147 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0006770 RGD:8554872 IAGP RGD:713534157 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0006770 RGD:8554872 IAGP RGD:713534264 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0006770 RGD:8554872 IAGP RGD:713534295 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0006770 RGD:8554872 IAGP RGD:713534375 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0006770 RGD:8554872 IAGP RGD:713534461 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0006785 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0006785 PMID:25741868|RGD:8554872 IAGP RGD:405265513 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0007126 MIM:612999|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0008064 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0008948 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0008956 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0008994 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0008997 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0009027 PMID:25741868|RGD:8554872 IAGP RGD:151662045 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0009053 PMID:25741868|RGD:8554872 IAGP RGD:151662045 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0009125 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0009127 PMID:28492532|RGD:8554872 IAGP RGD:13492966 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260707 ClinVar RGD 1312719 SYNE2 HP:0009127 PMID:28492532|RGD:8554872 IAGP RGD:13810830 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260707 ClinVar RGD 1312719 SYNE2 HP:0010780 PMID:28492532|RGD:8554872 IAGP RGD:151742217 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:13492966 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:156244973 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0011463 MIM:612999|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0011675 MIM:612999|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0011797 RGD:8554872 IAGP RGD:713552452 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0011797 RGD:8554872 IAGP RGD:714163319 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0011797 RGD:8554872 IAGP RGD:714163392 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0011804 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156078011 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:13492966 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:13810830 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:151742217 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:156244973 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:156399316 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0011805 PMID:28492532|RGD:8554872 IAGP RGD:156399316 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0011807 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0011968 PMID:28492532|RGD:8554872 IAGP RGD:151742217 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0012126 PMID:28492532|RGD:8554872 IAGP RGD:151780634 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0012126 PMID:28492532|RGD:8554872 IAGP RGD:38459962 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0012126 PMID:28492532|RGD:8554872 IAGP RGD:713782027 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0012126 RGD:8554872 IAGP RGD:150440072 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0012126 RGD:8554872 IAGP RGD:713956235 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0012126 RGD:8554872 IAGP RGD:713956242 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0012126 RGD:8554872 IAGP RGD:713987319 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0012647 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0030051 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0030117 ORPHA:98853|RGD:8699517 IAGP H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20230821 HPO RGD 1312719 SYNE2 HP:0030237 PMID:25741868|RGD:8554872 IAGP RGD:151662045 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0032322 PMID:25741868|RGD:8554872 IAGP RGD:714259476 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0033127 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38480570 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0033127 PMID:25741868|RGD:8554872 IAGP RGD:405866724 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0033127 PMID:25741868|RGD:8554872 IAGP RGD:408365246 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0033127 PMID:25741868|RGD:8554872 IAGP RGD:597831900 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100021 PMID:25741868|RGD:8554872 IAGP RGD:151234867 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20220118 ClinVar RGD 1312719 SYNE2 HP:0100022 PMID:28492532|RGD:8554872 IAGP RGD:14707330 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100242 RGD:8554872 IAGP RGD:713533924 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100242 RGD:8554872 IAGP RGD:713534017 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100242 RGD:8554872 IAGP RGD:713534029 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100242 RGD:8554872 IAGP RGD:713534255 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100242 RGD:8554872 IAGP RGD:713956236 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100242 RGD:8554872 IAGP RGD:713956246 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100242 RGD:8554872 IAGP RGD:713956247 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100522 RGD:8554872 IAGP RGD:150511165 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100522 RGD:8554872 IAGP RGD:713534401 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100522 RGD:8554872 IAGP RGD:713552467 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100522 RGD:8554872 IAGP RGD:714163381 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100526 PMID:26467025|RGD:8554872 IAGP RGD:41406446 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100526 PMID:28492532|RGD:8554872 IAGP RGD:28872942 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100526 RGD:8554872 IAGP RGD:150440072 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100526 RGD:8554872 IAGP RGD:713534039 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100526 RGD:8554872 IAGP RGD:713534199 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0100526 RGD:8554872 IAGP RGD:713534324 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0200136 PMID:28492532|RGD:8554872 IAGP RGD:156399316 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0410009 PMID:28492532|RGD:8554872 IAGP RGD:151742217 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0410009 PMID:28492532|RGD:8554872 IAGP RGD:28910390 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312719 SYNE2 HP:0410173 PMID:25741868|RGD:8554872 IAGP RGD:401901672 H spectrin repeat containing nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000007 MIM:612703|PMID:19215732|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250912 HPO RGD 1312720 STIL HP:0000076 ORPHA:2512|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0000119 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000122 ORPHA:2512|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0000161 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000175 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000193 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000218 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000219 ORPHA:2512|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0000219 PMID:25741868|RGD:8554872 IAGP RGD:151662036 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000238 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000252 ORPHA:220386|ORPHA:2512|ORPHA:280195|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000252 PMID:19215732|PMID:25741868|RGD:8554872 IAGP RGD:714283315 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000256 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000278 PMID:25741868|RGD:8554872 IAGP RGD:151662036 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000286 PMID:25741868|RGD:8554872 IAGP RGD:151662036 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000322 PMID:25741868|RGD:8554872 IAGP RGD:151662036 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000340 MIM:612703|ORPHA:2512|PMID:25218063|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250912 HPO RGD 1312720 STIL HP:0000347 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11638753 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000347 PMID:25741868|RGD:8554872 IAGP RGD:151662036 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000350 PMID:25741868|RGD:8554872 IAGP RGD:151662036 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000407 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000411 PMID:25741868|RGD:8554872 IAGP RGD:151662036 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000426 PMID:25741868|RGD:8554872 IAGP RGD:151662036 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000448 MIM:612703|PMID:25218063|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250912 HPO RGD 1312720 STIL HP:0000457 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000478 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000582 ORPHA:2512|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0000586 PMID:25741868|RGD:8554872 IAGP RGD:151662036 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000601 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:401940403 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000708 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000708 PMID:25741868|RGD:8554872 IAGP RGD:155267847 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000708 PMID:25741868|RGD:8554872 IAGP RGD:155268382 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000716 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000736 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0000737 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000739 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000741 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:155267847 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:155268382 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0000772 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0000818 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000824 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000826 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0000830 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0000863 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0000871 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000873 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0000924 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0001249 MIM:612703|ORPHA:220386|ORPHA:280195|ORPHA:93924|ORPHA:93925|ORPHA:93926|PMID:19215732|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250912 HPO RGD 1312720 STIL HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11580292 H STIL centriolar assembly protein gene taxon:9606 20220420 ClinVar RGD 1312720 STIL HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:155267847 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:155268382 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0001250 MIM:612703|ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|PMID:25218063|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250912 HPO RGD 1312720 STIL HP:0001252 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11638753 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0001254 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:155267847 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:155268382 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0001257 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0001263 MIM:612703|ORPHA:2512|PMID:19215732|PMID:25218063|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250912 HPO RGD 1312720 STIL HP:0001263 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11638753 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155267847 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155268382 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:155267847 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:155268382 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0001273 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0001274 ORPHA:220386|ORPHA:2512|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0001290 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0001302 ORPHA:2512|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0001328 ORPHA:220386|ORPHA:280195|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0001336 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11638753 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0001344 MIM:612703|ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|PMID:25218063|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250912 HPO RGD 1312720 STIL HP:0001347 ORPHA:2512|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0001355 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0001371 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0001508 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0001510 ORPHA:220386|ORPHA:2512|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0001511 PMID:25741868|RGD:8554872 IAGP RGD:151662036 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0001545 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0001627 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0001680 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0001770 PMID:25741868|RGD:8554872 IAGP RGD:151662036 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0001915 PMID:19215732|PMID:25741868|RGD:8554872 IAGP RGD:714283315 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0002000 PMID:25741868|RGD:8554872 IAGP RGD:151662036 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0002013 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0002015 ORPHA:220386|ORPHA:280195|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0002019 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0002020 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0002033 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0002119 ORPHA:2512|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0002194 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11638753 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0002270 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0002282 ORPHA:2512|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0002363 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0002418 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0002451 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0002465 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0002474 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0002540 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0002650 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0002793 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0002827 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0002871 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0003103 ORPHA:2512|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0003468 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0003577 MIM:612703|PMID:19215732|PMID:25218063|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250912 HPO RGD 1312720 STIL HP:0004322 ORPHA:220386|ORPHA:2512|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0004808 RGD:8554872 IAGP RGD:714270126 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0005274 PMID:25741868|RGD:8554872 IAGP RGD:151662036 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0005968 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0005990 PMID:25741868|RGD:8554872 IAGP RGD:155267847 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0005990 PMID:25741868|RGD:8554872 IAGP RGD:155268382 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0006315 MIM:612703|ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|PMID:25218063|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250912 HPO RGD 1312720 STIL HP:0006528 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0006979 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0007018 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0007301 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0007330 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20240815 HPO RGD 1312720 STIL HP:0007333 ORPHA:2512|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0007375 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0008264 RGD:8554872 IAGP RGD:155641271 H STIL centriolar assembly protein gene taxon:9606 20221108 ClinVar RGD 1312720 STIL HP:0008619 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11638753 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0008936 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0008947 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0009879 MIM:612703|PMID:25218063|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250912 HPO RGD 1312720 STIL HP:0009914 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0009932 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0010654 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0010780 PMID:25741868|RGD:8554872 IAGP RGD:155267847 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0010780 PMID:25741868|RGD:8554872 IAGP RGD:155268382 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0010864 MIM:612703|ORPHA:2512|PMID:25218063|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20260209 HPO RGD 1312720 STIL HP:0011369 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11638753 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0011442 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0011451 MIM:612703|PMID:19215732|PMID:25218063|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250912 HPO RGD 1312720 STIL HP:0011451 PMID:25741868|RGD:8554872 IAGP RGD:155267847 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0011451 PMID:25741868|RGD:8554872 IAGP RGD:155268382 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0011471 ORPHA:220386|ORPHA:280195|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0011787 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0011951 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0011968 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0012110 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0012126 PMID:25741868|RGD:8554872 IAGP RGD:9683965 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0012126 RGD:8554872 IAGP RGD:713765974 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0012285 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0012443 PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|RGD:8554872 IAGP RGD:9683959 H STIL centriolar assembly protein gene taxon:9606 20240403 ClinVar RGD 1312720 STIL HP:0012443 PMID:26539891|RGD:8554872 IAGP RGD:12858924 H STIL centriolar assembly protein gene taxon:9606 20210323 ClinVar RGD 1312720 STIL HP:0012650 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0012718 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0012806 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0030084 PMID:25741868|RGD:8554872 IAGP RGD:151662036 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0030359 RGD:8554872 IAGP RGD:713862315 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0031860 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0031913 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0040064 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0040082 PMID:25741868|RGD:8554872 IAGP RGD:155267847 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0040082 PMID:25741868|RGD:8554872 IAGP RGD:155268382 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0040327 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0045005 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0100522 PMID:25741868|RGD:8554872 IAGP RGD:150448041 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0100522 RGD:8554872 IAGP RGD:150415612 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312720 STIL HP:0100704 ORPHA:220386|ORPHA:93924|ORPHA:93925|ORPHA:93926|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20250416 HPO RGD 1312720 STIL HP:0100710 ORPHA:280195|RGD:8699517 IAGP H STIL centriolar assembly protein gene taxon:9606 20230821 HPO RGD 1312720 STIL HP:0500041 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11638753 H STIL centriolar assembly protein gene taxon:9606 20260519 ClinVar RGD 1312722 MOSPD3 HP:0002861 RGD:8554872 IAGP RGD:713495104 H motile sperm domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312722 MOSPD3 HP:0003003 RGD:8554872 IAGP RGD:713728610 H motile sperm domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312722 MOSPD3 HP:0100242 RGD:8554872 IAGP RGD:713495126 H motile sperm domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312722 MOSPD3 HP:0100242 RGD:8554872 IAGP RGD:713720303 H motile sperm domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312722 MOSPD3 HP:0100522 RGD:8554872 IAGP RGD:713720303 H motile sperm domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312722 MOSPD3 HP:0100526 RGD:8554872 IAGP RGD:713495017 H motile sperm domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312722 MOSPD3 HP:0100526 RGD:8554872 IAGP RGD:713495043 H motile sperm domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1312725 RAD52 HP:0002664 PMID:35101336|RGD:8554872 IAGP RGD:714275407 H RAD52 DNA repair protein gene taxon:9606 20260519 ClinVar RGD 1312725 RAD52 HP:0002665 RGD:8554872 IAGP RGD:713431922 H RAD52 DNA repair protein gene taxon:9606 20260519 ClinVar RGD 1312725 RAD52 HP:0002861 RGD:8554872 IAGP RGD:713431841 H RAD52 DNA repair protein gene taxon:9606 20260519 ClinVar RGD 1312725 RAD52 HP:0006770 RGD:8554872 IAGP RGD:713432322 H RAD52 DNA repair protein gene taxon:9606 20260519 ClinVar RGD 1312725 RAD52 HP:0011797 RGD:8554872 IAGP RGD:714100544 H RAD52 DNA repair protein gene taxon:9606 20260519 ClinVar RGD 1312725 RAD52 HP:0033680 PMID:25741868|RGD:8554872 IAGP RGD:713815024 H RAD52 DNA repair protein gene taxon:9606 20260519 ClinVar RGD 1312725 RAD52 HP:0100242 RGD:8554872 IAGP RGD:713658703 H RAD52 DNA repair protein gene taxon:9606 20260519 ClinVar RGD 1312725 RAD52 HP:0100526 RGD:8554872 IAGP RGD:713431343 H RAD52 DNA repair protein gene taxon:9606 20260519 ClinVar RGD 1312725 RAD52 HP:0100526 RGD:8554872 IAGP RGD:713432216 H RAD52 DNA repair protein gene taxon:9606 20260519 ClinVar RGD 1312725 RAD52 onset HP:0100834 RGD:151361161|PMID:29245274 IAGP H RAD52 DNA repair protein gene taxon:9606 20220225 RGD RGD 1312725 RAD52 sexual_dimorphism HP:0100684 RGD:151361290|PMID:26035306 IAGP H RAD52 DNA repair protein gene taxon:9606 20220302 RGD RGD 1312725 RAD52 susceptibility HP:0002896 RGD:151361199|PMID:24729511 IAGP H RAD52 DNA repair protein gene taxon:9606 20220228 RGD RGD 1312725 RAD52 susceptibility HP:0003003 RGD:151361212|PMID:26735576 IAGP H RAD52 DNA repair protein gene taxon:9606 20220301 RGD RGD 1312725 RAD52 susceptibility HP:0003281 RGD:151660355|PMID:32401173 IAGP H RAD52 DNA repair protein gene taxon:9606 20220307 RGD RGD 1312725 RAD52 susceptibility HP:0006254 RGD:151660355|PMID:32401173 IAGP H RAD52 DNA repair protein gene taxon:9606 20220307 RGD RGD 1312725 RAD52 susceptibility HP:0011118 RGD:151660355|PMID:32401173 IAGP H RAD52 DNA repair protein gene taxon:9606 20220307 RGD RGD 1312725 RAD52 susceptibility HP:0030357 RGD:151660337|PMID:26629180 IAGP H RAD52 DNA repair protein gene taxon:9606 20220303 RGD RGD 1312725 RAD52 susceptibility HP:0030358 RGD:151660355|PMID:32401173 IAGP H RAD52 DNA repair protein gene taxon:9606 20220307 RGD RGD 1312725 RAD52 susceptibility HP:0030359 RGD:151660345|PMID:22585858 IAGP H RAD52 DNA repair protein gene taxon:9606 20220303 RGD RGD 1312725 RAD52 susceptibility HP:0033543 RGD:151660337|PMID:26629180 IAGP H RAD52 DNA repair protein gene taxon:9606 20220303 RGD RGD 1312725 RAD52 susceptibility HP:0100526 RGD:151660351|PMID:18449888 IAGP H RAD52 DNA repair protein gene taxon:9606 20220304 RGD RGD 1312725 RAD52 susceptibility HP:0100526 RGD:151660503|PMID:22382497 IAGP H RAD52 DNA repair protein gene taxon:9606 20220307 RGD RGD 1312725 RAD52 susceptibility HP:0100834 RGD:151361212|PMID:26735576 IAGP H RAD52 DNA repair protein gene taxon:9606 20220301 RGD RGD 1312725 RAD52 treatment HP:0030357 RGD:151660339|PMID:27531263 IAGP H RAD52 DNA repair protein gene taxon:9606 20220303 RGD RGD 1312730 USP8 HP:0000006 MIM:219090|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0000007 MIM:219090|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0000141 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0000252 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15119457 H ubiquitin specific peptidase 8 gene taxon:9606 20260519 ClinVar RGD 1312730 USP8 HP:0000639 ORPHA:401795|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0000708 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0000709 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0000712 MIM:219090|ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20250416 HPO RGD 1312730 USP8 HP:0000716 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0000725 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0000726 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0000787 MIM:219090|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0000819 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0000822 MIM:219090|ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20250416 HPO RGD 1312730 USP8 HP:0000869 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0000876 MIM:219090|ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20250416 HPO RGD 1312730 USP8 HP:0000939 MIM:219090|ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20250416 HPO RGD 1312730 USP8 HP:0000953 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0000963 MIM:219090|ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20250416 HPO RGD 1312730 USP8 HP:0000969 MIM:219090|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0000978 MIM:219090|ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20250416 HPO RGD 1312730 USP8 HP:0000979 MIM:219090|ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20250416 HPO RGD 1312730 USP8 HP:0001007 MIM:219090|ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20250416 HPO RGD 1312730 USP8 HP:0001041 MIM:219090|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001050 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001058 MIM:219090|ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20250416 HPO RGD 1312730 USP8 HP:0001061 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001065 MIM:219090|ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20250416 HPO RGD 1312730 USP8 HP:0001123 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001249 ORPHA:401795|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001256 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15119457 H ubiquitin specific peptidase 8 gene taxon:9606 20260519 ClinVar RGD 1312730 USP8 HP:0001258 ORPHA:401795|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15119457 H ubiquitin specific peptidase 8 gene taxon:9606 20260519 ClinVar RGD 1312730 USP8 HP:0001297 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001317 ORPHA:401795|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001324 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001345 MIM:219090|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001402 RGD:8554872 IAGP RGD:714158847 H ubiquitin specific peptidase 8 gene taxon:9606 20260519 ClinVar RGD 1312730 USP8 HP:0001513 MIM:219090|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001626 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001658 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001761 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15119457 H ubiquitin specific peptidase 8 gene taxon:9606 20260519 ClinVar RGD 1312730 USP8 HP:0001762 ORPHA:401795|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001888 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001948 MIM:219090|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001952 MIM:219090|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001956 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0001974 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002061 ORPHA:401795|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002064 ORPHA:401795|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002086 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002169 ORPHA:401795|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002209 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002315 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002354 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002395 ORPHA:401795|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002500 ORPHA:401795|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002509 ORPHA:401795|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002650 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15119457 H ubiquitin specific peptidase 8 gene taxon:9606 20260519 ClinVar RGD 1312730 USP8 HP:0002690 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002721 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002808 MIM:219090|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002893 MIM:219090|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002900 MIM:219090|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0002953 MIM:219090|ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20250416 HPO RGD 1312730 USP8 HP:0003118 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0003154 MIM:219090|ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20250416 HPO RGD 1312730 USP8 HP:0003202 MIM:219090|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0003466 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0004324 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0004586 MIM:219090|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0004808 RGD:8554872 IAGP RGD:713569024 H ubiquitin specific peptidase 8 gene taxon:9606 20260519 ClinVar RGD 1312730 USP8 HP:0006770 RGD:8554872 IAGP RGD:713750100 H ubiquitin specific peptidase 8 gene taxon:9606 20260519 ClinVar RGD 1312730 USP8 HP:0006770 RGD:8554872 IAGP RGD:713750124 H ubiquitin specific peptidase 8 gene taxon:9606 20260519 ClinVar RGD 1312730 USP8 HP:0007126 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0007807 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0008221 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0008291 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0010284 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0010741 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0010885 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0011370 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0011999 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0012030 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0012743 MIM:219090|ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20250416 HPO RGD 1312730 USP8 HP:0025017 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0025269 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0025383 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0030200 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0031284 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0031364 MIM:219090|ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20250416 HPO RGD 1312730 USP8 HP:0031589 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0031845 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0031891 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0033505 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20240815 HPO RGD 1312730 USP8 HP:0040270 MIM:219090|ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20250416 HPO RGD 1312730 USP8 HP:0100526 RGD:8554872 IAGP RGD:713750084 H ubiquitin specific peptidase 8 gene taxon:9606 20260519 ClinVar RGD 1312730 USP8 HP:0100852 MIM:219090|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20240307 HPO RGD 1312730 USP8 HP:0200042 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312730 USP8 HP:0500011 ORPHA:96253|RGD:8699517 IAGP H ubiquitin specific peptidase 8 gene taxon:9606 20230821 HPO RGD 1312732 MAPKAPK3 HP:0000006 MIM:617111|PMID:26744326|RGD:8699517 IAGP H MAPK activated protein kinase 3 gene taxon:9606 20260209 HPO RGD 1312732 MAPKAPK3 HP:0000510 MIM:617111|PMID:26744326|RGD:8699517 IAGP H MAPK activated protein kinase 3 gene taxon:9606 20260209 HPO RGD 1312732 MAPKAPK3 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:150330457 H MAPK activated protein kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312732 MAPKAPK3 HP:0000548 PMID:28492532|RGD:8554872 IAGP RGD:150330457 H MAPK activated protein kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312732 MAPKAPK3 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596945762 H MAPK activated protein kinase 3 gene taxon:9606 20250107 ClinVar RGD 1312732 MAPKAPK3 HP:0000580 PMID:25741868|RGD:8554872 IAGP RGD:401919869 H MAPK activated protein kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312732 MAPKAPK3 HP:0000622 PMID:25741868|RGD:8554872 IAGP RGD:401919869 H MAPK activated protein kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312732 MAPKAPK3 HP:0006770 RGD:8554872 IAGP RGD:713364890 H MAPK activated protein kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312732 MAPKAPK3 HP:0006770 RGD:8554872 IAGP RGD:713364926 H MAPK activated protein kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312732 MAPKAPK3 HP:0007401 MIM:617111|PMID:26744326|RGD:8699517 IAGP H MAPK activated protein kinase 3 gene taxon:9606 20250912 HPO RGD 1312732 MAPKAPK3 HP:0007663 MIM:617111|PMID:26744326|RGD:8699517 IAGP H MAPK activated protein kinase 3 gene taxon:9606 20260209 HPO RGD 1312732 MAPKAPK3 HP:0011462 MIM:617111|PMID:26744326|RGD:8699517 IAGP H MAPK activated protein kinase 3 gene taxon:9606 20260209 HPO RGD 1312732 MAPKAPK3 HP:0011506 MIM:617111|PMID:26744326|RGD:8699517 IAGP H MAPK activated protein kinase 3 gene taxon:9606 20250912 HPO RGD 1312732 MAPKAPK3 HP:0012126 RGD:8554872 IAGP RGD:713939069 H MAPK activated protein kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312732 MAPKAPK3 HP:0100522 RGD:8554872 IAGP RGD:713364528 H MAPK activated protein kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312732 MAPKAPK3 HP:0100522 RGD:8554872 IAGP RGD:713364664 H MAPK activated protein kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312732 MAPKAPK3 HP:0100522 RGD:8554872 IAGP RGD:713364699 H MAPK activated protein kinase 3 gene taxon:9606 20260519 ClinVar RGD 1312734 LPXN HP:0003003 RGD:8554872 IAGP RGD:713986929 H leupaxin gene taxon:9606 20260519 ClinVar RGD 1312734 LPXN HP:0100242 RGD:8554872 IAGP RGD:713383701 H leupaxin gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0000006 MIM:617004|PMID:15133510|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20250912 HPO RGD 1312738 SEC63 HP:0000107 PMID:25741868|RGD:8554872 IAGP RGD:10047970 H SEC63 protein translocation regulator gene taxon:9606 20260707 ClinVar RGD 1312738 SEC63 HP:0000107 RGD:8554872 IAGP RGD:405853641 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0000107 RGD:8554872 IAGP RGD:714200608 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0000113 RGD:8554872 IAGP RGD:405853641 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0000952 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20241212 HPO RGD 1312738 SEC63 HP:0001080 PMID:20095989|PMID:25741868|RGD:8554872 IAGP RGD:151741193 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0001080 PMID:25741868|RGD:8554872 IAGP RGD:126736735 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0001402 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11593841 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0001402 RGD:8554872 IAGP RGD:713758522 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0001402 RGD:8554872 IAGP RGD:713758540 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0001407 MIM:617004|PMID:15133510|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20250912 HPO RGD 1312738 SEC63 HP:0001654 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20241212 HPO RGD 1312738 SEC63 HP:0001732 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20230821 HPO RGD 1312738 SEC63 HP:0002020 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20230821 HPO RGD 1312738 SEC63 HP:0002027 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20230821 HPO RGD 1312738 SEC63 HP:0002086 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20230821 HPO RGD 1312738 SEC63 HP:0002093 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20230821 HPO RGD 1312738 SEC63 HP:0002094 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20241212 HPO RGD 1312738 SEC63 HP:0002239 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20230821 HPO RGD 1312738 SEC63 HP:0002240 MIM:617004|ORPHA:2924|PMID:15133510|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20250912 HPO RGD 1312738 SEC63 HP:0002617 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20230821 HPO RGD 1312738 SEC63 HP:0002665 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11593841 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0002665 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150502928 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0002861 RGD:8554872 IAGP RGD:713504226 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0003003 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150502928 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0003155 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20241212 HPO RGD 1312738 SEC63 HP:0003270 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20230821 HPO RGD 1312738 SEC63 HP:0003418 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20230821 HPO RGD 1312738 SEC63 HP:0003573 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20230821 HPO RGD 1312738 SEC63 HP:0003581 MIM:617004|PMID:15133510|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20250912 HPO RGD 1312738 SEC63 HP:0004808 RGD:8554872 IAGP RGD:713441810 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0004808 RGD:8554872 IAGP RGD:714165568 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0004944 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20241212 HPO RGD 1312738 SEC63 HP:0005562 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20230821 HPO RGD 1312738 SEC63 HP:0005562 RGD:8554872 IAGP RGD:714200608 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0006557 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20230821 HPO RGD 1312738 SEC63 HP:0006557 RGD:8554872 IAGP RGD:8556679 H SEC63 protein translocation regulator gene taxon:9606 20210323 ClinVar RGD 1312738 SEC63 HP:0006560 PMID:25741868|RGD:8554872 IAGP RGD:126736735 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0006563 PMID:25741868|RGD:8554872 IAGP RGD:126736735 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0006770 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11593841 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0006770 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150502928 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0008872 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20230821 HPO RGD 1312738 SEC63 HP:0010741 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20241212 HPO RGD 1312738 SEC63 HP:0011797 RGD:8554872 IAGP RGD:713434791 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0011797 RGD:8554872 IAGP RGD:713439233 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0030153 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11593841 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0030153 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151351827 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0030153 RGD:8554872 IAGP RGD:150496739 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0030948 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20241212 HPO RGD 1312738 SEC63 HP:0033842 ORPHA:2924|RGD:8699517 IAGP H SEC63 protein translocation regulator gene taxon:9606 20241212 HPO RGD 1312738 SEC63 HP:0100522 RGD:8554872 IAGP RGD:713504085 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312738 SEC63 HP:0100615 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11593841 H SEC63 protein translocation regulator gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0000006 MIM:617073|PMID:27321946|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20251023 HPO RGD 1312744 WNT10B HP:0000007 MIM:225300|PMID:18515319|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20260209 HPO RGD 1312744 WNT10B HP:0000202 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0000256 PMID:25741868|RGD:8554872 IAGP RGD:14696334 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0000407 ORPHA:2440|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0000526 ORPHA:2440|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0000677 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0000679 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0000684 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0000684 PMID:25741868|RGD:8554872 IAGP RGD:14696334 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0000685 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0000687 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0000689 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0000690 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0000691 MIM:617073|ORPHA:99798|PMID:27321946|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20250912 HPO RGD 1312744 WNT10B HP:0000691 PMID:25741868|RGD:8554872 IAGP RGD:14696334 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0000696 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:14696334 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0000958 MIM:617073|PMID:27321946|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20250912 HPO RGD 1312744 WNT10B HP:0000958 PMID:25741868|RGD:8554872 IAGP RGD:14696334 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0001159 PMID:18515319|PMID:25741868|PMID:28492532|PMID:36035248|RGD:8554872 IAGP RGD:153301450 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0001171 MIM:225300|ORPHA:2440|PMID:18515319|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20250912 HPO RGD 1312744 WNT10B HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:14696334 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:14696334 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:14696334 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0001592 MIM:617073|PMID:27321946|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20250912 HPO RGD 1312744 WNT10B HP:0001642 PMID:25741868|RGD:8554872 IAGP RGD:14696334 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0001770 MIM:225300|PMID:18515319|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20250912 HPO RGD 1312744 WNT10B HP:0001839 MIM:225300|ORPHA:2440|PMID:18515319|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20250912 HPO RGD 1312744 WNT10B HP:0001839 PMID:18515319|PMID:25741868|PMID:28492532|PMID:36035248|RGD:8554872 IAGP RGD:153301450 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0001849 MIM:225300|PMID:18515319|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20250912 HPO RGD 1312744 WNT10B HP:0003307 PMID:25741868|RGD:8554872 IAGP RGD:14696334 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0003829 MIM:225300|PMID:18515319|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20250912 HPO RGD 1312744 WNT10B HP:0004050 ORPHA:2440|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0004058 ORPHA:2440|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20241212 HPO RGD 1312744 WNT10B HP:0005216 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0005817 PMID:25741868|RGD:8554872 IAGP RGD:151348364 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0006101 MIM:225300|ORPHA:2440|PMID:18515319|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20250912 HPO RGD 1312744 WNT10B HP:0006289 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0006297 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0006336 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0006342 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0006344 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0006482 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0007464 PMID:25741868|RGD:8554872 IAGP RGD:14696334 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0008070 MIM:617073|PMID:27321946|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20250912 HPO RGD 1312744 WNT10B HP:0009380 MIM:225300|PMID:18515319|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20250912 HPO RGD 1312744 WNT10B HP:0010442 PMID:25741868|RGD:8554872 IAGP RGD:13609118 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0011051 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0011053 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0011056 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0011078 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0011219 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0011359 PMID:25741868|RGD:8554872 IAGP RGD:14696334 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312744 WNT10B HP:0012165 ORPHA:2440|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0012472 ORPHA:99798|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20230821 HPO RGD 1312744 WNT10B HP:0045075 MIM:617073|PMID:27321946|RGD:8699517 IAGP H Wnt family member 10B gene taxon:9606 20250912 HPO RGD 1312744 WNT10B HP:0100543 PMID:25741868|RGD:8554872 IAGP RGD:14696334 H Wnt family member 10B gene taxon:9606 20260519 ClinVar RGD 1312746 TNFRSF25 HP:0001402 RGD:8554872 IAGP RGD:714195105 H TNF receptor superfamily member 25 gene taxon:9606 20260519 ClinVar RGD 1312746 TNFRSF25 HP:0003003 RGD:8554872 IAGP RGD:405283471 H TNF receptor superfamily member 25 gene taxon:9606 20260519 ClinVar RGD 1312746 TNFRSF25 HP:0004808 RGD:8554872 IAGP RGD:405278849 H TNF receptor superfamily member 25 gene taxon:9606 20260519 ClinVar RGD 1312746 TNFRSF25 HP:0004808 RGD:8554872 IAGP RGD:405283471 H TNF receptor superfamily member 25 gene taxon:9606 20260519 ClinVar RGD 1312746 TNFRSF25 HP:0007716 RGD:8554872 IAGP RGD:405278849 H TNF receptor superfamily member 25 gene taxon:9606 20260519 ClinVar RGD 1312746 TNFRSF25 HP:0030153 RGD:8554872 IAGP RGD:405283471 H TNF receptor superfamily member 25 gene taxon:9606 20260519 ClinVar RGD 1312746 TNFRSF25 HP:0100242 RGD:8554872 IAGP RGD:713750888 H TNF receptor superfamily member 25 gene taxon:9606 20260519 ClinVar RGD 1312746 TNFRSF25 HP:0100522 RGD:8554872 IAGP RGD:405278849 H TNF receptor superfamily member 25 gene taxon:9606 20260519 ClinVar RGD 1312746 TNFRSF25 HP:0100522 RGD:8554872 IAGP RGD:713748294 H TNF receptor superfamily member 25 gene taxon:9606 20260519 ClinVar RGD 1312746 TNFRSF25 HP:0100526 RGD:8554872 IAGP RGD:713748237 H TNF receptor superfamily member 25 gene taxon:9606 20260519 ClinVar RGD 1312746 TNFRSF25 HP:0100526 RGD:8554872 IAGP RGD:713750731 H TNF receptor superfamily member 25 gene taxon:9606 20260519 ClinVar RGD 1312748 KCTD5 HP:0001402 RGD:8554872 IAGP RGD:713355800 H potassium channel tetramerization domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1312748 KCTD5 HP:0006770 RGD:8554872 IAGP RGD:714046721 H potassium channel tetramerization domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1312748 KCTD5 HP:0100242 RGD:8554872 IAGP RGD:714046747 H potassium channel tetramerization domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1312748 KCTD5 HP:0100522 RGD:8554872 IAGP RGD:714046747 H potassium channel tetramerization domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1312748 KCTD5 HP:0100526 RGD:8554872 IAGP RGD:714047277 H potassium channel tetramerization domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1312748 KCTD5 HP:0100526 RGD:8554872 IAGP RGD:714047374 H potassium channel tetramerization domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1312751 FKBP3 HP:0012126 RGD:8554872 IAGP RGD:713955949 H FKBP prolyl isomerase 3 gene taxon:9606 20260519 ClinVar RGD 1312751 FKBP3 HP:0012126 RGD:8554872 IAGP RGD:713955951 H FKBP prolyl isomerase 3 gene taxon:9606 20260519 ClinVar RGD 1312751 FKBP3 HP:0100242 RGD:8554872 IAGP RGD:714159422 H FKBP prolyl isomerase 3 gene taxon:9606 20260519 ClinVar RGD 1312751 FKBP3 HP:0100242 RGD:8554872 IAGP RGD:714211592 H FKBP prolyl isomerase 3 gene taxon:9606 20260519 ClinVar RGD 1312753 DRG1 HP:0000007 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0000232 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0000248 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0000252 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0000358 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0000369 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0000431 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0000687 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0000958 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0000964 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0001250 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0001257 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0001371 RGD:8554872 IAGP RGD:25317068 H developmentally regulated GTP binding protein 1 gene taxon:9606 20210323 ClinVar RGD 1312753 DRG1 HP:0001402 RGD:8554872 IAGP RGD:713736451 H developmentally regulated GTP binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1312753 DRG1 HP:0001508 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0001511 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0001762 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0001890 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0002475 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0002719 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0002861 RGD:8554872 IAGP RGD:713740872 H developmentally regulated GTP binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1312753 DRG1 HP:0003508 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0003577 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0009891 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0010702 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0010764 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0011220 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0012385 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0012745 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0012758 MIM:620641|PMID:37179472|RGD:8699517 IAGP H developmentally regulated GTP binding protein 1 gene taxon:9606 20250912 HPO RGD 1312753 DRG1 HP:0100522 RGD:8554872 IAGP RGD:713740855 H developmentally regulated GTP binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1312755 CEBPZ HP:0001402 RGD:8554872 IAGP RGD:713794942 H CCAAT enhancer binding protein zeta gene taxon:9606 20260519 ClinVar RGD 1312755 CEBPZ HP:0002861 RGD:8554872 IAGP RGD:713794942 H CCAAT enhancer binding protein zeta gene taxon:9606 20260519 ClinVar RGD 1312755 CEBPZ HP:0004808 RGD:8554872 IAGP RGD:713789347 H CCAAT enhancer binding protein zeta gene taxon:9606 20260519 ClinVar RGD 1312755 CEBPZ HP:0004808 RGD:8554872 IAGP RGD:714040624 H CCAAT enhancer binding protein zeta gene taxon:9606 20260519 ClinVar RGD 1312755 CEBPZ HP:0006770 RGD:8554872 IAGP RGD:713772635 H CCAAT enhancer binding protein zeta gene taxon:9606 20260519 ClinVar RGD 1312755 CEBPZ HP:0006770 RGD:8554872 IAGP RGD:713772666 H CCAAT enhancer binding protein zeta gene taxon:9606 20260519 ClinVar RGD 1312755 CEBPZ HP:0006770 RGD:8554872 IAGP RGD:713794942 H CCAAT enhancer binding protein zeta gene taxon:9606 20260519 ClinVar RGD 1312755 CEBPZ HP:0011797 RGD:8554872 IAGP RGD:713794942 H CCAAT enhancer binding protein zeta gene taxon:9606 20260519 ClinVar RGD 1312755 CEBPZ HP:0012126 RGD:8554872 IAGP RGD:713794942 H CCAAT enhancer binding protein zeta gene taxon:9606 20260519 ClinVar RGD 1312755 CEBPZ HP:0100242 RGD:8554872 IAGP RGD:713794942 H CCAAT enhancer binding protein zeta gene taxon:9606 20260519 ClinVar RGD 1312755 CEBPZ HP:0100526 RGD:8554872 IAGP RGD:713772609 H CCAAT enhancer binding protein zeta gene taxon:9606 20260519 ClinVar RGD 1312755 CEBPZ HP:0100615 RGD:8554872 IAGP RGD:713772584 H CCAAT enhancer binding protein zeta gene taxon:9606 20260519 ClinVar RGD 1312757 NEK4 HP:0001402 RGD:8554872 IAGP RGD:713772291 H NIMA related kinase 4 gene taxon:9606 20260519 ClinVar RGD 1312757 NEK4 HP:0001744 RGD:8554872 IAGP RGD:11558309 H NIMA related kinase 4 gene taxon:9606 20260519 ClinVar RGD 1312757 NEK4 HP:0003003 RGD:8554872 IAGP RGD:713928645 H NIMA related kinase 4 gene taxon:9606 20260519 ClinVar RGD 1312757 NEK4 HP:0006770 RGD:8554872 IAGP RGD:713375457 H NIMA related kinase 4 gene taxon:9606 20260519 ClinVar RGD 1312757 NEK4 HP:0011797 RGD:8554872 IAGP RGD:713925016 H NIMA related kinase 4 gene taxon:9606 20260519 ClinVar RGD 1312757 NEK4 HP:0012126 RGD:8554872 IAGP RGD:713928656 H NIMA related kinase 4 gene taxon:9606 20260519 ClinVar RGD 1312757 NEK4 HP:0012126 RGD:8554872 IAGP RGD:713940006 H NIMA related kinase 4 gene taxon:9606 20260519 ClinVar RGD 1312757 NEK4 HP:0100242 RGD:8554872 IAGP RGD:713375622 H NIMA related kinase 4 gene taxon:9606 20260519 ClinVar RGD 1312757 NEK4 HP:0100522 RGD:8554872 IAGP RGD:713375679 H NIMA related kinase 4 gene taxon:9606 20260519 ClinVar RGD 1312757 NEK4 HP:0100526 RGD:8554872 IAGP RGD:713375552 H NIMA related kinase 4 gene taxon:9606 20260519 ClinVar RGD 1312757 NEK4 HP:0100526 RGD:8554872 IAGP RGD:713579895 H NIMA related kinase 4 gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000006 MIM:610357|MIM:614255|PMID:21376300|PMID:25585697|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0000007 MIM:201300|MIM:610357|MIM:614213|MIM:620607|PMID:21487076|PMID:21820098|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0000011 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000028 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000028 PMID:28492532|RGD:8554872 IAGP RGD:15119078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000047 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000062 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000076 PMID:28492532|RGD:8554872 IAGP RGD:15119078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000098 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000118 PMID:28492532|RGD:8554872 IAGP RGD:156447813 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000152 PMID:25741868|PMID:28492532|PMID:28834584|PMID:31455732|PMID:31488895|PMID:31813911|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33880452|PMID:34356170|PMID:34469436|PMID:34487232|PMID:38785164|RGD:8554872 IAGP RGD:12906398 H kinesin family member 1A gene taxon:9606 20260609 ClinVar RGD 1312759 KIF1A HP:0000175 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000204 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000224 MIM:201300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0000238 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000248 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000248 PMID:25741868|RGD:8554872 IAGP RGD:713494113 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000252 MIM:614255|PMID:25265257|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0000252 PMID:25265257|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26994895|PMID:28492532|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:32096284|PMID:32737135|RGD:8554872 IAGP RGD:9686560 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0000252 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686557 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000252 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000252 PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088|RGD:8554872 IAGP RGD:12911526 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:9686558 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0000252 PMID:28492532|RGD:8554872 IAGP RGD:156222958 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000256 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000268 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000316 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000324 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000356 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000364 PMID:25741868|PMID:26354034|PMID:27034427|PMID:28492532|PMID:28708303|PMID:29915382|RGD:8554872 IAGP RGD:12893804 H kinesin family member 1A gene taxon:9606 20260707 ClinVar RGD 1312759 KIF1A HP:0000384 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000405 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000405 PMID:28492532|RGD:8554872 IAGP RGD:156233322 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000479 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000481 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000483 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000486 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000486 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000486 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000486 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000496 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38463762 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000504 PMID:28492532|RGD:8554872 IAGP RGD:15119078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000505 PMID:25741868|PMID:26354034|PMID:27034427|PMID:28492532|PMID:28708303|PMID:29915382|RGD:8554872 IAGP RGD:12893804 H kinesin family member 1A gene taxon:9606 20260707 ClinVar RGD 1312759 KIF1A HP:0000505 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000508 PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088|RGD:8554872 IAGP RGD:12911526 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000518 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000518 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000518 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000545 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000568 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000570 ORPHA:101010|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0000572 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000587 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000593 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000601 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000639 MIM:614255|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0000639 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000639 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000639 PMID:25741868|RGD:8554872 IAGP RGD:155643713 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000646 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000646 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000648 MIM:614255|PMID:25265257|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0000648 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000648 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000648 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000657 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000664 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000707 PMID:25741868|PMID:28492532|PMID:28834584|PMID:31455732|PMID:31488895|PMID:31813911|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33880452|PMID:34356170|PMID:34469436|PMID:34487232|PMID:38785164|RGD:8554872 IAGP RGD:12906398 H kinesin family member 1A gene taxon:9606 20260609 ClinVar RGD 1312759 KIF1A HP:0000707 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13607861 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:405866591 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000708 PMID:25741868|RGD:8554872 IAGP RGD:713494113 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000708 RGD:8554872 IAGP RGD:405869565 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000717 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151662428 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000717 PMID:28492532|RGD:8554872 IAGP RGD:401948532 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000717 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000718 PMID:28492532|RGD:8554872 IAGP RGD:156233322 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000722 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000726 PMID:25741868|RGD:8554872 IAGP RGD:401798471 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000729 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38463762 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000729 PMID:28492532|RGD:8554872 IAGP RGD:156233322 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000739 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000750 MIM:614255|PMID:25265257|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0000750 PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088|RGD:8554872 IAGP RGD:12911526 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:150557076 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000750 RGD:8554872 IAGP RGD:405869578 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000762 MIM:201300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0000776 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000787 RGD:8554872 IAGP RGD:151662498 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000790 RGD:8554872 IAGP RGD:151662498 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000819 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000953 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000957 PMID:26354034|RGD:8554872 IAGP RGD:40886710 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000965 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0000970 MIM:201300|PMID:16534117|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0000975 ORPHA:970|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0000998 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001010 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001026 PMID:25741868|PMID:31488895|RGD:8554872 IAGP RGD:243052538 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001069 MIM:201300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0001152 MIM:620607|PMID:21487076|PMID:22258533|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0001182 ORPHA:970|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0001249 MIM:614213|MIM:614255|MIM:620607|PMID:21376300|PMID:21487076|PMID:21820098|PMID:25265257|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0001249 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:25265257|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26994895|PMID:28492532|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:32096284|PMID:32737135|RGD:8554872 IAGP RGD:9686560 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:25265257|PMID:25741868|PMID:27146152|PMID:28333917|PMID:28492532|PMID:29915382|PMID:39730866|RGD:8554872 IAGP RGD:9686553 H kinesin family member 1A gene taxon:9606 20260707 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686554 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686555 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686557 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686559 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686562 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088|RGD:8554872 IAGP RGD:12911526 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13212141 H kinesin family member 1A gene taxon:9606 20210406 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38596744 H kinesin family member 1A gene taxon:9606 20220420 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:11523569 H kinesin family member 1A gene taxon:9606 20210323 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:150557076 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:39456655 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:9686558 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0001249 PMID:28492532|RGD:8554872 IAGP RGD:13607829 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001249 RGD:12911226|PMID:25265257 IAGP H kinesin family member 1A gene taxon:9606 20170710 RGD RGD 1312759 KIF1A HP:0001249 RGD:8554872 IAGP RGD:150338381 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 MIM:614255|PMID:25265257|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0001250 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38463762 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 PMID:25741868|PMID:28492532|PMID:33880452|RGD:8554872 IAGP RGD:13483401 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13607854 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:150557076 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:39456417 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:9686558 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:13493641 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:13607829 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:156233322 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:42723675 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 RGD:8554872 IAGP RGD:150338381 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 RGD:8554872 IAGP RGD:151662498 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 RGD:8554872 IAGP RGD:152978476 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001250 RGD:8554872 IAGP RGD:153301161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001251 MIM:610357|MIM:614255|MIM:620607|ORPHA:101010|PMID:21487076|PMID:25265257|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0001251 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001251 PMID:25209998|PMID:25741868|PMID:29589274|RGD:8554872 IAGP RGD:40887991 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001251 PMID:25741868|PMID:26354034|PMID:28492532|PMID:30564185|PMID:31616253|PMID:32746806|PMID:33880452|PMID:35917346|PMID:36247768|PMID:36305856|PMID:37251230|RGD:8554872 IAGP RGD:11633256 H kinesin family member 1A gene taxon:9606 20260707 ClinVar RGD 1312759 KIF1A HP:0001251 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001251 PMID:25741868|PMID:27034427|RGD:8554872 IAGP RGD:13478560 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001251 PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088|RGD:8554872 IAGP RGD:12911526 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001251 PMID:25741868|PMID:31488895|RGD:8554872 IAGP RGD:243052884 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:713392441 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:713494113 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001252 MIM:201300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0001252 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001252 PMID:25741868|PMID:26354034|PMID:27034427|PMID:28492532|PMID:28708303|PMID:29915382|RGD:8554872 IAGP RGD:12893804 H kinesin family member 1A gene taxon:9606 20260707 ClinVar RGD 1312759 KIF1A HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:713494113 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001257 MIM:614255|MIM:620607|PMID:22258533|PMID:25265257|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0001257 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001257 PMID:25265257|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26994895|PMID:28492532|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:32096284|PMID:32737135|RGD:8554872 IAGP RGD:9686560 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0001257 PMID:25741868|PMID:26354034|PMID:28492532|PMID:30564185|PMID:31616253|PMID:32746806|PMID:33880452|PMID:35917346|PMID:36247768|PMID:36305856|PMID:37251230|RGD:8554872 IAGP RGD:11633256 H kinesin family member 1A gene taxon:9606 20260707 ClinVar RGD 1312759 KIF1A HP:0001257 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001257 PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088|RGD:8554872 IAGP RGD:12911526 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001257 PMID:25741868|PMID:28492532|PMID:31488895|PMID:34782662|RGD:8554872 IAGP RGD:151865109 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001257 PMID:25741868|PMID:28492532|PMID:33880452|RGD:8554872 IAGP RGD:13483401 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001257 PMID:28492532|RGD:8554872 IAGP RGD:13821846 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001257 RGD:12911226|PMID:25265257 IAGP H kinesin family member 1A gene taxon:9606 20170710 RGD RGD 1312759 KIF1A HP:0001258 MIM:610357|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0001258 PMID:16199547|PMID:21820098|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127234140 H kinesin family member 1A gene taxon:9606 20250311 ClinVar RGD 1312759 KIF1A HP:0001258 PMID:17576681|PMID:25741868|PMID:28492532|PMID:34983064|PMID:9536098|RGD:8554872 IAGP RGD:127234145 H kinesin family member 1A gene taxon:9606 20250311 ClinVar RGD 1312759 KIF1A HP:0001258 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:10404115 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001258 PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11584096 H kinesin family member 1A gene taxon:9606 20260707 ClinVar RGD 1312759 KIF1A HP:0001258 PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088|RGD:8554872 IAGP RGD:12911526 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001258 PMID:25741868|PMID:28492532|PMID:31488895|PMID:34782662|RGD:8554872 IAGP RGD:151865109 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001258 PMID:25741868|PMID:28492532|PMID:33880452|RGD:8554872 IAGP RGD:13483401 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001258 PMID:25741868|PMID:31488895|RGD:8554872 IAGP RGD:243052538 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001258 PMID:25741868|RGD:8554872 IAGP RGD:127234142 H kinesin family member 1A gene taxon:9606 20210608 ClinVar RGD 1312759 KIF1A HP:0001258 PMID:25741868|RGD:8554872 IAGP RGD:127234148 H kinesin family member 1A gene taxon:9606 20210608 ClinVar RGD 1312759 KIF1A HP:0001258 PMID:25741868|RGD:8554872 IAGP RGD:39456655 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:13821846 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001260 PMID:25741868|RGD:8554872 IAGP RGD:736707655 H kinesin family member 1A gene taxon:9606 20260707 ClinVar RGD 1312759 KIF1A HP:0001260 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001263 MIM:614213|MIM:614255|PMID:21820098|PMID:25265257|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0001263 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151662428 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001263 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001263 PMID:25209998|PMID:25741868|PMID:29589274|RGD:8554872 IAGP RGD:40887991 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001263 PMID:25741868|PMID:26354034|PMID:27034427|PMID:28492532|PMID:28708303|PMID:29915382|RGD:8554872 IAGP RGD:12893804 H kinesin family member 1A gene taxon:9606 20260707 ClinVar RGD 1312759 KIF1A HP:0001263 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001263 PMID:25741868|PMID:27034427|RGD:8554872 IAGP RGD:13478560 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001263 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13607854 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001263 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13607868 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:150557076 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155643713 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001263 PMID:28492532|RGD:8554872 IAGP RGD:15119078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001263 PMID:28492532|RGD:8554872 IAGP RGD:401948532 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001263 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001265 MIM:201300|MIM:614213|PMID:21820098|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:713494113 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001270 RGD:8554872 IAGP RGD:714283203 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001271 PMID:21820098|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13802855 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001272 MIM:610357|MIM:614255|MIM:620607|PMID:22258533|PMID:25265257|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0001272 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001272 PMID:25209998|PMID:25741868|PMID:29589274|RGD:8554872 IAGP RGD:40887991 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001272 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001272 PMID:25265257|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26994895|PMID:28492532|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:32096284|PMID:32737135|RGD:8554872 IAGP RGD:9686560 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0001272 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686554 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001272 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686559 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0001272 PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088|RGD:8554872 IAGP RGD:12911526 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001272 PMID:25741868|RGD:8554872 IAGP RGD:9686558 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0001276 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001284 MIM:201300|PMID:16534117|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0001285 PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088|RGD:8554872 IAGP RGD:12911526 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001288 MIM:620607|PMID:21487076|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0001288 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001288 PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:8659863 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0001288 PMID:25741868|RGD:8554872 IAGP RGD:713392441 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001290 MIM:201300|MIM:614255|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250416 HPO RGD 1312759 KIF1A HP:0001290 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38463762 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001290 PMID:25209998|PMID:25741868|PMID:29589274|RGD:8554872 IAGP RGD:40887991 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001290 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001290 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001290 PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088|RGD:8554872 IAGP RGD:12911526 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001290 PMID:28492532|RGD:8554872 IAGP RGD:156233322 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001310 MIM:610357|MIM:620607|PMID:21487076|PMID:22258533|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0001324 MIM:620607|PMID:22258533|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0001324 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001324 PMID:21820098|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13802855 H kinesin family member 1A gene taxon:9606 20260616 ClinVar RGD 1312759 KIF1A HP:0001324 PMID:25265257|PMID:25975756|RGD:8554872 IAGP RGD:13531705 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001324 PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:8659863 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0001324 PMID:25741868|RGD:8554872 IAGP RGD:596942420 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001324 PMID:25741868|RGD:8554872 IAGP RGD:736707655 H kinesin family member 1A gene taxon:9606 20260707 ClinVar RGD 1312759 KIF1A HP:0001328 PMID:28492532|PMID:31628766|RGD:8554872 IAGP RGD:13530706 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001328 RGD:8554872 IAGP RGD:151662498 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001344 MIM:614255|PMID:25265257|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0001347 MIM:610357|MIM:614255|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250416 HPO RGD 1312759 KIF1A HP:0001347 PMID:25741868|PMID:31488895|RGD:8554872 IAGP RGD:243052538 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001347 PMID:25741868|RGD:8554872 IAGP RGD:736707655 H kinesin family member 1A gene taxon:9606 20260707 ClinVar RGD 1312759 KIF1A HP:0001371 MIM:614255|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0001371 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001371 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001396 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001508 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38463762 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001508 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001508 PMID:28492532|RGD:8554872 IAGP RGD:156233322 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001510 PMID:25209998|PMID:25741868|PMID:29589274|RGD:8554872 IAGP RGD:40887991 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001528 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001543 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001561 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001574 PMID:25741868|PMID:28492532|PMID:28834584|PMID:31455732|PMID:31488895|PMID:31813911|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33880452|PMID:34356170|PMID:34469436|PMID:34487232|PMID:38785164|RGD:8554872 IAGP RGD:12906398 H kinesin family member 1A gene taxon:9606 20260609 ClinVar RGD 1312759 KIF1A HP:0001607 PMID:28492532|RGD:8554872 IAGP RGD:15119078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001631 PMID:28492532|RGD:8554872 IAGP RGD:15119078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001636 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001674 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001760 PMID:25741868|PMID:31488895|RGD:8554872 IAGP RGD:243052538 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001761 PMID:25741868|PMID:31488895|RGD:8554872 IAGP RGD:243052538 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001761 PMID:25741868|RGD:8554872 IAGP RGD:714050209 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001762 MIM:614255|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0001762 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001765 PMID:25741868|PMID:31488895|RGD:8554872 IAGP RGD:243052538 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001770 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001773 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001810 ORPHA:970|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0001818 MIM:201300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0001836 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001840 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001842 MIM:201300|ORPHA:970|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250416 HPO RGD 1312759 KIF1A HP:0001849 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0001939 MIM:201300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0001999 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002011 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002019 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002020 MIM:201300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0002020 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002020 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002032 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002059 MIM:614255|PMID:25265257|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0002059 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002059 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686557 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002059 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002061 MIM:610357|MIM:620607|ORPHA:101010|PMID:21487076|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0002061 PMID:25741868|PMID:28492532|PMID:31488895|PMID:34782662|RGD:8554872 IAGP RGD:151865109 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002061 PMID:25741868|RGD:8554872 IAGP RGD:401798471 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002061 PMID:25741868|RGD:8554872 IAGP RGD:9686558 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0002061 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002064 MIM:610357|ORPHA:101010|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250416 HPO RGD 1312759 KIF1A HP:0002064 PMID:28492532|RGD:8554872 IAGP RGD:13821846 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002064 PMID:28492532|RGD:8554872 IAGP RGD:401948532 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002066 PMID:25741868|RGD:8554872 IAGP RGD:596942420 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002066 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002072 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002079 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002079 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002099 PMID:25741868|RGD:8554872 IAGP RGD:39456417 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002169 PMID:25741868|PMID:28492532|PMID:31488895|RGD:8554872 IAGP RGD:12741687 H kinesin family member 1A gene taxon:9606 20220420 ClinVar RGD 1312759 KIF1A HP:0002180 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:10404115 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002187 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002187 PMID:28492532|RGD:8554872 IAGP RGD:15119078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002194 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002194 PMID:25741868|RGD:8554872 IAGP RGD:150557076 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002194 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002251 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002257 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002273 PMID:25741868|RGD:8554872 IAGP RGD:596942420 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002305 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002311 PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:8659863 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0002313 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002313 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002313 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686554 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002313 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686555 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002313 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686559 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0002313 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686562 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002317 ORPHA:101010|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0002317 PMID:25741868|RGD:8554872 IAGP RGD:713494113 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002322 PMID:25741868|RGD:8554872 IAGP RGD:401798471 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002342 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002353 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002353 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686559 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0002353 PMID:28492532|RGD:8554872 IAGP RGD:156233322 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002359 PMID:25741868|RGD:8554872 IAGP RGD:155643713 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002362 PMID:25741868|RGD:8554872 IAGP RGD:713392441 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002376 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002380 PMID:25741868|RGD:8554872 IAGP RGD:736707655 H kinesin family member 1A gene taxon:9606 20260707 ClinVar RGD 1312759 KIF1A HP:0002395 MIM:620607|ORPHA:101010|PMID:21487076|PMID:22258533|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0002451 PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088|RGD:8554872 IAGP RGD:12911526 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002460 PMID:25741868|RGD:8554872 IAGP RGD:596942420 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002497 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150447715 H kinesin family member 1A gene taxon:9606 20220420 ClinVar RGD 1312759 KIF1A HP:0002500 PMID:28492532|RGD:8554872 IAGP RGD:15119078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002515 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002518 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002521 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002522 MIM:614213|PMID:21820098|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0002540 MIM:614255|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0002540 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002645 ORPHA:970|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0002650 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002650 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002650 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002652 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002659 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002661 MIM:201300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:156233322 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002786 PMID:28492532|RGD:8554872 IAGP RGD:15119078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002797 ORPHA:970|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0002815 ORPHA:970|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0002827 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002839 MIM:610357|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0002857 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002893 RGD:8554872 IAGP RGD:151662498 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002910 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002936 ORPHA:101010|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0002938 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0002944 PMID:25741868|RGD:8554872 IAGP RGD:39456655 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0003028 ORPHA:970|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0003103 ORPHA:970|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0003202 ORPHA:970|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0003202 PMID:21820098|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13802855 H kinesin family member 1A gene taxon:9606 20260616 ClinVar RGD 1312759 KIF1A HP:0003202 PMID:25741868|RGD:8554872 IAGP RGD:596942420 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0003202 PMID:25741868|RGD:8554872 IAGP RGD:736707655 H kinesin family member 1A gene taxon:9606 20260707 ClinVar RGD 1312759 KIF1A HP:0003272 ORPHA:970|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0003298 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0003304 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0003307 ORPHA:970|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0003327 PMID:25741868|RGD:8554872 IAGP RGD:401798471 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0003380 MIM:201300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0003448 MIM:201300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0003474 MIM:620607|ORPHA:101010|PMID:21487076|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0003477 MIM:610357|MIM:614255|PMID:25265257|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0003477 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0003477 PMID:25265257|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26994895|PMID:28492532|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:32096284|PMID:32737135|RGD:8554872 IAGP RGD:9686560 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0003477 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686554 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0003477 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686555 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0003477 PMID:25265257|PMID:25741868|RGD:8554872 IAGP RGD:9686557 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0003477 PMID:25741868|RGD:8554872 IAGP RGD:9686558 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0003487 MIM:610357|MIM:614255|MIM:620607|ORPHA:101010|PMID:21487076|PMID:22258533|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0003577 MIM:614213|PMID:21820098|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0003593 MIM:201300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0003621 MIM:614213|MIM:620607|PMID:21820098|PMID:22258533|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0003676 MIM:614213|MIM:614255|PMID:21820098|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0003677 MIM:201300|MIM:610357|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250416 HPO RGD 1312759 KIF1A HP:0003693 MIM:620607|ORPHA:101010|PMID:22258533|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0003693 PMID:25741868|PMID:31488895|RGD:8554872 IAGP RGD:243052538 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0003693 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0004322 MIM:614213|PMID:21820098|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0004322 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38463762 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0004322 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0004322 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0004322 PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088|RGD:8554872 IAGP RGD:12911526 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0004322 RGD:8554872 IAGP RGD:13532923 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0004324 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0004325 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0004349 ORPHA:970|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0004467 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0005306 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0005930 ORPHA:970|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0006101 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0006121 MIM:201300|MIM:614213|PMID:21820098|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0006855 MIM:614255|PMID:21376300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0006858 MIM:614213|PMID:21820098|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0006886 MIM:614213|MIM:620607|PMID:21820098|PMID:22258533|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0006970 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0007002 PMID:25741868|PMID:28492532|PMID:31488895|PMID:34782662|RGD:8554872 IAGP RGD:151865109 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0007018 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0007018 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0007018 PMID:28492532|RGD:8554872 IAGP RGD:401948532 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0007018 RGD:8554872 IAGP RGD:151662498 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0007018 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0007020 ORPHA:101010|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0007067 MIM:620607|PMID:22258533|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0007103 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0007141 MIM:620607|ORPHA:101010|PMID:22258533|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0007210 MIM:610357|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0007256 PMID:25741868|RGD:8554872 IAGP RGD:401798471 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0007328 MIM:620607|PMID:22258533|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0007340 MIM:610357|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0007354 PMID:21820098|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13802855 H kinesin family member 1A gene taxon:9606 20260616 ClinVar RGD 1312759 KIF1A HP:0007371 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0007373 PMID:21820098|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13802855 H kinesin family member 1A gene taxon:9606 20260616 ClinVar RGD 1312759 KIF1A HP:0007460 MIM:201300|MIM:614213|PMID:21820098|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0007663 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0008000 MIM:201300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0008391 ORPHA:970|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0008489 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0008872 MIM:201300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0008872 PMID:28492532|RGD:8554872 IAGP RGD:401948532 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0008936 MIM:614255|PMID:21376300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0008936 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0008947 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0008954 MIM:614213|PMID:21820098|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0008969 MIM:620607|ORPHA:101010|PMID:21487076|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0009027 MIM:614213|PMID:21820098|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0009046 MIM:620607|PMID:21487076|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0009053 MIM:614213|PMID:21820098|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0009053 PMID:25741868|PMID:31488895|RGD:8554872 IAGP RGD:243052538 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0009380 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0009771 MIM:201300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0009816 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0009824 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0009830 MIM:201300|MIM:614213|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250416 HPO RGD 1312759 KIF1A HP:0009830 PMID:21820098|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13802855 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0009830 PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:8659863 H kinesin family member 1A gene taxon:9606 20260602 ClinVar RGD 1312759 KIF1A HP:0010301 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0010461 PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|RGD:8554872 IAGP RGD:9686561 H kinesin family member 1A gene taxon:9606 20260707 ClinVar RGD 1312759 KIF1A HP:0010551 PMID:21820098|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13802855 H kinesin family member 1A gene taxon:9606 20260616 ClinVar RGD 1312759 KIF1A HP:0010665 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0010862 PMID:25741868|RGD:8554872 IAGP RGD:150557076 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0010862 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0011276 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0011324 PMID:28492532|RGD:8554872 IAGP RGD:15119078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0011443 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38463762 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0011443 PMID:25741868|RGD:8554872 IAGP RGD:713494113 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:156233322 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0011448 MIM:610357|MIM:620607|PMID:21487076|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0011462 MIM:620607|PMID:22258533|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0011463 MIM:620607|PMID:21487076|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0011675 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0011804 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38463762 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:11093107 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0011825 PMID:28492532|RGD:8554872 IAGP RGD:15119078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0011968 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38463762 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0011968 PMID:28492532|RGD:8554872 IAGP RGD:156233322 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0012103 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26887664 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0012126 RGD:8554872 IAGP RGD:713512791 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0012168 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0012210 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38463762 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0012407 MIM:620607|ORPHA:101010|PMID:21487076|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0012434 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0012444 PMID:25741868|RGD:8554872 IAGP RGD:150557076 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0012469 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0012469 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13607868 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0012531 PMID:25741868|RGD:8554872 IAGP RGD:713392441 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0012675 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0012712 PMID:28492532|RGD:8554872 IAGP RGD:15119078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0012745 PMID:28492532|RGD:8554872 IAGP RGD:15119078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0012762 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0025130 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0025406 MIM:620607|PMID:21487076|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20260209 HPO RGD 1312759 KIF1A HP:0030043 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0030048 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0030051 PMID:25741868|RGD:8554872 IAGP RGD:39456655 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0030051 PMID:25741868|RGD:8554872 IAGP RGD:713392441 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0030082 PMID:25741868|RGD:8554872 IAGP RGD:713494113 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0031624 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0031717 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0032316 PMID:28492532|RGD:8554872 IAGP RGD:156447813 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0033127 PMID:25741868|PMID:28492532|PMID:28834584|PMID:31455732|PMID:31488895|PMID:31813911|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33880452|PMID:34356170|PMID:34469436|PMID:34487232|PMID:38785164|RGD:8554872 IAGP RGD:12906398 H kinesin family member 1A gene taxon:9606 20260609 ClinVar RGD 1312759 KIF1A HP:0033127 PMID:25741868|RGD:8554872 IAGP RGD:408394052 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0033748 MIM:614213|PMID:21820098|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0033748 PMID:25741868|RGD:8554872 IAGP RGD:713392441 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0034353 MIM:614255|PMID:21376300|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20250912 HPO RGD 1312759 KIF1A HP:0040064 PMID:25741868|PMID:28492532|PMID:28834584|PMID:31455732|PMID:31488895|PMID:31813911|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33880452|PMID:34356170|PMID:34469436|PMID:34487232|PMID:38785164|RGD:8554872 IAGP RGD:12906398 H kinesin family member 1A gene taxon:9606 20260609 ClinVar RGD 1312759 KIF1A HP:0100021 PMID:25741868|PMID:28492532|PMID:31455732|PMID:31488895|PMID:32737135|RGD:8554872 IAGP RGD:38476440 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100022 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26887664 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100022 PMID:25741868|RGD:8554872 IAGP RGD:401798471 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100033 RGD:8554872 IAGP RGD:405692192 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100258 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100259 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100275 ORPHA:101010|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0100490 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735|RGD:8554872 IAGP RGD:14716939 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100526 RGD:8554872 IAGP RGD:150469396 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100526 RGD:8554872 IAGP RGD:713750078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100526 RGD:8554872 IAGP RGD:713750115 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100526 RGD:8554872 IAGP RGD:713750191 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100543 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38463762 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100543 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100543 PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088|RGD:8554872 IAGP RGD:12911526 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100543 PMID:25741868|RGD:8554872 IAGP RGD:150557161 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100543 PMID:28492532|RGD:8554872 IAGP RGD:13821846 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100543 PMID:28492532|RGD:8554872 IAGP RGD:156233322 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100615 RGD:8554872 IAGP RGD:714113905 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100660 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26887664 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100704 MIM:614255|RGD:8699517 IAGP H kinesin family member 1A gene taxon:9606 20230821 HPO RGD 1312759 KIF1A HP:0100704 PMID:21376300|PMID:25253658|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|RGD:8554872 IAGP RGD:8568156 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100704 PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|RGD:8554872 IAGP RGD:10406267 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0100704 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13607868 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0200055 PMID:28492532|RGD:8554872 IAGP RGD:15119078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312759 KIF1A HP:0200141 PMID:28492532|RGD:8554872 IAGP RGD:15119078 H kinesin family member 1A gene taxon:9606 20260519 ClinVar RGD 1312761 SEC61B HP:0012126 RGD:8554872 IAGP RGD:713680373 H SEC61 translocon subunit beta gene taxon:9606 20260519 ClinVar RGD 1312761 SEC61B HP:0012126 RGD:8554872 IAGP RGD:713680403 H SEC61 translocon subunit beta gene taxon:9606 20260519 ClinVar RGD 1312761 SEC61B HP:0100242 RGD:8554872 IAGP RGD:713680389 H SEC61 translocon subunit beta gene taxon:9606 20260519 ClinVar RGD 1312761 SEC61B HP:0100522 RGD:8554872 IAGP RGD:713680389 H SEC61 translocon subunit beta gene taxon:9606 20260519 ClinVar RGD 1312763 DDX21 HP:0002665 RGD:8554872 IAGP RGD:713783264 H DExD-box helicase 21 gene taxon:9606 20260519 ClinVar RGD 1312763 DDX21 HP:0002861 RGD:8554872 IAGP RGD:713361789 H DExD-box helicase 21 gene taxon:9606 20260519 ClinVar RGD 1312763 DDX21 HP:0002861 RGD:8554872 IAGP RGD:713361809 H DExD-box helicase 21 gene taxon:9606 20260519 ClinVar RGD 1312763 DDX21 HP:0004808 RGD:8554872 IAGP RGD:713789705 H DExD-box helicase 21 gene taxon:9606 20260519 ClinVar RGD 1312763 DDX21 HP:0012126 RGD:8554872 IAGP RGD:713745653 H DExD-box helicase 21 gene taxon:9606 20260519 ClinVar RGD 1312763 DDX21 HP:0030359 RGD:8554872 IAGP RGD:713361844 H DExD-box helicase 21 gene taxon:9606 20260519 ClinVar RGD 1312763 DDX21 HP:0100526 RGD:8554872 IAGP RGD:713361756 H DExD-box helicase 21 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000007 MIM:248190|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0000010 MIM:248190|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0000010 PMID:22422540|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151349202 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000023 ORPHA:2196|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250814 HPO RGD 1312766 CLDN19 HP:0000077 PMID:25741868|RGD:8554872 IAGP RGD:405866730 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000093 PMID:25741868|RGD:8554872 IAGP RGD:152999558 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000103 RGD:8554872 IAGP RGD:13796235 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000107 RGD:8554872 IAGP RGD:405717838 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000112 ORPHA:2196|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250814 HPO RGD 1312766 CLDN19 HP:0000121 MIM:248190|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0000121 PMID:22422540|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151349202 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000121 PMID:25741868|PMID:27530400|PMID:28492532|RGD:8554872 IAGP RGD:13706593 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000121 PMID:25741868|PMID:28492532|PMID:28893421|PMID:33025205|PMID:34805638|RGD:8554872 IAGP RGD:13704979 H claudin 19 gene taxon:9606 20240403 ClinVar RGD 1312766 CLDN19 HP:0000121 PMID:25741868|RGD:8554872 IAGP RGD:151348878 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000121 PMID:25741868|RGD:8554872 IAGP RGD:152999558 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000121 PMID:25741868|RGD:8554872 IAGP RGD:401855516 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000121 RGD:8554872 IAGP RGD:329846767 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000121 RGD:8554872 IAGP RGD:405717838 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000483 MIM:248190|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250814 HPO RGD 1312766 CLDN19 HP:0000486 MIM:248190|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250814 HPO RGD 1312766 CLDN19 HP:0000486 RGD:8554872 IAGP RGD:329846767 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000510 MIM:248190|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250814 HPO RGD 1312766 CLDN19 HP:0000545 MIM:248190|ORPHA:2196|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0000545 RGD:8554872 IAGP RGD:329846767 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000567 ORPHA:2196|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250814 HPO RGD 1312766 CLDN19 HP:0000639 MIM:248190|ORPHA:2196|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0000639 PMID:25741868|RGD:8554872 IAGP RGD:598231237 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0000705 MIM:248190|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250814 HPO RGD 1312766 CLDN19 HP:0000787 MIM:248190|ORPHA:2196|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0000790 ORPHA:2196|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250814 HPO RGD 1312766 CLDN19 HP:0001116 MIM:248190|ORPHA:2196|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0001402 RGD:8554872 IAGP RGD:713739574 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0001508 PMID:22422540|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151349202 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0001537 ORPHA:2196|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250814 HPO RGD 1312766 CLDN19 HP:0001959 RGD:8554872 IAGP RGD:13796235 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0002149 PMID:22422540|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151349202 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0002150 MIM:248190|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0002150 PMID:22422540|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151349202 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0002150 PMID:25741868|RGD:8554872 IAGP RGD:152999558 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0002150 PMID:25741868|RGD:8554872 IAGP RGD:714108333 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0002150 RGD:8554872 IAGP RGD:13796235 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0002150 RGD:8554872 IAGP RGD:329846767 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0002901 PMID:25741868|RGD:8554872 IAGP RGD:401855516 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0002917 MIM:248190|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0002917 PMID:22422540|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151349202 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0002917 PMID:25741868|RGD:8554872 IAGP RGD:714108333 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0002917 RGD:8554872 IAGP RGD:13796235 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0002917 RGD:8554872 IAGP RGD:329846767 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0003159 PMID:25741868|RGD:8554872 IAGP RGD:401855516 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0003593 MIM:248190|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0003621 MIM:248190|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0003774 MIM:248190|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0004363 MIM:248190|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0005567 MIM:248190|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0006770 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11580537 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0007401 PMID:25741868|PMID:27530400|PMID:28492532|RGD:8554872 IAGP RGD:13706593 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0007401 PMID:25741868|RGD:8554872 IAGP RGD:151348878 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0007703 ORPHA:2196|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250814 HPO RGD 1312766 CLDN19 HP:0007754 PMID:25741868|RGD:8554872 IAGP RGD:714108333 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0011003 RGD:8554872 IAGP RGD:13796235 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0011463 MIM:248190|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0012210 RGD:8554872 IAGP RGD:405717838 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0012405 RGD:8554872 IAGP RGD:13796235 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0012408 PMID:22422540|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151349202 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0012408 PMID:25741868|RGD:8554872 IAGP RGD:714108333 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0012408 RGD:8554872 IAGP RGD:13796235 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0012608 MIM:248190|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0012608 PMID:22422540|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151349202 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0012622 MIM:248190|PMID:17033971|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250912 HPO RGD 1312766 CLDN19 HP:0012622 PMID:22422540|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151349202 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0012637 MIM:248190|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250814 HPO RGD 1312766 CLDN19 HP:0100242 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11580537 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0100526 RGD:8554872 IAGP RGD:713751257 H claudin 19 gene taxon:9606 20260519 ClinVar RGD 1312766 CLDN19 HP:0100530 ORPHA:2196|RGD:8699517 IAGP H claudin 19 gene taxon:9606 20250814 HPO RGD 1312769 CCNG2 HP:0001402 RGD:8554872 IAGP RGD:713777054 H cyclin G2 gene taxon:9606 20260707 ClinVar RGD 1312769 CCNG2 HP:0002861 RGD:8554872 IAGP RGD:714195400 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0002861 RGD:8554872 IAGP RGD:714195405 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0003003 RGD:8554872 IAGP RGD:714117537 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0004808 RGD:8554872 IAGP RGD:713454172 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0006725 RGD:8554872 IAGP RGD:714195365 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0006725 RGD:8554872 IAGP RGD:714195449 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0006770 RGD:8554872 IAGP RGD:713777054 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0006770 RGD:8554872 IAGP RGD:714117525 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0006770 RGD:8554872 IAGP RGD:714117537 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0006770 RGD:8554872 IAGP RGD:714195419 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0006770 RGD:8554872 IAGP RGD:714195428 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0012126 RGD:8554872 IAGP RGD:713777054 H cyclin G2 gene taxon:9606 20260707 ClinVar RGD 1312769 CCNG2 HP:0030153 RGD:8554872 IAGP RGD:713454172 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0100242 RGD:8554872 IAGP RGD:713450121 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0100242 RGD:8554872 IAGP RGD:713777054 H cyclin G2 gene taxon:9606 20260707 ClinVar RGD 1312769 CCNG2 HP:0100242 RGD:8554872 IAGP RGD:714195387 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0100522 RGD:8554872 IAGP RGD:713450121 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0100522 RGD:8554872 IAGP RGD:713454172 H cyclin G2 gene taxon:9606 20260519 ClinVar RGD 1312769 CCNG2 HP:0100526 RGD:8554872 IAGP RGD:713777054 H cyclin G2 gene taxon:9606 20260707 ClinVar RGD 1312771 PKNOX1 HP:0002861 RGD:8554872 IAGP RGD:713868923 H PBX/knotted 1 homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1312771 PKNOX1 HP:0004808 RGD:8554872 IAGP RGD:713963897 H PBX/knotted 1 homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1312771 PKNOX1 HP:0004808 RGD:8554872 IAGP RGD:713967665 H PBX/knotted 1 homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1312771 PKNOX1 HP:0012126 RGD:8554872 IAGP RGD:713784576 H PBX/knotted 1 homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1312771 PKNOX1 HP:0012126 RGD:8554872 IAGP RGD:713784587 H PBX/knotted 1 homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1312771 PKNOX1 HP:0100242 RGD:8554872 IAGP RGD:713784596 H PBX/knotted 1 homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1312771 PKNOX1 HP:0100522 RGD:8554872 IAGP RGD:713868992 H PBX/knotted 1 homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1312771 PKNOX1 HP:0100526 RGD:8554872 IAGP RGD:713868977 H PBX/knotted 1 homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1312771 PKNOX1 HP:0100526 RGD:8554872 IAGP RGD:713869032 H PBX/knotted 1 homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0001402 RGD:8554872 IAGP RGD:713351165 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0001402 RGD:8554872 IAGP RGD:714046794 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0002861 RGD:8554872 IAGP RGD:714046794 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0003003 RGD:8554872 IAGP RGD:714046794 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0004808 RGD:8554872 IAGP RGD:714046794 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0006770 RGD:8554872 IAGP RGD:713683386 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0007716 RGD:8554872 IAGP RGD:714046794 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0011797 RGD:8554872 IAGP RGD:714104312 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0012126 RGD:8554872 IAGP RGD:713623155 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0012126 RGD:8554872 IAGP RGD:713623165 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0012126 RGD:8554872 IAGP RGD:714046794 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0030153 RGD:8554872 IAGP RGD:714046794 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0100242 RGD:8554872 IAGP RGD:713623165 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0100242 RGD:8554872 IAGP RGD:714046794 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0100522 RGD:8554872 IAGP RGD:713623165 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0100522 RGD:8554872 IAGP RGD:714046794 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0100526 RGD:8554872 IAGP RGD:713683360 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0100526 RGD:8554872 IAGP RGD:713683542 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312773 SFSWAP HP:0100526 RGD:8554872 IAGP RGD:714046794 H splicing factor SWAP gene taxon:9606 20260519 ClinVar RGD 1312775 LAMTOR5 HP:0004808 RGD:8554872 IAGP RGD:713988377 H late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene taxon:9606 20260519 ClinVar RGD 1312779 SUCLG2 HP:0000692 PMID:28492532|RGD:8554872 IAGP RGD:14746822 H succinate-CoA ligase GDP-forming subunit beta gene taxon:9606 20260519 ClinVar RGD 1312779 SUCLG2 HP:0002861 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:597887725 H succinate-CoA ligase GDP-forming subunit beta gene taxon:9606 20260519 ClinVar RGD 1312779 SUCLG2 HP:0002861 RGD:8554872 IAGP RGD:713391789 H succinate-CoA ligase GDP-forming subunit beta gene taxon:9606 20260519 ClinVar RGD 1312779 SUCLG2 HP:0006770 RGD:8554872 IAGP RGD:713391823 H succinate-CoA ligase GDP-forming subunit beta gene taxon:9606 20260519 ClinVar RGD 1312779 SUCLG2 HP:0100242 RGD:8554872 IAGP RGD:713391857 H succinate-CoA ligase GDP-forming subunit beta gene taxon:9606 20260519 ClinVar RGD 1312779 SUCLG2 HP:0100242 RGD:8554872 IAGP RGD:713391909 H succinate-CoA ligase GDP-forming subunit beta gene taxon:9606 20260519 ClinVar RGD 1312781 DNAJC9 HP:0006725 RGD:8554872 IAGP RGD:713370513 H DnaJ heat shock protein family (Hsp40) member C9 gene taxon:9606 20260519 ClinVar RGD 1312790 C10orf88 HP:0001402 RGD:8554872 IAGP RGD:714089817 H chromosome 10 open reading frame 88 gene taxon:9606 20260519 ClinVar RGD 1312790 C10orf88 HP:0002861 RGD:8554872 IAGP RGD:713365671 H chromosome 10 open reading frame 88 gene taxon:9606 20260519 ClinVar RGD 1312790 C10orf88 HP:0006770 RGD:8554872 IAGP RGD:713365709 H chromosome 10 open reading frame 88 gene taxon:9606 20260519 ClinVar RGD 1312792 PABPC4 HP:0006770 RGD:8554872 IAGP RGD:713388018 H poly(A) binding protein cytoplasmic 4 gene taxon:9606 20260519 ClinVar RGD 1312792 PABPC4 HP:0006770 RGD:8554872 IAGP RGD:714186934 H poly(A) binding protein cytoplasmic 4 gene taxon:9606 20260519 ClinVar RGD 1312792 PABPC4 HP:0030153 RGD:8554872 IAGP RGD:713387386 H poly(A) binding protein cytoplasmic 4 gene taxon:9606 20260519 ClinVar RGD 1312792 PABPC4 HP:0030153 RGD:8554872 IAGP RGD:714186934 H poly(A) binding protein cytoplasmic 4 gene taxon:9606 20260519 ClinVar RGD 1312792 PABPC4 HP:0100242 RGD:8554872 IAGP RGD:714186934 H poly(A) binding protein cytoplasmic 4 gene taxon:9606 20260519 ClinVar RGD 1312792 PABPC4 HP:0100522 RGD:8554872 IAGP RGD:713388294 H poly(A) binding protein cytoplasmic 4 gene taxon:9606 20260519 ClinVar RGD 1312792 PABPC4 HP:0100522 RGD:8554872 IAGP RGD:714186934 H poly(A) binding protein cytoplasmic 4 gene taxon:9606 20260519 ClinVar RGD 1312792 PABPC4 HP:0100615 RGD:8554872 IAGP RGD:714186934 H poly(A) binding protein cytoplasmic 4 gene taxon:9606 20260519 ClinVar RGD 1312797 WNT9A HP:0006770 RGD:8554872 IAGP RGD:713428051 H Wnt family member 9A gene taxon:9606 20260519 ClinVar RGD 1312797 WNT9A HP:0030153 RGD:8554872 IAGP RGD:713427401 H Wnt family member 9A gene taxon:9606 20260519 ClinVar RGD 1312797 WNT9A HP:0100242 RGD:8554872 IAGP RGD:713427401 H Wnt family member 9A gene taxon:9606 20260519 ClinVar RGD 1312797 WNT9A HP:0100522 RGD:8554872 IAGP RGD:714028949 H Wnt family member 9A gene taxon:9606 20260519 ClinVar RGD 1312797 WNT9A HP:0100522 RGD:8554872 IAGP RGD:714102079 H Wnt family member 9A gene taxon:9606 20260519 ClinVar RGD 1312799 CERK HP:0002861 RGD:8554872 IAGP RGD:713765202 H ceramide kinase gene taxon:9606 20260519 ClinVar RGD 1312799 CERK HP:0002861 RGD:8554872 IAGP RGD:713765281 H ceramide kinase gene taxon:9606 20260519 ClinVar RGD 1312799 CERK HP:0002861 RGD:8554872 IAGP RGD:714197999 H ceramide kinase gene taxon:9606 20260519 ClinVar RGD 1312799 CERK HP:0004808 RGD:8554872 IAGP RGD:714195849 H ceramide kinase gene taxon:9606 20260519 ClinVar RGD 1312799 CERK HP:0004808 RGD:8554872 IAGP RGD:714197991 H ceramide kinase gene taxon:9606 20260519 ClinVar RGD 1312799 CERK HP:0030153 RGD:8554872 IAGP RGD:713765045 H ceramide kinase gene taxon:9606 20260519 ClinVar RGD 1312799 CERK HP:0030153 RGD:8554872 IAGP RGD:713765168 H ceramide kinase gene taxon:9606 20260519 ClinVar RGD 1312799 CERK HP:0030153 RGD:8554872 IAGP RGD:714197991 H ceramide kinase gene taxon:9606 20260519 ClinVar RGD 1312799 CERK HP:0030359 RGD:8554872 IAGP RGD:713765185 H ceramide kinase gene taxon:9606 20260519 ClinVar RGD 1312799 CERK HP:0100242 RGD:8554872 IAGP RGD:713765030 H ceramide kinase gene taxon:9606 20260519 ClinVar RGD 1312799 CERK HP:0100522 RGD:8554872 IAGP RGD:714197991 H ceramide kinase gene taxon:9606 20260519 ClinVar RGD 1312799 CERK HP:0100526 RGD:8554872 IAGP RGD:713765297 H ceramide kinase gene taxon:9606 20260519 ClinVar RGD 1312803 PPFIA2 HP:0001402 RGD:8554872 IAGP RGD:713352276 H PPFI scaffold protein A2 gene taxon:9606 20260519 ClinVar RGD 1312803 PPFIA2 HP:0002861 RGD:8554872 IAGP RGD:714078085 H PPFI scaffold protein A2 gene taxon:9606 20260519 ClinVar RGD 1312803 PPFIA2 HP:0004808 RGD:8554872 IAGP RGD:713658844 H PPFI scaffold protein A2 gene taxon:9606 20260519 ClinVar RGD 1312803 PPFIA2 HP:0012126 RGD:8554872 IAGP RGD:713798316 H PPFI scaffold protein A2 gene taxon:9606 20260519 ClinVar RGD 1312803 PPFIA2 HP:0012126 RGD:8554872 IAGP RGD:713798333 H PPFI scaffold protein A2 gene taxon:9606 20260519 ClinVar RGD 1312803 PPFIA2 HP:0030153 RGD:8554872 IAGP RGD:714078195 H PPFI scaffold protein A2 gene taxon:9606 20260519 ClinVar RGD 1312803 PPFIA2 HP:0100242 RGD:8554872 IAGP RGD:714078115 H PPFI scaffold protein A2 gene taxon:9606 20260519 ClinVar RGD 1312803 PPFIA2 HP:0100522 RGD:8554872 IAGP RGD:714078213 H PPFI scaffold protein A2 gene taxon:9606 20260519 ClinVar RGD 1312810 ZNF575 HP:0004808 RGD:8554872 IAGP RGD:713822664 H zinc finger protein 575 gene taxon:9606 20260519 ClinVar RGD 1312811 TNKS2 HP:0001402 RGD:8554872 IAGP RGD:714090913 H tankyrase 2 gene taxon:9606 20260519 ClinVar RGD 1312811 TNKS2 HP:0001402 RGD:8554872 IAGP RGD:714090922 H tankyrase 2 gene taxon:9606 20260519 ClinVar RGD 1312811 TNKS2 HP:0002861 RGD:8554872 IAGP RGD:713386634 H tankyrase 2 gene taxon:9606 20260519 ClinVar RGD 1312811 TNKS2 HP:0004808 RGD:8554872 IAGP RGD:713726915 H tankyrase 2 gene taxon:9606 20260519 ClinVar RGD 1312811 TNKS2 HP:0004808 RGD:8554872 IAGP RGD:713787539 H tankyrase 2 gene taxon:9606 20260519 ClinVar RGD 1312811 TNKS2 HP:0012126 RGD:8554872 IAGP RGD:714012027 H tankyrase 2 gene taxon:9606 20260519 ClinVar RGD 1312811 TNKS2 HP:0030153 RGD:8554872 IAGP RGD:713787539 H tankyrase 2 gene taxon:9606 20260519 ClinVar RGD 1312811 TNKS2 HP:0100522 RGD:8554872 IAGP RGD:713386572 H tankyrase 2 gene taxon:9606 20260519 ClinVar RGD 1312811 TNKS2 HP:0100526 RGD:8554872 IAGP RGD:713386756 H tankyrase 2 gene taxon:9606 20260519 ClinVar RGD 1312811 TNKS2 HP:0100526 RGD:8554872 IAGP RGD:713726889 H tankyrase 2 gene taxon:9606 20260519 ClinVar RGD 1312811 TNKS2 HP:0100526 RGD:8554872 IAGP RGD:713780851 H tankyrase 2 gene taxon:9606 20260707 ClinVar RGD 1312812 SFMBT2 HP:0012126 RGD:8554872 IAGP RGD:713746640 H Scm like with four mbt domains 2 gene taxon:9606 20260519 ClinVar RGD 1312812 SFMBT2 HP:0100242 RGD:8554872 IAGP RGD:713366490 H Scm like with four mbt domains 2 gene taxon:9606 20260519 ClinVar RGD 1312812 SFMBT2 HP:0100526 RGD:8554872 IAGP RGD:713364853 H Scm like with four mbt domains 2 gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0000023 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0000179 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0000232 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0000248 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0000303 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0000369 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0000391 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0000467 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0000490 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0000496 PMID:25741868|PMID:37433783|RGD:8554872 IAGP RGD:713511406 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0000577 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0000657 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0000687 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0000767 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0000964 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0001001 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0001043 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0001182 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0001252 PMID:25741868|PMID:37433783|RGD:8554872 IAGP RGD:713511406 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0001288 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0001344 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0001773 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0001945 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0001998 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:25319111 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0002061 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0002194 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0002217 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0002307 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0002421 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0002474 PMID:25741868|PMID:37433783|RGD:8554872 IAGP RGD:713511406 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0002540 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0002599 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0002789 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0003265 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0003557 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0004808 RGD:8554872 IAGP RGD:713679907 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0004808 RGD:8554872 IAGP RGD:713679923 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0005469 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0005599 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0006725 RGD:8554872 IAGP RGD:714181988 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0006986 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0007394 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0007513 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0010553 PMID:25741868|PMID:37433783|RGD:8554872 IAGP RGD:713511406 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0010845 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0010862 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0011251 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0011272 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0011410 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0011797 RGD:8554872 IAGP RGD:713700213 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0011797 RGD:8554872 IAGP RGD:713707537 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0012126 RGD:8554872 IAGP RGD:713679907 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0012126 RGD:8554872 IAGP RGD:714140813 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0012126 RGD:8554872 IAGP RGD:714140842 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0012126 RGD:8554872 IAGP RGD:714140853 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0012646 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0030147 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0032069 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0100242 RGD:8554872 IAGP RGD:714181962 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0100242 RGD:8554872 IAGP RGD:714181965 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0100327 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0100526 RGD:8554872 IAGP RGD:713679907 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0100526 RGD:8554872 IAGP RGD:714140804 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260519 ClinVar RGD 1312813 EZH1 HP:0100660 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0100789 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312813 EZH1 HP:0200055 PMID:25741868|RGD:8554872 IAGP RGD:39456612 H enhancer of zeste 1 polycomb repressive complex 2 subunit gene taxon:9606 20260602 ClinVar RGD 1312815 IL27RA HP:0000007 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0001399 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0001402 RGD:8554872 IAGP RGD:713362412 H interleukin 27 receptor subunit alpha gene taxon:9606 20260519 ClinVar RGD 1312815 IL27RA HP:0001402 RGD:8554872 IAGP RGD:713362430 H interleukin 27 receptor subunit alpha gene taxon:9606 20260519 ClinVar RGD 1312815 IL27RA HP:0001433 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0001639 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0001888 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0001903 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0001945 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0001974 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0002788 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0003593 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0004808 RGD:8554872 IAGP RGD:714192400 H interleukin 27 receptor subunit alpha gene taxon:9606 20260519 ClinVar RGD 1312815 IL27RA HP:0005404 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0011462 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0011463 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0011873 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0011950 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0012115 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0012126 RGD:8554872 IAGP RGD:714270803 H interleukin 27 receptor subunit alpha gene taxon:9606 20260519 ClinVar RGD 1312815 IL27RA HP:0012126 RGD:8554872 IAGP RGD:714270807 H interleukin 27 receptor subunit alpha gene taxon:9606 20260519 ClinVar RGD 1312815 IL27RA HP:0020072 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0025435 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0025624 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0030374 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0030948 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0031691 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0031956 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0031964 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0033050 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0033479 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0100522 RGD:8554872 IAGP RGD:713362430 H interleukin 27 receptor subunit alpha gene taxon:9606 20260519 ClinVar RGD 1312815 IL27RA HP:0100522 RGD:8554872 IAGP RGD:713884165 H interleukin 27 receptor subunit alpha gene taxon:9606 20260519 ClinVar RGD 1312815 IL27RA HP:0100522 RGD:8554872 IAGP RGD:713884195 H interleukin 27 receptor subunit alpha gene taxon:9606 20260519 ClinVar RGD 1312815 IL27RA HP:0100827 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0410295 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:0410390 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312815 IL27RA HP:6001425 MIM:621405|PMID:38509369|RGD:8699517 IAGP H interleukin 27 receptor subunit alpha gene taxon:9606 20260423 HPO RGD 1312817 ACBD6 HP:0000007 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000020 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000028 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000047 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000083 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000175 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000219 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000232 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000238 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000276 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000280 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000286 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000303 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000322 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000445 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000486 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000490 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000505 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000506 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000540 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000582 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000639 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000662 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000718 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000729 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000750 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000819 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000822 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0000969 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001182 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001249 PMID:25741868|PMID:36457943|RGD:8554872 IAGP RGD:151351539 H acyl-CoA binding domain containing 6 gene taxon:9606 20260707 ClinVar RGD 1312817 ACBD6 HP:0001250 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001251 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001252 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001257 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001263 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001272 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001274 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001278 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001300 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001320 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001332 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001337 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001338 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001344 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001382 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001394 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001402 RGD:8554872 IAGP RGD:713762864 H acyl-CoA binding domain containing 6 gene taxon:9606 20260519 ClinVar RGD 1312817 ACBD6 HP:0001402 RGD:8554872 IAGP RGD:713762881 H acyl-CoA binding domain containing 6 gene taxon:9606 20260519 ClinVar RGD 1312817 ACBD6 HP:0001402 RGD:8554872 IAGP RGD:713762900 H acyl-CoA binding domain containing 6 gene taxon:9606 20260519 ClinVar RGD 1312817 ACBD6 HP:0001513 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001762 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0001876 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0002061 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0002069 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0002079 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0002119 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0002123 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0002172 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0002360 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20260209 HPO RGD 1312817 ACBD6 HP:0002553 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0002591 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0002650 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0002665 RGD:8554872 IAGP RGD:713480023 H acyl-CoA binding domain containing 6 gene taxon:9606 20260519 ClinVar RGD 1312817 ACBD6 HP:0002684 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0002788 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0002808 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0002870 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0005280 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0006770 RGD:8554872 IAGP RGD:713479010 H acyl-CoA binding domain containing 6 gene taxon:9606 20260519 ClinVar RGD 1312817 ACBD6 HP:0006986 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0007068 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0007359 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0010819 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0011003 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0012126 RGD:8554872 IAGP RGD:713568284 H acyl-CoA binding domain containing 6 gene taxon:9606 20260519 ClinVar RGD 1312817 ACBD6 HP:0012444 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0012469 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0025161 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0025331 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0025403 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0030048 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0030302 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0031936 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0100033 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0100526 RGD:8554872 IAGP RGD:713479981 H acyl-CoA binding domain containing 6 gene taxon:9606 20260519 ClinVar RGD 1312817 ACBD6 HP:0100716 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312817 ACBD6 HP:0200055 MIM:620785|PMID:37951597|RGD:8699517 IAGP H acyl-CoA binding domain containing 6 gene taxon:9606 20250912 HPO RGD 1312819 VTA1 HP:0001402 RGD:8554872 IAGP RGD:714079012 H vesicle trafficking 1 gene taxon:9606 20260519 ClinVar RGD 1312819 VTA1 HP:0002665 RGD:8554872 IAGP RGD:713710869 H vesicle trafficking 1 gene taxon:9606 20260519 ClinVar RGD 1312819 VTA1 HP:0004808 RGD:8554872 IAGP RGD:713435980 H vesicle trafficking 1 gene taxon:9606 20260519 ClinVar RGD 1312819 VTA1 HP:0100242 RGD:8554872 IAGP RGD:713710884 H vesicle trafficking 1 gene taxon:9606 20260519 ClinVar RGD 1312819 VTA1 HP:0100242 RGD:8554872 IAGP RGD:713710929 H vesicle trafficking 1 gene taxon:9606 20260519 ClinVar RGD 1312819 VTA1 HP:0100522 RGD:8554872 IAGP RGD:713442983 H vesicle trafficking 1 gene taxon:9606 20260519 ClinVar RGD 1312819 VTA1 HP:0100526 RGD:8554872 IAGP RGD:713710942 H vesicle trafficking 1 gene taxon:9606 20260519 ClinVar RGD 1312821 TMPRSS4 HP:0006770 RGD:8554872 IAGP RGD:714216238 H transmembrane serine protease 4 gene taxon:9606 20260519 ClinVar RGD 1312821 TMPRSS4 HP:0006770 RGD:8554872 IAGP RGD:714216246 H transmembrane serine protease 4 gene taxon:9606 20260519 ClinVar RGD 1312821 TMPRSS4 HP:0006770 RGD:8554872 IAGP RGD:714216273 H transmembrane serine protease 4 gene taxon:9606 20260519 ClinVar RGD 1312821 TMPRSS4 HP:0006770 RGD:8554872 IAGP RGD:714216306 H transmembrane serine protease 4 gene taxon:9606 20260519 ClinVar RGD 1312821 TMPRSS4 HP:0006770 RGD:8554872 IAGP RGD:714216364 H transmembrane serine protease 4 gene taxon:9606 20260519 ClinVar RGD 1312821 TMPRSS4 HP:0012126 RGD:8554872 IAGP RGD:714014946 H transmembrane serine protease 4 gene taxon:9606 20260519 ClinVar RGD 1312821 TMPRSS4 HP:0100526 RGD:8554872 IAGP RGD:714216282 H transmembrane serine protease 4 gene taxon:9606 20260519 ClinVar RGD 1312821 TMPRSS4 HP:0100526 RGD:8554872 IAGP RGD:714216371 H transmembrane serine protease 4 gene taxon:9606 20260519 ClinVar RGD 1312823 NET1 HP:0001252 RGD:8554872 IAGP RGD:11051307 H neuroepithelial cell transforming 1 gene taxon:9606 20260519 ClinVar RGD 1312823 NET1 HP:0001657 RGD:8554872 IAGP RGD:10398597 H neuroepithelial cell transforming 1 gene taxon:9606 20260602 ClinVar RGD 1312823 NET1 HP:0002888 RGD:8554872 IAGP RGD:13506427 H neuroepithelial cell transforming 1 gene taxon:9606 20210323 ClinVar RGD 1312823 NET1 HP:0004808 RGD:8554872 IAGP RGD:713789323 H neuroepithelial cell transforming 1 gene taxon:9606 20260519 ClinVar RGD 1312823 NET1 HP:0100242 RGD:8554872 IAGP RGD:713409983 H neuroepithelial cell transforming 1 gene taxon:9606 20260519 ClinVar RGD 1312823 NET1 HP:0100526 RGD:8554872 IAGP RGD:713409941 H neuroepithelial cell transforming 1 gene taxon:9606 20260519 ClinVar RGD 1312823 NET1 HP:0100526 RGD:8554872 IAGP RGD:713410203 H neuroepithelial cell transforming 1 gene taxon:9606 20260519 ClinVar RGD 1312825 MMAA HP:0000007 MIM:251100|PMID:12438653|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20250912 HPO RGD 1312825 MMAA HP:0000252 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13606438 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:736709469 H metabolism of cobalamin associated A gene taxon:9606 20260707 ClinVar RGD 1312825 MMAA HP:0000518 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13606438 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0000952 PMID:25741868|RGD:8554872 IAGP RGD:736709469 H metabolism of cobalamin associated A gene taxon:9606 20260707 ClinVar RGD 1312825 MMAA HP:0001250 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:736709469 H metabolism of cobalamin associated A gene taxon:9606 20260707 ClinVar RGD 1312825 MMAA HP:0001252 MIM:251100|PMID:33029243|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20250912 HPO RGD 1312825 MMAA HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:736709469 H metabolism of cobalamin associated A gene taxon:9606 20260707 ClinVar RGD 1312825 MMAA HP:0001254 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0001259 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0001263 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0001290 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0001337 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0001348 MIM:251100|PMID:33029243|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20250912 HPO RGD 1312825 MMAA HP:0001508 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0001873 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0001875 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0001876 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0001903 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0001942 MIM:251100|PMID:33029243|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20250912 HPO RGD 1312825 MMAA HP:0001944 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0001946 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0001987 MIM:251100|PMID:33029243|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20250912 HPO RGD 1312825 MMAA HP:0001987 PMID:25741868|RGD:8554872 IAGP RGD:736709469 H metabolism of cobalamin associated A gene taxon:9606 20260707 ClinVar RGD 1312825 MMAA HP:0001998 PMID:25741868|RGD:8554872 IAGP RGD:736709469 H metabolism of cobalamin associated A gene taxon:9606 20260707 ClinVar RGD 1312825 MMAA HP:0002013 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0002098 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0002154 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0002240 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0002240 PMID:15523652|PMID:15781192|PMID:25741868|PMID:27591164|PMID:28492532|PMID:28497574|RGD:8554872 IAGP RGD:13442519 H metabolism of cobalamin associated A gene taxon:9606 20260707 ClinVar RGD 1312825 MMAA HP:0002861 RGD:8554872 IAGP RGD:714234333 H metabolism of cobalamin associated A gene taxon:9606 20260519 ClinVar RGD 1312825 MMAA HP:0002912 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0002912 PMID:12438653|PMID:15523652|PMID:15781192|PMID:25741868|PMID:28492532|PMID:28497574|PMID:33726816|RGD:8554872 IAGP RGD:8596032 H metabolism of cobalamin associated A gene taxon:9606 20240109 ClinVar RGD 1312825 MMAA HP:0002912 PMID:15308131|PMID:15523652|PMID:15781192|PMID:17957493|PMID:19375370|PMID:23026888|PMID:25741868|PMID:26270765|PMID:28492532|RGD:8554872 IAGP RGD:10766721 H metabolism of cobalamin associated A gene taxon:9606 20260519 ClinVar RGD 1312825 MMAA HP:0002912 PMID:15308131|PMID:15523652|PMID:15781192|PMID:25741868|PMID:28492532|PMID:33029243|RGD:8554872 IAGP RGD:10766722 H metabolism of cobalamin associated A gene taxon:9606 20240109 ClinVar RGD 1312825 MMAA HP:0002912 PMID:15523652|PMID:15781192|PMID:16247646|PMID:21545677|PMID:23711287|PMID:24059531|PMID:25636100|PMID:25741868|PMID:28492532|PMID:28497574|RGD:8554872 IAGP RGD:13469508 H metabolism of cobalamin associated A gene taxon:9606 20240507 ClinVar RGD 1312825 MMAA HP:0002912 PMID:15523652|PMID:15781192|PMID:20549364|PMID:21048060|PMID:22614770|PMID:25741868|PMID:28492532|PMID:28497574|RGD:8554872 IAGP RGD:13785547 H metabolism of cobalamin associated A gene taxon:9606 20240109 ClinVar RGD 1312825 MMAA HP:0002912 PMID:15523652|PMID:15781192|PMID:21048060|PMID:25741868|PMID:25959030|PMID:26270765|PMID:28492532|PMID:32754920|PMID:39494389|RGD:8554872 IAGP RGD:10058838 H metabolism of cobalamin associated A gene taxon:9606 20260609 ClinVar RGD 1312825 MMAA HP:0002912 PMID:15523652|PMID:15781192|PMID:22614770|PMID:23026888|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28497574|RGD:8554872 IAGP RGD:10058839 H metabolism of cobalamin associated A gene taxon:9606 20260602 ClinVar RGD 1312825 MMAA HP:0002912 PMID:15523652|PMID:15781192|PMID:23026888|PMID:25525159|PMID:25741868|PMID:25748407|PMID:28492532|PMID:28497574|RGD:8554872 IAGP RGD:13517097 H metabolism of cobalamin associated A gene taxon:9606 20240109 ClinVar RGD 1312825 MMAA HP:0002912 PMID:15523652|PMID:15781192|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13785518 H metabolism of cobalamin associated A gene taxon:9606 20240109 ClinVar RGD 1312825 MMAA HP:0002912 PMID:15523652|PMID:17728257|PMID:22661206|PMID:25741868|PMID:28497574|RGD:8554872 IAGP RGD:10766741 H metabolism of cobalamin associated A gene taxon:9606 20240709 ClinVar RGD 1312825 MMAA HP:0002912 PMID:15523652|PMID:17728257|PMID:25741868|PMID:28492532|PMID:28497574|PMID:35618652|RGD:8554872 IAGP RGD:127254336 H metabolism of cobalamin associated A gene taxon:9606 20240109 ClinVar RGD 1312825 MMAA HP:0002912 PMID:15523652|PMID:21114891|PMID:23026888|PMID:25741868|PMID:28492532|PMID:28497574|PMID:33453710|RGD:8554872 IAGP RGD:10058840 H metabolism of cobalamin associated A gene taxon:9606 20260519 ClinVar RGD 1312825 MMAA HP:0002912 PMID:25741868|PMID:28492532|PMID:28497574|PMID:33453710|PMID:33726816|RGD:8554872 IAGP RGD:13442517 H metabolism of cobalamin associated A gene taxon:9606 20260519 ClinVar RGD 1312825 MMAA HP:0002912 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11591679 H metabolism of cobalamin associated A gene taxon:9606 20241008 ClinVar RGD 1312825 MMAA HP:0002912 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11594221 H metabolism of cobalamin associated A gene taxon:9606 20210706 ClinVar RGD 1312825 MMAA HP:0002912 PMID:25741868|PMID:28497574|PMID:32754920|RGD:8554872 IAGP RGD:405874697 H metabolism of cobalamin associated A gene taxon:9606 20250211 ClinVar RGD 1312825 MMAA HP:0002912 PMID:28492532|RGD:8554872 IAGP RGD:15155855 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0002912 RGD:8554872 IAGP RGD:11585249 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0002912 RGD:8554872 IAGP RGD:11586833 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0002912 RGD:8554872 IAGP RGD:11595570 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0002912 RGD:8554872 IAGP RGD:11645693 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0002912 RGD:8554872 IAGP RGD:11651258 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0002912 RGD:8554872 IAGP RGD:11652592 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0002912 RGD:8554872 IAGP RGD:11653165 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0002912 RGD:8554872 IAGP RGD:11654412 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0002912 RGD:8554872 IAGP RGD:11656105 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0002912 RGD:8554872 IAGP RGD:11660932 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0002912 RGD:8554872 IAGP RGD:11661175 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0002912 RGD:8554872 IAGP RGD:11663494 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0002919 MIM:251100|PMID:33029243|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20250912 HPO RGD 1312825 MMAA HP:0003145 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20240307 HPO RGD 1312825 MMAA HP:0003210 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0003593 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0004341 MIM:251100|PMID:33029243|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20260618 HPO RGD 1312825 MMAA HP:0008872 MIM:251100|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20230821 HPO RGD 1312825 MMAA HP:0011344 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13606438 H metabolism of cobalamin associated A gene taxon:9606 20210323 ClinVar RGD 1312825 MMAA HP:0012120 MIM:251100|PMID:33029243|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20250912 HPO RGD 1312825 MMAA HP:0012120 PMID:15523652|PMID:15781192|PMID:22614770|PMID:23026888|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28497574|RGD:8554872 IAGP RGD:10058839 H metabolism of cobalamin associated A gene taxon:9606 20260602 ClinVar RGD 1312825 MMAA HP:0031962 MIM:251100|PMID:33029243|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20250912 HPO RGD 1312825 MMAA HP:0034661 MIM:251100|PMID:33029243|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20250912 HPO RGD 1312825 MMAA HP:0034662 MIM:251100|PMID:33029243|RGD:8699517 IAGP H metabolism of cobalamin associated A gene taxon:9606 20250912 HPO RGD 1312825 MMAA HP:0100526 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13490738 H metabolism of cobalamin associated A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0001402 RGD:8554872 IAGP RGD:713352008 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0001402 RGD:8554872 IAGP RGD:713795044 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0001402 RGD:8554872 IAGP RGD:713989273 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0002861 RGD:8554872 IAGP RGD:714061544 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0002861 RGD:8554872 IAGP RGD:714061577 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0002861 RGD:8554872 IAGP RGD:714061724 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0004808 RGD:8554872 IAGP RGD:714048885 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0004808 RGD:8554872 IAGP RGD:714048897 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0006770 RGD:8554872 IAGP RGD:714061635 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0006770 RGD:8554872 IAGP RGD:714061647 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0006770 RGD:8554872 IAGP RGD:714061660 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0007716 RGD:8554872 IAGP RGD:713655543 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260707 ClinVar RGD 1312828 BAZ2A HP:0011797 RGD:8554872 IAGP RGD:713655533 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0012126 RGD:8554872 IAGP RGD:713795015 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0012126 RGD:8554872 IAGP RGD:713795034 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0030359 RGD:8554872 IAGP RGD:714061520 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0100522 RGD:8554872 IAGP RGD:714061586 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312828 BAZ2A HP:0100526 RGD:8554872 IAGP RGD:714061566 H bromodomain adjacent to zinc finger domain 2A gene taxon:9606 20260519 ClinVar RGD 1312830 ICAM5 HP:0002861 RGD:8554872 IAGP RGD:713765996 H intercellular adhesion molecule 5 gene taxon:9606 20260519 ClinVar RGD 1312830 ICAM5 HP:0100526 RGD:8554872 IAGP RGD:713765970 H intercellular adhesion molecule 5 gene taxon:9606 20260519 ClinVar RGD 1312830 ICAM5 HP:0100526 RGD:8554872 IAGP RGD:713766010 H intercellular adhesion molecule 5 gene taxon:9606 20260519 ClinVar RGD 1312832 SIX5 HP:0000003 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000006 MIM:610896|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000074 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000076 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000076 PMID:27657687|RGD:8554872 IAGP RGD:12791826 H SIX homeobox 5 gene taxon:9606 20260519 ClinVar RGD 1312832 SIX5 HP:0000083 MIM:610896|ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000110 MIM:610896|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000126 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000175 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000278 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000324 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000356 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000359 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000365 MIM:610896|ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000370 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000377 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000384 MIM:610896|ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000394 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000402 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000405 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000407 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000410 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0000413 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0004452 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0004467 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0007925 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0008551 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0008586 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0008678 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0009794 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0009796 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0009798 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0010628 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0011332 MIM:610896|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0011387 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0011388 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0011395 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0011481 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0040106 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0100272 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0100274 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312832 SIX5 HP:0100581 ORPHA:107|RGD:8699517 IAGP H SIX homeobox 5 gene taxon:9606 20250814 HPO RGD 1312835 SNX22 HP:0001402 RGD:8554872 IAGP RGD:713354743 H sorting nexin 22 gene taxon:9606 20260519 ClinVar RGD 1312835 SNX22 HP:0004808 RGD:8554872 IAGP RGD:713561135 H sorting nexin 22 gene taxon:9606 20260519 ClinVar RGD 1312835 SNX22 HP:0011797 RGD:8554872 IAGP RGD:713561116 H sorting nexin 22 gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0001402 RGD:8554872 IAGP RGD:714082074 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0001402 RGD:8554872 IAGP RGD:714082080 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0002665 RGD:8554872 IAGP RGD:713716465 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0002665 RGD:8554872 IAGP RGD:713728740 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0002861 RGD:8554872 IAGP RGD:713496263 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0002861 RGD:8554872 IAGP RGD:713496451 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0002861 RGD:8554872 IAGP RGD:713728740 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0004808 RGD:8554872 IAGP RGD:713728740 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0006770 RGD:8554872 IAGP RGD:713496183 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0006770 RGD:8554872 IAGP RGD:713728740 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0011797 RGD:8554872 IAGP RGD:713720424 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0012126 RGD:8554872 IAGP RGD:713570609 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0012126 RGD:8554872 IAGP RGD:713728740 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0030153 RGD:8554872 IAGP RGD:713728740 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0100242 RGD:8554872 IAGP RGD:713496144 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0100522 RGD:8554872 IAGP RGD:713728740 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312837 ZAN HP:0100526 RGD:8554872 IAGP RGD:713496237 H zonadhesin gene taxon:9606 20260519 ClinVar RGD 1312839 EMC7 HP:0006770 RGD:8554872 IAGP RGD:713558373 H ER membrane protein complex subunit 7 gene taxon:9606 20260519 ClinVar RGD 1312839 EMC7 HP:0006770 RGD:8554872 IAGP RGD:713558386 H ER membrane protein complex subunit 7 gene taxon:9606 20260519 ClinVar RGD 1312839 EMC7 HP:0030359 RGD:8554872 IAGP RGD:713558440 H ER membrane protein complex subunit 7 gene taxon:9606 20260519 ClinVar RGD 1312839 EMC7 HP:0100242 RGD:8554872 IAGP RGD:713550634 H ER membrane protein complex subunit 7 gene taxon:9606 20260519 ClinVar RGD 1312841 STK11IP HP:0002861 RGD:8554872 IAGP RGD:713826561 H serine/threonine kinase 11 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312841 STK11IP HP:0004808 RGD:8554872 IAGP RGD:713379758 H serine/threonine kinase 11 interacting protein gene taxon:9606 20260707 ClinVar RGD 1312841 STK11IP HP:0004808 RGD:8554872 IAGP RGD:713783988 H serine/threonine kinase 11 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312841 STK11IP HP:0006770 RGD:8554872 IAGP RGD:713826438 H serine/threonine kinase 11 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312841 STK11IP HP:0012126 RGD:8554872 IAGP RGD:713379758 H serine/threonine kinase 11 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312841 STK11IP HP:0012126 RGD:8554872 IAGP RGD:713509489 H serine/threonine kinase 11 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312841 STK11IP HP:0012126 RGD:8554872 IAGP RGD:713509504 H serine/threonine kinase 11 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312841 STK11IP HP:0012126 RGD:8554872 IAGP RGD:713509525 H serine/threonine kinase 11 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312841 STK11IP HP:0030153 RGD:8554872 IAGP RGD:713787055 H serine/threonine kinase 11 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312841 STK11IP HP:0030153 RGD:8554872 IAGP RGD:713826716 H serine/threonine kinase 11 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312841 STK11IP HP:0100242 RGD:8554872 IAGP RGD:713826627 H serine/threonine kinase 11 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312841 STK11IP HP:0100522 RGD:8554872 IAGP RGD:713509542 H serine/threonine kinase 11 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312841 STK11IP HP:0100522 RGD:8554872 IAGP RGD:714263274 H serine/threonine kinase 11 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312841 STK11IP HP:0100526 RGD:8554872 IAGP RGD:713826424 H serine/threonine kinase 11 interacting protein gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0001402 RGD:8554872 IAGP RGD:713350906 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0001402 RGD:8554872 IAGP RGD:713350913 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0001402 RGD:8554872 IAGP RGD:713350921 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0001402 RGD:8554872 IAGP RGD:714046232 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0001402 RGD:8554872 IAGP RGD:714158094 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0002804 PMID:25741868|PMID:31680123|RGD:8554872 IAGP RGD:15040450 H GCN1 activator of EIF2AK4 gene taxon:9606 20220510 ClinVar RGD 1312843 GCN1 HP:0002861 RGD:8554872 IAGP RGD:713670385 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0002861 RGD:8554872 IAGP RGD:713670398 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0002861 RGD:8554872 IAGP RGD:713670427 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0002861 RGD:8554872 IAGP RGD:713670435 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0002861 RGD:8554872 IAGP RGD:713670510 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0002861 RGD:8554872 IAGP RGD:713670762 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0002861 RGD:8554872 IAGP RGD:713670773 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0002861 RGD:8554872 IAGP RGD:714046232 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0003003 RGD:8554872 IAGP RGD:713670782 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0004808 RGD:8554872 IAGP RGD:714040603 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0004808 RGD:8554872 IAGP RGD:714040648 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0004808 RGD:8554872 IAGP RGD:714043632 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0004808 RGD:8554872 IAGP RGD:714103920 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0004808 RGD:8554872 IAGP RGD:714103925 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0006770 RGD:8554872 IAGP RGD:713622618 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0007716 RGD:8554872 IAGP RGD:713793269 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0011797 RGD:8554872 IAGP RGD:714040627 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0011797 RGD:8554872 IAGP RGD:714046219 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0011797 RGD:8554872 IAGP RGD:714046255 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0011797 RGD:8554872 IAGP RGD:714103936 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0012126 RGD:8554872 IAGP RGD:713622588 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0012126 RGD:8554872 IAGP RGD:713622602 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0012126 RGD:8554872 IAGP RGD:713622604 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0012126 RGD:8554872 IAGP RGD:713622607 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0012126 RGD:8554872 IAGP RGD:713622617 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0012126 RGD:8554872 IAGP RGD:713622622 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0012126 RGD:8554872 IAGP RGD:714046232 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0012126 RGD:8554872 IAGP RGD:714103925 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0030359 RGD:8554872 IAGP RGD:713670569 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0030359 RGD:8554872 IAGP RGD:713670613 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0100242 RGD:8554872 IAGP RGD:713670561 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0100522 RGD:8554872 IAGP RGD:713670582 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0100522 RGD:8554872 IAGP RGD:714043478 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0100526 RGD:8554872 IAGP RGD:713670604 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0100526 RGD:8554872 IAGP RGD:713670813 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0100526 RGD:8554872 IAGP RGD:713670827 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312843 GCN1 HP:0100526 RGD:8554872 IAGP RGD:714103925 H GCN1 activator of EIF2AK4 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000006 MIM:618008|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312845 CYFIP2 HP:0000252 MIM:618008|ORPHA:442835|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312845 CYFIP2 HP:0000252 PMID:25741868|PMID:30664714|PMID:33149277|RGD:8554872 IAGP RGD:38456361 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:152155595 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:401721304 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:713511384 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:714022861 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000286 RGD:8554872 IAGP RGD:407470141 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000316 RGD:8554872 IAGP RGD:407470141 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000337 RGD:8554872 IAGP RGD:407470141 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000348 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0000348 RGD:8554872 IAGP RGD:407470141 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000369 RGD:8554872 IAGP RGD:407470141 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000396 RGD:8554872 IAGP RGD:407470141 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000494 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0000504 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0000508 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0000518 PMID:25741868|RGD:8554872 IAGP RGD:714022861 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000546 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0000568 PMID:25741868|RGD:8554872 IAGP RGD:714022861 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000582 RGD:8554872 IAGP RGD:407470141 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000639 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0000648 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0000668 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:405866639 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000708 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0000717 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:713612640 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000729 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:596928420 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000750 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:713511384 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0000924 PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277|RGD:8554872 IAGP RGD:13208102 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001249 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:596928420 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38470983 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260602 ClinVar RGD 1312845 CYFIP2 HP:0001249 RGD:8554872 IAGP RGD:40814722 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20210323 ClinVar RGD 1312845 CYFIP2 HP:0001250 MIM:618008|ORPHA:442835|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312845 CYFIP2 HP:0001250 PMID:25741868|PMID:30664714|PMID:33149277|RGD:8554872 IAGP RGD:38456361 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:713881238 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:714022861 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001251 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0001252 RGD:8554872 IAGP RGD:407470141 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001257 MIM:618008|ORPHA:442835|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312845 CYFIP2 HP:0001257 PMID:25741868|PMID:30664714|PMID:33149277|RGD:8554872 IAGP RGD:38456361 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001263 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0001263 PMID:25741868|PMID:30664714|PMID:33149277|RGD:8554872 IAGP RGD:38456361 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:401721304 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:713511384 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:714022861 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001263 PMID:25741870|RGD:8554872 IAGP RGD:38470986 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260602 ClinVar RGD 1312845 CYFIP2 HP:0001263 RGD:8554872 IAGP RGD:407470141 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001265 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0001268 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0001272 MIM:618008|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312845 CYFIP2 HP:0001273 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0001288 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20240815 HPO RGD 1312845 CYFIP2 HP:0001290 MIM:618008|ORPHA:442835|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312845 CYFIP2 HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:401721304 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001298 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0001302 PMID:25741868|RGD:8554872 IAGP RGD:714022861 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001315 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0001336 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0001337 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0001344 MIM:618008|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312845 CYFIP2 HP:0001347 MIM:618008|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312845 CYFIP2 HP:0001357 MIM:618008|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312845 CYFIP2 HP:0001402 RGD:8554872 IAGP RGD:714075120 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001508 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0001518 RGD:8554872 IAGP RGD:407470141 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001558 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0001662 RGD:8554872 IAGP RGD:407470141 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0001773 RGD:8554872 IAGP RGD:407470141 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0002019 PMID:28492532|RGD:8554872 IAGP RGD:40888033 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0002020 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0002059 MIM:618008|ORPHA:442835|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312845 CYFIP2 HP:0002063 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0002069 PMID:25741868|RGD:8554872 IAGP RGD:714022861 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0002119 MIM:618008|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312845 CYFIP2 HP:0002133 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0002317 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0002376 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0002421 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0002463 PMID:25741868|RGD:8554872 IAGP RGD:152155595 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0002500 PMID:25741868|RGD:8554872 IAGP RGD:714022861 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0002509 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0002521 MIM:618008|ORPHA:442835|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312845 CYFIP2 HP:0002536 PMID:25741868|RGD:8554872 IAGP RGD:714022861 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0002553 MIM:618008|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312845 CYFIP2 HP:0002665 RGD:8554872 IAGP RGD:714162853 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0002705 PMID:25741868|RGD:8554872 IAGP RGD:401721304 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0002861 RGD:8554872 IAGP RGD:713898752 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0003502 PMID:25741868|RGD:8554872 IAGP RGD:401721304 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0004305 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0004322 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0004755 RGD:8554872 IAGP RGD:407470141 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0006770 RGD:8554872 IAGP RGD:713898769 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0006770 RGD:8554872 IAGP RGD:714162853 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0007018 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0007678 PMID:25741868|RGD:8554872 IAGP RGD:713511384 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0007968 PMID:25741868|RGD:8554872 IAGP RGD:714022861 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0008070 RGD:8554872 IAGP RGD:407470141 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0010804 MIM:618008|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312845 CYFIP2 HP:0010844 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0010851 MIM:618008|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312845 CYFIP2 HP:0011342 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:596928420 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0011443 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0011968 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0012126 RGD:8554872 IAGP RGD:713983045 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0012434 PMID:25741868|RGD:8554872 IAGP RGD:713511384 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0012443 PMID:25741868|RGD:8554872 IAGP RGD:714022861 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0012444 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0012447 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0012547 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:152155595 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0100522 RGD:8554872 IAGP RGD:713898704 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0100526 RGD:8554872 IAGP RGD:713898734 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0100615 RGD:8554872 IAGP RGD:714162853 H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20260519 ClinVar RGD 1312845 CYFIP2 HP:0100660 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0100710 ORPHA:442835|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20230821 HPO RGD 1312845 CYFIP2 HP:0200134 MIM:618008|PMID:29534297|RGD:8699517 IAGP H cytoplasmic FMR1 interacting protein 2 gene taxon:9606 20250912 HPO RGD 1312847 FBXO16 HP:0003003 RGD:8554872 IAGP RGD:714047878 H F-box protein 16 gene taxon:9606 20260519 ClinVar RGD 1312847 FBXO16 HP:0006770 RGD:8554872 IAGP RGD:714047868 H F-box protein 16 gene taxon:9606 20260519 ClinVar RGD 1312847 FBXO16 HP:0012126 RGD:8554872 IAGP RGD:713674419 H F-box protein 16 gene taxon:9606 20260519 ClinVar RGD 1312847 FBXO16 HP:0100526 RGD:8554872 IAGP RGD:714047844 H F-box protein 16 gene taxon:9606 20260519 ClinVar RGD 1312852 ARHGAP18 HP:0002665 RGD:8554872 IAGP RGD:713518163 H Rho GTPase activating protein 18 gene taxon:9606 20260519 ClinVar RGD 1312852 ARHGAP18 HP:0002861 RGD:8554872 IAGP RGD:713518140 H Rho GTPase activating protein 18 gene taxon:9606 20260519 ClinVar RGD 1312852 ARHGAP18 HP:0002861 RGD:8554872 IAGP RGD:713518193 H Rho GTPase activating protein 18 gene taxon:9606 20260519 ClinVar RGD 1312852 ARHGAP18 HP:0002861 RGD:8554872 IAGP RGD:713518288 H Rho GTPase activating protein 18 gene taxon:9606 20260519 ClinVar RGD 1312852 ARHGAP18 HP:0002861 RGD:8554872 IAGP RGD:713518311 H Rho GTPase activating protein 18 gene taxon:9606 20260519 ClinVar RGD 1312852 ARHGAP18 HP:0011797 RGD:8554872 IAGP RGD:713435423 H Rho GTPase activating protein 18 gene taxon:9606 20260519 ClinVar RGD 1312852 ARHGAP18 HP:0100242 RGD:8554872 IAGP RGD:713439800 H Rho GTPase activating protein 18 gene taxon:9606 20260519 ClinVar RGD 1312852 ARHGAP18 HP:0100242 RGD:8554872 IAGP RGD:713518109 H Rho GTPase activating protein 18 gene taxon:9606 20260519 ClinVar RGD 1312852 ARHGAP18 HP:0100242 RGD:8554872 IAGP RGD:713518176 H Rho GTPase activating protein 18 gene taxon:9606 20260519 ClinVar RGD 1312852 ARHGAP18 HP:0100242 RGD:8554872 IAGP RGD:713518265 H Rho GTPase activating protein 18 gene taxon:9606 20260519 ClinVar RGD 1312852 ARHGAP18 HP:0100242 RGD:8554872 IAGP RGD:713551968 H Rho GTPase activating protein 18 gene taxon:9606 20260519 ClinVar RGD 1312852 ARHGAP18 HP:0100526 RGD:8554872 IAGP RGD:713518085 H Rho GTPase activating protein 18 gene taxon:9606 20260519 ClinVar RGD 1312852 ARHGAP18 HP:0410263 RGD:5686816|PMID:19065146 IAGP H Rho GTPase activating protein 18 gene taxon:9606 20190628 RGD RGD 1312856 ATP6V0A4 HP:0000007 MIM:602722|PMID:12414817|RGD:8699517 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20250912 HPO RGD 1312856 ATP6V0A4 HP:0000077 PMID:25741868|RGD:8554872 IAGP RGD:405855042 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0000077 PMID:25741868|RGD:8554872 IAGP RGD:405855043 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0000077 PMID:25741868|RGD:8554872 IAGP RGD:597831710 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0000077 PMID:25741868|RGD:8554872 IAGP RGD:8558502 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260602 ClinVar RGD 1312856 ATP6V0A4 HP:0000093 PMID:25741868|RGD:8554872 IAGP RGD:401919909 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0000103 PMID:25741868|RGD:8554872 IAGP RGD:401855158 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0000103 PMID:25741868|RGD:8554872 IAGP RGD:401855694 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0000105 PMID:12414817|PMID:18632794|PMID:23754897|PMID:25741868|PMID:28492532|PMID:29202719|RGD:8554872 IAGP RGD:8558509 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0000121 MIM:602722|PMID:16611712|RGD:8699517 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20250912 HPO RGD 1312856 ATP6V0A4 HP:0000121 PMID:12414817|PMID:18632794|PMID:23754897|PMID:25741868|PMID:28492532|PMID:29202719|RGD:8554872 IAGP RGD:8558509 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0000121 PMID:12414817|PMID:25285676|PMID:25741868|PMID:26787776|PMID:28188436|PMID:28233610|PMID:28492532|PMID:29311258|RGD:8554872 IAGP RGD:38461112 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0000121 PMID:25741868|RGD:8554872 IAGP RGD:401855158 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0000121 PMID:25741868|RGD:8554872 IAGP RGD:407470176 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0000124 PMID:25741868|RGD:8554872 IAGP RGD:155268340 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0000767 RGD:8554872 IAGP RGD:13532430 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0001402 PMID:17576681|PMID:25741868|PMID:28492532|PMID:29202719|PMID:29627839|PMID:34159584|PMID:39382926|PMID:9536098|RGD:8554872 IAGP RGD:28907018 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0001508 MIM:602722|PMID:12414817|RGD:8699517 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20250912 HPO RGD 1312856 ATP6V0A4 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:401855694 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:401919909 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:407470176 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:714167072 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0001510 MIM:602722|PMID:12414817|RGD:8699517 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20250912 HPO RGD 1312856 ATP6V0A4 HP:0001942 MIM:602722|PMID:12414817|RGD:8699517 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20250912 HPO RGD 1312856 ATP6V0A4 HP:0001942 PMID:25741868|RGD:8554872 IAGP RGD:714167072 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0001944 MIM:602722|PMID:12414817|RGD:8699517 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20250912 HPO RGD 1312856 ATP6V0A4 HP:0001944 PMID:12414817|PMID:18632794|PMID:23754897|PMID:25741868|PMID:28492532|PMID:29202719|RGD:8554872 IAGP RGD:8558509 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0001947 PMID:25741868|RGD:8554872 IAGP RGD:407470176 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0001947 PMID:25741868|RGD:8554872 IAGP RGD:714167072 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0001959 PMID:25741868|RGD:8554872 IAGP RGD:401855158 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0001959 PMID:25741868|RGD:8554872 IAGP RGD:401855694 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0002013 MIM:602722|PMID:12414817|RGD:8699517 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20250912 HPO RGD 1312856 ATP6V0A4 HP:0002013 PMID:25741868|RGD:8554872 IAGP RGD:401855694 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0002013 PMID:25741868|RGD:8554872 IAGP RGD:401919909 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0002014 PMID:12414817|PMID:18632794|PMID:23754897|PMID:25741868|PMID:28492532|PMID:29202719|RGD:8554872 IAGP RGD:8558509 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0002014 PMID:25741868|RGD:8554872 IAGP RGD:401855694 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0002019 PMID:25741868|RGD:8554872 IAGP RGD:401855694 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0002150 MIM:602722|PMID:10973252|RGD:8699517 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20250912 HPO RGD 1312856 ATP6V0A4 HP:0002748 MIM:602722|PMID:10973252|RGD:8699517 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20250912 HPO RGD 1312856 ATP6V0A4 HP:0002748 PMID:12414817|PMID:18632794|PMID:23754897|PMID:25741868|PMID:28492532|PMID:29202719|RGD:8554872 IAGP RGD:8558509 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0002861 RGD:8554872 IAGP RGD:713470917 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0002861 RGD:8554872 IAGP RGD:713471096 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0002900 MIM:602722|PMID:10973252|PMID:16611712|RGD:8699517 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20250912 HPO RGD 1312856 ATP6V0A4 HP:0002900 PMID:25741868|RGD:8554872 IAGP RGD:714167072 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0003126 PMID:25741868|RGD:8554872 IAGP RGD:401919909 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0003259 PMID:25741868|RGD:8554872 IAGP RGD:401919909 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0003593 MIM:602722|PMID:10973252|RGD:8699517 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20250912 HPO RGD 1312856 ATP6V0A4 HP:0003623 MIM:602722|PMID:10973252|RGD:8699517 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20250912 HPO RGD 1312856 ATP6V0A4 HP:0005280 PMID:25741868|RGD:8554872 IAGP RGD:401855694 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0005976 RGD:1599383|PMID:10973252 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20070201 RGD RGD 1312856 ATP6V0A4 HP:0006770 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11604174 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0006770 PMID:25741868|RGD:8554872 IAGP RGD:8558502 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260602 ClinVar RGD 1312856 ATP6V0A4 HP:0006770 RGD:8554872 IAGP RGD:713470930 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0006770 RGD:8554872 IAGP RGD:713470986 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0006770 RGD:8554872 IAGP RGD:713471002 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0006770 RGD:8554872 IAGP RGD:713471051 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0008341 MIM:602722|PMID:12414817|RGD:8699517 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20250912 HPO RGD 1312856 ATP6V0A4 HP:0008341 PMID:12414817|PMID:25285676|PMID:25741868|PMID:26787776|PMID:28188436|PMID:28233610|PMID:28492532|PMID:29311258|PMID:29725771|PMID:31672324|PMID:31959358|PMID:35822476|PMID:35990030|RGD:8554872 IAGP RGD:14396382 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0008341 PMID:25741868|RGD:8554872 IAGP RGD:14697877 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260707 ClinVar RGD 1312856 ATP6V0A4 HP:0008341 PMID:25741868|RGD:8554872 IAGP RGD:401919909 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0008341 PMID:31959358|RGD:8554872 IAGP RGD:151733023 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20220420 ClinVar RGD 1312856 ATP6V0A4 HP:0008341 RGD:8554872 IAGP RGD:596941710 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0008619 MIM:602722|PMID:16611712|RGD:8699517 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20250912 HPO RGD 1312856 ATP6V0A4 HP:0008619 PMID:25741868|RGD:8554872 IAGP RGD:13592861 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0011463 MIM:602722|PMID:10973252|RGD:8699517 IAGP H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20250912 HPO RGD 1312856 ATP6V0A4 HP:0012126 RGD:8554872 IAGP RGD:150498875 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0012408 PMID:12414817|PMID:25285676|PMID:25741868|PMID:26787776|PMID:28188436|PMID:28233610|PMID:28492532|PMID:29311258|RGD:8554872 IAGP RGD:38461112 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0012408 PMID:25741868|RGD:8554872 IAGP RGD:401855699 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0025466 PMID:25741868|RGD:8554872 IAGP RGD:407470176 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0033097 PMID:25741868|RGD:8554872 IAGP RGD:401919909 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0033736 PMID:25741868|RGD:8554872 IAGP RGD:401919909 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0100526 RGD:8554872 IAGP RGD:150456538 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0100526 RGD:8554872 IAGP RGD:150480174 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0100526 RGD:8554872 IAGP RGD:713470948 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0100526 RGD:8554872 IAGP RGD:713471017 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0100526 RGD:8554872 IAGP RGD:713471032 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0100526 RGD:8554872 IAGP RGD:713471065 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312856 ATP6V0A4 HP:0100526 RGD:8554872 IAGP RGD:713471127 H ATPase H+ transporting V0 subunit a4 gene taxon:9606 20260519 ClinVar RGD 1312859 NAGK HP:0006770 RGD:8554872 IAGP RGD:713670556 H N-acetylglucosamine kinase gene taxon:9606 20260519 ClinVar RGD 1312859 NAGK HP:0006770 RGD:8554872 IAGP RGD:713670577 H N-acetylglucosamine kinase gene taxon:9606 20260519 ClinVar RGD 1312859 NAGK HP:0012126 RGD:8554872 IAGP RGD:713521158 H N-acetylglucosamine kinase gene taxon:9606 20260519 ClinVar RGD 1312859 NAGK HP:0030359 RGD:8554872 IAGP RGD:713670591 H N-acetylglucosamine kinase gene taxon:9606 20260519 ClinVar RGD 1312859 NAGK HP:0100526 RGD:8554872 IAGP RGD:713670647 H N-acetylglucosamine kinase gene taxon:9606 20260519 ClinVar RGD 1312859 NAGK HP:0100526 RGD:8554872 IAGP RGD:714041843 H N-acetylglucosamine kinase gene taxon:9606 20260519 ClinVar RGD 1312861 RAB34 HP:0000007 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0000175 MIM:620718|PMID:37384395|PMID:37619988|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0000180 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0000256 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0000262 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0000278 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0000316 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0000337 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0000347 MIM:620718|PMID:37384395|PMID:37619988|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0000369 MIM:620718|PMID:37384395|PMID:37619988|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0000431 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0000664 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0001162 MIM:620718|PMID:37384395|PMID:37619988|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0001177 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0001274 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0001321 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0001561 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0001629 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0001660 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0001830 MIM:620718|PMID:37384395|PMID:37619988|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0001841 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0002023 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0002861 RGD:8554872 IAGP RGD:714172836 H RAB34, member RAS oncogene family gene taxon:9606 20260519 ClinVar RGD 1312861 RAB34 HP:0003097 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0004808 RGD:8554872 IAGP RGD:713667384 H RAB34, member RAS oncogene family gene taxon:9606 20260519 ClinVar RGD 1312861 RAB34 HP:0004808 RGD:8554872 IAGP RGD:713673395 H RAB34, member RAS oncogene family gene taxon:9606 20260519 ClinVar RGD 1312861 RAB34 HP:0006159 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0006695 MIM:620718|PMID:37384395|PMID:37619988|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0006770 RGD:8554872 IAGP RGD:714172842 H RAB34, member RAS oncogene family gene taxon:9606 20260519 ClinVar RGD 1312861 RAB34 HP:0008551 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0010112 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0010880 MIM:620718|PMID:37619988|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0012126 RGD:8554872 IAGP RGD:714137200 H RAB34, member RAS oncogene family gene taxon:9606 20260519 ClinVar RGD 1312861 RAB34 HP:0033183 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0034198 MIM:620718|PMID:37384395|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0034199 MIM:620718|PMID:37619988|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312861 RAB34 HP:0100242 RGD:8554872 IAGP RGD:714137200 H RAB34, member RAS oncogene family gene taxon:9606 20260519 ClinVar RGD 1312861 RAB34 HP:0100522 RGD:8554872 IAGP RGD:714172825 H RAB34, member RAS oncogene family gene taxon:9606 20260519 ClinVar RGD 1312861 RAB34 HP:0100522 RGD:8554872 IAGP RGD:714172879 H RAB34, member RAS oncogene family gene taxon:9606 20260519 ClinVar RGD 1312861 RAB34 HP:0100526 RGD:8554872 IAGP RGD:714137200 H RAB34, member RAS oncogene family gene taxon:9606 20260519 ClinVar RGD 1312861 RAB34 HP:0410030 MIM:620718|PMID:37384395|PMID:37619988|RGD:8699517 IAGP H RAB34, member RAS oncogene family gene taxon:9606 20250912 HPO RGD 1312863 RBM5 HP:0001402 RGD:8554872 IAGP RGD:713750826 H RNA binding motif protein 5 gene taxon:9606 20260519 ClinVar RGD 1312863 RBM5 HP:0002665 RGD:8554872 IAGP RGD:713924726 H RNA binding motif protein 5 gene taxon:9606 20260519 ClinVar RGD 1312863 RBM5 HP:0002861 RGD:8554872 IAGP RGD:713827982 H RNA binding motif protein 5 gene taxon:9606 20260519 ClinVar RGD 1312863 RBM5 HP:0004808 RGD:8554872 IAGP RGD:713730875 H RNA binding motif protein 5 gene taxon:9606 20260519 ClinVar RGD 1312863 RBM5 HP:0006770 RGD:8554872 IAGP RGD:713924726 H RNA binding motif protein 5 gene taxon:9606 20260519 ClinVar RGD 1312863 RBM5 HP:0007716 RGD:8554872 IAGP RGD:713924726 H RNA binding motif protein 5 gene taxon:9606 20260519 ClinVar RGD 1312863 RBM5 HP:0011797 RGD:8554872 IAGP RGD:713735882 H RNA binding motif protein 5 gene taxon:9606 20260519 ClinVar RGD 1312863 RBM5 HP:0012126 RGD:8554872 IAGP RGD:713928594 H RNA binding motif protein 5 gene taxon:9606 20260519 ClinVar RGD 1312863 RBM5 HP:0030153 RGD:8554872 IAGP RGD:713924726 H RNA binding motif protein 5 gene taxon:9606 20260519 ClinVar RGD 1312863 RBM5 HP:0030359 RGD:8554872 IAGP RGD:713827889 H RNA binding motif protein 5 gene taxon:9606 20260519 ClinVar RGD 1312863 RBM5 HP:0100615 RGD:8554872 IAGP RGD:713924726 H RNA binding motif protein 5 gene taxon:9606 20260519 ClinVar RGD 1312865 CTNNA2 HP:0000007 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0000238 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0000256 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0000648 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0000729 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0001250 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0001251 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0001252 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0001276 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0001302 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0001321 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0001339 PMID:25741868|RGD:8554872 IAGP RGD:407572869 H catenin alpha 2 gene taxon:9606 20260519 ClinVar RGD 1312865 CTNNA2 HP:0001344 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0001347 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0001776 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0002079 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0002089 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0002194 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0002353 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0002365 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0002510 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0002521 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0002540 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0002861 RGD:8554872 IAGP RGD:713676704 H catenin alpha 2 gene taxon:9606 20260519 ClinVar RGD 1312865 CTNNA2 HP:0003593 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0004322 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0004808 RGD:8554872 IAGP RGD:714047677 H catenin alpha 2 gene taxon:9606 20260519 ClinVar RGD 1312865 CTNNA2 HP:0005484 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0010819 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0010862 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0010864 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20260209 HPO RGD 1312865 CTNNA2 HP:0011344 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0011797 RGD:8554872 IAGP RGD:714044944 H catenin alpha 2 gene taxon:9606 20260519 ClinVar RGD 1312865 CTNNA2 HP:0012126 RGD:8554872 IAGP RGD:713522575 H catenin alpha 2 gene taxon:9606 20260519 ClinVar RGD 1312865 CTNNA2 HP:0012434 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0012469 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0032794 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0034295 MIM:618174|PMID:30013181|RGD:8699517 IAGP H catenin alpha 2 gene taxon:9606 20250912 HPO RGD 1312865 CTNNA2 HP:0100526 RGD:8554872 IAGP RGD:713676635 H catenin alpha 2 gene taxon:9606 20260519 ClinVar RGD 1312865 CTNNA2 HP:0100615 PMID:25741868|RGD:8554872 IAGP RGD:126908691 H catenin alpha 2 gene taxon:9606 20260519 ClinVar RGD 1312868 RWDD2B HP:0002861 RGD:8554872 IAGP RGD:713854295 H RWD domain containing 2B gene taxon:9606 20260519 ClinVar RGD 1312868 RWDD2B HP:0100242 RGD:8554872 IAGP RGD:713782487 H RWD domain containing 2B gene taxon:9606 20260519 ClinVar RGD 1312871 SCRN3 HP:0001402 RGD:8554872 IAGP RGD:714262673 H secernin 3 gene taxon:9606 20260519 ClinVar RGD 1312871 SCRN3 HP:0004808 RGD:8554872 IAGP RGD:713389174 H secernin 3 gene taxon:9606 20260519 ClinVar RGD 1312871 SCRN3 HP:0012126 RGD:8554872 IAGP RGD:713927369 H secernin 3 gene taxon:9606 20260519 ClinVar RGD 1312871 SCRN3 HP:0100242 RGD:8554872 IAGP RGD:713738698 H secernin 3 gene taxon:9606 20260519 ClinVar RGD 1312871 SCRN3 HP:0100526 RGD:8554872 IAGP RGD:713389147 H secernin 3 gene taxon:9606 20260707 ClinVar RGD 1312871 SCRN3 HP:0100615 RGD:8554872 IAGP RGD:714113302 H secernin 3 gene taxon:9606 20260519 ClinVar RGD 1312873 SNRPD2 HP:0002861 RGD:8554872 IAGP RGD:713842481 H small nuclear ribonucleoprotein D2 polypeptide gene taxon:9606 20260519 ClinVar RGD 1312873 SNRPD2 HP:0012126 RGD:8554872 IAGP RGD:713763186 H small nuclear ribonucleoprotein D2 polypeptide gene taxon:9606 20260519 ClinVar RGD 1312873 SNRPD2 HP:0012126 RGD:8554872 IAGP RGD:713997228 H small nuclear ribonucleoprotein D2 polypeptide gene taxon:9606 20260519 ClinVar RGD 1312877 UBE2J1 HP:0001402 RGD:8554872 IAGP RGD:713728097 H ubiquitin conjugating enzyme E2 J1 gene taxon:9606 20260519 ClinVar RGD 1312877 UBE2J1 HP:0003003 RGD:8554872 IAGP RGD:713487769 H ubiquitin conjugating enzyme E2 J1 gene taxon:9606 20260519 ClinVar RGD 1312877 UBE2J1 HP:0004808 RGD:8554872 IAGP RGD:713716048 H ubiquitin conjugating enzyme E2 J1 gene taxon:9606 20260707 ClinVar RGD 1312877 UBE2J1 HP:0004808 RGD:8554872 IAGP RGD:713719985 H ubiquitin conjugating enzyme E2 J1 gene taxon:9606 20260519 ClinVar RGD 1312877 UBE2J1 HP:0004808 RGD:8554872 IAGP RGD:713720004 H ubiquitin conjugating enzyme E2 J1 gene taxon:9606 20260519 ClinVar RGD 1312877 UBE2J1 HP:0006770 RGD:8554872 IAGP RGD:713487650 H ubiquitin conjugating enzyme E2 J1 gene taxon:9606 20260519 ClinVar RGD 1312877 UBE2J1 HP:0006770 RGD:8554872 IAGP RGD:713487832 H ubiquitin conjugating enzyme E2 J1 gene taxon:9606 20260519 ClinVar RGD 1312877 UBE2J1 HP:0006770 RGD:8554872 IAGP RGD:713487852 H ubiquitin conjugating enzyme E2 J1 gene taxon:9606 20260519 ClinVar RGD 1312877 UBE2J1 HP:0011797 RGD:8554872 IAGP RGD:713728143 H ubiquitin conjugating enzyme E2 J1 gene taxon:9606 20260519 ClinVar RGD 1312877 UBE2J1 HP:0100242 RGD:8554872 IAGP RGD:713719985 H ubiquitin conjugating enzyme E2 J1 gene taxon:9606 20260519 ClinVar RGD 1312877 UBE2J1 HP:0100522 RGD:8554872 IAGP RGD:713720004 H ubiquitin conjugating enzyme E2 J1 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000006 MIM:179300|MIM:614823|MIM:617439|PMID:22275001|PMID:31138930|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20260209 HPO RGD 1312880 SMAD6 HP:0000014 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000098 RGD:8554872 IAGP RGD:714110765 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000204 PMID:25741868|PMID:28492532|PMID:32499606|PMID:34429528|RGD:8554872 IAGP RGD:408367877 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000243 PMID:25741868|PMID:28492532|PMID:32499606|PMID:36732661|RGD:8554872 IAGP RGD:150528492 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000243 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155269021 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000252 RGD:8554872 IAGP RGD:407470058 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000274 RGD:8554872 IAGP RGD:405291129 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000366 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000388 PMID:25741868|RGD:8554872 IAGP RGD:150528728 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000486 RGD:8554872 IAGP RGD:408393584 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000505 RGD:8554872 IAGP RGD:408393584 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000716 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000750 MIM:617439|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20230821 HPO RGD 1312880 SMAD6 HP:0000795 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000822 ORPHA:402075|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20230821 HPO RGD 1312880 SMAD6 HP:0000836 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000925 RGD:8554872 IAGP RGD:405291129 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000953 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000960 PMID:25741868|PMID:28492532|PMID:32499606|PMID:34429528|RGD:8554872 IAGP RGD:408367877 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0000974 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001075 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001249 RGD:8554872 IAGP RGD:405291129 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001252 PMID:25741868|PMID:28492532|PMID:32499606|PMID:34429528|RGD:8554872 IAGP RGD:408367877 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001357 RGD:8554872 IAGP RGD:150339249 H SMAD family member 6 gene taxon:9606 20260602 ClinVar RGD 1312880 SMAD6 HP:0001357 RGD:8554872 IAGP RGD:151234200 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001363 MIM:617439|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20230821 HPO RGD 1312880 SMAD6 HP:0001511 RGD:8554872 IAGP RGD:405853798 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001518 RGD:8554872 IAGP RGD:405853798 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001561 RGD:8554872 IAGP RGD:407470058 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001626 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001627 RGD:8554872 IAGP RGD:151234176 H SMAD family member 6 gene taxon:9606 20260707 ClinVar RGD 1312880 SMAD6 HP:0001627 RGD:8554872 IAGP RGD:151234203 H SMAD family member 6 gene taxon:9606 20260707 ClinVar RGD 1312880 SMAD6 HP:0001627 RGD:8554872 IAGP RGD:151234210 H SMAD family member 6 gene taxon:9606 20260707 ClinVar RGD 1312880 SMAD6 HP:0001629 RGD:8554872 IAGP RGD:405853798 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001629 RGD:8554872 IAGP RGD:407470058 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001629 RGD:8554872 IAGP RGD:408393584 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001642 MIM:614823|PMID:30796334|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20250912 HPO RGD 1312880 SMAD6 HP:0001646 RGD:8554872 IAGP RGD:714110765 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001647 MIM:614823|ORPHA:402075|PMID:22275001|PMID:30796334|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20250912 HPO RGD 1312880 SMAD6 HP:0001647 RGD:8554872 IAGP RGD:151662361 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001650 MIM:614823|ORPHA:402075|PMID:22275001|PMID:30796334|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20250912 HPO RGD 1312880 SMAD6 HP:0001650 RGD:8554872 IAGP RGD:598214738 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001653 MIM:614823|PMID:30796334|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20250912 HPO RGD 1312880 SMAD6 HP:0001655 MIM:614823|PMID:30796334|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20250912 HPO RGD 1312880 SMAD6 HP:0001659 MIM:614823|ORPHA:402075|PMID:30796334|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20250912 HPO RGD 1312880 SMAD6 HP:0001680 MIM:614823|ORPHA:402075|PMID:22275001|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20250912 HPO RGD 1312880 SMAD6 HP:0001680 PMID:25741868|PMID:28492532|PMID:28659821|PMID:31138930|PMID:32499606|PMID:34953066|PMID:36049609|RGD:8554872 IAGP RGD:151663051 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001680 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156081810 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001702 RGD:8554872 IAGP RGD:714110765 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0001712 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156081810 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0002007 RGD:8554872 IAGP RGD:150339249 H SMAD family member 6 gene taxon:9606 20260602 ClinVar RGD 1312880 SMAD6 HP:0002032 PMID:28492532|PMID:32641753|PMID:35519826|RGD:8554872 IAGP RGD:34889392 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0002242 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0002354 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0002779 PMID:25741868|RGD:8554872 IAGP RGD:38597811 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0002894 RGD:8554872 IAGP RGD:598214738 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0002974 MIM:179300|PMID:31138930|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20250912 HPO RGD 1312880 SMAD6 HP:0002974 PMID:21681813|PMID:28492532|PMID:34953066|RGD:8554872 IAGP RGD:126912954 H SMAD family member 6 gene taxon:9606 20260609 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:25741868|PMID:28492532|PMID:28659821|PMID:31138930|PMID:32499606|PMID:34953066|PMID:36049609|RGD:8554872 IAGP RGD:151663051 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:25741868|PMID:28492532|PMID:28808027|PMID:34953066|RGD:8554872 IAGP RGD:151234198 H SMAD family member 6 gene taxon:9606 20250311 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:25741868|PMID:28492532|PMID:30796334|PMID:30848080|PMID:34953066|RGD:8554872 IAGP RGD:40886824 H SMAD family member 6 gene taxon:9606 20240319 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:27606499|PMID:28492532|PMID:28659821|PMID:31138930|PMID:32499606|PMID:34953066|RGD:8554872 IAGP RGD:151234194 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:28492532|PMID:31138930|RGD:8554872 IAGP RGD:14979153 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:28492532|PMID:31138930|RGD:8554872 IAGP RGD:14979155 H SMAD family member 6 gene taxon:9606 20230214 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:28492532|PMID:31138930|RGD:8554872 IAGP RGD:14979160 H SMAD family member 6 gene taxon:9606 20250311 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:28492532|PMID:31138930|RGD:8554872 IAGP RGD:14979232 H SMAD family member 6 gene taxon:9606 20240319 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:28492532|PMID:34953066|RGD:8554872 IAGP RGD:150548434 H SMAD family member 6 gene taxon:9606 20240403 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:28492532|PMID:34953066|RGD:8554872 IAGP RGD:151234175 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:28492532|PMID:34953066|RGD:8554872 IAGP RGD:151234182 H SMAD family member 6 gene taxon:9606 20250311 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:28492532|PMID:34953066|RGD:8554872 IAGP RGD:151234189 H SMAD family member 6 gene taxon:9606 20250311 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:28492532|RGD:8554872 IAGP RGD:13497450 H SMAD family member 6 gene taxon:9606 20260602 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:28492532|RGD:8554872 IAGP RGD:38464192 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:28973083|RGD:8554872 IAGP RGD:151234213 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0002974 PMID:31138930|RGD:8554872 IAGP RGD:14979161 H SMAD family member 6 gene taxon:9606 20260616 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979151 H SMAD family member 6 gene taxon:9606 20210323 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979152 H SMAD family member 6 gene taxon:9606 20210323 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979156 H SMAD family member 6 gene taxon:9606 20210323 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979157 H SMAD family member 6 gene taxon:9606 20260602 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979158 H SMAD family member 6 gene taxon:9606 20210323 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979159 H SMAD family member 6 gene taxon:9606 20210323 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979230 H SMAD family member 6 gene taxon:9606 20260602 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979231 H SMAD family member 6 gene taxon:9606 20260602 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979233 H SMAD family member 6 gene taxon:9606 20210323 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979234 H SMAD family member 6 gene taxon:9606 20210323 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979236 H SMAD family member 6 gene taxon:9606 20210323 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979237 H SMAD family member 6 gene taxon:9606 20210323 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979238 H SMAD family member 6 gene taxon:9606 20210323 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979239 H SMAD family member 6 gene taxon:9606 20210323 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979240 H SMAD family member 6 gene taxon:9606 20210323 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:14979241 H SMAD family member 6 gene taxon:9606 20210323 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:150332212 H SMAD family member 6 gene taxon:9606 20210810 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:150339249 H SMAD family member 6 gene taxon:9606 20260602 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:150548436 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234171 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234173 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234174 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234177 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234179 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234180 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234181 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234184 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234185 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234186 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234188 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234190 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234192 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234193 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234199 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234201 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234202 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234205 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234207 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234209 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234211 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234212 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234215 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234216 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0002974 RGD:8554872 IAGP RGD:151234217 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0003002 RGD:8554872 IAGP RGD:598214738 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0003577 MIM:614823|PMID:22275001|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20250912 HPO RGD 1312880 SMAD6 HP:0004380 ORPHA:402075|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20230821 HPO RGD 1312880 SMAD6 HP:0004383 ORPHA:402075|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20230821 HPO RGD 1312880 SMAD6 HP:0004749 RGD:8554872 IAGP RGD:598214738 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0004933 MIM:614823|ORPHA:402075|PMID:30796334|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20250912 HPO RGD 1312880 SMAD6 HP:0004935 RGD:8554872 IAGP RGD:405853798 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0004942 MIM:614823|PMID:30796334|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20250912 HPO RGD 1312880 SMAD6 HP:0004962 ORPHA:402075|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20230821 HPO RGD 1312880 SMAD6 HP:0004963 MIM:614823|PMID:22275001|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20250912 HPO RGD 1312880 SMAD6 HP:0004970 RGD:8554872 IAGP RGD:151662361 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0005110 RGD:8554872 IAGP RGD:598214738 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0005113 ORPHA:402075|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20230821 HPO RGD 1312880 SMAD6 HP:0005458 RGD:8554872 IAGP RGD:150339249 H SMAD family member 6 gene taxon:9606 20260602 ClinVar RGD 1312880 SMAD6 HP:0006394 MIM:179300|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20230821 HPO RGD 1312880 SMAD6 HP:0006424 RGD:8554872 IAGP RGD:405291129 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0006687 MIM:614823|PMID:30796334|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20250912 HPO RGD 1312880 SMAD6 HP:0009121 PMID:25741868|RGD:8554872 IAGP RGD:151234195 H SMAD family member 6 gene taxon:9606 20250211 ClinVar RGD 1312880 SMAD6 HP:0009121 RGD:8554872 IAGP RGD:151234218 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0010442 PMID:28492532|PMID:34953066|RGD:8554872 IAGP RGD:150548434 H SMAD family member 6 gene taxon:9606 20240319 ClinVar RGD 1312880 SMAD6 HP:0010442 RGD:8554872 IAGP RGD:151234206 H SMAD family member 6 gene taxon:9606 20220118 ClinVar RGD 1312880 SMAD6 HP:0010460 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0010674 RGD:8554872 IAGP RGD:405291129 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0010780 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0010881 PMID:28492532|RGD:8554872 IAGP RGD:13802864 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0011103 ORPHA:402075|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20230821 HPO RGD 1312880 SMAD6 HP:0011428 RGD:8554872 IAGP RGD:405854894 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0011438 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0011675 RGD:8554872 IAGP RGD:598214738 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0012647 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0012727 RGD:8554872 IAGP RGD:150339248 H SMAD family member 6 gene taxon:9606 20260602 ClinVar RGD 1312880 SMAD6 HP:0012727 RGD:8554872 IAGP RGD:150339249 H SMAD family member 6 gene taxon:9606 20260602 ClinVar RGD 1312880 SMAD6 HP:0012758 MIM:617439|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20230821 HPO RGD 1312880 SMAD6 HP:0012768 PMID:25741868|RGD:8554872 IAGP RGD:38597811 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0030148 ORPHA:402075|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20230821 HPO RGD 1312880 SMAD6 HP:0030680 PMID:28492532|RGD:8554872 IAGP RGD:13802864 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0031834 PMID:25741868|PMID:28492532|PMID:32499606|PMID:34429528|RGD:8554872 IAGP RGD:408367877 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0033568 RGD:8554872 IAGP RGD:405853798 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0100022 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0100242 RGD:8554872 IAGP RGD:713765313 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0100526 RGD:8554872 IAGP RGD:713765206 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0100543 PMID:28492532|RGD:8554872 IAGP RGD:13809915 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0100559 RGD:8554872 IAGP RGD:405291129 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0100807 RGD:8554872 IAGP RGD:714110765 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:0500008 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14723137 H SMAD family member 6 gene taxon:9606 20260519 ClinVar RGD 1312880 SMAD6 HP:4000158 MIM:614823|PMID:30796334|RGD:8699517 IAGP H SMAD family member 6 gene taxon:9606 20250912 HPO RGD 1312882 GOLGA7B HP:0100526 RGD:8554872 IAGP RGD:713400245 H golgin A7 family member B gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0000007 MIM:210370|PMID:15937078|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260209 HPO RGD 1312886 CYP4V2 HP:0000505 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0000505 PMID:15042513|PMID:21385027|PMID:23221965|PMID:23538635|PMID:25741868|PMID:28492532|PMID:29691984|PMID:31589614|PMID:31964843|PMID:34310258|PMID:34426522|PMID:36460718|RGD:8554872 IAGP RGD:8595659 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0000510 PMID:24480711|PMID:25741868|PMID:28041643|PMID:28492532|RGD:8554872 IAGP RGD:13435040 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260616 ClinVar RGD 1312886 CYP4V2 HP:0000510 RGD:8554872 IAGP RGD:8604228 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20220809 ClinVar RGD 1312886 CYP4V2 HP:0000529 MIM:210370|PMID:15937078|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250912 HPO RGD 1312886 CYP4V2 HP:0000531 MIM:210370|PMID:15937078|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250912 HPO RGD 1312886 CYP4V2 HP:0000533 MIM:210370|ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260209 HPO RGD 1312886 CYP4V2 HP:0000546 MIM:210370|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0000551 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0000556 PMID:15042513|PMID:15860296|PMID:16088246|PMID:25118264|PMID:25741868|PMID:28492532|PMID:28512305|PMID:29785639|RGD:8554872 IAGP RGD:8604204 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:15042513|PMID:16199547|PMID:21565171|PMID:22497028|PMID:22693542|PMID:23661369|PMID:25118264|PMID:25593508|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8595662 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260602 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:15042513|PMID:16199547|PMID:25118264|PMID:25741868|PMID:28492532|PMID:31964843|PMID:38219857|RGD:8554872 IAGP RGD:151353420 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:15042513|PMID:21385027|PMID:23221965|PMID:23538635|PMID:25741868|PMID:28492532|PMID:29691984|PMID:31589614|PMID:31964843|PMID:34310258|PMID:34426522|PMID:36460718|RGD:8554872 IAGP RGD:8595659 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:15042513|PMID:22772592|PMID:24033266|PMID:25356976|PMID:25593508|PMID:25611614|PMID:25741868|PMID:26971461|PMID:28051075|PMID:28492532|PMID:28848678|RGD:8554872 IAGP RGD:8604231 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260602 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:15042513|PMID:23221965|PMID:25118264|PMID:25356976|PMID:25741868|PMID:28492532|PMID:31964843|PMID:33090715|PMID:34923510|PMID:36460718|RGD:8554872 IAGP RGD:26910705 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:15042513|PMID:25118264|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32531858|PMID:34310258|RGD:8554872 IAGP RGD:8604221 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:15042513|PMID:25118264|PMID:28492532|RGD:8554872 IAGP RGD:26909946 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:15042513|PMID:25741868|PMID:28051075|PMID:28492532|PMID:31589614|PMID:31964843|RGD:8554872 IAGP RGD:8595658 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:15042513|PMID:25741868|PMID:28453600|PMID:28492532|PMID:31872526|PMID:33090715|PMID:33816482|PMID:34426522|PMID:34923510|RGD:8554872 IAGP RGD:8604215 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:15042513|PMID:25741868|PMID:28453600|PMID:28492532|PMID:31872526|PMID:33090715|PMID:33816482|PMID:34426522|PMID:34923510|RGD:8554872 IAGP RGD:8604220 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:16179904|PMID:17962476|PMID:24480711|PMID:25741868|PMID:28051075|PMID:28492532|PMID:28698241|PMID:31512983|PMID:31960602|PMID:31964843|PMID:32531858|PMID:33090715|PMID:33546218|PMID:33816482|PMID:33964374|PMID:34310258|RGD:8554872 IAGP RGD:8604209 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:16179904|PMID:23462753|PMID:24739949|PMID:25593508|PMID:25741868|PMID:28492532|PMID:29691984|PMID:31054281|PMID:31589614|PMID:31964843|PMID:32100970|PMID:32531858|PMID:33090715|PMID:33546218|PMID:33816482|PMID:36464167|RGD:8554872 IAGP RGD:8604217 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:16179904|PMID:25741868|PMID:28492532|PMID:30429639|RGD:8554872 IAGP RGD:151889403 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:16179904|PMID:25741868|PMID:28492532|PMID:30429639|RGD:8554872 IAGP RGD:8604216 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:25629076|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151777651 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126743466 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156349808 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28878953 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8604223 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260616 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:25741868|PMID:31512983|PMID:3196484|RGD:8554872 IAGP RGD:153302887 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939275 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939760 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941463 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941499 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941923 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596942613 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944182 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944885 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26909705 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20220420 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:28883796 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20241112 ClinVar RGD 1312886 CYP4V2 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:405264513 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0000556 RGD:8554872 IAGP RGD:405264511 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20240409 ClinVar RGD 1312886 CYP4V2 HP:0000556 RGD:8554872 IAGP RGD:405264512 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20240409 ClinVar RGD 1312886 CYP4V2 HP:0000556 RGD:8554872 IAGP RGD:405264515 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20240409 ClinVar RGD 1312886 CYP4V2 HP:0000556 RGD:8554872 IAGP RGD:405264517 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20240409 ClinVar RGD 1312886 CYP4V2 HP:0000556 RGD:8554872 IAGP RGD:405264520 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20240409 ClinVar RGD 1312886 CYP4V2 HP:0000556 RGD:8554872 IAGP RGD:405264521 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20240409 ClinVar RGD 1312886 CYP4V2 HP:0000556 RGD:8554872 IAGP RGD:405264530 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20240409 ClinVar RGD 1312886 CYP4V2 HP:0000556 RGD:8554872 IAGP RGD:405264531 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20240409 ClinVar RGD 1312886 CYP4V2 HP:0000556 RGD:8554872 IAGP RGD:713761682 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0000556 RGD:8554872 IAGP RGD:8604222 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20240409 ClinVar RGD 1312886 CYP4V2 HP:0000580 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0000603 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0000613 PMID:28492532|RGD:8554872 IAGP RGD:13530382 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0000618 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0000648 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126768322 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000648 PMID:25741868|RGD:8554872 IAGP RGD:596944357 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0000654 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0000662 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260209 HPO RGD 1312886 CYP4V2 HP:0001099 PMID:16179904|PMID:23462753|PMID:24739949|PMID:25593508|PMID:25741868|PMID:28492532|PMID:29691984|PMID:31054281|PMID:31589614|PMID:31964843|PMID:32100970|PMID:32531858|PMID:33090715|PMID:33546218|PMID:33816482|PMID:36464167|RGD:8554872 IAGP RGD:8604217 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0001105 PMID:15042513|PMID:21385027|PMID:23221965|PMID:23538635|PMID:25741868|PMID:28492532|PMID:29691984|PMID:31589614|PMID:31964843|PMID:34310258|PMID:34426522|PMID:36460718|RGD:8554872 IAGP RGD:8595659 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0001129 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0001131 PMID:15042513|PMID:25741868|PMID:28453600|PMID:28492532|PMID:31872526|PMID:33090715|PMID:33816482|PMID:34426522|PMID:34923510|RGD:8554872 IAGP RGD:8604215 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:15042513|PMID:25741868|PMID:28453600|PMID:28492532|PMID:31872526|PMID:33090715|PMID:33816482|PMID:34426522|PMID:34923510|RGD:8554872 IAGP RGD:8604220 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250107 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:15937078|PMID:23221965|PMID:24480711|PMID:28492532|RGD:8554872 IAGP RGD:13515936 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210608 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13519322 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20211130 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8604223 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260616 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:11584293 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210323 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:11584754 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210323 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:11585410 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210323 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:11586283 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250729 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:11587922 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210323 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:11588552 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210608 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:11588946 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230214 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:11589073 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210608 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:11589546 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210706 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:11591904 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210406 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:11592400 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20220420 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:11592528 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210323 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:11593685 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230214 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:15124567 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20241112 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:28871631 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20220510 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:28871871 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20220510 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:28871873 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20220420 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:28878603 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210323 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:28878949 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210511 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:28883796 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20241112 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:28903687 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210406 ClinVar RGD 1312886 CYP4V2 HP:0001131 PMID:28492532|RGD:8554872 IAGP RGD:28903994 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20220510 ClinVar RGD 1312886 CYP4V2 HP:0001131 RGD:8554872 IAGP RGD:11586198 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210323 ClinVar RGD 1312886 CYP4V2 HP:0001131 RGD:8554872 IAGP RGD:11651482 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250729 ClinVar RGD 1312886 CYP4V2 HP:0001131 RGD:8554872 IAGP RGD:11651515 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250729 ClinVar RGD 1312886 CYP4V2 HP:0001131 RGD:8554872 IAGP RGD:11654995 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250729 ClinVar RGD 1312886 CYP4V2 HP:0001131 RGD:8554872 IAGP RGD:11657664 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210323 ClinVar RGD 1312886 CYP4V2 HP:0001131 RGD:8554872 IAGP RGD:28871422 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250729 ClinVar RGD 1312886 CYP4V2 HP:0001131 RGD:8554872 IAGP RGD:28871869 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210323 ClinVar RGD 1312886 CYP4V2 HP:0001131 RGD:8554872 IAGP RGD:28872139 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210323 ClinVar RGD 1312886 CYP4V2 HP:0001131 RGD:8554872 IAGP RGD:28872143 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210323 ClinVar RGD 1312886 CYP4V2 HP:0001131 RGD:8554872 IAGP RGD:28878211 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250729 ClinVar RGD 1312886 CYP4V2 HP:0001131 RGD:8554872 IAGP RGD:28879328 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210323 ClinVar RGD 1312886 CYP4V2 HP:0001131 RGD:8554872 IAGP RGD:28879333 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210323 ClinVar RGD 1312886 CYP4V2 HP:0001131 RGD:8554872 IAGP RGD:28903693 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20210323 ClinVar RGD 1312886 CYP4V2 HP:0001133 MIM:210370|ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260209 HPO RGD 1312886 CYP4V2 HP:0001141 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0001402 RGD:8554872 IAGP RGD:713752477 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0001622 PMID:15042513|PMID:21385027|PMID:23221965|PMID:23538635|PMID:25741868|PMID:28492532|PMID:29691984|PMID:31589614|PMID:31964843|PMID:34310258|PMID:34426522|PMID:36460718|RGD:8554872 IAGP RGD:8595659 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0002650 PMID:15042513|PMID:21385027|PMID:23221965|PMID:23538635|PMID:25741868|PMID:28492532|PMID:29691984|PMID:31589614|PMID:31964843|PMID:34310258|PMID:34426522|PMID:36460718|RGD:8554872 IAGP RGD:8595659 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0002861 RGD:8554872 IAGP RGD:714240093 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0004322 PMID:15042513|PMID:21385027|PMID:23221965|PMID:23538635|PMID:25741868|PMID:28492532|PMID:29691984|PMID:31589614|PMID:31964843|PMID:34310258|PMID:34426522|PMID:36460718|RGD:8554872 IAGP RGD:8595659 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0007401 PMID:15042513|PMID:21385027|PMID:23221965|PMID:23538635|PMID:25741868|PMID:28492532|PMID:29691984|PMID:31589614|PMID:31964843|PMID:34310258|PMID:34426522|PMID:36460718|RGD:8554872 IAGP RGD:8595659 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0007663 MIM:210370|PMID:15937078|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260209 HPO RGD 1312886 CYP4V2 HP:0007675 MIM:210370|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0007722 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0007754 PMID:15042513|PMID:21385027|PMID:23221965|PMID:23538635|PMID:25741868|PMID:28492532|PMID:29691984|PMID:31589614|PMID:31964843|PMID:34310258|PMID:34426522|PMID:36460718|RGD:8554872 IAGP RGD:8595659 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0007760 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0007814 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0007830 PMID:16179904|PMID:25741868|PMID:28492532|PMID:30429639|RGD:8554872 IAGP RGD:8604216 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0007880 MIM:210370|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0011003 MIM:210370|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0011505 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0011797 RGD:8554872 IAGP RGD:713934179 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0011797 RGD:8554872 IAGP RGD:713938231 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0030153 RGD:8554872 IAGP RGD:713771540 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0030329 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0030490 PMID:15042513|PMID:25741868|PMID:28453600|PMID:28492532|PMID:31872526|PMID:33090715|PMID:33816482|PMID:34426522|PMID:34923510|RGD:8554872 IAGP RGD:8604220 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0030491 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0030528 MIM:210370|ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20250416 HPO RGD 1312886 CYP4V2 HP:0031528 ORPHA:41751|RGD:8699517 IAGP H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20230821 HPO RGD 1312886 CYP4V2 HP:0100242 RGD:8554872 IAGP RGD:714240085 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0100242 RGD:8554872 IAGP RGD:714240100 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312886 CYP4V2 HP:0100526 RGD:8554872 IAGP RGD:714240097 H cytochrome P450 family 4 subfamily V member 2 gene taxon:9606 20260519 ClinVar RGD 1312888 TRIM69 HP:0006770 RGD:8554872 IAGP RGD:713745509 H tripartite motif containing 69 gene taxon:9606 20260519 ClinVar RGD 1312888 TRIM69 HP:0012126 RGD:8554872 IAGP RGD:713958490 H tripartite motif containing 69 gene taxon:9606 20260519 ClinVar RGD 1312888 TRIM69 HP:0100242 RGD:8554872 IAGP RGD:713564204 H tripartite motif containing 69 gene taxon:9606 20260519 ClinVar RGD 1312888 TRIM69 HP:0100522 RGD:8554872 IAGP RGD:713745567 H tripartite motif containing 69 gene taxon:9606 20260519 ClinVar RGD 1312890 RHBDF1 HP:0001402 RGD:8554872 IAGP RGD:714159047 H rhomboid 5 homolog 1 gene taxon:9606 20260519 ClinVar RGD 1312890 RHBDF1 HP:0002861 RGD:8554872 IAGP RGD:714032413 H rhomboid 5 homolog 1 gene taxon:9606 20260519 ClinVar RGD 1312890 RHBDF1 HP:0012126 RGD:8554872 IAGP RGD:713960851 H rhomboid 5 homolog 1 gene taxon:9606 20260519 ClinVar RGD 1312890 RHBDF1 HP:0012126 RGD:8554872 IAGP RGD:713960891 H rhomboid 5 homolog 1 gene taxon:9606 20260519 ClinVar RGD 1312890 RHBDF1 HP:0100242 RGD:8554872 IAGP RGD:714032509 H rhomboid 5 homolog 1 gene taxon:9606 20260519 ClinVar RGD 1312890 RHBDF1 HP:0100242 RGD:8554872 IAGP RGD:714032532 H rhomboid 5 homolog 1 gene taxon:9606 20260519 ClinVar RGD 1312890 RHBDF1 HP:0100522 RGD:8554872 IAGP RGD:714032207 H rhomboid 5 homolog 1 gene taxon:9606 20260519 ClinVar RGD 1312890 RHBDF1 HP:0100526 RGD:8554872 IAGP RGD:713960879 H rhomboid 5 homolog 1 gene taxon:9606 20260707 ClinVar RGD 1312892 CDC16 HP:0003003 RGD:8554872 IAGP RGD:713820462 H cell division cycle 16 gene taxon:9606 20260519 ClinVar RGD 1312892 CDC16 HP:0004808 RGD:8554872 IAGP RGD:713654721 H cell division cycle 16 gene taxon:9606 20260519 ClinVar RGD 1312892 CDC16 HP:0012126 RGD:8554872 IAGP RGD:713801106 H cell division cycle 16 gene taxon:9606 20260519 ClinVar RGD 1312892 CDC16 HP:0012126 RGD:8554872 IAGP RGD:713801124 H cell division cycle 16 gene taxon:9606 20260519 ClinVar RGD 1312892 CDC16 HP:0012126 RGD:8554872 IAGP RGD:713801150 H cell division cycle 16 gene taxon:9606 20260519 ClinVar RGD 1312892 CDC16 HP:0012126 RGD:8554872 IAGP RGD:713801165 H cell division cycle 16 gene taxon:9606 20260519 ClinVar RGD 1312892 CDC16 HP:0012126 RGD:8554872 IAGP RGD:713801202 H cell division cycle 16 gene taxon:9606 20260519 ClinVar RGD 1312892 CDC16 HP:0012126 RGD:8554872 IAGP RGD:713986587 H cell division cycle 16 gene taxon:9606 20260519 ClinVar RGD 1312892 CDC16 HP:0012126 RGD:8554872 IAGP RGD:713986597 H cell division cycle 16 gene taxon:9606 20260519 ClinVar RGD 1312892 CDC16 HP:0100242 RGD:8554872 IAGP RGD:713654808 H cell division cycle 16 gene taxon:9606 20260519 ClinVar RGD 1312892 CDC16 HP:0100242 RGD:8554872 IAGP RGD:713857377 H cell division cycle 16 gene taxon:9606 20260519 ClinVar RGD 1312892 CDC16 HP:0100522 RGD:8554872 IAGP RGD:713857220 H cell division cycle 16 gene taxon:9606 20260519 ClinVar RGD 1312892 CDC16 HP:0100526 RGD:8554872 IAGP RGD:713659529 H cell division cycle 16 gene taxon:9606 20260519 ClinVar RGD 1312892 CDC16 HP:0100526 RGD:8554872 IAGP RGD:713857273 H cell division cycle 16 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0000007 MIM:617767|PMID:26167768|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20250912 HPO RGD 1312894 PIBF1 HP:0000044 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0000126 RGD:8554872 IAGP RGD:13207946 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0000175 RGD:8554872 IAGP RGD:40887965 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0000202 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0000218 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0000238 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0000256 MIM:617767|PMID:26167768|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20250912 HPO RGD 1312894 PIBF1 HP:0000276 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0000286 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0000324 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0000369 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0000426 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0000463 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0000486 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0000508 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0000548 MIM:617767|PMID:26167768|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20250912 HPO RGD 1312894 PIBF1 HP:0000574 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0000612 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0000639 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0000657 MIM:617767|ORPHA:475|PMID:26167768|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20250912 HPO RGD 1312894 PIBF1 HP:0000692 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0000708 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0000864 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0001084 RGD:8554872 IAGP RGD:714007465 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0001159 MIM:617767|PMID:26167768|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20250912 HPO RGD 1312894 PIBF1 HP:0001161 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0001182 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0001249 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0001250 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0001251 MIM:617767|ORPHA:475|PMID:26167768|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20250912 HPO RGD 1312894 PIBF1 HP:0001252 MIM:617767|ORPHA:475|PMID:26167768|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20250912 HPO RGD 1312894 PIBF1 HP:0001257 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0001263 MIM:617767|ORPHA:475|PMID:26167768|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20250912 HPO RGD 1312894 PIBF1 HP:0001263 RGD:8554872 IAGP RGD:13207946 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0001288 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0001290 RGD:8554872 IAGP RGD:13207946 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0001305 PMID:31474318|RGD:8554872 IAGP RGD:14689537 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0001320 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0001320 RGD:8554872 IAGP RGD:13207946 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0001337 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0001344 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0001402 RGD:8554872 IAGP RGD:714158491 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0001402 RGD:8554872 IAGP RGD:714158495 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0001402 RGD:8554872 IAGP RGD:714158499 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0001541 RGD:8554872 IAGP RGD:13207946 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0001696 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0001744 MIM:617767|PMID:26167768|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20250912 HPO RGD 1312894 PIBF1 HP:0001762 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0001829 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0001999 RGD:8554872 IAGP RGD:13207946 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0002079 RGD:8554872 IAGP RGD:13207946 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0002084 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0002104 MIM:617767|ORPHA:475|PMID:26167768|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20250912 HPO RGD 1312894 PIBF1 HP:0002126 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0002188 MIM:617767|PMID:26167768|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20250912 HPO RGD 1312894 PIBF1 HP:0002251 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0002269 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0002419 MIM:617767|PMID:26167768|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20250912 HPO RGD 1312894 PIBF1 HP:0002419 RGD:8554872 IAGP RGD:13207946 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0002419 RGD:8554872 IAGP RGD:40887967 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0002553 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0002650 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0002650 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0002793 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0002861 RGD:8554872 IAGP RGD:713880773 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0002876 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0003003 RGD:8554872 IAGP RGD:713880689 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0003312 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0003508 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0004279 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0004422 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0005181 RGD:8554872 IAGP RGD:714007465 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0006725 RGD:8554872 IAGP RGD:713880718 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0007370 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0008872 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0010864 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0010877 PMID:25741868|RGD:8554872 IAGP RGD:152999080 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0011815 PMID:25741868|PMID:26167768|PMID:30858804|PMID:31474318|RGD:8554872 IAGP RGD:14350073 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20210323 ClinVar RGD 1312894 PIBF1 HP:0012126 RGD:8554872 IAGP RGD:713805584 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0012126 RGD:8554872 IAGP RGD:713805604 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0012126 RGD:8554872 IAGP RGD:713805625 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0012126 RGD:8554872 IAGP RGD:713986910 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0030153 RGD:8554872 IAGP RGD:714159919 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0030680 ORPHA:475|RGD:8699517 IAGP H progesterone immunomodulatory binding factor 1 gene taxon:9606 20230821 HPO RGD 1312894 PIBF1 HP:0033678 RGD:8554872 IAGP RGD:714007465 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0100242 RGD:8554872 IAGP RGD:713880705 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0100242 RGD:8554872 IAGP RGD:714159919 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0100522 RGD:8554872 IAGP RGD:714159919 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0100526 RGD:8554872 IAGP RGD:713880799 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0100526 RGD:8554872 IAGP RGD:713880813 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0100526 RGD:8554872 IAGP RGD:713880857 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312894 PIBF1 HP:0100526 RGD:8554872 IAGP RGD:714159919 H progesterone immunomodulatory binding factor 1 gene taxon:9606 20260519 ClinVar RGD 1312895 SULF2 HP:0002861 RGD:8554872 IAGP RGD:713968894 H sulfatase 2 gene taxon:9606 20260519 ClinVar RGD 1312895 SULF2 HP:0002861 RGD:8554872 IAGP RGD:713969020 H sulfatase 2 gene taxon:9606 20260519 ClinVar RGD 1312895 SULF2 HP:0004808 RGD:8554872 IAGP RGD:713931720 H sulfatase 2 gene taxon:9606 20260519 ClinVar RGD 1312895 SULF2 HP:0004808 RGD:8554872 IAGP RGD:713966263 H sulfatase 2 gene taxon:9606 20260519 ClinVar RGD 1312895 SULF2 HP:0006770 RGD:8554872 IAGP RGD:713968876 H sulfatase 2 gene taxon:9606 20260519 ClinVar RGD 1312895 SULF2 HP:0006770 RGD:8554872 IAGP RGD:713969029 H sulfatase 2 gene taxon:9606 20260519 ClinVar RGD 1312895 SULF2 HP:0011797 RGD:8554872 IAGP RGD:713966246 H sulfatase 2 gene taxon:9606 20260519 ClinVar RGD 1312895 SULF2 HP:0012126 RGD:8554872 IAGP RGD:713778992 H sulfatase 2 gene taxon:9606 20260519 ClinVar RGD 1312895 SULF2 HP:0030153 RGD:8554872 IAGP RGD:713966263 H sulfatase 2 gene taxon:9606 20260519 ClinVar RGD 1312895 SULF2 HP:0100242 RGD:8554872 IAGP RGD:713968959 H sulfatase 2 gene taxon:9606 20260519 ClinVar RGD 1312895 SULF2 HP:0100242 RGD:8554872 IAGP RGD:713968987 H sulfatase 2 gene taxon:9606 20260519 ClinVar RGD 1312895 SULF2 HP:0100242 RGD:8554872 IAGP RGD:713968996 H sulfatase 2 gene taxon:9606 20260519 ClinVar RGD 1312895 SULF2 HP:0100526 RGD:8554872 IAGP RGD:713968591 H sulfatase 2 gene taxon:9606 20260519 ClinVar RGD 1312897 DSE HP:0000007 MIM:615539|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20260209 HPO RGD 1312897 DSE HP:0000009 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000023 MIM:615539|ORPHA:2953|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0000028 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000085 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000118 PMID:28492532|RGD:8554872 IAGP RGD:156172425 H dermatan sulfate epimerase gene taxon:9606 20260519 ClinVar RGD 1312897 DSE HP:0000126 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000160 MIM:615539|ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250416 HPO RGD 1312897 DSE HP:0000175 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20260209 HPO RGD 1312897 DSE HP:0000218 MIM:615539|ORPHA:2953|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0000219 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000239 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000248 MIM:615539|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0000297 MIM:615539|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000308 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000316 MIM:615539|ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250416 HPO RGD 1312897 DSE HP:0000343 MIM:615539|ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20260209 HPO RGD 1312897 DSE HP:0000358 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20240815 HPO RGD 1312897 DSE HP:0000365 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20251023 HPO RGD 1312897 DSE HP:0000377 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20240208 HPO RGD 1312897 DSE HP:0000400 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000411 MIM:615539|ORPHA:2953|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0000483 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000486 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000494 MIM:615539|ORPHA:2953|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0000501 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000504 PMID:25741868|RGD:8554872 IAGP RGD:598122335 H dermatan sulfate epimerase gene taxon:9606 20260519 ClinVar RGD 1312897 DSE HP:0000506 MIM:615539|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0000541 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000545 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000592 MIM:615539|ORPHA:2953|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20260209 HPO RGD 1312897 DSE HP:0000592 PMID:25741868|RGD:8554872 IAGP RGD:598122335 H dermatan sulfate epimerase gene taxon:9606 20260519 ClinVar RGD 1312897 DSE HP:0000678 MIM:615539|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20260209 HPO RGD 1312897 DSE HP:0000766 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000787 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000974 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0000978 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0001058 MIM:615539|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0001075 MIM:615539|ORPHA:2953|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0001103 RGD:8554872 IAGP RGD:40887423 H dermatan sulfate epimerase gene taxon:9606 20260519 ClinVar RGD 1312897 DSE HP:0001166 MIM:615539|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0001181 MIM:615539|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0001182 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0001238 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0001249 MIM:615539|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20260209 HPO RGD 1312897 DSE HP:0001324 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20251023 HPO RGD 1312897 DSE HP:0001363 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0001382 MIM:615539|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20260209 HPO RGD 1312897 DSE HP:0001402 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12838002 H dermatan sulfate epimerase gene taxon:9606 20260519 ClinVar RGD 1312897 DSE HP:0001402 PMID:28492532|RGD:8554872 IAGP RGD:405136731 H dermatan sulfate epimerase gene taxon:9606 20260519 ClinVar RGD 1312897 DSE HP:0001519 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0001581 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0001582 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0001627 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0001634 MIM:615539|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0001653 MIM:615539|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0001654 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0001655 MIM:615539|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0001762 MIM:615539|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0001762 PMID:25741868|RGD:8554872 IAGP RGD:598122335 H dermatan sulfate epimerase gene taxon:9606 20260519 ClinVar RGD 1312897 DSE HP:0001776 MIM:615539|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0001892 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0001933 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0002007 MIM:615539|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0002019 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0002059 MIM:615539|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0002107 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0002119 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0002194 MIM:615539|ORPHA:2953|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0002650 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20251023 HPO RGD 1312897 DSE HP:0002751 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0002761 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0002804 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0002829 MIM:615539|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0002861 RGD:8554872 IAGP RGD:713511678 H dermatan sulfate epimerase gene taxon:9606 20260519 ClinVar RGD 1312897 DSE HP:0002947 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0003196 MIM:615539|ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250416 HPO RGD 1312897 DSE HP:0003198 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0003199 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0003319 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0003324 MIM:615539|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0003326 MIM:615539|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0003414 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0003577 MIM:615539|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0004474 MIM:615539|PMID:23704329|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250912 HPO RGD 1312897 DSE HP:0004794 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0005272 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0006184 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0007420 PMID:25741868|RGD:8554872 IAGP RGD:598122335 H dermatan sulfate epimerase gene taxon:9606 20260519 ClinVar RGD 1312897 DSE HP:0007906 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0011800 MIM:615539|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0012385 MIM:615539|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0012534 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0031869 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0100016 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0100522 RGD:8554872 IAGP RGD:714259279 H dermatan sulfate epimerase gene taxon:9606 20260519 ClinVar RGD 1312897 DSE HP:0410030 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20230821 HPO RGD 1312897 DSE HP:0430043 ORPHA:2953|RGD:8699517 IAGP H dermatan sulfate epimerase gene taxon:9606 20250814 HPO RGD 1312899 CDKL1 HP:0012126 RGD:8554872 IAGP RGD:713955997 H cyclin dependent kinase like 1 gene taxon:9606 20260519 ClinVar RGD 1312899 CDKL1 HP:0012126 RGD:8554872 IAGP RGD:713955998 H cyclin dependent kinase like 1 gene taxon:9606 20260519 ClinVar RGD 1312899 CDKL1 HP:0012126 RGD:8554872 IAGP RGD:713956000 H cyclin dependent kinase like 1 gene taxon:9606 20260519 ClinVar RGD 1312901 AIF1L HP:0006770 RGD:8554872 IAGP RGD:713554988 H allograft inflammatory factor 1 like gene taxon:9606 20260519 ClinVar RGD 1312901 AIF1L HP:0100242 RGD:8554872 IAGP RGD:713555017 H allograft inflammatory factor 1 like gene taxon:9606 20260519 ClinVar RGD 1312901 AIF1L HP:0100522 RGD:8554872 IAGP RGD:713555038 H allograft inflammatory factor 1 like gene taxon:9606 20260519 ClinVar RGD 1312904 RO60 HP:0001402 RGD:8554872 IAGP RGD:713767532 H Ro60, Y RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1312904 RO60 HP:0001402 RGD:8554872 IAGP RGD:713767695 H Ro60, Y RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1312904 RO60 HP:0001402 RGD:8554872 IAGP RGD:713767829 H Ro60, Y RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1312904 RO60 HP:0006770 RGD:8554872 IAGP RGD:713511008 H Ro60, Y RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1312904 RO60 HP:0011797 RGD:8554872 IAGP RGD:713734498 H Ro60, Y RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1312907 MATN3 HP:0000006 MIM:140600|MIM:607078|PMID:11479597|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20251023 HPO RGD 1312907 MATN3 HP:0000007 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20260209 HPO RGD 1312907 MATN3 HP:0000767 MIM:608728|ORPHA:156728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20260209 HPO RGD 1312907 MATN3 HP:0000829 PMID:14729835|PMID:15459972|PMID:21965141|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8621821 H matrilin 3 gene taxon:9606 20260602 ClinVar RGD 1312907 MATN3 HP:0000922 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0000926 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20260209 HPO RGD 1312907 MATN3 HP:0001216 MIM:607078|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0001288 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0001377 MIM:608728|ORPHA:156728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0001384 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0001385 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0001387 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0002515 MIM:608728|ORPHA:156728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20251023 HPO RGD 1312907 MATN3 HP:0002650 PMID:14729835|PMID:15459972|PMID:21965141|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8621821 H matrilin 3 gene taxon:9606 20260602 ClinVar RGD 1312907 MATN3 HP:0002651 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0002654 MIM:607078|PMID:14729835|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0002654 PMID:11479597|PMID:14729835|PMID:15459972|PMID:16199550|PMID:16287128|PMID:18518980|PMID:20301302|PMID:21965141|PMID:25741868|PMID:26377240|PMID:26499313|PMID:28492532|PMID:30138938|PMID:34122524|PMID:38378010|RGD:8554872 IAGP RGD:8597553 H matrilin 3 gene taxon:9606 20260519 ClinVar RGD 1312907 MATN3 HP:0002654 PMID:14729835|PMID:15459972|PMID:21965141|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8621821 H matrilin 3 gene taxon:9606 20260602 ClinVar RGD 1312907 MATN3 HP:0002654 PMID:14729835|PMID:16287128|PMID:21922596|PMID:28492532|RGD:8554872 IAGP RGD:8597555 H matrilin 3 gene taxon:9606 20250311 ClinVar RGD 1312907 MATN3 HP:0002654 PMID:14729835|PMID:16287128|PMID:28492532|PMID:34092239|RGD:8554872 IAGP RGD:152078514 H matrilin 3 gene taxon:9606 20230214 ClinVar RGD 1312907 MATN3 HP:0002654 PMID:15948199|PMID:18205203|PMID:28492532|RGD:8554872 IAGP RGD:8597557 H matrilin 3 gene taxon:9606 20220510 ClinVar RGD 1312907 MATN3 HP:0002654 PMID:17517694|PMID:20428984|RGD:8554872 IAGP RGD:8597552 H matrilin 3 gene taxon:9606 20260602 ClinVar RGD 1312907 MATN3 HP:0002654 PMID:18205203|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152078526 H matrilin 3 gene taxon:9606 20260519 ClinVar RGD 1312907 MATN3 HP:0002654 PMID:25741868|RGD:8554872 IAGP RGD:152166859 H matrilin 3 gene taxon:9606 20220906 ClinVar RGD 1312907 MATN3 HP:0002654 RGD:8554872 IAGP RGD:21070629 H matrilin 3 gene taxon:9606 20220510 ClinVar RGD 1312907 MATN3 HP:0002656 MIM:607078|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20260209 HPO RGD 1312907 MATN3 HP:0002663 RGD:1599920|PMID:11479597 IAGP H matrilin 3 gene taxon:9606 20070221 RGD RGD 1312907 MATN3 HP:0002758 MIM:140600|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0002812 MIM:607078|PMID:14729835|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0002829 MIM:607078|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0002857 MIM:607078|ORPHA:93311|PMID:14729835|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20251023 HPO RGD 1312907 MATN3 HP:0002857 PMID:14729835|PMID:15459972|PMID:21965141|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8621821 H matrilin 3 gene taxon:9606 20260602 ClinVar RGD 1312907 MATN3 HP:0002938 MIM:608728|ORPHA:156728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20260209 HPO RGD 1312907 MATN3 HP:0002970 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20260209 HPO RGD 1312907 MATN3 HP:0002979 MIM:608728|ORPHA:156728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0002980 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0002983 MIM:608728|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0003016 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20260209 HPO RGD 1312907 MATN3 HP:0003025 MIM:607078|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0003026 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20260209 HPO RGD 1312907 MATN3 HP:0003037 ORPHA:156728|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0003088 MIM:607078|ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250416 HPO RGD 1312907 MATN3 HP:0003090 MIM:607078|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0003170 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0003173 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0003177 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0003180 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20260209 HPO RGD 1312907 MATN3 HP:0003184 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0003300 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0003365 MIM:607078|ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250416 HPO RGD 1312907 MATN3 HP:0003375 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0003391 PMID:14729835|PMID:15459972|PMID:21965141|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8621821 H matrilin 3 gene taxon:9606 20260602 ClinVar RGD 1312907 MATN3 HP:0003418 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0003502 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0003577 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0003593 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0003701 PMID:14729835|PMID:15459972|PMID:21965141|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8621821 H matrilin 3 gene taxon:9606 20260602 ClinVar RGD 1312907 MATN3 HP:0003839 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0004268 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0004322 MIM:607078|ORPHA:156728|PMID:14729835|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0004808 RGD:8554872 IAGP RGD:713384000 H matrilin 3 gene taxon:9606 20260519 ClinVar RGD 1312907 MATN3 HP:0005054 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0005257 MIM:608728|ORPHA:156728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0005743 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0005877 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0005930 PMID:25741868|RGD:8554872 IAGP RGD:405657192 H matrilin 3 gene taxon:9606 20260519 ClinVar RGD 1312907 MATN3 HP:0006429 MIM:607078|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0006785 PMID:14729835|PMID:15459972|PMID:21965141|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8621821 H matrilin 3 gene taxon:9606 20260602 ClinVar RGD 1312907 MATN3 HP:0008103 MIM:607078|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0008419 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0008794 MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0008800 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0008828 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0008873 MIM:608728|ORPHA:156728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0009826 ORPHA:156728|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0010049 MIM:607078|PMID:15948199|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20260209 HPO RGD 1312907 MATN3 HP:0010582 MIM:607078|MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0010585 MIM:607078|MIM:608728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0010631 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0012313 MIM:140600|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250508 HPO RGD 1312907 MATN3 HP:0012368 MIM:608728|ORPHA:156728|PMID:15121775|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20260209 HPO RGD 1312907 MATN3 HP:0012514 PMID:14729835|PMID:15459972|PMID:21965141|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8621821 H matrilin 3 gene taxon:9606 20260602 ClinVar RGD 1312907 MATN3 HP:0030838 MIM:607078|PMID:15948199|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312907 MATN3 HP:0030839 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0030839 PMID:14729835|PMID:15459972|PMID:21965141|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8621821 H matrilin 3 gene taxon:9606 20260602 ClinVar RGD 1312907 MATN3 HP:0030840 ORPHA:93311|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20230821 HPO RGD 1312907 MATN3 HP:0100864 MIM:607078|PMID:15948199|RGD:8699517 IAGP H matrilin 3 gene taxon:9606 20250912 HPO RGD 1312911 PURG HP:0001402 RGD:8554872 IAGP RGD:713494008 H purine rich element binding protein G gene taxon:9606 20260519 ClinVar RGD 1312911 PURG HP:0004808 RGD:8554872 IAGP RGD:713494008 H purine rich element binding protein G gene taxon:9606 20260519 ClinVar RGD 1312911 PURG HP:0030153 RGD:8554872 IAGP RGD:713991690 H purine rich element binding protein G gene taxon:9606 20260519 ClinVar RGD 1312911 PURG HP:0100242 RGD:8554872 IAGP RGD:713494008 H purine rich element binding protein G gene taxon:9606 20260519 ClinVar RGD 1312911 PURG HP:0100522 RGD:8554872 IAGP RGD:713494008 H purine rich element binding protein G gene taxon:9606 20260519 ClinVar RGD 1312911 PURG HP:0100526 RGD:8554872 IAGP RGD:713494008 H purine rich element binding protein G gene taxon:9606 20260519 ClinVar RGD 1312913 PRORP HP:0000007 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0000233 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0000286 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0000308 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0000316 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0000407 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0000543 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0000709 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0000729 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0000786 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0000815 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0001249 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0001250 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0001263 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0001269 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0001276 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0001284 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0001337 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0001511 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0001513 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0001649 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0002076 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0002151 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0002197 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0002315 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0002354 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0002495 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0002650 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0003074 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0003326 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0004418 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0005484 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0006989 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0007340 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0008529 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0011344 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0011968 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0012074 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0012377 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0025406 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0030891 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0032388 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0032653 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0033748 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312913 PRORP HP:0100654 MIM:619737|PMID:34715011|RGD:8699517 IAGP H protein only RNase P catalytic subunit gene taxon:9606 20250912 HPO RGD 1312916 MSRB1 HP:0002861 RGD:8554872 IAGP RGD:714040111 H methionine sulfoxide reductase B1 gene taxon:9606 20260519 ClinVar RGD 1312916 MSRB1 HP:0100526 RGD:8554872 IAGP RGD:714040103 H methionine sulfoxide reductase B1 gene taxon:9606 20260519 ClinVar RGD 1312919 MXD4 HP:0006770 RGD:8554872 IAGP RGD:714240709 H MAX dimerization protein 4 gene taxon:9606 20260519 ClinVar RGD 1312919 MXD4 HP:0012126 RGD:8554872 IAGP RGD:713771941 H MAX dimerization protein 4 gene taxon:9606 20260519 ClinVar RGD 1312919 MXD4 HP:0100522 RGD:8554872 IAGP RGD:714240702 H MAX dimerization protein 4 gene taxon:9606 20260519 ClinVar RGD 1312935 SCEL HP:0011797 RGD:8554872 IAGP RGD:713660770 H sciellin gene taxon:9606 20260519 ClinVar RGD 1312935 SCEL HP:0012126 RGD:8554872 IAGP RGD:713806100 H sciellin gene taxon:9606 20260519 ClinVar RGD 1312935 SCEL HP:0030359 RGD:8554872 IAGP RGD:713883174 H sciellin gene taxon:9606 20260519 ClinVar RGD 1312935 SCEL HP:0030359 RGD:8554872 IAGP RGD:713883189 H sciellin gene taxon:9606 20260519 ClinVar RGD 1312935 SCEL HP:0100242 RGD:8554872 IAGP RGD:713806148 H sciellin gene taxon:9606 20260519 ClinVar RGD 1312935 SCEL HP:0100242 RGD:8554872 IAGP RGD:713806179 H sciellin gene taxon:9606 20260519 ClinVar RGD 1312935 SCEL HP:0100522 RGD:8554872 IAGP RGD:713806113 H sciellin gene taxon:9606 20260519 ClinVar RGD 1312935 SCEL HP:0100526 RGD:8554872 IAGP RGD:713882882 H sciellin gene taxon:9606 20260519 ClinVar RGD 1312935 SCEL HP:0100526 RGD:8554872 IAGP RGD:713882895 H sciellin gene taxon:9606 20260519 ClinVar RGD 1312935 SCEL HP:0100526 RGD:8554872 IAGP RGD:713882938 H sciellin gene taxon:9606 20260519 ClinVar RGD 1312935 SCEL HP:0100526 RGD:8554872 IAGP RGD:713883134 H sciellin gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0000252 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713429888 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0000252 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713431543 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0000717 PMID:21681106|PMID:30208311|RGD:8554872 IAGP RGD:14351958 H CUB and Sushi multiple domains 1 gene taxon:9606 20211207 ClinVar RGD 1312937 CSMD1 HP:0000717 PMID:21681106|PMID:30208311|RGD:8554872 IAGP RGD:14351960 H CUB and Sushi multiple domains 1 gene taxon:9606 20211207 ClinVar RGD 1312937 CSMD1 HP:0000717 PMID:21681106|PMID:30208311|RGD:8554872 IAGP RGD:14352181 H CUB and Sushi multiple domains 1 gene taxon:9606 20211207 ClinVar RGD 1312937 CSMD1 HP:0000718 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713429888 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0000718 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713431543 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0000729 PMID:25741868|PMID:27569545|RGD:8554872 IAGP RGD:11345408 H CUB and Sushi multiple domains 1 gene taxon:9606 20210323 ClinVar RGD 1312937 CSMD1 HP:0000729 PMID:25741868|PMID:27569545|RGD:8554872 IAGP RGD:11345415 H CUB and Sushi multiple domains 1 gene taxon:9606 20250729 ClinVar RGD 1312937 CSMD1 HP:0000729 PMID:25741868|PMID:27569545|RGD:8554872 IAGP RGD:11345439 H CUB and Sushi multiple domains 1 gene taxon:9606 20210323 ClinVar RGD 1312937 CSMD1 HP:0000729 PMID:25741868|PMID:27569545|RGD:8554872 IAGP RGD:11345463 H CUB and Sushi multiple domains 1 gene taxon:9606 20210323 ClinVar RGD 1312937 CSMD1 HP:0000729 RGD:8554872 IAGP RGD:42723319 H CUB and Sushi multiple domains 1 gene taxon:9606 20260602 ClinVar RGD 1312937 CSMD1 HP:0001250 RGD:8554872 IAGP RGD:11049703 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0001263 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713429888 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0001263 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713431543 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0001285 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713429888 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0001285 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713431543 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0001288 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713429888 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0001288 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713431543 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0001402 RGD:8554872 IAGP RGD:714085937 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0001402 RGD:8554872 IAGP RGD:714085946 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0001831 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713429888 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0001831 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713431543 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0001852 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713429888 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0001852 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713431543 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0002384 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713429888 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0002384 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713431543 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0002465 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713429888 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0002465 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713431543 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0002500 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713429888 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0002500 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713431543 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0002650 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713429888 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0002650 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713431543 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0002665 RGD:8554872 IAGP RGD:713500310 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0002861 RGD:8554872 IAGP RGD:714048716 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0004808 RGD:8554872 IAGP RGD:713500128 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0006770 RGD:8554872 IAGP RGD:714048551 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0006770 RGD:8554872 IAGP RGD:714051181 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0010864 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713429888 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0010864 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713431543 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0012126 PMID:28492532|RGD:8554872 IAGP RGD:15149457 H CUB and Sushi multiple domains 1 gene taxon:9606 20260707 ClinVar RGD 1312937 CSMD1 HP:0012126 RGD:8554872 IAGP RGD:713674534 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0012126 RGD:8554872 IAGP RGD:713674783 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0030153 RGD:8554872 IAGP RGD:714048739 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0030153 RGD:8554872 IAGP RGD:714049087 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0030153 RGD:8554872 IAGP RGD:714049281 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0030153 RGD:8554872 IAGP RGD:714049315 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0030359 RGD:8554872 IAGP RGD:714048627 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0030359 RGD:8554872 IAGP RGD:714049634 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0032807 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713429888 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0032807 PMID:25741868|PMID:38816421|RGD:8554872 IAGP RGD:713431543 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0100242 RGD:8554872 IAGP RGD:713612443 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0100242 RGD:8554872 IAGP RGD:714049297 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0100522 RGD:8554872 IAGP RGD:714085937 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0100526 RGD:8554872 IAGP RGD:714048186 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0100526 RGD:8554872 IAGP RGD:714049315 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0100526 RGD:8554872 IAGP RGD:714049441 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0100526 RGD:8554872 IAGP RGD:714049642 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0100615 RGD:8554872 IAGP RGD:713494111 H CUB and Sushi multiple domains 1 gene taxon:9606 20260519 ClinVar RGD 1312937 CSMD1 HP:0100753 PMID:21681106|PMID:30208311|RGD:8554872 IAGP RGD:14352388 H CUB and Sushi multiple domains 1 gene taxon:9606 20210323 ClinVar RGD 1312937 CSMD1 HP:0100753 PMID:21681106|PMID:30208311|RGD:8554872 IAGP RGD:14352389 H CUB and Sushi multiple domains 1 gene taxon:9606 20210323 ClinVar RGD 1312937 CSMD1 HP:0100753 PMID:21681106|PMID:30208311|RGD:8554872 IAGP RGD:14352391 H CUB and Sushi multiple domains 1 gene taxon:9606 20210323 ClinVar RGD 1312937 CSMD1 HP:0100753 RGD:8554872 IAGP RGD:12791545 H CUB and Sushi multiple domains 1 gene taxon:9606 20210323 ClinVar RGD 1312937 CSMD1 HP:0100753 RGD:8554872 IAGP RGD:12791599 H CUB and Sushi multiple domains 1 gene taxon:9606 20210323 ClinVar RGD 1312937 CSMD1 HP:0100753 RGD:8554872 IAGP RGD:12791636 H CUB and Sushi multiple domains 1 gene taxon:9606 20210323 ClinVar RGD 1312939 ANKRD2 HP:0100522 RGD:8554872 IAGP RGD:713399115 H ankyrin repeat domain 2 gene taxon:9606 20260519 ClinVar RGD 1312941 SMYD1 HP:0012126 RGD:8554872 IAGP RGD:713523461 H SET and MYND domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1312941 SMYD1 HP:0100526 RGD:8554872 IAGP RGD:713681099 H SET and MYND domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1312942 CIDEA HP:0001402 RGD:8554872 IAGP RGD:714184469 H cell death inducing DFFA like effector a gene taxon:9606 20260519 ClinVar RGD 1312942 CIDEA HP:0012126 RGD:8554872 IAGP RGD:714268609 H cell death inducing DFFA like effector a gene taxon:9606 20260519 ClinVar RGD 1312944 SRPK2 HP:0001402 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15129652 H SRSF protein kinase 2 gene taxon:9606 20260707 ClinVar RGD 1312944 SRPK2 HP:0002861 RGD:8554872 IAGP RGD:713504653 H SRSF protein kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312944 SRPK2 HP:0012126 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15129652 H SRSF protein kinase 2 gene taxon:9606 20260707 ClinVar RGD 1312944 SRPK2 HP:0100242 RGD:8554872 IAGP RGD:713504565 H SRSF protein kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312944 SRPK2 HP:0100615 RGD:8554872 IAGP RGD:713504677 H SRSF protein kinase 2 gene taxon:9606 20260519 ClinVar RGD 1312947 STOM HP:0002665 RGD:8554872 IAGP RGD:713505522 H stomatin gene taxon:9606 20260519 ClinVar RGD 1312947 STOM HP:0002861 RGD:8554872 IAGP RGD:713496052 H stomatin gene taxon:9606 20260519 ClinVar RGD 1312947 STOM HP:0002861 RGD:8554872 IAGP RGD:713496075 H stomatin gene taxon:9606 20260519 ClinVar RGD 1312947 STOM HP:0002861 RGD:8554872 IAGP RGD:713496099 H stomatin gene taxon:9606 20260519 ClinVar RGD 1312947 STOM HP:0004808 RGD:8554872 IAGP RGD:714256281 H stomatin gene taxon:9606 20260519 ClinVar RGD 1312947 STOM HP:0006770 RGD:8554872 IAGP RGD:713496174 H stomatin gene taxon:9606 20260519 ClinVar RGD 1312947 STOM HP:0006770 RGD:8554872 IAGP RGD:713505522 H stomatin gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0000501 PMID:25741868|RGD:8554872 IAGP RGD:243063759 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20230606 ClinVar RGD 1312950 ARHGEF12 HP:0001402 RGD:8554872 IAGP RGD:714091466 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0001402 RGD:8554872 IAGP RGD:714157504 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0002861 RGD:8554872 IAGP RGD:714218632 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0002861 RGD:8554872 IAGP RGD:714218667 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0003003 RGD:8554872 IAGP RGD:713817392 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0004808 RGD:8554872 IAGP RGD:713735037 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0004808 RGD:8554872 IAGP RGD:713735057 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0006725 RGD:8554872 IAGP RGD:714218689 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0006725 RGD:8554872 IAGP RGD:714218695 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0006770 RGD:8554872 IAGP RGD:714218547 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0006770 RGD:8554872 IAGP RGD:714218619 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0006770 RGD:8554872 IAGP RGD:714218712 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0012126 RGD:8554872 IAGP RGD:713985081 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0012126 RGD:8554872 IAGP RGD:714015543 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0012126 RGD:8554872 IAGP RGD:714015587 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0100242 RGD:8554872 IAGP RGD:714015600 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0100242 RGD:8554872 IAGP RGD:714218661 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0100526 RGD:8554872 IAGP RGD:714015613 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260707 ClinVar RGD 1312950 ARHGEF12 HP:0100526 RGD:8554872 IAGP RGD:714218594 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0100526 RGD:8554872 IAGP RGD:714218646 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0100526 RGD:8554872 IAGP RGD:714218679 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312950 ARHGEF12 HP:0100526 RGD:8554872 IAGP RGD:714218683 H Rho guanine nucleotide exchange factor 12 gene taxon:9606 20260519 ClinVar RGD 1312953 NUBP2 HP:0006770 RGD:8554872 IAGP RGD:714038467 H NUBP iron-sulfur cluster assembly factor 2, cytosolic gene taxon:9606 20260519 ClinVar RGD 1312953 NUBP2 HP:0030153 RGD:8554872 IAGP RGD:714038499 H NUBP iron-sulfur cluster assembly factor 2, cytosolic gene taxon:9606 20260519 ClinVar RGD 1312953 NUBP2 HP:0030359 RGD:8554872 IAGP RGD:714038418 H NUBP iron-sulfur cluster assembly factor 2, cytosolic gene taxon:9606 20260519 ClinVar RGD 1312953 NUBP2 HP:0100522 RGD:8554872 IAGP RGD:714038425 H NUBP iron-sulfur cluster assembly factor 2, cytosolic gene taxon:9606 20260519 ClinVar RGD 1312953 NUBP2 HP:0100526 RGD:8554872 IAGP RGD:714038508 H NUBP iron-sulfur cluster assembly factor 2, cytosolic gene taxon:9606 20260519 ClinVar RGD 1312955 MOB1B HP:0004808 RGD:8554872 IAGP RGD:713461577 H MOB kinase activator 1B gene taxon:9606 20260519 ClinVar RGD 1312955 MOB1B HP:0004808 RGD:8554872 IAGP RGD:713461593 H MOB kinase activator 1B gene taxon:9606 20260519 ClinVar RGD 1312955 MOB1B HP:0012126 RGD:8554872 IAGP RGD:713776049 H MOB kinase activator 1B gene taxon:9606 20260519 ClinVar RGD 1312955 MOB1B HP:0030359 RGD:8554872 IAGP RGD:714193209 H MOB kinase activator 1B gene taxon:9606 20260519 ClinVar RGD 1312955 MOB1B HP:0100242 RGD:8554872 IAGP RGD:713776059 H MOB kinase activator 1B gene taxon:9606 20260519 ClinVar RGD 1312955 MOB1B HP:0100242 RGD:8554872 IAGP RGD:714193185 H MOB kinase activator 1B gene taxon:9606 20260519 ClinVar RGD 1312955 MOB1B HP:0100522 RGD:8554872 IAGP RGD:714193204 H MOB kinase activator 1B gene taxon:9606 20260519 ClinVar RGD 1312955 MOB1B HP:0100526 RGD:8554872 IAGP RGD:714193200 H MOB kinase activator 1B gene taxon:9606 20260519 ClinVar RGD 1312960 JPT2 HP:0001402 RGD:8554872 IAGP RGD:713355410 H Jupiter microtubule associated homolog 2 gene taxon:9606 20260519 ClinVar RGD 1312960 JPT2 HP:0007716 RGD:8554872 IAGP RGD:713794751 H Jupiter microtubule associated homolog 2 gene taxon:9606 20260519 ClinVar RGD 1312960 JPT2 HP:0011797 RGD:8554872 IAGP RGD:713630673 H Jupiter microtubule associated homolog 2 gene taxon:9606 20260519 ClinVar RGD 1312960 JPT2 HP:0030359 RGD:8554872 IAGP RGD:714037908 H Jupiter microtubule associated homolog 2 gene taxon:9606 20260519 ClinVar RGD 1312967 ITPK1 HP:0001402 RGD:8554872 IAGP RGD:713354024 H inositol-tetrakisphosphate 1-kinase gene taxon:9606 20260519 ClinVar RGD 1312967 ITPK1 HP:0002861 RGD:8554872 IAGP RGD:713547182 H inositol-tetrakisphosphate 1-kinase gene taxon:9606 20260519 ClinVar RGD 1312967 ITPK1 HP:0004808 RGD:8554872 IAGP RGD:713549844 H inositol-tetrakisphosphate 1-kinase gene taxon:9606 20260519 ClinVar RGD 1312967 ITPK1 HP:0004808 RGD:8554872 IAGP RGD:714162708 H inositol-tetrakisphosphate 1-kinase gene taxon:9606 20260519 ClinVar RGD 1312967 ITPK1 HP:0006725 RGD:8554872 IAGP RGD:713547175 H inositol-tetrakisphosphate 1-kinase gene taxon:9606 20260519 ClinVar RGD 1312967 ITPK1 HP:0006770 RGD:8554872 IAGP RGD:713547154 H inositol-tetrakisphosphate 1-kinase gene taxon:9606 20260519 ClinVar RGD 1312967 ITPK1 HP:0006770 RGD:8554872 IAGP RGD:713547165 H inositol-tetrakisphosphate 1-kinase gene taxon:9606 20260519 ClinVar RGD 1312967 ITPK1 HP:0006770 RGD:8554872 IAGP RGD:713547211 H inositol-tetrakisphosphate 1-kinase gene taxon:9606 20260519 ClinVar RGD 1312967 ITPK1 HP:0006770 RGD:8554872 IAGP RGD:713547218 H inositol-tetrakisphosphate 1-kinase gene taxon:9606 20260519 ClinVar RGD 1312967 ITPK1 HP:0006770 RGD:8554872 IAGP RGD:713547229 H inositol-tetrakisphosphate 1-kinase gene taxon:9606 20260519 ClinVar RGD 1312967 ITPK1 HP:0011797 RGD:8554872 IAGP RGD:713554350 H inositol-tetrakisphosphate 1-kinase gene taxon:9606 20260519 ClinVar RGD 1312969 TBRG1 HP:0001249 RGD:8554872 IAGP RGD:42723306 H transforming growth factor beta regulator 1 gene taxon:9606 20260602 ClinVar RGD 1312969 TBRG1 HP:0004808 RGD:8554872 IAGP RGD:713741343 H transforming growth factor beta regulator 1 gene taxon:9606 20260519 ClinVar RGD 1312971 CILP HP:0002757 PMID:25741868|RGD:8554872 IAGP RGD:38460607 H cartilage intermediate layer protein gene taxon:9606 20260519 ClinVar RGD 1312971 CILP HP:0003549 PMID:25741868|RGD:8554872 IAGP RGD:38460607 H cartilage intermediate layer protein gene taxon:9606 20260519 ClinVar RGD 1312971 CILP HP:0012126 RGD:8554872 IAGP RGD:713959443 H cartilage intermediate layer protein gene taxon:9606 20260519 ClinVar RGD 1312971 CILP HP:0100324 PMID:25741868|RGD:8554872 IAGP RGD:38460607 H cartilage intermediate layer protein gene taxon:9606 20260519 ClinVar RGD 1312973 ATL2 HP:0002861 RGD:8554872 IAGP RGD:713773393 H atlastin GTPase 2 gene taxon:9606 20260519 ClinVar RGD 1312973 ATL2 HP:0004808 RGD:8554872 IAGP RGD:713789380 H atlastin GTPase 2 gene taxon:9606 20260519 ClinVar RGD 1312973 ATL2 HP:0006770 RGD:8554872 IAGP RGD:713773533 H atlastin GTPase 2 gene taxon:9606 20260519 ClinVar RGD 1312973 ATL2 HP:0011797 RGD:8554872 IAGP RGD:714040694 H atlastin GTPase 2 gene taxon:9606 20260519 ClinVar RGD 1312973 ATL2 HP:0012126 RGD:8554872 IAGP RGD:713795019 H atlastin GTPase 2 gene taxon:9606 20260519 ClinVar RGD 1312973 ATL2 HP:0100242 RGD:8554872 IAGP RGD:713773378 H atlastin GTPase 2 gene taxon:9606 20260519 ClinVar RGD 1312973 ATL2 HP:0100242 RGD:8554872 IAGP RGD:713773425 H atlastin GTPase 2 gene taxon:9606 20260519 ClinVar RGD 1312973 ATL2 HP:0100242 RGD:8554872 IAGP RGD:713773572 H atlastin GTPase 2 gene taxon:9606 20260519 ClinVar RGD 1312973 ATL2 HP:0100242 RGD:8554872 IAGP RGD:713773597 H atlastin GTPase 2 gene taxon:9606 20260519 ClinVar RGD 1312973 ATL2 HP:0100522 RGD:8554872 IAGP RGD:713773425 H atlastin GTPase 2 gene taxon:9606 20260519 ClinVar RGD 1312973 ATL2 HP:0100526 RGD:8554872 IAGP RGD:713773548 H atlastin GTPase 2 gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0000006 MIM:135700|PMID:14595441|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20250912 HPO RGD 1312975 KIF21A HP:0000021 RGD:8554872 IAGP RGD:405853629 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0000028 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000044 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000175 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000278 RGD:8554872 IAGP RGD:405853629 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0000316 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000347 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000358 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000473 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000476 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000486 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000486 RGD:8554872 IAGP RGD:13211536 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0000496 PMID:14595441|PMID:15621876|PMID:24656932|PMID:25741868|RGD:8554872 IAGP RGD:8556812 H kinesin family member 21A gene taxon:9606 20260707 ClinVar RGD 1312975 KIF21A HP:0000496 PMID:25741868|RGD:8554872 IAGP RGD:8556813 H kinesin family member 21A gene taxon:9606 20260602 ClinVar RGD 1312975 KIF21A HP:0000508 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000512 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000518 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000539 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000542 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000565 MIM:135700|ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20250416 HPO RGD 1312975 KIF21A HP:0000577 MIM:135700|ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20250416 HPO RGD 1312975 KIF21A HP:0000609 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000616 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000646 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:401720048 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:8634656 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0000787 RGD:8554872 IAGP RGD:13211536 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0000939 RGD:8554872 IAGP RGD:13211536 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0001059 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0001249 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0001252 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:401720048 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:8634656 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0001252 RGD:8554872 IAGP RGD:13211536 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0001262 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0001263 RGD:8554872 IAGP RGD:13211536 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0001305 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0001321 RGD:8554872 IAGP RGD:405853629 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0001357 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0001402 PMID:25741868|RGD:8554872 IAGP RGD:11625705 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0001477 MIM:135700|ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20250416 HPO RGD 1312975 KIF21A HP:0001488 MIM:135700|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0001488 PMID:14595441|PMID:15621876|PMID:24656932|PMID:25741868|RGD:8554872 IAGP RGD:8556812 H kinesin family member 21A gene taxon:9606 20260707 ClinVar RGD 1312975 KIF21A HP:0001491 MIM:135700|ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20250416 HPO RGD 1312975 KIF21A HP:0001491 PMID:25741868|RGD:8554872 IAGP RGD:11621751 H kinesin family member 21A gene taxon:9606 20250506 ClinVar RGD 1312975 KIF21A HP:0001491 PMID:25741868|RGD:8554872 IAGP RGD:155959963 H kinesin family member 21A gene taxon:9606 20250506 ClinVar RGD 1312975 KIF21A HP:0001491 PMID:25741868|RGD:8554872 IAGP RGD:155971400 H kinesin family member 21A gene taxon:9606 20240109 ClinVar RGD 1312975 KIF21A HP:0001491 PMID:28492532|RGD:8554872 IAGP RGD:15109851 H kinesin family member 21A gene taxon:9606 20241112 ClinVar RGD 1312975 KIF21A HP:0001491 PMID:28492532|RGD:8554872 IAGP RGD:15114474 H kinesin family member 21A gene taxon:9606 20241112 ClinVar RGD 1312975 KIF21A HP:0001491 RGD:8554872 IAGP RGD:10766796 H kinesin family member 21A gene taxon:9606 20210323 ClinVar RGD 1312975 KIF21A HP:0001491 RGD:8554872 IAGP RGD:11607418 H kinesin family member 21A gene taxon:9606 20210323 ClinVar RGD 1312975 KIF21A HP:0001491 RGD:8554872 IAGP RGD:11647462 H kinesin family member 21A gene taxon:9606 20210323 ClinVar RGD 1312975 KIF21A HP:0001491 RGD:8554872 IAGP RGD:11650124 H kinesin family member 21A gene taxon:9606 20210323 ClinVar RGD 1312975 KIF21A HP:0001491 RGD:8554872 IAGP RGD:14693497 H kinesin family member 21A gene taxon:9606 20210323 ClinVar RGD 1312975 KIF21A HP:0001491 RGD:8554872 IAGP RGD:14693498 H kinesin family member 21A gene taxon:9606 20210323 ClinVar RGD 1312975 KIF21A HP:0001491 RGD:8554872 IAGP RGD:14693499 H kinesin family member 21A gene taxon:9606 20210323 ClinVar RGD 1312975 KIF21A HP:0001511 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0001511 RGD:8554872 IAGP RGD:405853629 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0001561 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0001762 RGD:8554872 IAGP RGD:405853629 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0001989 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:401720048 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:8634656 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0002013 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0002089 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0002093 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0002099 RGD:8554872 IAGP RGD:13211536 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0002126 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0002150 RGD:8554872 IAGP RGD:13211536 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0002194 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0002304 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0002375 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0002540 PMID:25741868|RGD:8554872 IAGP RGD:401720048 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0002540 PMID:25741868|RGD:8554872 IAGP RGD:8634656 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0002572 RGD:8554872 IAGP RGD:13211536 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0002650 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0002804 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0002828 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0002857 RGD:8554872 IAGP RGD:405853629 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0002861 RGD:8554872 IAGP RGD:28910998 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0002861 RGD:8554872 IAGP RGD:713849286 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0002861 RGD:8554872 IAGP RGD:713849506 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0002861 RGD:8554872 IAGP RGD:713849663 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0003003 RGD:8554872 IAGP RGD:713849372 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0003700 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0004808 RGD:8554872 IAGP RGD:714045071 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0004808 RGD:8554872 IAGP RGD:714045082 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0005245 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0005257 RGD:8554872 IAGP RGD:405853629 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0005280 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0006528 RGD:8554872 IAGP RGD:13211536 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0006770 RGD:8554872 IAGP RGD:28910998 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0006770 RGD:8554872 IAGP RGD:713849462 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0007133 RGD:8554872 IAGP RGD:13211536 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0007831 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0007936 MIM:135700|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0007970 PMID:14595441|PMID:15621876|PMID:24656932|PMID:25741868|RGD:8554872 IAGP RGD:8556812 H kinesin family member 21A gene taxon:9606 20260707 ClinVar RGD 1312975 KIF21A HP:0008527 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0009380 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20240208 HPO RGD 1312975 KIF21A HP:0009916 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0010489 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0011343 PMID:14595441|PMID:15621876|PMID:24656932|PMID:25741868|RGD:8554872 IAGP RGD:8556812 H kinesin family member 21A gene taxon:9606 20260707 ClinVar RGD 1312975 KIF21A HP:0011347 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0011797 RGD:8554872 IAGP RGD:28910998 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0011797 RGD:8554872 IAGP RGD:714042470 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0011797 RGD:8554872 IAGP RGD:714042477 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0011797 RGD:8554872 IAGP RGD:714045092 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0011968 RGD:8554872 IAGP RGD:13211536 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0012126 RGD:8554872 IAGP RGD:713624128 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0012126 RGD:8554872 IAGP RGD:713624131 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0012126 RGD:8554872 IAGP RGD:713624142 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0012126 RGD:8554872 IAGP RGD:713624152 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0012241 MIM:135700|ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20250416 HPO RGD 1312975 KIF21A HP:0012242 MIM:135700|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0012547 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0012795 PMID:14595441|PMID:15621876|PMID:24656932|PMID:25741868|RGD:8554872 IAGP RGD:8556812 H kinesin family member 21A gene taxon:9606 20260707 ClinVar RGD 1312975 KIF21A HP:0025186 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0025309 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0025672 RGD:8554872 IAGP RGD:405853629 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0025721 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0030153 RGD:8554872 IAGP RGD:713849599 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0030211 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0030359 RGD:8554872 IAGP RGD:713849269 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0030534 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0030588 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0031721 MIM:135700|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0031723 MIM:135700|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0032466 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0033044 RGD:8554872 IAGP RGD:13211536 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0033454 RGD:8554872 IAGP RGD:13211536 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0100242 RGD:8554872 IAGP RGD:714042458 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0100490 ORPHA:994|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20230821 HPO RGD 1312975 KIF21A HP:0100522 RGD:8554872 IAGP RGD:713849554 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0100522 RGD:8554872 IAGP RGD:713849684 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0100522 RGD:8554872 IAGP RGD:714039431 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0100526 RGD:8554872 IAGP RGD:713849626 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:0100526 RGD:8554872 IAGP RGD:713849706 H kinesin family member 21A gene taxon:9606 20260519 ClinVar RGD 1312975 KIF21A HP:6000709 ORPHA:45358|RGD:8699517 IAGP H kinesin family member 21A gene taxon:9606 20250814 HPO RGD 1312978 POLG2 HP:0000006 MIM:610131|PMID:16685652|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0000007 MIM:618528|MIM:619425|PMID:27592148|PMID:31778857|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0000017 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0000141 MIM:619425|PMID:31778857|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0000338 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0000365 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0000463 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0000496 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0000505 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0000508 MIM:610131|ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250416 HPO RGD 1312978 POLG2 HP:0000518 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0000544 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0000572 MIM:619425|PMID:31778857|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0000590 MIM:610131|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0000597 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0000602 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0000648 MIM:619425|PMID:31778857|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0000716 MIM:619425|ORPHA:254892|PMID:31778857|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0000739 MIM:619425|ORPHA:254892|PMID:31778857|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0000819 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0000821 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0000836 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0000853 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0000939 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0000952 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0000969 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0001250 MIM:610131|ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250416 HPO RGD 1312978 POLG2 HP:0001251 MIM:619425|ORPHA:254892|PMID:31778857|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0001252 MIM:610131|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0001254 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0001260 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0001263 MIM:610131|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0001265 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0001272 MIM:610131|MIM:619425|ORPHA:254892|PMID:31778857|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0001276 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0001288 MIM:619425|ORPHA:254892|PMID:31778857|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0001290 MIM:610131|ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250416 HPO RGD 1312978 POLG2 HP:0001337 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0001349 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0001392 MIM:610131|ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250416 HPO RGD 1312978 POLG2 HP:0001396 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0001414 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0001508 MIM:610131|ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250416 HPO RGD 1312978 POLG2 HP:0001644 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0001712 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0001942 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0001946 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0001952 MIM:610131|ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250416 HPO RGD 1312978 POLG2 HP:0001962 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0002015 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:714283039 H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20260519 ClinVar RGD 1312978 POLG2 HP:0002019 MIM:610131|ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250416 HPO RGD 1312978 POLG2 HP:0002020 MIM:610131|ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250416 HPO RGD 1312978 POLG2 HP:0002063 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0002066 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0002067 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0002071 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0002076 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0002079 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0002093 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0002120 MIM:619425|PMID:31778857|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0002151 MIM:610131|MIM:618528|ORPHA:254892|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0002153 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0002240 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0002315 MIM:619425|PMID:31778857|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0002322 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0002359 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0002375 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0002396 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0002578 MIM:610131|ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250416 HPO RGD 1312978 POLG2 HP:0002875 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0002908 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0002910 MIM:610131|ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250416 HPO RGD 1312978 POLG2 HP:0003073 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0003198 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0003200 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0003236 MIM:610131|ORPHA:254892|PMID:16685652|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0003270 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0003323 MIM:610131|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0003326 MIM:610131|ORPHA:254892|PMID:16685652|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0003388 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0003394 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0003438 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0003458 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0003477 MIM:619425|ORPHA:254892|PMID:31778857|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0003546 MIM:610131|ORPHA:254892|PMID:16685652|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0003547 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0003551 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0003573 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0003581 MIM:610131|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0003593 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0003676 MIM:610131|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0003688 MIM:610131|ORPHA:254892|PMID:16685652|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0003689 MIM:610131|PMID:16685652|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0003690 MIM:610131|ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250416 HPO RGD 1312978 POLG2 HP:0003731 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0003737 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0004308 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0004448 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0005110 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0005280 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0006581 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0007042 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0007302 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0008209 MIM:619425|PMID:31778857|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0008959 PMID:25741868|RGD:8554872 IAGP RGD:714283039 H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20260519 ClinVar RGD 1312978 POLG2 HP:0008994 PMID:25741868|RGD:8554872 IAGP RGD:714283039 H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20260519 ClinVar RGD 1312978 POLG2 HP:0009141 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0009830 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0010628 MIM:610131|ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250416 HPO RGD 1312978 POLG2 HP:0011675 MIM:610131|ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250416 HPO RGD 1312978 POLG2 HP:0011713 MIM:610131|PMID:16685652|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0012103 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0012108 MIM:619425|PMID:31778857|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0012378 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0012664 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0025710 MIM:610131|PMID:16685652|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0030319 PMID:25741868|RGD:8554872 IAGP RGD:714283039 H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20260519 ClinVar RGD 1312978 POLG2 HP:0031956 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0031964 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0033725 MIM:618528|PMID:27592148|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0034306 MIM:610131|PMID:16685652|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0040270 MIM:610131|PMID:16685652|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250912 HPO RGD 1312978 POLG2 HP:0100543 ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20230821 HPO RGD 1312978 POLG2 HP:0100704 MIM:610131|ORPHA:254892|RGD:8699517 IAGP H DNA polymerase gamma 2, accessory subunit gene taxon:9606 20250416 HPO RGD 1312980 MAMDC2 HP:0003003 RGD:8554872 IAGP RGD:713765249 H MAM domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312980 MAMDC2 HP:0012125 RGD:8554872 IAGP RGD:9687139 H MAM domain containing 2 gene taxon:9606 20250708 ClinVar RGD 1312980 MAMDC2 HP:0100522 RGD:8554872 IAGP RGD:714258043 H MAM domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1312982 ZNF18 HP:0001402 RGD:8554872 IAGP RGD:713357348 H zinc finger protein 18 gene taxon:9606 20260519 ClinVar RGD 1312982 ZNF18 HP:0004808 RGD:8554872 IAGP RGD:713672425 H zinc finger protein 18 gene taxon:9606 20260519 ClinVar RGD 1312982 ZNF18 HP:0004808 RGD:8554872 IAGP RGD:713676557 H zinc finger protein 18 gene taxon:9606 20260519 ClinVar RGD 1312982 ZNF18 HP:0006770 RGD:8554872 IAGP RGD:713824487 H zinc finger protein 18 gene taxon:9606 20260519 ClinVar RGD 1312982 ZNF18 HP:0030153 RGD:8554872 IAGP RGD:713782499 H zinc finger protein 18 gene taxon:9606 20260519 ClinVar RGD 1312982 ZNF18 HP:0030359 RGD:8554872 IAGP RGD:714002748 H zinc finger protein 18 gene taxon:9606 20260519 ClinVar RGD 1312982 ZNF18 HP:0100242 RGD:8554872 IAGP RGD:713782499 H zinc finger protein 18 gene taxon:9606 20260519 ClinVar RGD 1312982 ZNF18 HP:0100242 RGD:8554872 IAGP RGD:713824487 H zinc finger protein 18 gene taxon:9606 20260519 ClinVar RGD 1312982 ZNF18 HP:0100242 RGD:8554872 IAGP RGD:714134639 H zinc finger protein 18 gene taxon:9606 20260519 ClinVar RGD 1312982 ZNF18 HP:0100522 RGD:8554872 IAGP RGD:714002729 H zinc finger protein 18 gene taxon:9606 20260519 ClinVar RGD 1312984 TWF2 HP:0004808 RGD:8554872 IAGP RGD:713579481 H twinfilin actin binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312984 TWF2 HP:0004808 RGD:8554872 IAGP RGD:713736140 H twinfilin actin binding protein 2 gene taxon:9606 20260707 ClinVar RGD 1312984 TWF2 HP:0011797 RGD:8554872 IAGP RGD:713444981 H twinfilin actin binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1312984 TWF2 HP:0012126 RGD:8554872 IAGP RGD:713579481 H twinfilin actin binding protein 2 gene taxon:9606 20260707 ClinVar RGD 1312984 TWF2 HP:0100526 RGD:8554872 IAGP RGD:713579481 H twinfilin actin binding protein 2 gene taxon:9606 20260707 ClinVar RGD 1312988 SLC25A28 HP:0002861 RGD:8554872 IAGP RGD:713780186 H solute carrier family 25 member 28 gene taxon:9606 20260519 ClinVar RGD 1312988 SLC25A28 HP:0100242 RGD:8554872 IAGP RGD:713780209 H solute carrier family 25 member 28 gene taxon:9606 20260519 ClinVar RGD 1312992 GALNT15 HP:0001402 RGD:8554872 IAGP RGD:713749439 H polypeptide N-acetylgalactosaminyltransferase 15 gene taxon:9606 20260519 ClinVar RGD 1312992 GALNT15 HP:0002861 RGD:8554872 IAGP RGD:713827851 H polypeptide N-acetylgalactosaminyltransferase 15 gene taxon:9606 20260519 ClinVar RGD 1312992 GALNT15 HP:0006770 RGD:8554872 IAGP RGD:714115385 H polypeptide N-acetylgalactosaminyltransferase 15 gene taxon:9606 20260519 ClinVar RGD 1312992 GALNT15 HP:0030153 RGD:8554872 IAGP RGD:713827927 H polypeptide N-acetylgalactosaminyltransferase 15 gene taxon:9606 20260519 ClinVar RGD 1312992 GALNT15 HP:0100242 RGD:8554872 IAGP RGD:713827871 H polypeptide N-acetylgalactosaminyltransferase 15 gene taxon:9606 20260519 ClinVar RGD 1312992 GALNT15 HP:0100522 RGD:8554872 IAGP RGD:713827830 H polypeptide N-acetylgalactosaminyltransferase 15 gene taxon:9606 20260519 ClinVar RGD 1312996 ZNF281 HP:0100242 RGD:8554872 IAGP RGD:713989375 H zinc finger protein 281 gene taxon:9606 20260519 ClinVar RGD 1312996 ZNF281 HP:0100522 RGD:8554872 IAGP RGD:713989375 H zinc finger protein 281 gene taxon:9606 20260519 ClinVar RGD 1312996 ZNF281 HP:0100526 RGD:8554872 IAGP RGD:713989375 H zinc finger protein 281 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0001402 RGD:8554872 IAGP RGD:713355584 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0002861 RGD:8554872 IAGP RGD:713794368 H transducin beta like 3 gene taxon:9606 20260707 ClinVar RGD 1313000 TBL3 HP:0002861 RGD:8554872 IAGP RGD:714040337 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0002861 RGD:8554872 IAGP RGD:714040416 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0003003 RGD:8554872 IAGP RGD:714040524 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0004808 RGD:8554872 IAGP RGD:713632647 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0006770 RGD:8554872 IAGP RGD:714040382 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0006770 RGD:8554872 IAGP RGD:714040427 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0007716 RGD:8554872 IAGP RGD:713619217 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0011797 RGD:8554872 IAGP RGD:713632657 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0012126 RGD:8554872 IAGP RGD:713630801 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0012126 RGD:8554872 IAGP RGD:713961620 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0030153 RGD:8554872 IAGP RGD:713619217 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0030153 RGD:8554872 IAGP RGD:713795488 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0030153 RGD:8554872 IAGP RGD:714040427 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0030153 RGD:8554872 IAGP RGD:714040481 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0030153 RGD:8554872 IAGP RGD:714040491 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0100242 RGD:8554872 IAGP RGD:714040392 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0100522 RGD:8554872 IAGP RGD:713619217 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0100522 RGD:8554872 IAGP RGD:714040364 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313000 TBL3 HP:0100522 RGD:8554872 IAGP RGD:714040427 H transducin beta like 3 gene taxon:9606 20260519 ClinVar RGD 1313003 RPS6KB2 HP:0001402 RGD:8554872 IAGP RGD:713350202 H ribosomal protein S6 kinase B2 gene taxon:9606 20260519 ClinVar RGD 1313003 RPS6KB2 HP:0002861 RGD:8554872 IAGP RGD:713386682 H ribosomal protein S6 kinase B2 gene taxon:9606 20260519 ClinVar RGD 1313003 RPS6KB2 HP:0012126 RGD:8554872 IAGP RGD:714024330 H ribosomal protein S6 kinase B2 gene taxon:9606 20260519 ClinVar RGD 1313003 RPS6KB2 HP:0012126 RGD:8554872 IAGP RGD:714024359 H ribosomal protein S6 kinase B2 gene taxon:9606 20260519 ClinVar RGD 1313003 RPS6KB2 HP:0012126 RGD:8554872 IAGP RGD:714101302 H ribosomal protein S6 kinase B2 gene taxon:9606 20260519 ClinVar RGD 1313003 RPS6KB2 HP:0100242 RGD:8554872 IAGP RGD:714097391 H ribosomal protein S6 kinase B2 gene taxon:9606 20260519 ClinVar RGD 1313009 IL15RA HP:0002861 RGD:8554872 IAGP RGD:713412840 H interleukin 15 receptor subunit alpha gene taxon:9606 20260519 ClinVar RGD 1313009 IL15RA HP:0004808 RGD:8554872 IAGP RGD:713786252 H interleukin 15 receptor subunit alpha gene taxon:9606 20260707 ClinVar RGD 1313009 IL15RA HP:0012126 RGD:8554872 IAGP RGD:713744479 H interleukin 15 receptor subunit alpha gene taxon:9606 20260519 ClinVar RGD 1313009 IL15RA HP:0100242 RGD:8554872 IAGP RGD:713786252 H interleukin 15 receptor subunit alpha gene taxon:9606 20260519 ClinVar RGD 1313009 IL15RA HP:0100522 RGD:8554872 IAGP RGD:713786252 H interleukin 15 receptor subunit alpha gene taxon:9606 20260707 ClinVar RGD 1313009 IL15RA HP:0100522 RGD:8554872 IAGP RGD:714090457 H interleukin 15 receptor subunit alpha gene taxon:9606 20260519 ClinVar RGD 1313009 IL15RA HP:0100526 RGD:8554872 IAGP RGD:713786252 H interleukin 15 receptor subunit alpha gene taxon:9606 20260707 ClinVar RGD 1313011 CEP43 HP:0001402 RGD:8554872 IAGP RGD:713556642 H centrosomal protein 43 gene taxon:9606 20260707 ClinVar RGD 1313011 CEP43 HP:0001402 RGD:8554872 IAGP RGD:714156176 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0001402 RGD:8554872 IAGP RGD:714157558 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0002861 RGD:8554872 IAGP RGD:714157550 H centrosomal protein 43 gene taxon:9606 20260707 ClinVar RGD 1313011 CEP43 HP:0006770 RGD:8554872 IAGP RGD:714156176 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0006770 RGD:8554872 IAGP RGD:714157558 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0007716 RGD:8554872 IAGP RGD:714012268 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0011797 RGD:8554872 IAGP RGD:713443590 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0012126 RGD:8554872 IAGP RGD:713448324 H centrosomal protein 43 gene taxon:9606 20260707 ClinVar RGD 1313011 CEP43 HP:0012126 RGD:8554872 IAGP RGD:713556627 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0012126 RGD:8554872 IAGP RGD:713556653 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0012126 RGD:8554872 IAGP RGD:713556668 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0012126 RGD:8554872 IAGP RGD:714156176 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0012126 RGD:8554872 IAGP RGD:714157558 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0100242 RGD:8554872 IAGP RGD:713556612 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0100242 RGD:8554872 IAGP RGD:714157558 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0100522 RGD:8554872 IAGP RGD:713556612 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0100526 RGD:8554872 IAGP RGD:713725487 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0100615 RGD:8554872 IAGP RGD:713725655 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0100615 RGD:8554872 IAGP RGD:714156176 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313011 CEP43 HP:0100615 RGD:8554872 IAGP RGD:714157558 H centrosomal protein 43 gene taxon:9606 20260519 ClinVar RGD 1313012 B3GNT3 HP:0100242 RGD:8554872 IAGP RGD:713895310 H UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 gene taxon:9606 20260519 ClinVar RGD 1313012 B3GNT3 HP:0100522 RGD:8554872 IAGP RGD:713895310 H UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 gene taxon:9606 20260519 ClinVar RGD 1313012 B3GNT3 HP:0100526 RGD:8554872 IAGP RGD:713895310 H UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 gene taxon:9606 20260519 ClinVar RGD 1313014 ITGA10 HP:0006770 RGD:8554872 IAGP RGD:714114306 H integrin subunit alpha 10 gene taxon:9606 20260519 ClinVar RGD 1313017 ASB7 HP:0004808 RGD:8554872 IAGP RGD:713554696 H ankyrin repeat and SOCS box containing 7 gene taxon:9606 20260519 ClinVar RGD 1313017 ASB7 HP:0100242 RGD:8554872 IAGP RGD:713957253 H ankyrin repeat and SOCS box containing 7 gene taxon:9606 20260519 ClinVar RGD 1313018 ADAMTSL3 HP:0002860 PMID:27993330|RGD:8554872 IAGP RGD:243053668 H ADAMTS like 3 gene taxon:9606 20230411 ClinVar RGD 1313018 ADAMTSL3 HP:0002860 PMID:27993330|RGD:8554872 IAGP RGD:243053669 H ADAMTS like 3 gene taxon:9606 20230411 ClinVar RGD 1313018 ADAMTSL3 HP:0002860 PMID:27993330|RGD:8554872 IAGP RGD:243053695 H ADAMTS like 3 gene taxon:9606 20230411 ClinVar RGD 1313018 ADAMTSL3 HP:0002861 RGD:8554872 IAGP RGD:714023483 H ADAMTS like 3 gene taxon:9606 20260519 ClinVar RGD 1313018 ADAMTSL3 HP:0006770 RGD:8554872 IAGP RGD:714023497 H ADAMTS like 3 gene taxon:9606 20260519 ClinVar RGD 1313018 ADAMTSL3 HP:0006770 RGD:8554872 IAGP RGD:714023558 H ADAMTS like 3 gene taxon:9606 20260519 ClinVar RGD 1313018 ADAMTSL3 HP:0006770 RGD:8554872 IAGP RGD:714023581 H ADAMTS like 3 gene taxon:9606 20260519 ClinVar RGD 1313018 ADAMTSL3 HP:0011797 RGD:8554872 IAGP RGD:713562388 H ADAMTS like 3 gene taxon:9606 20260519 ClinVar RGD 1313018 ADAMTSL3 HP:0012126 RGD:8554872 IAGP RGD:713960353 H ADAMTS like 3 gene taxon:9606 20260519 ClinVar RGD 1313018 ADAMTSL3 HP:0012126 RGD:8554872 IAGP RGD:713960359 H ADAMTS like 3 gene taxon:9606 20260519 ClinVar RGD 1313018 ADAMTSL3 HP:0012126 RGD:8554872 IAGP RGD:713960365 H ADAMTS like 3 gene taxon:9606 20260519 ClinVar RGD 1313018 ADAMTSL3 HP:0030078 PMID:27993330|RGD:8554872 IAGP RGD:243053538 H ADAMTS like 3 gene taxon:9606 20230411 ClinVar RGD 1313018 ADAMTSL3 HP:0030078 PMID:27993330|RGD:8554872 IAGP RGD:243053596 H ADAMTS like 3 gene taxon:9606 20230411 ClinVar RGD 1313018 ADAMTSL3 HP:0030153 RGD:8554872 IAGP RGD:713785731 H ADAMTS like 3 gene taxon:9606 20260519 ClinVar RGD 1313018 ADAMTSL3 HP:0030359 RGD:8554872 IAGP RGD:714023471 H ADAMTS like 3 gene taxon:9606 20260519 ClinVar RGD 1313018 ADAMTSL3 HP:0100242 RGD:8554872 IAGP RGD:714023590 H ADAMTS like 3 gene taxon:9606 20260519 ClinVar RGD 1313018 ADAMTSL3 HP:0100526 RGD:8554872 IAGP RGD:714023497 H ADAMTS like 3 gene taxon:9606 20260519 ClinVar RGD 1313018 ADAMTSL3 HP:0100526 RGD:8554872 IAGP RGD:714023523 H ADAMTS like 3 gene taxon:9606 20260519 ClinVar RGD 1313022 SMIM8 HP:0003003 RGD:8554872 IAGP RGD:713445812 H small integral membrane protein 8 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0000007 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0000089 MIM:604273|ORPHA:254913|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0000135 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0000154 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0000252 MIM:604273|ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250416 HPO RGD 1313025 ATPAF2 HP:0000252 PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662|RGD:8554872 IAGP RGD:12895150 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:38597099 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20210323 ClinVar RGD 1313025 ATPAF2 HP:0000252 RGD:8554872 IAGP RGD:10411647 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0000278 MIM:604273|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0000347 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0000407 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0000426 MIM:604273|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0000431 PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662|RGD:8554872 IAGP RGD:12895150 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0000463 PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662|RGD:8554872 IAGP RGD:12895150 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0000486 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0000508 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0000510 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0000518 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0000520 PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662|RGD:8554872 IAGP RGD:12895150 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0000602 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0000618 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0000639 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0000648 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0000821 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0001249 RGD:8554872 IAGP RGD:10411647 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0001250 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0001250 PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662|RGD:8554872 IAGP RGD:12895150 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0001250 RGD:8554872 IAGP RGD:10411647 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0001251 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0001252 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0001254 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0001258 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0001260 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0001263 PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662|RGD:8554872 IAGP RGD:12895150 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0001270 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0001272 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0001276 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0001276 PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662|RGD:8554872 IAGP RGD:12895150 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0001285 RGD:8554872 IAGP RGD:10411647 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0001298 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0001324 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0001332 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0001347 PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662|RGD:8554872 IAGP RGD:12895150 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0001371 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0001508 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0001639 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0001639 RGD:8554872 IAGP RGD:12913588 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0001644 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0001838 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0001987 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0002015 RGD:8554872 IAGP RGD:10411647 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0002033 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0002098 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0002120 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0002151 MIM:604273|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20240307 HPO RGD 1313025 ATPAF2 HP:0002197 PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662|RGD:8554872 IAGP RGD:12895150 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0002240 MIM:604273|ORPHA:254913|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0002445 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0002490 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0003128 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0003348 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0003355 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0003535 MIM:604273|ORPHA:254913|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0003546 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0003577 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0003648 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0003819 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0004322 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0004808 RGD:8554872 IAGP RGD:713677114 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0006989 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0007229 PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662|RGD:8554872 IAGP RGD:12895150 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0009830 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0011273 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0011344 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0011675 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0011925 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0012126 RGD:8554872 IAGP RGD:714135641 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0012385 MIM:604273|PMID:14757859|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20250912 HPO RGD 1313025 ATPAF2 HP:0012443 PMID:25741868|RGD:8554872 IAGP RGD:14695716 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0012448 PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662|RGD:8554872 IAGP RGD:12895150 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0012758 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0032092 RGD:8554872 IAGP RGD:12913588 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0032794 ORPHA:254913|RGD:8699517 IAGP H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20230821 HPO RGD 1313025 ATPAF2 HP:0100522 PMID:28492532|RGD:8554872 IAGP RGD:714081602 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313025 ATPAF2 HP:0100539 PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662|RGD:8554872 IAGP RGD:12895150 H ATP synthase mitochondrial F1 complex assembly factor 2 gene taxon:9606 20260519 ClinVar RGD 1313029 PDIA2 HP:0003003 RGD:8554872 IAGP RGD:713700831 H protein disulfide isomerase family A member 2 gene taxon:9606 20260519 ClinVar RGD 1313029 PDIA2 HP:0004808 RGD:8554872 IAGP RGD:713621071 H protein disulfide isomerase family A member 2 gene taxon:9606 20260519 ClinVar RGD 1313029 PDIA2 HP:0100242 RGD:8554872 IAGP RGD:713629992 H protein disulfide isomerase family A member 2 gene taxon:9606 20260519 ClinVar RGD 1313029 PDIA2 HP:0100526 RGD:8554872 IAGP RGD:713700765 H protein disulfide isomerase family A member 2 gene taxon:9606 20260519 ClinVar RGD 1313031 RANBP6 HP:0001402 RGD:8554872 IAGP RGD:714088978 H RAN binding protein 6 gene taxon:9606 20260519 ClinVar RGD 1313031 RANBP6 HP:0002861 RGD:8554872 IAGP RGD:713762929 H RAN binding protein 6 gene taxon:9606 20260519 ClinVar RGD 1313031 RANBP6 HP:0003003 RGD:8554872 IAGP RGD:713762894 H RAN binding protein 6 gene taxon:9606 20260519 ClinVar RGD 1313031 RANBP6 HP:0100242 RGD:8554872 IAGP RGD:713762909 H RAN binding protein 6 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0000003 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000007 MIM:258860|MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20260209 HPO RGD 1313033 TCTN3 HP:0000028 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000037 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000062 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000068 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000073 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000085 MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0000104 ORPHA:2753|ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0000107 MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0000143 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000157 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000161 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000168 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000175 MIM:258860|MIM:614815|ORPHA:2753|ORPHA:2754|ORPHA:564|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20260209 HPO RGD 1313033 TCTN3 HP:0000176 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000180 MIM:258860|MIM:614815|ORPHA:2754|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0000190 ORPHA:2753|ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0000191 MIM:258860|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000193 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20260209 HPO RGD 1313033 TCTN3 HP:0000199 MIM:258860|ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0000202 ORPHA:2753|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0000218 MIM:258860|ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0000221 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000238 ORPHA:475|ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0000252 ORPHA:2753|ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20260209 HPO RGD 1313033 TCTN3 HP:0000276 ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0000278 MIM:614815|ORPHA:2753|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0000286 MIM:258860|ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20260209 HPO RGD 1313033 TCTN3 HP:0000293 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000316 MIM:258860|ORPHA:2753|ORPHA:2754|ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0000322 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000340 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000347 MIM:258860|ORPHA:2753|ORPHA:2754|ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0000356 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000358 ORPHA:2753|ORPHA:2754|ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0000369 MIM:258860|ORPHA:2753|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0000405 ORPHA:2753|ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0000426 ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0000445 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000453 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000455 ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000457 ORPHA:2753|ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0000463 ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000482 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000486 ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000496 MIM:614815|ORPHA:2753|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0000508 ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000518 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000520 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20260209 HPO RGD 1313033 TCTN3 HP:0000528 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000532 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000565 ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000568 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000598 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000612 ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000639 ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0000647 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000648 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000657 ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0000657 PMID:25741868|PMID:26092869|PMID:28492532|RGD:8554872 IAGP RGD:155801030 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0000657 PMID:25741868|RGD:8554872 IAGP RGD:155801032 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0000729 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151354379 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0000767 MIM:258860|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20260209 HPO RGD 1313033 TCTN3 HP:0000864 ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001156 MIM:258860|ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0001159 ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001161 MIM:258860|ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0001162 ORPHA:2753|ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0001171 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001177 ORPHA:2753|ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0001249 MIM:614815|ORPHA:2753|ORPHA:2754|ORPHA:475|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20260209 HPO RGD 1313033 TCTN3 HP:0001250 ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0001251 ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0001252 ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20260209 HPO RGD 1313033 TCTN3 HP:0001263 ORPHA:2753|ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20260209 HPO RGD 1313033 TCTN3 HP:0001263 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151354379 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0001270 PMID:25741868|PMID:26092869|PMID:28492532|RGD:8554872 IAGP RGD:155801030 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:155801032 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0001274 MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0001288 ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0001290 ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001305 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001320 ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0001328 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001337 ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0001344 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151354379 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0001367 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001373 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001382 MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20260209 HPO RGD 1313033 TCTN3 HP:0001402 RGD:8554872 IAGP RGD:714090990 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0001508 ORPHA:2753|ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0001510 ORPHA:2753|ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0001511 MIM:614815|ORPHA:2753|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20260209 HPO RGD 1313033 TCTN3 HP:0001562 ORPHA:2753|ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0001601 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001627 ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001629 MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0001657 RGD:8554872 IAGP RGD:10398590 H tectonic family member 3 gene taxon:9606 20260602 ClinVar RGD 1313033 TCTN3 HP:0001696 ORPHA:475|ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0001737 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001746 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001747 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001762 MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0001770 MIM:258860|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001800 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001829 MIM:258860|ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0001830 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0001883 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0002007 ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0002023 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0002059 MIM:258860|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0002084 ORPHA:475|ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0002085 MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0002089 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0002104 ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0002120 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0002126 ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0002132 MIM:258860|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0002139 MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0002205 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0002251 ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0002269 ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0002323 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0002335 MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0002419 MIM:614815|ORPHA:2754|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0002419 PMID:25741868|PMID:26092869|PMID:28492532|RGD:8554872 IAGP RGD:155801030 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0002419 PMID:25741868|RGD:8554872 IAGP RGD:155801032 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0002444 ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0002553 ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0002612 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0002650 ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20251023 HPO RGD 1313033 TCTN3 HP:0002665 RGD:8554872 IAGP RGD:713394703 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0002705 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0002751 MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0002793 ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0002876 ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0002970 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20260209 HPO RGD 1313033 TCTN3 HP:0002983 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0003196 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0003312 ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0003510 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20260209 HPO RGD 1313033 TCTN3 HP:0003577 MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0004322 MIM:258860|ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0004422 ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0004871 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0005248 MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0005736 MIM:258860|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0005772 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0005944 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0006101 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0006145 ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0006487 MIM:614815|ORPHA:564|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0006706 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0006770 RGD:8554872 IAGP RGD:713394827 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0006770 RGD:8554872 IAGP RGD:713394847 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0006870 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0007036 ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0007370 ORPHA:2754|ORPHA:475|ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0008053 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0008207 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0008678 ORPHA:2753|ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0008689 ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0008734 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0008872 ORPHA:2754|ORPHA:475|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0009084 ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0009118 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0009381 MIM:258860|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0010285 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0010295 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0010459 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0010469 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0010566 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0011094 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151354379 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0011255 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0011267 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0011342 PMID:25741868|PMID:26092869|PMID:28492532|RGD:8554872 IAGP RGD:155801030 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0011342 PMID:25741868|RGD:8554872 IAGP RGD:155801032 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0011797 RGD:8554872 IAGP RGD:713727644 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0011802 MIM:258860|ORPHA:2754|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0011830 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0011968 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0012126 PMID:28492532|RGD:8554872 IAGP RGD:15154880 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0012157 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0012385 MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0012825 PMID:25741868|PMID:26092869|PMID:28492532|RGD:8554872 IAGP RGD:155801030 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0012825 PMID:25741868|RGD:8554872 IAGP RGD:155801032 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0025023 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0030084 MIM:258860|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0030680 ORPHA:2753|ORPHA:475|ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250416 HPO RGD 1313033 TCTN3 HP:0030868 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0034044 MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0034198 MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0040019 ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0100242 PMID:28492532|RGD:8554872 IAGP RGD:151721175 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0100258 ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0100259 MIM:258860|MIM:614815|PMID:22883145|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20250912 HPO RGD 1313033 TCTN3 HP:0100260 ORPHA:2754|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0100308 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0100490 ORPHA:2753|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313033 TCTN3 HP:0100522 RGD:8554872 IAGP RGD:150482281 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0100522 RGD:8554872 IAGP RGD:713394928 H tectonic family member 3 gene taxon:9606 20260519 ClinVar RGD 1313033 TCTN3 HP:0100732 ORPHA:564|RGD:8699517 IAGP H tectonic family member 3 gene taxon:9606 20230821 HPO RGD 1313036 MCM3 HP:0001402 RGD:8554872 IAGP RGD:713761019 H minichromosome maintenance complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313036 MCM3 HP:0001402 RGD:8554872 IAGP RGD:714011212 H minichromosome maintenance complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313036 MCM3 HP:0001402 RGD:8554872 IAGP RGD:714081490 H minichromosome maintenance complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313036 MCM3 HP:0002861 RGD:8554872 IAGP RGD:713726799 H minichromosome maintenance complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313036 MCM3 HP:0004808 RGD:8554872 IAGP RGD:713722890 H minichromosome maintenance complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313036 MCM3 HP:0004808 RGD:8554872 IAGP RGD:713726799 H minichromosome maintenance complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313036 MCM3 HP:0012126 RGD:8554872 IAGP RGD:713566836 H minichromosome maintenance complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313036 MCM3 HP:0012126 RGD:8554872 IAGP RGD:713566859 H minichromosome maintenance complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313036 MCM3 HP:0012126 RGD:8554872 IAGP RGD:713726799 H minichromosome maintenance complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313036 MCM3 HP:0100242 RGD:8554872 IAGP RGD:713726799 H minichromosome maintenance complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313036 MCM3 HP:0100242 RGD:8554872 IAGP RGD:714095813 H minichromosome maintenance complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313036 MCM3 HP:0100522 RGD:8554872 IAGP RGD:714095708 H minichromosome maintenance complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313036 MCM3 HP:0100526 RGD:8554872 IAGP RGD:713726799 H minichromosome maintenance complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313036 MCM3 HP:0100615 RGD:8554872 IAGP RGD:713718803 H minichromosome maintenance complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313036 MCM3 HP:0100615 RGD:8554872 IAGP RGD:714120978 H minichromosome maintenance complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0000007 MIM:234200|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20260209 HPO RGD 1313038 PANK2 HP:0000020 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0000118 PMID:25741868|RGD:8554872 IAGP RGD:156189729 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0000152 PMID:25741868|PMID:34015165|RGD:8554872 IAGP RGD:127261087 H pantothenate kinase 2 gene taxon:9606 20260602 ClinVar RGD 1313038 PANK2 HP:0000152 PMID:25741868|RGD:8554872 IAGP RGD:127261090 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0000157 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0000273 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0000298 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0000488 ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0000510 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20260209 HPO RGD 1313038 PANK2 HP:0000510 PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26795593|PMID:28492532|PMID:28708303|PMID:30363918|PMID:32456086|RGD:8554872 IAGP RGD:8558139 H pantothenate kinase 2 gene taxon:9606 20260707 ClinVar RGD 1313038 PANK2 HP:0000510 PMID:11479594|PMID:12510040|PMID:16023068|PMID:28492532|RGD:8554872 IAGP RGD:13796283 H pantothenate kinase 2 gene taxon:9606 20240202 ClinVar RGD 1313038 PANK2 HP:0000510 PMID:25741868|PMID:34015165|RGD:8554872 IAGP RGD:127261087 H pantothenate kinase 2 gene taxon:9606 20260602 ClinVar RGD 1313038 PANK2 HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:127261090 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:150453662 H pantothenate kinase 2 gene taxon:9606 20211012 ClinVar RGD 1313038 PANK2 HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:243052657 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0000510 PMID:26497376|RGD:8554872 IAGP RGD:10448301 H pantothenate kinase 2 gene taxon:9606 20210323 ClinVar RGD 1313038 PANK2 HP:0000510 RGD:8554872 IAGP RGD:13798746 H pantothenate kinase 2 gene taxon:9606 20210323 ClinVar RGD 1313038 PANK2 HP:0000543 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20260209 HPO RGD 1313038 PANK2 HP:0000545 PMID:25741868|RGD:8554872 IAGP RGD:151661893 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0000546 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0000548 PMID:11479594|PMID:12510040|PMID:16023068|PMID:28492532|RGD:8554872 IAGP RGD:13796283 H pantothenate kinase 2 gene taxon:9606 20220420 ClinVar RGD 1313038 PANK2 HP:0000548 PMID:25741868|PMID:34015165|RGD:8554872 IAGP RGD:127261087 H pantothenate kinase 2 gene taxon:9606 20260602 ClinVar RGD 1313038 PANK2 HP:0000548 PMID:25741868|RGD:8554872 IAGP RGD:127261090 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0000548 PMID:25741868|RGD:8554872 IAGP RGD:243052657 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0000548 RGD:8554872 IAGP RGD:13798746 H pantothenate kinase 2 gene taxon:9606 20210323 ClinVar RGD 1313038 PANK2 HP:0000580 MIM:234200|ORPHA:216866|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0000618 ORPHA:216866|ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250416 HPO RGD 1313038 PANK2 HP:0000639 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0000643 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0000648 MIM:234200|ORPHA:216873|PMID:12510040|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0000648 PMID:25741868|RGD:8554872 IAGP RGD:596944587 H pantothenate kinase 2 gene taxon:9606 20250107 ClinVar RGD 1313038 PANK2 HP:0000658 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0000707 PMID:11479594|PMID:16272150|PMID:16437574|PMID:22221393|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8558142 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0000709 ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0000712 ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0000716 MIM:234200|ORPHA:216873|PMID:15911822|PMID:28821231|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0000722 ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0000726 MIM:234200|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0000737 ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:243052657 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0000752 MIM:234200|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0000786 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155800362 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0000953 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0001123 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001249 MIM:234200|PMID:28821231|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:243052657 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001250 MIM:234200|ORPHA:216866|PMID:28821231|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0001251 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0001251 PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26795593|PMID:28492532|PMID:28708303|PMID:30363918|PMID:32456086|RGD:8554872 IAGP RGD:8558139 H pantothenate kinase 2 gene taxon:9606 20260707 ClinVar RGD 1313038 PANK2 HP:0001251 PMID:11479594|PMID:12510040|PMID:16437574|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26900265 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001251 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001257 MIM:234200|ORPHA:216866|ORPHA:216873|PMID:12510040|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0001257 PMID:11479594|PMID:12510040|PMID:25741868|PMID:28492532|PMID:34272103|RGD:8554872 IAGP RGD:8558140 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001257 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:153346814 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001260 MIM:234200|ORPHA:216866|ORPHA:216873|PMID:12510040|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0001260 PMID:11479594|PMID:12510040|PMID:25741868|PMID:28492532|PMID:34272103|RGD:8554872 IAGP RGD:8558140 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001260 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:153346814 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001260 PMID:25741868|RGD:8554872 IAGP RGD:151661893 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001263 MIM:234200|ORPHA:216866|PMID:12510040|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0001263 PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26795593|PMID:28492532|PMID:28708303|PMID:30363918|PMID:32456086|RGD:8554872 IAGP RGD:8558139 H pantothenate kinase 2 gene taxon:9606 20260707 ClinVar RGD 1313038 PANK2 HP:0001263 PMID:11479594|PMID:12510040|PMID:16199547|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14717551 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001263 PMID:11479594|PMID:12510040|PMID:16437574|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26900265 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001263 PMID:25741868|PMID:28492532|PMID:28881514|RGD:8554872 IAGP RGD:38476647 H pantothenate kinase 2 gene taxon:9606 20260707 ClinVar RGD 1313038 PANK2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155912073 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:401855588 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:401855732 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001263 RGD:8554872 IAGP RGD:40887358 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001266 MIM:234200|PMID:12510040|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0001268 MIM:234200|PMID:12510040|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0001270 PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26795593|PMID:28492532|PMID:28708303|PMID:30363918|PMID:32456086|RGD:8554872 IAGP RGD:8558139 H pantothenate kinase 2 gene taxon:9606 20260707 ClinVar RGD 1313038 PANK2 HP:0001288 MIM:234200|ORPHA:216866|ORPHA:216873|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0001288 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001288 PMID:25741868|RGD:8554872 IAGP RGD:401855588 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001300 MIM:234200|ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250416 HPO RGD 1313038 PANK2 HP:0001304 PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26795593|PMID:28492532|PMID:28708303|PMID:30363918|PMID:32456086|RGD:8554872 IAGP RGD:8558139 H pantothenate kinase 2 gene taxon:9606 20260707 ClinVar RGD 1313038 PANK2 HP:0001310 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001317 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001332 MIM:234200|PMID:12510040|PMID:15911822|PMID:28821231|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0001332 PMID:11479594|PMID:12058097|PMID:12510040|PMID:28492532|PMID:32581362|RGD:8554872 IAGP RGD:8558148 H pantothenate kinase 2 gene taxon:9606 20260602 ClinVar RGD 1313038 PANK2 HP:0001337 MIM:234200|ORPHA:216873|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0001337 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001347 MIM:234200|ORPHA:216866|ORPHA:216873|PMID:12510040|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0001348 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001350 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001350 PMID:25741868|PMID:34015165|RGD:8554872 IAGP RGD:127261087 H pantothenate kinase 2 gene taxon:9606 20260602 ClinVar RGD 1313038 PANK2 HP:0001350 PMID:25741868|RGD:8554872 IAGP RGD:127261090 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:243052657 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001618 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0001618 PMID:25741868|RGD:8554872 IAGP RGD:151661893 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0001824 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0001927 MIM:234200|PMID:12510040|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0002015 MIM:234200|ORPHA:216866|ORPHA:216873|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0002015 PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26795593|PMID:28492532|PMID:28708303|PMID:30363918|PMID:32456086|RGD:8554872 IAGP RGD:8558139 H pantothenate kinase 2 gene taxon:9606 20260707 ClinVar RGD 1313038 PANK2 HP:0002015 PMID:25741868|PMID:34015165|RGD:8554872 IAGP RGD:127261087 H pantothenate kinase 2 gene taxon:9606 20260602 ClinVar RGD 1313038 PANK2 HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:127261090 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:151661893 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0002063 MIM:234200|ORPHA:216873|PMID:12510040|PMID:15911822|PMID:28821231|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0002066 PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26795593|PMID:28492532|PMID:28708303|PMID:30363918|PMID:32456086|RGD:8554872 IAGP RGD:8558139 H pantothenate kinase 2 gene taxon:9606 20260707 ClinVar RGD 1313038 PANK2 HP:0002067 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0002071 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0002072 MIM:234200|ORPHA:216873|PMID:28821231|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0002075 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0002080 PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26795593|PMID:28492532|PMID:28708303|PMID:30363918|PMID:32456086|RGD:8554872 IAGP RGD:8558139 H pantothenate kinase 2 gene taxon:9606 20260707 ClinVar RGD 1313038 PANK2 HP:0002120 MIM:234200|PMID:28821231|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0002167 ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0002179 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0002180 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0002180 PMID:15911822|PMID:16149094|PMID:16437574|PMID:23166001|PMID:24250886|PMID:25741868|PMID:28492532|PMID:28680084|PMID:29801903|RGD:8554872 IAGP RGD:12739070 H pantothenate kinase 2 gene taxon:9606 20240319 ClinVar RGD 1313038 PANK2 HP:0002180 PMID:25741868|RGD:8554872 IAGP RGD:12741906 H pantothenate kinase 2 gene taxon:9606 20210323 ClinVar RGD 1313038 PANK2 HP:0002180 PMID:25741868|RGD:8554872 IAGP RGD:151661893 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0002283 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0002304 MIM:234200|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0002310 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0002311 MIM:234200|PMID:28821231|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20251023 HPO RGD 1313038 PANK2 HP:0002311 PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26795593|PMID:28492532|PMID:28708303|PMID:30363918|PMID:32456086|RGD:8554872 IAGP RGD:8558139 H pantothenate kinase 2 gene taxon:9606 20260707 ClinVar RGD 1313038 PANK2 HP:0002312 ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0002359 ORPHA:216866|ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250416 HPO RGD 1313038 PANK2 HP:0002359 PMID:25741868|RGD:8554872 IAGP RGD:155912073 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0002359 PMID:25741868|RGD:8554872 IAGP RGD:401855732 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0002371 PMID:11479594|PMID:12510040|PMID:25741868|PMID:28492532|PMID:34272103|RGD:8554872 IAGP RGD:8558140 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0002395 PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26795593|PMID:28492532|PMID:28708303|PMID:30363918|PMID:32456086|RGD:8554872 IAGP RGD:8558139 H pantothenate kinase 2 gene taxon:9606 20260707 ClinVar RGD 1313038 PANK2 HP:0002451 ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0002454 MIM:234200|ORPHA:216866|PMID:15911822|PMID:28821231|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0002454 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0002454 PMID:25741868|RGD:8554872 IAGP RGD:151661893 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0002454 PMID:25741868|RGD:8554872 IAGP RGD:243052657 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0002474 PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26795593|PMID:28492532|PMID:28708303|PMID:30363918|PMID:32456086|RGD:8554872 IAGP RGD:8558139 H pantothenate kinase 2 gene taxon:9606 20260707 ClinVar RGD 1313038 PANK2 HP:0002483 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0002493 ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0002505 MIM:234200|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0002533 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0002540 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0002659 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0003155 MIM:234200|PMID:28821231|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0003198 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0003199 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0003236 MIM:234200|PMID:28821231|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0003487 MIM:234200|PMID:12510040|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0003487 PMID:25741868|RGD:8554872 IAGP RGD:151661893 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0003552 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0003593 MIM:234200|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0003621 MIM:234200|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20260209 HPO RGD 1313038 PANK2 HP:0003674 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0003678 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0004322 PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26795593|PMID:28492532|PMID:28708303|PMID:30363918|PMID:32456086|RGD:8554872 IAGP RGD:8558139 H pantothenate kinase 2 gene taxon:9606 20260707 ClinVar RGD 1313038 PANK2 HP:0004322 PMID:11479594|PMID:12510040|PMID:16437574|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26900265 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0004373 ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0004808 RGD:8554872 IAGP RGD:713841898 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0005216 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0007018 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0007103 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0007166 PMID:25741868|RGD:8554872 IAGP RGD:155912073 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0007183 PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26795593|PMID:28492532|PMID:28708303|PMID:30363918|PMID:32456086|RGD:8554872 IAGP RGD:8558139 H pantothenate kinase 2 gene taxon:9606 20260707 ClinVar RGD 1313038 PANK2 HP:0007256 MIM:234200|ORPHA:216873|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0007313 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0007325 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0007325 PMID:25741868|RGD:8554872 IAGP RGD:243052657 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0007906 PMID:25741868|RGD:8554872 IAGP RGD:151661893 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0008760 ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0008770 MIM:234200|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0008872 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0010628 PMID:25741868|RGD:8554872 IAGP RGD:151661893 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0011462 MIM:234200|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20260209 HPO RGD 1313038 PANK2 HP:0011463 MIM:234200|PMID:15911822|PMID:28821231|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20260209 HPO RGD 1313038 PANK2 HP:0011951 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0011968 PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26795593|PMID:28492532|PMID:28708303|PMID:30363918|PMID:32456086|RGD:8554872 IAGP RGD:8558139 H pantothenate kinase 2 gene taxon:9606 20260707 ClinVar RGD 1313038 PANK2 HP:0011968 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0012048 ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0012126 RGD:8554872 IAGP RGD:713777667 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0012443 PMID:25741868|RGD:8554872 IAGP RGD:401940312 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0012473 ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0012675 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0012675 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0012675 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:41407305 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0012675 PMID:25741868|RGD:8554872 IAGP RGD:401855732 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0012735 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0030051 ORPHA:216866|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0030153 RGD:8554872 IAGP RGD:713965044 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0030153 RGD:8554872 IAGP RGD:713965070 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0030216 ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0030892 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0031629 PMID:25741868|PMID:28492532|PMID:28681788|PMID:34272103|RGD:8554872 IAGP RGD:401920091 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0031814 MIM:234200|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313038 PANK2 HP:0033127 PMID:25741868|RGD:8554872 IAGP RGD:405866571 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0033454 PMID:11479594|PMID:12510040|PMID:16199547|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14717551 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0033630 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155800362 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0033850 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155800362 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0100021 PMID:11479594|PMID:12510040|PMID:16437574|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26900265 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0100034 MIM:234200|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0100035 MIM:234200|PMID:15911822|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250912 HPO RGD 1313038 PANK2 HP:0100522 PMID:11479594|PMID:12058097|PMID:12510040|PMID:28492532|PMID:32581362|RGD:8554872 IAGP RGD:8558148 H pantothenate kinase 2 gene taxon:9606 20260602 ClinVar RGD 1313038 PANK2 HP:0100526 PMID:25741868|RGD:8554872 IAGP RGD:407574654 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0100526 RGD:8554872 IAGP RGD:713965077 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0100543 ORPHA:216866|ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20250416 HPO RGD 1313038 PANK2 HP:0100543 PMID:25741868|PMID:34015165|RGD:8554872 IAGP RGD:127261087 H pantothenate kinase 2 gene taxon:9606 20260602 ClinVar RGD 1313038 PANK2 HP:0100543 PMID:25741868|RGD:8554872 IAGP RGD:127261090 H pantothenate kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313038 PANK2 HP:0100710 ORPHA:216873|RGD:8699517 IAGP H pantothenate kinase 2 gene taxon:9606 20230821 HPO RGD 1313043 SNAPC3 HP:0001402 RGD:8554872 IAGP RGD:714088380 H small nuclear RNA activating complex polypeptide 3 gene taxon:9606 20260519 ClinVar RGD 1313043 SNAPC3 HP:0004808 RGD:8554872 IAGP RGD:713779678 H small nuclear RNA activating complex polypeptide 3 gene taxon:9606 20260519 ClinVar RGD 1313043 SNAPC3 HP:0006770 RGD:8554872 IAGP RGD:713576455 H small nuclear RNA activating complex polypeptide 3 gene taxon:9606 20260519 ClinVar RGD 1313043 SNAPC3 HP:0006770 RGD:8554872 IAGP RGD:713576476 H small nuclear RNA activating complex polypeptide 3 gene taxon:9606 20260519 ClinVar RGD 1313043 SNAPC3 HP:0006770 RGD:8554872 IAGP RGD:713576499 H small nuclear RNA activating complex polypeptide 3 gene taxon:9606 20260519 ClinVar RGD 1313045 GTF3C5 HP:0004808 RGD:8554872 IAGP RGD:713507435 H general transcription factor IIIC subunit 5 gene taxon:9606 20260519 ClinVar RGD 1313045 GTF3C5 HP:0004808 RGD:8554872 IAGP RGD:713512640 H general transcription factor IIIC subunit 5 gene taxon:9606 20260519 ClinVar RGD 1313045 GTF3C5 HP:0004808 RGD:8554872 IAGP RGD:714256976 H general transcription factor IIIC subunit 5 gene taxon:9606 20260519 ClinVar RGD 1313045 GTF3C5 HP:0012126 RGD:8554872 IAGP RGD:713720681 H general transcription factor IIIC subunit 5 gene taxon:9606 20260519 ClinVar RGD 1313045 GTF3C5 HP:0100526 RGD:8554872 IAGP RGD:713558891 H general transcription factor IIIC subunit 5 gene taxon:9606 20260519 ClinVar RGD 1313047 MAGOH HP:0001402 RGD:8554872 IAGP RGD:713741179 H mago homolog, exon junction complex subunit gene taxon:9606 20260519 ClinVar RGD 1313047 MAGOH HP:0001402 RGD:8554872 IAGP RGD:713741206 H mago homolog, exon junction complex subunit gene taxon:9606 20260519 ClinVar RGD 1313047 MAGOH HP:0006770 RGD:8554872 IAGP RGD:713693234 H mago homolog, exon junction complex subunit gene taxon:9606 20260519 ClinVar RGD 1313047 MAGOH HP:0006770 RGD:8554872 IAGP RGD:713693451 H mago homolog, exon junction complex subunit gene taxon:9606 20260519 ClinVar RGD 1313051 C9orf78 HP:0001402 RGD:8554872 IAGP RGD:714157063 H chromosome 9 open reading frame 78 gene taxon:9606 20260519 ClinVar RGD 1313051 C9orf78 HP:0004808 RGD:8554872 IAGP RGD:713506783 H chromosome 9 open reading frame 78 gene taxon:9606 20260519 ClinVar RGD 1313051 C9orf78 HP:0006770 RGD:8554872 IAGP RGD:713552490 H chromosome 9 open reading frame 78 gene taxon:9606 20260519 ClinVar RGD 1313051 C9orf78 HP:0012126 RGD:8554872 IAGP RGD:713784269 H chromosome 9 open reading frame 78 gene taxon:9606 20260519 ClinVar RGD 1313051 C9orf78 HP:0012126 RGD:8554872 IAGP RGD:713983761 H chromosome 9 open reading frame 78 gene taxon:9606 20260519 ClinVar RGD 1313051 C9orf78 HP:0030153 RGD:8554872 IAGP RGD:713506783 H chromosome 9 open reading frame 78 gene taxon:9606 20260519 ClinVar RGD 1313051 C9orf78 HP:0100242 RGD:8554872 IAGP RGD:713719532 H chromosome 9 open reading frame 78 gene taxon:9606 20260519 ClinVar RGD 1313051 C9orf78 HP:0100522 RGD:8554872 IAGP RGD:714254842 H chromosome 9 open reading frame 78 gene taxon:9606 20260519 ClinVar RGD 1313051 C9orf78 HP:0100526 RGD:8554872 IAGP RGD:713552653 H chromosome 9 open reading frame 78 gene taxon:9606 20260519 ClinVar RGD 1313051 C9orf78 HP:0100526 RGD:8554872 IAGP RGD:713719532 H chromosome 9 open reading frame 78 gene taxon:9606 20260519 ClinVar RGD 1313054 PBXIP1 HP:0001402 RGD:8554872 IAGP RGD:714265077 H PBX homeobox interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313054 PBXIP1 HP:0002665 RGD:8554872 IAGP RGD:713841933 H PBX homeobox interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313054 PBXIP1 HP:0002665 RGD:8554872 IAGP RGD:713957808 H PBX homeobox interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313054 PBXIP1 HP:0006770 RGD:8554872 IAGP RGD:713842348 H PBX homeobox interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313054 PBXIP1 HP:0006770 RGD:8554872 IAGP RGD:713842786 H PBX homeobox interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313054 PBXIP1 HP:0006770 RGD:8554872 IAGP RGD:713842983 H PBX homeobox interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313054 PBXIP1 HP:0006770 RGD:8554872 IAGP RGD:713934853 H PBX homeobox interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313054 PBXIP1 HP:0030359 RGD:8554872 IAGP RGD:713844087 H PBX homeobox interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313054 PBXIP1 HP:0100242 RGD:8554872 IAGP RGD:713600987 H PBX homeobox interacting protein 1 gene taxon:9606 20260707 ClinVar RGD 1313054 PBXIP1 HP:0100522 RGD:8554872 IAGP RGD:713844037 H PBX homeobox interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313054 PBXIP1 HP:0100522 RGD:8554872 IAGP RGD:713957808 H PBX homeobox interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313054 PBXIP1 HP:0100526 RGD:8554872 IAGP RGD:713842484 H PBX homeobox interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0000007 MIM:612949|PMID:19641205|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:13820754 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0000189 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0000300 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0000316 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0000366 PMID:28492532|RGD:8554872 IAGP RGD:13820754 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0000389 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0000464 PMID:28492532|RGD:8554872 IAGP RGD:13820754 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:597831606 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0000729 PMID:25741868|PMID:27569545|RGD:8554872 IAGP RGD:11345456 H solute carrier family 25 member 12 gene taxon:9606 20210323 ClinVar RGD 1313056 SLC25A12 HP:0000817 MIM:612949|PMID:19641205|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0000929 PMID:28492532|RGD:8554872 IAGP RGD:13820754 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0000954 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0001182 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0001249 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:14704572 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0001250 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0001250 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:14704572 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0001252 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:401855293 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0001257 MIM:612949|PMID:19641205|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0001257 PMID:25741868|RGD:8554872 IAGP RGD:401855293 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0001263 MIM:612949|PMID:19641205|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0001290 PMID:28492532|RGD:8554872 IAGP RGD:13820754 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0001336 MIM:612949|PMID:19641205|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0001344 MIM:612949|PMID:19641205|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0001561 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0001622 PMID:28492532|RGD:8554872 IAGP RGD:13820754 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0001667 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0001999 PMID:28492532|RGD:8554872 IAGP RGD:13820754 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0002031 PMID:28492532|RGD:8554872 IAGP RGD:13820754 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0002104 MIM:612949|PMID:19641205|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0002133 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0002151 MIM:612949|PMID:19641205|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0002197 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0002230 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0002307 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0002373 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0002421 MIM:612949|PMID:19641205|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0002421 PMID:25741868|RGD:8554872 IAGP RGD:401855293 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0002493 PMID:25741868|RGD:8554872 IAGP RGD:596946164 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0002705 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0002861 RGD:8554872 IAGP RGD:713736324 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0003557 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0003577 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0003593 MIM:612949|PMID:19641205|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0003803 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0004322 PMID:28492532|RGD:8554872 IAGP RGD:13820754 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0004808 RGD:8554872 IAGP RGD:713388969 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0004808 RGD:8554872 IAGP RGD:713784706 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0005235 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0005469 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0005484 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0006725 RGD:8554872 IAGP RGD:713736239 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0006808 MIM:612949|PMID:19641205|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0006829 MIM:612949|PMID:19641205|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0007034 MIM:612949|PMID:19641205|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0008936 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0010881 PMID:28492532|RGD:8554872 IAGP RGD:13820754 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0011261 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0011335 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:13820754 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0011451 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0011797 RGD:8554872 IAGP RGD:713381610 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:13820754 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0012126 RGD:8554872 IAGP RGD:713500321 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0012708 MIM:612949|PMID:19641205|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0031936 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0032656 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0032792 MIM:612949|PMID:19641205|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0032988 MIM:612949|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0032989 MIM:612949|PMID:19641205|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313056 SLC25A12 HP:0100543 PMID:28492532|RGD:8554872 IAGP RGD:13820754 H solute carrier family 25 member 12 gene taxon:9606 20260519 ClinVar RGD 1313056 SLC25A12 HP:0200134 MIM:612949|PMID:19641205|PMID:24515575|RGD:8699517 IAGP H solute carrier family 25 member 12 gene taxon:9606 20250912 HPO RGD 1313058 COL8A2 HP:0000006 MIM:136800|MIM:609140|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20250416 HPO RGD 1313058 COL8A2 HP:0000483 ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0000501 ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0000533 ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20260209 HPO RGD 1313058 COL8A2 HP:0000565 ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0000572 ORPHA:98974|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0000613 ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0000622 ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0000632 ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0000646 ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0000662 ORPHA:98974|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0000969 ORPHA:98974|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0001131 MIM:136800|MIM:609140|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20250416 HPO RGD 1313058 COL8A2 HP:0007663 ORPHA:98973|ORPHA:98974|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20250416 HPO RGD 1313058 COL8A2 HP:0007705 MIM:136800|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0007906 ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0007957 MIM:609140|ORPHA:98973|ORPHA:98974|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20250416 HPO RGD 1313058 COL8A2 HP:0009918 ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0011483 ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0011488 ORPHA:98974|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0011490 ORPHA:98973|ORPHA:98974|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20250416 HPO RGD 1313058 COL8A2 HP:0011491 ORPHA:98973|ORPHA:98974|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20250416 HPO RGD 1313058 COL8A2 HP:0012038 MIM:136800|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0012039 MIM:136800|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0012040 MIM:136800|ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20250416 HPO RGD 1313058 COL8A2 HP:0025358 ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0030857 ORPHA:98974|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0032122 ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0100692 ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313058 COL8A2 HP:0200026 ORPHA:98973|RGD:8699517 IAGP H collagen type VIII alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0000006 MIM:618418|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0000012 MIM:618418|ORPHA:100993|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0000020 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0000605 MIM:618418|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0000640 MIM:618418|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0000641 MIM:618418|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0001250 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0001258 MIM:618418|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0001260 MIM:618418|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0001268 MIM:618418|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0001288 MIM:618418|ORPHA:100993|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0001288 PMID:25741868|RGD:8554872 IAGP RGD:617153432 H ubiquitin associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313064 UBAP1 HP:0001332 MIM:618418|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0001347 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0001402 RGD:8554872 IAGP RGD:714155763 H ubiquitin associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313064 UBAP1 HP:0001761 MIM:618418|ORPHA:100993|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0002061 MIM:618418|ORPHA:100993|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0002064 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0002067 MIM:618418|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0002070 MIM:618418|ORPHA:100993|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0002166 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0002169 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0002314 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0002395 MIM:618418|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0002607 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0002861 PMID:25741868|RGD:8554872 IAGP RGD:713789841 H ubiquitin associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313064 UBAP1 HP:0002861 RGD:8554872 IAGP RGD:714230324 H ubiquitin associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313064 UBAP1 HP:0002861 RGD:8554872 IAGP RGD:714230344 H ubiquitin associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313064 UBAP1 HP:0002921 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0003394 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0003457 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0003487 MIM:618418|ORPHA:100993|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0003621 MIM:618418|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0004808 RGD:8554872 IAGP RGD:714261506 H ubiquitin associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313064 UBAP1 HP:0006770 RGD:8554872 IAGP RGD:714230350 H ubiquitin associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313064 UBAP1 HP:0006986 MIM:618418|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0007020 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0007210 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0007340 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0007350 MIM:618418|ORPHA:100993|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0010831 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0011463 MIM:618418|PMID:30929741|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20250912 HPO RGD 1313064 UBAP1 HP:0012126 RGD:8554872 IAGP RGD:713725375 H ubiquitin associated protein 1 gene taxon:9606 20260707 ClinVar RGD 1313064 UBAP1 HP:0012898 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0030014 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0030153 RGD:8554872 IAGP RGD:714230304 H ubiquitin associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313064 UBAP1 HP:0040307 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313064 UBAP1 HP:0100526 RGD:8554872 IAGP RGD:714230338 H ubiquitin associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313064 UBAP1 HP:0100561 ORPHA:100993|RGD:8699517 IAGP H ubiquitin associated protein 1 gene taxon:9606 20230821 HPO RGD 1313067 MGAT5B HP:0002861 RGD:8554872 IAGP RGD:713377566 H alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B gene taxon:9606 20260519 ClinVar RGD 1313067 MGAT5B HP:0002861 RGD:8554872 IAGP RGD:713377611 H alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B gene taxon:9606 20260519 ClinVar RGD 1313067 MGAT5B HP:0007716 RGD:8554872 IAGP RGD:713795811 H alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B gene taxon:9606 20260519 ClinVar RGD 1313067 MGAT5B HP:0100242 RGD:8554872 IAGP RGD:713377353 H alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B gene taxon:9606 20260519 ClinVar RGD 1313067 MGAT5B HP:0100242 RGD:8554872 IAGP RGD:713377666 H alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B gene taxon:9606 20260519 ClinVar RGD 1313067 MGAT5B HP:0100526 RGD:8554872 IAGP RGD:713377583 H alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B gene taxon:9606 20260519 ClinVar RGD 1313070 SLC25A51 HP:0004808 RGD:8554872 IAGP RGD:714257864 H solute carrier family 25 member 51 gene taxon:9606 20260519 ClinVar RGD 1313070 SLC25A51 HP:0004808 RGD:8554872 IAGP RGD:714261639 H solute carrier family 25 member 51 gene taxon:9606 20260519 ClinVar RGD 1313070 SLC25A51 HP:0100526 RGD:8554872 IAGP RGD:713760344 H solute carrier family 25 member 51 gene taxon:9606 20260519 ClinVar RGD 1313072 KIFAP3 HP:0001402 RGD:8554872 IAGP RGD:714079229 H kinesin associated protein 3 gene taxon:9606 20260519 ClinVar RGD 1313072 KIFAP3 HP:0002861 RGD:8554872 IAGP RGD:713716623 H kinesin associated protein 3 gene taxon:9606 20260519 ClinVar RGD 1313072 KIFAP3 HP:0002861 RGD:8554872 IAGP RGD:713717569 H kinesin associated protein 3 gene taxon:9606 20260519 ClinVar RGD 1313072 KIFAP3 HP:0003003 RGD:8554872 IAGP RGD:713717817 H kinesin associated protein 3 gene taxon:9606 20260519 ClinVar RGD 1313072 KIFAP3 HP:0004808 RGD:8554872 IAGP RGD:713436394 H kinesin associated protein 3 gene taxon:9606 20260519 ClinVar RGD 1313072 KIFAP3 HP:0004808 RGD:8554872 IAGP RGD:713440681 H kinesin associated protein 3 gene taxon:9606 20260519 ClinVar RGD 1313072 KIFAP3 HP:0004808 RGD:8554872 IAGP RGD:713440770 H kinesin associated protein 3 gene taxon:9606 20260519 ClinVar RGD 1313072 KIFAP3 HP:0012126 RGD:8554872 IAGP RGD:713554865 H kinesin associated protein 3 gene taxon:9606 20260519 ClinVar RGD 1313072 KIFAP3 HP:0012126 RGD:8554872 IAGP RGD:713555019 H kinesin associated protein 3 gene taxon:9606 20260707 ClinVar RGD 1313072 KIFAP3 HP:0030153 RGD:8554872 IAGP RGD:713436394 H kinesin associated protein 3 gene taxon:9606 20260519 ClinVar RGD 1313072 KIFAP3 HP:0100522 RGD:8554872 IAGP RGD:713716560 H kinesin associated protein 3 gene taxon:9606 20260519 ClinVar RGD 1313074 SEMA7A HP:0000007 MIM:619874|PMID:34585848|RGD:8699517 IAGP H semaphorin 7A (JohnMiltonHagen blood group) gene taxon:9606 20250912 HPO RGD 1313074 SEMA7A HP:0000989 MIM:619874|PMID:34585848|RGD:8699517 IAGP H semaphorin 7A (JohnMiltonHagen blood group) gene taxon:9606 20250912 HPO RGD 1313074 SEMA7A HP:0002240 MIM:619874|PMID:34585848|RGD:8699517 IAGP H semaphorin 7A (JohnMiltonHagen blood group) gene taxon:9606 20250912 HPO RGD 1313074 SEMA7A HP:0003003 RGD:8554872 IAGP RGD:405283229 H semaphorin 7A (JohnMiltonHagen blood group) gene taxon:9606 20260519 ClinVar RGD 1313074 SEMA7A HP:0003593 MIM:619874|PMID:34585848|RGD:8699517 IAGP H semaphorin 7A (JohnMiltonHagen blood group) gene taxon:9606 20250912 HPO RGD 1313074 SEMA7A HP:0004808 RGD:8554872 IAGP RGD:405283229 H semaphorin 7A (JohnMiltonHagen blood group) gene taxon:9606 20260519 ClinVar RGD 1313074 SEMA7A HP:0004808 RGD:8554872 IAGP RGD:713566146 H semaphorin 7A (JohnMiltonHagen blood group) gene taxon:9606 20260519 ClinVar RGD 1313074 SEMA7A HP:0011797 RGD:8554872 IAGP RGD:713617004 H semaphorin 7A (JohnMiltonHagen blood group) gene taxon:9606 20260519 ClinVar RGD 1313074 SEMA7A HP:0012126 RGD:8554872 IAGP RGD:713959899 H semaphorin 7A (JohnMiltonHagen blood group) gene taxon:9606 20260519 ClinVar RGD 1313074 SEMA7A HP:0012202 MIM:619874|PMID:34585848|RGD:8699517 IAGP H semaphorin 7A (JohnMiltonHagen blood group) gene taxon:9606 20250912 HPO RGD 1313074 SEMA7A HP:0031956 MIM:619874|PMID:34585848|RGD:8699517 IAGP H semaphorin 7A (JohnMiltonHagen blood group) gene taxon:9606 20250912 HPO RGD 1313074 SEMA7A HP:0031964 MIM:619874|PMID:34585848|RGD:8699517 IAGP H semaphorin 7A (JohnMiltonHagen blood group) gene taxon:9606 20250912 HPO RGD 1313074 SEMA7A HP:0033479 MIM:619874|PMID:34585848|RGD:8699517 IAGP H semaphorin 7A (JohnMiltonHagen blood group) gene taxon:9606 20250912 HPO RGD 1313074 SEMA7A HP:0100242 RGD:8554872 IAGP RGD:405283229 H semaphorin 7A (JohnMiltonHagen blood group) gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0000006 MIM:130600|PMID:3597773|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250912 HPO RGD 1313077 SPTA1 HP:0000007 MIM:266140|MIM:270970|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250416 HPO RGD 1313077 SPTA1 HP:0000421 PMID:25741868|RGD:8554872 IAGP RGD:401855434 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0000776 PMID:25741868|RGD:8554872 IAGP RGD:152999055 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0000952 ORPHA:288|ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250416 HPO RGD 1313077 SPTA1 HP:0000980 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0001081 ORPHA:288|ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250416 HPO RGD 1313077 SPTA1 HP:0001251 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0001324 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0001402 RGD:8554872 IAGP RGD:713754625 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0001510 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0001723 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0001744 ORPHA:288|ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250416 HPO RGD 1313077 SPTA1 HP:0001744 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12838194 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0001744 PMID:25741868|RGD:8554872 IAGP RGD:152999055 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0001789 ORPHA:288|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0001871 PMID:25741868|RGD:8554872 IAGP RGD:151349372 H spectrin alpha, erythrocytic 1 gene taxon:9606 20220208 ClinVar RGD 1313077 SPTA1 HP:0001873 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12838194 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0001873 PMID:25741868|RGD:8554872 IAGP RGD:152999055 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0001877 ORPHA:288|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0001878 MIM:130600|MIM:266140|MIM:270970|ORPHA:288|PMID:27667160|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250912 HPO RGD 1313077 SPTA1 HP:0001878 PMID:10192450|PMID:25741868|PMID:27667160|PMID:32581362|PMID:38054408|PMID:8844207|RGD:8554872 IAGP RGD:11542344 H spectrin alpha, erythrocytic 1 gene taxon:9606 20250408 ClinVar RGD 1313077 SPTA1 HP:0001878 PMID:25741868|PMID:27667160|PMID:28492532|PMID:29484404|PMID:30198572|PMID:32581362|PMID:34553410|PMID:35638908|PMID:37400730|PMID:7646993|PMID:8844207|RGD:8554872 IAGP RGD:11547233 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260707 ClinVar RGD 1313077 SPTA1 HP:0001878 PMID:25741868|RGD:8554872 IAGP RGD:401854924 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0001878 PMID:32581362|RGD:8554872 IAGP RGD:21404854 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0001890 RGD:8554872 IAGP RGD:150338487 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0001903 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0001903 PMID:25741868|PMID:31038472|PMID:31723846|PMID:32581362|RGD:8554872 IAGP RGD:21404855 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210706 ClinVar RGD 1313077 SPTA1 HP:0001903 PMID:25741868|RGD:8554872 IAGP RGD:152999055 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0001903 PMID:25741868|RGD:8554872 IAGP RGD:401855434 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0001923 MIM:130600|ORPHA:288|ORPHA:822|PMID:29729090|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250912 HPO RGD 1313077 SPTA1 HP:0001930 PMID:15384986|PMID:18218854|PMID:24033266|PMID:25741868|PMID:27292444|PMID:27667160|PMID:28492532|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31364155|PMID:31723846|PMID:32436265|PMID:8941647|RGD:8554872 IAGP RGD:126726926 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0001945 ORPHA:288|ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250416 HPO RGD 1313077 SPTA1 HP:0001978 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0001997 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0002007 ORPHA:288|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0002027 ORPHA:288|ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250416 HPO RGD 1313077 SPTA1 HP:0002240 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0002721 PMID:25741868|RGD:8554872 IAGP RGD:401854924 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0002861 RGD:8554872 IAGP RGD:714188596 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0002904 ORPHA:288|ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250416 HPO RGD 1313077 SPTA1 HP:0003198 PMID:25741868|RGD:8554872 IAGP RGD:401854924 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0003265 MIM:130600|ORPHA:288|PMID:27667160|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250912 HPO RGD 1313077 SPTA1 HP:0003270 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0003326 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0003546 ORPHA:288|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20240118 HPO RGD 1313077 SPTA1 HP:0004444 MIM:270970|ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250416 HPO RGD 1313077 SPTA1 HP:0004444 PMID:18815189|PMID:23974198|PMID:25741868|PMID:2794061|PMID:28492532|PMID:31130284|PMID:31539204|PMID:32641076|PMID:32751168|PMID:37400730|PMID:41020088|PMID:8857939|RGD:8554872 IAGP RGD:8599188 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260602 ClinVar RGD 1313077 SPTA1 HP:0004444 PMID:25741868|RGD:8554872 IAGP RGD:405082118 H spectrin alpha, erythrocytic 1 gene taxon:9606 20240319 ClinVar RGD 1313077 SPTA1 HP:0004445 MIM:130600|MIM:266140|ORPHA:288|PMID:3597773|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250912 HPO RGD 1313077 SPTA1 HP:0004445 PMID:25741868|PMID:28492532|PMID:38069343|RGD:8554872 IAGP RGD:714070427 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004445 RGD:8554872 IAGP RGD:11634669 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004445 RGD:8554872 IAGP RGD:11650199 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004446 ORPHA:288|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0004447 ORPHA:288|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0004804 ORPHA:288|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0004808 RGD:8554872 IAGP RGD:713449048 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004808 RGD:8554872 IAGP RGD:713449094 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004835 MIM:266140|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0004839 MIM:266140|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0004839 PMID:10192450|PMID:25741868|PMID:27667160|PMID:32581362|PMID:38054408|PMID:8844207|RGD:8554872 IAGP RGD:11542344 H spectrin alpha, erythrocytic 1 gene taxon:9606 20250408 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:15384986|PMID:18218854|PMID:24033266|PMID:25741868|PMID:27292444|PMID:27667160|PMID:28492532|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31364155|PMID:31723846|PMID:32436265|PMID:8941647|RGD:8554872 IAGP RGD:126726926 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:1541680|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11552504 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:18815189|PMID:25741868|PMID:28492532|PMID:31038472|PMID:31333484|PMID:31723846|PMID:32266426|PMID:9192783|RGD:8554872 IAGP RGD:127287626 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:2346729|PMID:25741868|PMID:28492532|PMID:6236232|PMID:7074218|PMID:9192783|PMID:9746802|RGD:8554872 IAGP RGD:8563345 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260609 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:26002053|PMID:28492532|RGD:8554872 IAGP RGD:13608894 H spectrin alpha, erythrocytic 1 gene taxon:9606 20230214 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:27667160|PMID:28492532|PMID:29484404|PMID:30198572|PMID:32581362|PMID:34553410|PMID:35638908|PMID:37400730|PMID:7646993|PMID:8844207|RGD:8554872 IAGP RGD:11547233 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260707 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|PMID:33074880|RGD:8554872 IAGP RGD:15156116 H spectrin alpha, erythrocytic 1 gene taxon:9606 20240202 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|PMID:35845192|RGD:8554872 IAGP RGD:11579206 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260707 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|PMID:36920900|RGD:8554872 IAGP RGD:12847201 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11542246 H spectrin alpha, erythrocytic 1 gene taxon:9606 20220510 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11542306 H spectrin alpha, erythrocytic 1 gene taxon:9606 20230214 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11542332 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11542359 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11543032 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11543155 H spectrin alpha, erythrocytic 1 gene taxon:9606 20220510 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11543779 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11547188 H spectrin alpha, erythrocytic 1 gene taxon:9606 20220510 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11548129 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11577497 H spectrin alpha, erythrocytic 1 gene taxon:9606 20230214 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11577534 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260707 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11577615 H spectrin alpha, erythrocytic 1 gene taxon:9606 20240319 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11578015 H spectrin alpha, erythrocytic 1 gene taxon:9606 20241008 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11578178 H spectrin alpha, erythrocytic 1 gene taxon:9606 20240202 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11578578 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11578658 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11578699 H spectrin alpha, erythrocytic 1 gene taxon:9606 20241008 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11579012 H spectrin alpha, erythrocytic 1 gene taxon:9606 20241008 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11579027 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11579495 H spectrin alpha, erythrocytic 1 gene taxon:9606 20230110 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11579536 H spectrin alpha, erythrocytic 1 gene taxon:9606 20230214 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11579745 H spectrin alpha, erythrocytic 1 gene taxon:9606 20230110 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11634904 H spectrin alpha, erythrocytic 1 gene taxon:9606 20220510 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14393902 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260707 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28881699 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597673465 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|RGD:8554872 IAGP RGD:150334829 H spectrin alpha, erythrocytic 1 gene taxon:9606 20220208 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|RGD:8554872 IAGP RGD:401855687 H spectrin alpha, erythrocytic 1 gene taxon:9606 20231107 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|RGD:8554872 IAGP RGD:405257334 H spectrin alpha, erythrocytic 1 gene taxon:9606 20240409 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|RGD:8554872 IAGP RGD:405257336 H spectrin alpha, erythrocytic 1 gene taxon:9606 20240409 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|RGD:8554872 IAGP RGD:596928438 H spectrin alpha, erythrocytic 1 gene taxon:9606 20241210 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|RGD:8554872 IAGP RGD:597674519 H spectrin alpha, erythrocytic 1 gene taxon:9606 20250211 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|RGD:8554872 IAGP RGD:598178345 H spectrin alpha, erythrocytic 1 gene taxon:9606 20250506 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|RGD:8554872 IAGP RGD:598178351 H spectrin alpha, erythrocytic 1 gene taxon:9606 20250506 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|RGD:8554872 IAGP RGD:598178365 H spectrin alpha, erythrocytic 1 gene taxon:9606 20250506 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|RGD:8554872 IAGP RGD:598178372 H spectrin alpha, erythrocytic 1 gene taxon:9606 20250506 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:25741868|RGD:8554872 IAGP RGD:598178380 H spectrin alpha, erythrocytic 1 gene taxon:9606 20250506 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11577437 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11577506 H spectrin alpha, erythrocytic 1 gene taxon:9606 20240312 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11577527 H spectrin alpha, erythrocytic 1 gene taxon:9606 20230214 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11577637 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11577728 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11577842 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11577889 H spectrin alpha, erythrocytic 1 gene taxon:9606 20240319 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11577985 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11578027 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11578188 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11578439 H spectrin alpha, erythrocytic 1 gene taxon:9606 20250311 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11578747 H spectrin alpha, erythrocytic 1 gene taxon:9606 20250311 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11578807 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11578842 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11578881 H spectrin alpha, erythrocytic 1 gene taxon:9606 20230214 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11579000 H spectrin alpha, erythrocytic 1 gene taxon:9606 20240312 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11579044 H spectrin alpha, erythrocytic 1 gene taxon:9606 20250311 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11579189 H spectrin alpha, erythrocytic 1 gene taxon:9606 20250311 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11579238 H spectrin alpha, erythrocytic 1 gene taxon:9606 20240312 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11579394 H spectrin alpha, erythrocytic 1 gene taxon:9606 20220510 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:11579563 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:28878835 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:28880819 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:28886565 H spectrin alpha, erythrocytic 1 gene taxon:9606 20250311 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:28891940 H spectrin alpha, erythrocytic 1 gene taxon:9606 20240402 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:28893485 H spectrin alpha, erythrocytic 1 gene taxon:9606 20240403 ClinVar RGD 1313077 SPTA1 HP:0004839 PMID:28492532|RGD:8554872 IAGP RGD:28896331 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11577516 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11577591 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11577622 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11577625 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11577796 H spectrin alpha, erythrocytic 1 gene taxon:9606 20241112 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11577886 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11578069 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11578206 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11578253 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11578625 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11578713 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11578760 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11578785 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11579054 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11579338 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11579475 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11579779 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11634669 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11644594 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11645235 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11646890 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11647098 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11647980 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11648750 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11649040 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11650199 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11650200 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11651167 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11653625 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11653896 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:11654020 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:21070487 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:21070492 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:21071960 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28878842 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28879545 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28883210 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28885924 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28886226 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28886558 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28886876 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28889638 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28890384 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28891397 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28891952 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28891957 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28892289 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28893068 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28893080 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28895135 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28895610 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:28896326 H spectrin alpha, erythrocytic 1 gene taxon:9606 20210323 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:405724931 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260602 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:8563344 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260602 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:8563348 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260602 ClinVar RGD 1313077 SPTA1 HP:0004839 RGD:8554872 IAGP RGD:8599192 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260602 ClinVar RGD 1313077 SPTA1 HP:0005502 ORPHA:288|ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250416 HPO RGD 1313077 SPTA1 HP:0005525 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0006579 ORPHA:288|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0008169 PMID:25741868|RGD:8554872 IAGP RGD:401855434 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0008897 ORPHA:288|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0011869 PMID:25741868|RGD:8554872 IAGP RGD:401855434 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0011900 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0012378 ORPHA:288|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20240118 HPO RGD 1313077 SPTA1 HP:0025035 PMID:25741868|RGD:8554872 IAGP RGD:152999055 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0025143 ORPHA:288|ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250416 HPO RGD 1313077 SPTA1 HP:0025548 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0040186 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0100242 RGD:8554872 IAGP RGD:714188680 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0100522 RGD:8554872 IAGP RGD:714188759 H spectrin alpha, erythrocytic 1 gene taxon:9606 20260519 ClinVar RGD 1313077 SPTA1 HP:0100724 ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20230821 HPO RGD 1313077 SPTA1 HP:0200042 ORPHA:288|ORPHA:822|RGD:8699517 IAGP H spectrin alpha, erythrocytic 1 gene taxon:9606 20250416 HPO RGD 1313079 RBM11 HP:0002861 RGD:8554872 IAGP RGD:713977942 H RNA binding motif protein 11 gene taxon:9606 20260519 ClinVar RGD 1313079 RBM11 HP:0100526 RGD:8554872 IAGP RGD:713977950 H RNA binding motif protein 11 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0000006 MIM:613873|PMID:17509612|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20250912 HPO RGD 1313081 JPH2 HP:0000007 MIM:619492|PMID:30384889|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20250912 HPO RGD 1313081 JPH2 HP:0000407 ORPHA:154|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20230821 HPO RGD 1313081 JPH2 HP:0000969 ORPHA:154|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20240118 HPO RGD 1313081 JPH2 HP:0001402 PMID:25741868|RGD:8554872 IAGP RGD:14718133 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001522 MIM:619492|PMID:31227780|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20250912 HPO RGD 1313081 JPH2 HP:0001635 ORPHA:154|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20240118 HPO RGD 1313081 JPH2 HP:0001638 PMID:25500949|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9832592 H junctophilin 2 gene taxon:9606 20221206 ClinVar RGD 1313081 JPH2 HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10767815 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12912885 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001638 RGD:8554872 IAGP RGD:598122408 H junctophilin 2 gene taxon:9606 20250408 ClinVar RGD 1313081 JPH2 HP:0001639 MIM:613873|PMID:17509612|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20250912 HPO RGD 1313081 JPH2 HP:0001639 PMID:17476457|PMID:23757202|PMID:24033266|PMID:25333069|PMID:25741868|PMID:27532831|PMID:28492532|RGD:8554872 IAGP RGD:8602223 H junctophilin 2 gene taxon:9606 20260707 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:17476457|PMID:28492532|PMID:32492895|RGD:8554872 IAGP RGD:13501030 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:17509612|PMID:28492532|RGD:8554872 IAGP RGD:151789018 H junctophilin 2 gene taxon:9606 20221206 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:713948116 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151870097 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:156219596 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:405213118 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:597938591 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:22584458|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13465708 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:23861362|PMID:28492532|RGD:8554872 IAGP RGD:10046332 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:23973696|PMID:28393127|PMID:28492532|PMID:31227780|RGD:8554872 IAGP RGD:12742150 H junctophilin 2 gene taxon:9606 20260602 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10055792 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10055793 H junctophilin 2 gene taxon:9606 20260707 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10055794 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11089262 H junctophilin 2 gene taxon:9606 20250701 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8691347 H junctophilin 2 gene taxon:9606 20250701 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:13533677 H junctophilin 2 gene taxon:9606 20260707 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25500949|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9832592 H junctophilin 2 gene taxon:9606 20221206 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:26718681|PMID:28492532|RGD:8554872 IAGP RGD:151862499 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:27471098|PMID:28492532|PMID:30384889|PMID:31227780|RGD:8554872 IAGP RGD:12885800 H junctophilin 2 gene taxon:9606 20241210 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|PMID:28771489|RGD:8554872 IAGP RGD:13609107 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|PMID:30384889|RGD:8554872 IAGP RGD:11040347 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|PMID:33954932|RGD:8554872 IAGP RGD:13609083 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|PMID:35238659|RGD:8554872 IAGP RGD:126748548 H junctophilin 2 gene taxon:9606 20230808 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10055788 H junctophilin 2 gene taxon:9606 20250701 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10055791 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10407186 H junctophilin 2 gene taxon:9606 20250211 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10767815 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11348877 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11544840 H junctophilin 2 gene taxon:9606 20260707 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11548171 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11551213 H junctophilin 2 gene taxon:9606 20241008 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126726842 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126729859 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126747085 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126754895 H junctophilin 2 gene taxon:9606 20231212 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126755841 H junctophilin 2 gene taxon:9606 20250701 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126758673 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126923174 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12832940 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12839911 H junctophilin 2 gene taxon:9606 20260707 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12890211 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12901846 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12912885 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13211669 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13474657 H junctophilin 2 gene taxon:9606 20230509 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13488102 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13500791 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13525741 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13528363 H junctophilin 2 gene taxon:9606 20240409 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13804950 H junctophilin 2 gene taxon:9606 20250211 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13811061 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14717918 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150415237 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150416997 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150556721 H junctophilin 2 gene taxon:9606 20250701 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151749623 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151782298 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151808530 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151840320 H junctophilin 2 gene taxon:9606 20231212 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151863852 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151866947 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151881220 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151892709 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152101330 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155704424 H junctophilin 2 gene taxon:9606 20230411 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155708940 H junctophilin 2 gene taxon:9606 20250701 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155718841 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155720516 H junctophilin 2 gene taxon:9606 20250506 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243063956 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26902045 H junctophilin 2 gene taxon:9606 20231212 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26904492 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38482062 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38485587 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38489699 H junctophilin 2 gene taxon:9606 20230110 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401936188 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401961186 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405252862 H junctophilin 2 gene taxon:9606 20250211 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:42723096 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28008999|PMID:28492532|PMID:30847666|RGD:8554872 IAGP RGD:14741710 H junctophilin 2 gene taxon:9606 20230509 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|PMID:28771489|RGD:8554872 IAGP RGD:13500656 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|PMID:30235249|PMID:33673806|RGD:8554872 IAGP RGD:713656209 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|PMID:30235249|PMID:33673806|RGD:8554872 IAGP RGD:9586844 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|PMID:31227780|RGD:8554872 IAGP RGD:151840185 H junctophilin 2 gene taxon:9606 20221206 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|PMID:32368696|RGD:8554872 IAGP RGD:156247532 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|PMID:32880476|RGD:8554872 IAGP RGD:13480647 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|PMID:33552729|RGD:8554872 IAGP RGD:14740478 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|PMID:34036930|RGD:8554872 IAGP RGD:597877239 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|PMID:35352813|RGD:8554872 IAGP RGD:597923964 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|PMID:37904629|RGD:8554872 IAGP RGD:405725942 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:10055797 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:10055798 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:10407192 H junctophilin 2 gene taxon:9606 20211012 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:11349568 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:11542772 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:11543609 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:11547301 H junctophilin 2 gene taxon:9606 20210706 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:11548163 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:11552043 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:11552451 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126742148 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126746601 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126746717 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126747713 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126748379 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126748405 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126749412 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126750166 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126750259 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126753389 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126754361 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126757790 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126759404 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126760072 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126760115 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126763999 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126764868 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126915424 H junctophilin 2 gene taxon:9606 20210511 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126915546 H junctophilin 2 gene taxon:9606 20210511 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126916043 H junctophilin 2 gene taxon:9606 20210511 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126918126 H junctophilin 2 gene taxon:9606 20220607 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:126920487 H junctophilin 2 gene taxon:9606 20210511 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127230663 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127232212 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127235922 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127237390 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127239480 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127242153 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127242888 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127247332 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127255088 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127255215 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127258288 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127268262 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127269762 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127276962 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127282013 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127282656 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127305900 H junctophilin 2 gene taxon:9606 20210706 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127307471 H junctophilin 2 gene taxon:9606 20210706 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127307774 H junctophilin 2 gene taxon:9606 20241112 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127309538 H junctophilin 2 gene taxon:9606 20210706 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127312000 H junctophilin 2 gene taxon:9606 20210706 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127316112 H junctophilin 2 gene taxon:9606 20210706 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127319718 H junctophilin 2 gene taxon:9606 20210706 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127322605 H junctophilin 2 gene taxon:9606 20210706 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127325426 H junctophilin 2 gene taxon:9606 20210706 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127327619 H junctophilin 2 gene taxon:9606 20210706 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:127328055 H junctophilin 2 gene taxon:9606 20210706 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:12844575 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:12846824 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:12884197 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:12885202 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:12887895 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:12889494 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:12892219 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13211784 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13466733 H junctophilin 2 gene taxon:9606 20210706 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13477402 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13477590 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13479382 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13488294 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13499205 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13529302 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13529619 H junctophilin 2 gene taxon:9606 20241112 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13529896 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13532740 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13533192 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13533626 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13534661 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13535066 H junctophilin 2 gene taxon:9606 20210406 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13537731 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13609028 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13609075 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13609145 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13609147 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13609163 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13609594 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13609601 H junctophilin 2 gene taxon:9606 20250729 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13627160 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13804461 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13807183 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13807783 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13812609 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13812983 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13813028 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13813351 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13813796 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13816497 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:13817532 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:14701662 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:14706702 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:14716046 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:14732008 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:14737426 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:14737804 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:150414185 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:150420307 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:150450419 H junctophilin 2 gene taxon:9606 20240709 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:150477778 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:150545793 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:150546854 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:150555572 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:15107102 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:15114438 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:15114966 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:15128648 H junctophilin 2 gene taxon:9606 20210706 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151719594 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151720045 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151720183 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151723038 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151723786 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151726611 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151732195 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151739906 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151753714 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151758764 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151770577 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151777757 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151783380 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151783551 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151791556 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151799593 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151802462 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151802668 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151804279 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151806581 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151810442 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151814079 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151821350 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151823187 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151825728 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151831900 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151833136 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151840977 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151848085 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151851625 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151859966 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151861521 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151861837 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151862105 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151863390 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151868131 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151872176 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151873500 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151878356 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151880066 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151881070 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151884675 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151891233 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:151892657 H junctophilin 2 gene taxon:9606 20220420 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152030356 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152037892 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152044389 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152056147 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152070028 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152087496 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152092810 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152099093 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152107134 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152110305 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152112013 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152121707 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152122760 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152126000 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152136511 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152146384 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152150446 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152155153 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:152162117 H junctophilin 2 gene taxon:9606 20220510 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155664172 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155664842 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155666435 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155669924 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155670725 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155670941 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155673078 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155675631 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155676140 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155677131 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155683313 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155683902 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155686455 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155686577 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155688508 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155688644 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155695186 H junctophilin 2 gene taxon:9606 20221206 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155697281 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155699511 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155699987 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155703494 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155703539 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155705249 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155706533 H junctophilin 2 gene taxon:9606 20221206 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155715717 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155716675 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155727835 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155730453 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155731034 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155731307 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155732075 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155733982 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155735537 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155737478 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155737975 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155738886 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155740067 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155743201 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155743596 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155743619 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155744998 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155745125 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155746202 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155901847 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155914574 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155918772 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155940279 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155942566 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155949273 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155951746 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155952002 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:155982358 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156004061 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156009758 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156014700 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156021143 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156027529 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156027801 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156033459 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156033922 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156038774 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156046862 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156050982 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156083593 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156092956 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156099661 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156118361 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156124586 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156135064 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156136655 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156144593 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156154601 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156177713 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156191528 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156192062 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156196163 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156197714 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156198566 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156211750 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156213512 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156215651 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156217166 H junctophilin 2 gene taxon:9606 20230221 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156223725 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156227787 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156233790 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156251443 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156253617 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156260404 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156261099 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156272952 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156273278 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156280273 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156288409 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156290711 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156290975 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156292116 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156301259 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156303231 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156306377 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156310809 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156314519 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156322420 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156338853 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156348646 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156350581 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156360443 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156360627 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156365611 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156379948 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156412201 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156418401 H junctophilin 2 gene taxon:9606 20230214 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156437361 H junctophilin 2 gene taxon:9606 20230307 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156439735 H junctophilin 2 gene taxon:9606 20230307 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:156446847 H junctophilin 2 gene taxon:9606 20230307 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:21068275 H junctophilin 2 gene taxon:9606 20210608 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:26898732 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:26899199 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:26902077 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:26902503 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:26904076 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:26904184 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:26904362 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:26905014 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:26906110 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:26906603 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:26907624 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:329357748 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:329366869 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:329380087 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:38471983 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:38474032 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:38474665 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:38475742 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:38480028 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:38480224 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:38482827 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:38484119 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:38485902 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:38486764 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:38496664 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:38496918 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:38498812 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:39458107 H junctophilin 2 gene taxon:9606 20210706 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:401720859 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:401734357 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:401777635 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:401783193 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:401828716 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:401862152 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:401889267 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:402469234 H junctophilin 2 gene taxon:9606 20240312 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:402490253 H junctophilin 2 gene taxon:9606 20240312 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:402498075 H junctophilin 2 gene taxon:9606 20240312 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:402504350 H junctophilin 2 gene taxon:9606 20240312 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:402504479 H junctophilin 2 gene taxon:9606 20240312 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:402508401 H junctophilin 2 gene taxon:9606 20240312 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:402521879 H junctophilin 2 gene taxon:9606 20241112 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:404978739 H junctophilin 2 gene taxon:9606 20240319 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:404991549 H junctophilin 2 gene taxon:9606 20240319 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405074863 H junctophilin 2 gene taxon:9606 20240319 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405084466 H junctophilin 2 gene taxon:9606 20240319 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405088397 H junctophilin 2 gene taxon:9606 20240319 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405101776 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405101818 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405101898 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405101899 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405101997 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405102214 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405102233 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405102768 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405102938 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405103114 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405103307 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405103468 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405103671 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405103674 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405103735 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405104132 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405104337 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405104797 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405116164 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405141333 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405157563 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405160726 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405160844 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405165849 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405166311 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405166531 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405167121 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405169938 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405171388 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405171496 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405172666 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405172996 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405173260 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405173473 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405174075 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405174592 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405175500 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405203507 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405228909 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405237363 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405250862 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405251186 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405251319 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405251442 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405251812 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405251819 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405251869 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405251972 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405252621 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405253093 H junctophilin 2 gene taxon:9606 20240403 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405725878 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405725880 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405725890 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405725922 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405725968 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405728655 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405874601 H junctophilin 2 gene taxon:9606 20240709 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:405874602 H junctophilin 2 gene taxon:9606 20240709 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:407467105 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:596938907 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597718242 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597718257 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597718371 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597836014 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597839132 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597841105 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597844129 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597848913 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597857190 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597865041 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597873443 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597874342 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597876828 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597877610 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597887562 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597889072 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597891541 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597891919 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597895306 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597912575 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597921208 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597936230 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597940421 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597942262 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597945320 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597946276 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597953852 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597954526 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597956244 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597966326 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597967970 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597971105 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:597975197 H junctophilin 2 gene taxon:9606 20250311 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713350300 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713352164 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713398031 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713434872 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713441489 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713591371 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713595793 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713595806 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713614138 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713634567 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713640055 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713644497 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713646794 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713652128 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713700776 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713706311 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713715603 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713763626 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713799070 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713804190 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713807522 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713815252 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713828861 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713849812 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713896850 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713898985 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:713998829 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714011514 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714013986 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714022623 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714027246 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714034640 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714037739 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714044906 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714069207 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714077107 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714081566 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714085855 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714113087 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714113130 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714115728 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714147697 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714147703 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714150297 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714153507 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714162630 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714169801 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714170139 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714183274 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 PMID:28492532|RGD:8554872 IAGP RGD:714273997 H junctophilin 2 gene taxon:9606 20260519 ClinVar RGD 1313081 JPH2 HP:0001639 RGD:8554872 IAGP RGD:126764409 H junctophilin 2 gene taxon:9606 20210511 ClinVar RGD 1313081 JPH2 HP:0001644 MIM:619492|ORPHA:154|PMID:31227780|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20250912 HPO RGD 1313081 JPH2 HP:0001644 RGD:8554872 IAGP RGD:12911520 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001681 MIM:613873|PMID:17509612|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20250912 HPO RGD 1313081 JPH2 HP:0001685 MIM:613873|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20230821 HPO RGD 1313081 JPH2 HP:0001712 MIM:613873|PMID:17509612|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20250912 HPO RGD 1313081 JPH2 HP:0001712 RGD:8554872 IAGP RGD:13796082 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0001727 ORPHA:154|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20240118 HPO RGD 1313081 JPH2 HP:0001962 MIM:613873|PMID:17509612|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20250912 HPO RGD 1313081 JPH2 HP:0002094 MIM:613873|PMID:17509612|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20250912 HPO RGD 1313081 JPH2 HP:0002875 ORPHA:154|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20240118 HPO RGD 1313081 JPH2 HP:0003198 ORPHA:154|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20230821 HPO RGD 1313081 JPH2 HP:0003457 ORPHA:154|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20230821 HPO RGD 1313081 JPH2 HP:0003819 MIM:619492|PMID:31227780|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20250912 HPO RGD 1313081 JPH2 HP:0004756 MIM:613873|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20230821 HPO RGD 1313081 JPH2 HP:0005110 MIM:613873|PMID:17509612|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20250912 HPO RGD 1313081 JPH2 HP:0006673 MIM:619492|PMID:31227780|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20250912 HPO RGD 1313081 JPH2 HP:0010316 MIM:619492|PMID:31227780|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20250912 HPO RGD 1313081 JPH2 HP:0011462 MIM:613873|PMID:17509612|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20250912 HPO RGD 1313081 JPH2 HP:0011664 PMID:25741868|PMID:28492532|PMID:34814702|RGD:8554872 IAGP RGD:9832591 H junctophilin 2 gene taxon:9606 20250506 ClinVar RGD 1313081 JPH2 HP:0011664 RGD:8554872 IAGP RGD:11040147 H junctophilin 2 gene taxon:9606 20210323 ClinVar RGD 1313081 JPH2 HP:0011675 ORPHA:154|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20240118 HPO RGD 1313081 JPH2 HP:0012378 ORPHA:154|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20240118 HPO RGD 1313081 JPH2 HP:0012764 ORPHA:154|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20240118 HPO RGD 1313081 JPH2 HP:0025169 ORPHA:154|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20240118 HPO RGD 1313081 JPH2 HP:0100578 ORPHA:154|RGD:8699517 IAGP H junctophilin 2 gene taxon:9606 20230821 HPO RGD 1313083 NRL HP:0000006 MIM:613750|PMID:10192380|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260209 HPO RGD 1313083 NRL HP:0000007 MIM:621371|PMID:21217109|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0000405 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20230821 HPO RGD 1313083 NRL HP:0000407 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20230821 HPO RGD 1313083 NRL HP:0000501 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20230821 HPO RGD 1313083 NRL HP:0000505 MIM:613750|ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20250416 HPO RGD 1313083 NRL HP:0000510 MIM:613750|PMID:10192380|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260209 HPO RGD 1313083 NRL HP:0000510 PMID:15591106|PMID:17335001|PMID:23534816|PMID:28492532|RGD:8554872 IAGP RGD:28868020 H neural retina leucine zipper gene taxon:9606 20210406 ClinVar RGD 1313083 NRL HP:0000510 PMID:25741868|PMID:28492532|PMID:34906470|RGD:8554872 IAGP RGD:150438461 H neural retina leucine zipper gene taxon:9606 20250729 ClinVar RGD 1313083 NRL HP:0000510 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28868015 H neural retina leucine zipper gene taxon:9606 20230110 ClinVar RGD 1313083 NRL HP:0000510 PMID:25741868|PMID:34906470|RGD:8554872 IAGP RGD:150330412 H neural retina leucine zipper gene taxon:9606 20250729 ClinVar RGD 1313083 NRL HP:0000510 PMID:28492532|PMID:29385733|PMID:35693422|RGD:8554872 IAGP RGD:14395977 H neural retina leucine zipper gene taxon:9606 20250729 ClinVar RGD 1313083 NRL HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28868010 H neural retina leucine zipper gene taxon:9606 20250729 ClinVar RGD 1313083 NRL HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28868014 H neural retina leucine zipper gene taxon:9606 20240312 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:11600935 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:11607138 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:11610440 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:11615057 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:11615626 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:11615806 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:11617038 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:11623130 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:11623200 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:11624016 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:11625733 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:11648688 H neural retina leucine zipper gene taxon:9606 20250729 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:11651468 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:11656055 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:14693064 H neural retina leucine zipper gene taxon:9606 20250506 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:14693065 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:150330414 H neural retina leucine zipper gene taxon:9606 20210810 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:21405083 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:28867335 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:28873584 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:28873799 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:28873802 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:28910753 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:28910756 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000510 RGD:8554872 IAGP RGD:9480323 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000512 MIM:621371|ORPHA:791|PMID:15591106|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0000533 MIM:613750|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20230821 HPO RGD 1313083 NRL HP:0000540 MIM:621371|PMID:29385733|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0000543 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260209 HPO RGD 1313083 NRL HP:0000546 MIM:621371|ORPHA:791|PMID:15591106|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0000550 MIM:613750|PMID:10192380|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20250912 HPO RGD 1313083 NRL HP:0000551 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20241212 HPO RGD 1313083 NRL HP:0000556 PMID:11385710|PMID:15591106|PMID:15994872|PMID:17335001|PMID:28492532|RGD:8554872 IAGP RGD:34891466 H neural retina leucine zipper gene taxon:9606 20240409 ClinVar RGD 1313083 NRL HP:0000556 PMID:11879142|PMID:17335|PMID:17335001|PMID:25741868|PMID:28492532|PMID:33691693|RGD:8554872 IAGP RGD:156208424 H neural retina leucine zipper gene taxon:9606 20250107 ClinVar RGD 1313083 NRL HP:0000556 PMID:15591106|PMID:17335001|PMID:25741868|PMID:28492532|PMID:29385733|PMID:34906470|RGD:8554872 IAGP RGD:127237815 H neural retina leucine zipper gene taxon:9606 20260519 ClinVar RGD 1313083 NRL HP:0000556 PMID:17335001|PMID:25741868|PMID:28492532|PMID:29385733|PMID:36819107|RGD:8554872 IAGP RGD:26905284 H neural retina leucine zipper gene taxon:9606 20250729 ClinVar RGD 1313083 NRL HP:0000556 PMID:21981118|PMID:28492532|RGD:8554872 IAGP RGD:8570477 H neural retina leucine zipper gene taxon:9606 20260602 ClinVar RGD 1313083 NRL HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:13796231 H neural retina leucine zipper gene taxon:9606 20250107 ClinVar RGD 1313083 NRL HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939068 H neural retina leucine zipper gene taxon:9606 20250107 ClinVar RGD 1313083 NRL HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26909653 H neural retina leucine zipper gene taxon:9606 20250729 ClinVar RGD 1313083 NRL HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26910433 H neural retina leucine zipper gene taxon:9606 20250729 ClinVar RGD 1313083 NRL HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26910640 H neural retina leucine zipper gene taxon:9606 20220420 ClinVar RGD 1313083 NRL HP:0000556 RGD:8554872 IAGP RGD:11351145 H neural retina leucine zipper gene taxon:9606 20250729 ClinVar RGD 1313083 NRL HP:0000556 RGD:8554872 IAGP RGD:26910460 H neural retina leucine zipper gene taxon:9606 20210323 ClinVar RGD 1313083 NRL HP:0000556 RGD:8554872 IAGP RGD:405263114 H neural retina leucine zipper gene taxon:9606 20250729 ClinVar RGD 1313083 NRL HP:0000556 RGD:8554872 IAGP RGD:405263116 H neural retina leucine zipper gene taxon:9606 20240409 ClinVar RGD 1313083 NRL HP:0000556 RGD:8554872 IAGP RGD:405263117 H neural retina leucine zipper gene taxon:9606 20240409 ClinVar RGD 1313083 NRL HP:0000556 RGD:8554872 IAGP RGD:405263118 H neural retina leucine zipper gene taxon:9606 20240409 ClinVar RGD 1313083 NRL HP:0000563 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20230821 HPO RGD 1313083 NRL HP:0000580 MIM:621371|PMID:15591106|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0000602 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20230821 HPO RGD 1313083 NRL HP:0000613 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20230821 HPO RGD 1313083 NRL HP:0000618 MIM:613750|ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20250416 HPO RGD 1313083 NRL HP:0000639 MIM:621371|ORPHA:791|PMID:29385733|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0000646 MIM:621371|PMID:15591106|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0000648 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20230821 HPO RGD 1313083 NRL HP:0000662 MIM:613750|MIM:621371|ORPHA:791|PMID:10192380|PMID:15591106|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0000842 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20230821 HPO RGD 1313083 NRL HP:0001100 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26916592 H neural retina leucine zipper gene taxon:9606 20260616 ClinVar RGD 1313083 NRL HP:0001105 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20241212 HPO RGD 1313083 NRL HP:0001133 MIM:613750|MIM:621371|PMID:10192380|PMID:15591106|PMID:21217109|PMID:29385733|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0001939 PMID:25741868|PMID:28492532|PMID:29385733|RGD:8554872 IAGP RGD:13612275 H neural retina leucine zipper gene taxon:9606 20260519 ClinVar RGD 1313083 NRL HP:0003596 MIM:613750|PMID:10192380|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20250912 HPO RGD 1313083 NRL HP:0003621 MIM:621371|PMID:21217109|PMID:29385733|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0003829 MIM:613750|PMID:10192380|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20250912 HPO RGD 1313083 NRL HP:0007401 MIM:613750|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20230821 HPO RGD 1313083 NRL HP:0007663 MIM:613750|MIM:621371|ORPHA:791|PMID:10192380|PMID:21217109|PMID:29385733|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0007675 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20230821 HPO RGD 1313083 NRL HP:0007703 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20230821 HPO RGD 1313083 NRL HP:0007737 MIM:613750|ORPHA:791|PMID:10192380|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260209 HPO RGD 1313083 NRL HP:0007787 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20240118 HPO RGD 1313083 NRL HP:0007791 MIM:621371|PMID:21217109|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0007843 MIM:613750|MIM:621371|ORPHA:791|PMID:10192380|PMID:15591106|PMID:21217109|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0007950 MIM:613750|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20230821 HPO RGD 1313083 NRL HP:0007994 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20240118 HPO RGD 1313083 NRL HP:0008028 MIM:621371|PMID:21217109|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0008046 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20230821 HPO RGD 1313083 NRL HP:0008527 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26916592 H neural retina leucine zipper gene taxon:9606 20260616 ClinVar RGD 1313083 NRL HP:0011462 MIM:613750|PMID:10192380|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260209 HPO RGD 1313083 NRL HP:0011463 MIM:621371|PMID:15591106|PMID:29385733|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0011505 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20241212 HPO RGD 1313083 NRL HP:0012426 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20241212 HPO RGD 1313083 NRL HP:0020045 MIM:621371|PMID:29385733|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0020049 MIM:621371|PMID:29385733|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0025573 MIM:621371|PMID:15591106|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0030329 MIM:621371|PMID:15591106|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0030466 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20241212 HPO RGD 1313083 NRL HP:0030488 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20241212 HPO RGD 1313083 NRL HP:0030505 MIM:621371|PMID:21217109|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0030586 MIM:621371|PMID:15591106|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0030610 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20241212 HPO RGD 1313083 NRL HP:0030786 ORPHA:791|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20240118 HPO RGD 1313083 NRL HP:0032118 MIM:621371|PMID:15591106|PMID:21217109|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20260423 HPO RGD 1313083 NRL HP:0040049 MIM:613750|RGD:8699517 IAGP H neural retina leucine zipper gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0000006 MIM:600987|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0000023 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0000023 PMID:25741868|RGD:8554872 IAGP RGD:597708997 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000164 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0000175 MIM:600987|ORPHA:261190|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0000175 PMID:25741868|RGD:8554872 IAGP RGD:155266980 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000175 PMID:25741868|RGD:8554872 IAGP RGD:596944344 H Meis homeobox 2 gene taxon:9606 20250107 ClinVar RGD 1313085 MEIS2 HP:0000175 PMID:25741868|RGD:8554872 IAGP RGD:714063826 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000193 PMID:25741868|RGD:8554872 IAGP RGD:152981192 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000202 RGD:8554872 IAGP RGD:713888503 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000204 MIM:600987|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0000219 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0000252 MIM:600987|ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250416 HPO RGD 1313085 MEIS2 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:155266980 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000256 PMID:25741868|RGD:8554872 IAGP RGD:713888135 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000276 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0000307 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0000319 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0000322 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0000341 MIM:600987|ORPHA:261190|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0000343 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0000369 MIM:600987|ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250416 HPO RGD 1313085 MEIS2 HP:0000369 PMID:25741868|RGD:8554872 IAGP RGD:714063826 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000378 PMID:25741868|RGD:8554872 IAGP RGD:153001564 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000426 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0000444 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0000448 PMID:25741868|RGD:8554872 IAGP RGD:152981192 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000463 PMID:25741868|RGD:8554872 IAGP RGD:714063826 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000490 MIM:600987|ORPHA:261190|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0000494 PMID:25741868|RGD:8554872 IAGP RGD:152981192 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000582 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0000717 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0000717 RGD:8554872 IAGP RGD:151663539 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000717 RGD:8554872 IAGP RGD:153301016 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000718 RGD:8554872 IAGP RGD:153301016 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000729 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0000750 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:153001564 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:597708997 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0000768 PMID:25741868|RGD:8554872 IAGP RGD:153001564 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001028 PMID:25741868|RGD:8554872 IAGP RGD:714063826 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001061 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0001249 MIM:600987|ORPHA:261190|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0001249 RGD:8554872 IAGP RGD:151663539 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001249 RGD:8554872 IAGP RGD:153301016 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001250 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0001250 RGD:8554872 IAGP RGD:151663539 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:152981192 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001263 MIM:600987|ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250416 HPO RGD 1313085 MEIS2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:150470214 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:152981192 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:153001564 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155266980 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:405273731 H Meis homeobox 2 gene taxon:9606 20260707 ClinVar RGD 1313085 MEIS2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:597708997 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:713888135 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:597708997 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001270 RGD:155598680|PMID:24678003 IAGP H Meis homeobox 2 gene taxon:9606 20221019 RGD RGD 1313085 MEIS2 HP:0001344 PMID:25741868|RGD:8554872 IAGP RGD:597708997 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001344 PMID:25741868|RGD:8554872 IAGP RGD:713888135 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001344 RGD:8554872 IAGP RGD:153301016 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:597708997 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001513 RGD:8554872 IAGP RGD:151663539 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001513 RGD:8554872 IAGP RGD:153301016 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001601 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0001629 MIM:600987|ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250416 HPO RGD 1313085 MEIS2 HP:0001629 PMID:25741868|RGD:8554872 IAGP RGD:150470214 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001629 PMID:25741868|RGD:8554872 IAGP RGD:597708997 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001629 PMID:25741868|RGD:8554872 IAGP RGD:714063826 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001631 MIM:600987|ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250416 HPO RGD 1313085 MEIS2 HP:0001680 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0001684 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0001684 PMID:25741868|RGD:8554872 IAGP RGD:597708997 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001787 PMID:25741868|RGD:8554872 IAGP RGD:152981192 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0001852 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0002003 MIM:600987|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0002007 PMID:25741868|RGD:8554872 IAGP RGD:153001564 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:597708997 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0002020 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0002020 RGD:8554872 IAGP RGD:153301016 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0002119 PMID:25741868|RGD:8554872 IAGP RGD:714063826 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0002136 PMID:25741868|RGD:8554872 IAGP RGD:597708997 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0002376 RGD:8554872 IAGP RGD:153301016 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0002553 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0002571 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0002650 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0002705 PMID:25741868|RGD:8554872 IAGP RGD:714063826 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0002721 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0002808 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0002861 RGD:8554872 IAGP RGD:713560456 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0003196 PMID:25741868|RGD:8554872 IAGP RGD:713888135 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0003577 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0004322 MIM:600987|ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250416 HPO RGD 1313085 MEIS2 HP:0004422 ORPHA:261190|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0004482 PMID:25741868|RGD:8554872 IAGP RGD:153001564 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0004691 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0006889 PMID:25741868|RGD:8554872 IAGP RGD:150470214 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0008513 PMID:25741868|RGD:8554872 IAGP RGD:597708997 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0008551 PMID:25741868|RGD:8554872 IAGP RGD:153001564 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0008755 PMID:25741868|RGD:8554872 IAGP RGD:597708997 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0008872 RGD:155598678|PMID:30291340 IAGP H Meis homeobox 2 gene taxon:9606 20221019 RGD RGD 1313085 MEIS2 HP:0008936 PMID:25741868|RGD:8554872 IAGP RGD:155266980 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0008947 PMID:25741868|RGD:8554872 IAGP RGD:153001564 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0009099 PMID:25741868|RGD:8554872 IAGP RGD:597708997 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0009237 MIM:600987|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0009536 MIM:600987|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0009804 PMID:25741868|RGD:8554872 IAGP RGD:150470214 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0009890 MIM:600987|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0010055 MIM:600987|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0010292 PMID:25741868|RGD:8554872 IAGP RGD:714063826 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0010804 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0011230 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0011304 MIM:600987|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0011342 PMID:25741868|RGD:8554872 IAGP RGD:152981192 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0011344 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0011682 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0011797 RGD:8554872 IAGP RGD:714162993 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0011968 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0012126 RGD:8554872 IAGP RGD:713957691 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0012523 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0012725 MIM:600987|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:152981192 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0030153 RGD:8554872 IAGP RGD:713957685 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0030812 RGD:8554872 IAGP RGD:153301016 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0031651 PMID:25741868|RGD:8554872 IAGP RGD:597708997 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0031936 PMID:25741868|RGD:8554872 IAGP RGD:150470214 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0033255 MIM:600987|PMID:25712757|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20250912 HPO RGD 1313085 MEIS2 HP:0033454 PMID:25741868|RGD:8554872 IAGP RGD:597708997 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0033792 PMID:25741868|RGD:8554872 IAGP RGD:150470214 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0045075 MIM:600987|RGD:8699517 IAGP H Meis homeobox 2 gene taxon:9606 20230821 HPO RGD 1313085 MEIS2 HP:0100242 RGD:8554872 IAGP RGD:713560473 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0100526 RGD:8554872 IAGP RGD:713560494 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0100785 RGD:8554872 IAGP RGD:151663539 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313085 MEIS2 HP:0100807 PMID:25741868|RGD:8554872 IAGP RGD:153001564 H Meis homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313087 TTLL2 HP:0012126 RGD:8554872 IAGP RGD:713556683 H tubulin tyrosine ligase like 2 gene taxon:9606 20260519 ClinVar RGD 1313087 TTLL2 HP:0030153 RGD:8554872 IAGP RGD:713725800 H tubulin tyrosine ligase like 2 gene taxon:9606 20260519 ClinVar RGD 1313088 DR1 HP:0004808 RGD:8554872 IAGP RGD:713411838 H down-regulator of transcription 1 gene taxon:9606 20260519 ClinVar RGD 1313088 DR1 HP:0004808 RGD:8554872 IAGP RGD:713416332 H down-regulator of transcription 1 gene taxon:9606 20260519 ClinVar RGD 1313091 BAG1 HP:0006770 RGD:8554872 IAGP RGD:714229740 H BAG cochaperone 1 gene taxon:9606 20260519 ClinVar RGD 1313091 BAG1 HP:0006770 RGD:8554872 IAGP RGD:714229751 H BAG cochaperone 1 gene taxon:9606 20260519 ClinVar RGD 1313091 BAG1 HP:0012126 RGD:8554872 IAGP RGD:713724971 H BAG cochaperone 1 gene taxon:9606 20260519 ClinVar RGD 1313091 BAG1 HP:0100522 RGD:8554872 IAGP RGD:713724950 H BAG cochaperone 1 gene taxon:9606 20260519 ClinVar RGD 1313091 BAG1 HP:0100615 RGD:8554872 IAGP RGD:714229746 H BAG cochaperone 1 gene taxon:9606 20260519 ClinVar RGD 1313095 IPO4 HP:0001402 RGD:8554872 IAGP RGD:713353322 H importin 4 gene taxon:9606 20260519 ClinVar RGD 1313095 IPO4 HP:0002861 RGD:8554872 IAGP RGD:714207730 H importin 4 gene taxon:9606 20260519 ClinVar RGD 1313095 IPO4 HP:0004808 RGD:8554872 IAGP RGD:714162016 H importin 4 gene taxon:9606 20260519 ClinVar RGD 1313095 IPO4 HP:0004808 RGD:8554872 IAGP RGD:714162020 H importin 4 gene taxon:9606 20260707 ClinVar RGD 1313095 IPO4 HP:0007716 RGD:8554872 IAGP RGD:713793982 H importin 4 gene taxon:9606 20260519 ClinVar RGD 1313095 IPO4 HP:0030153 RGD:8554872 IAGP RGD:713987045 H importin 4 gene taxon:9606 20260519 ClinVar RGD 1313095 IPO4 HP:0100242 RGD:8554872 IAGP RGD:714207759 H importin 4 gene taxon:9606 20260519 ClinVar RGD 1313095 IPO4 HP:0100242 RGD:8554872 IAGP RGD:714207822 H importin 4 gene taxon:9606 20260519 ClinVar RGD 1313095 IPO4 HP:0100526 RGD:8554872 IAGP RGD:714162020 H importin 4 gene taxon:9606 20260519 ClinVar RGD 1313095 IPO4 HP:0100526 RGD:8554872 IAGP RGD:714207701 H importin 4 gene taxon:9606 20260519 ClinVar RGD 1313099 LDLRAD4 HP:0001402 RGD:8554872 IAGP RGD:713360399 H low density lipoprotein receptor class A domain containing 4 gene taxon:9606 20260519 ClinVar RGD 1313099 LDLRAD4 HP:0001402 RGD:8554872 IAGP RGD:713360437 H low density lipoprotein receptor class A domain containing 4 gene taxon:9606 20260519 ClinVar RGD 1313099 LDLRAD4 HP:0100242 RGD:8554872 IAGP RGD:713729514 H low density lipoprotein receptor class A domain containing 4 gene taxon:9606 20260519 ClinVar RGD 1313099 LDLRAD4 HP:0100526 RGD:8554872 IAGP RGD:713729459 H low density lipoprotein receptor class A domain containing 4 gene taxon:9606 20260519 ClinVar RGD 1313101 RIPOR3 HP:0001402 RGD:8554872 IAGP RGD:713369743 H RIPOR family member 3 gene taxon:9606 20260519 ClinVar RGD 1313101 RIPOR3 HP:0012125 RGD:8554872 IAGP RGD:9687116 H RIPOR family member 3 gene taxon:9606 20250708 ClinVar RGD 1313101 RIPOR3 HP:0012126 RGD:8554872 IAGP RGD:713779573 H RIPOR family member 3 gene taxon:9606 20260519 ClinVar RGD 1313101 RIPOR3 HP:0012126 RGD:8554872 IAGP RGD:713779585 H RIPOR family member 3 gene taxon:9606 20260519 ClinVar RGD 1313101 RIPOR3 HP:0012126 RGD:8554872 IAGP RGD:713779629 H RIPOR family member 3 gene taxon:9606 20260519 ClinVar RGD 1313101 RIPOR3 HP:0100242 RGD:8554872 IAGP RGD:713970741 H RIPOR family member 3 gene taxon:9606 20260519 ClinVar RGD 1313101 RIPOR3 HP:0100522 RGD:8554872 IAGP RGD:713779611 H RIPOR family member 3 gene taxon:9606 20260519 ClinVar RGD 1313101 RIPOR3 HP:0100522 RGD:8554872 IAGP RGD:713970762 H RIPOR family member 3 gene taxon:9606 20260519 ClinVar RGD 1313101 RIPOR3 HP:0100526 RGD:8554872 IAGP RGD:713690157 H RIPOR family member 3 gene taxon:9606 20260519 ClinVar RGD 1313101 RIPOR3 HP:0100526 RGD:8554872 IAGP RGD:713970738 H RIPOR family member 3 gene taxon:9606 20260519 ClinVar RGD 1313103 POLI HP:0001402 RGD:8554872 IAGP RGD:713361299 H DNA polymerase iota gene taxon:9606 20260519 ClinVar RGD 1313103 POLI HP:0004808 RGD:8554872 IAGP RGD:714265091 H DNA polymerase iota gene taxon:9606 20260519 ClinVar RGD 1313103 POLI HP:0100242 RGD:8554872 IAGP RGD:714265069 H DNA polymerase iota gene taxon:9606 20260519 ClinVar RGD 1313103 POLI HP:0100242 RGD:8554872 IAGP RGD:714266606 H DNA polymerase iota gene taxon:9606 20260519 ClinVar RGD 1313105 PNN HP:0001402 RGD:8554872 IAGP RGD:714158617 H pinin, desmosome associated protein gene taxon:9606 20260519 ClinVar RGD 1313105 PNN HP:0002665 RGD:8554872 IAGP RGD:713794016 H pinin, desmosome associated protein gene taxon:9606 20260519 ClinVar RGD 1313105 PNN HP:0002861 RGD:8554872 IAGP RGD:714211032 H pinin, desmosome associated protein gene taxon:9606 20260519 ClinVar RGD 1313105 PNN HP:0006770 RGD:8554872 IAGP RGD:714211064 H pinin, desmosome associated protein gene taxon:9606 20260519 ClinVar RGD 1313105 PNN HP:0006770 RGD:8554872 IAGP RGD:714211068 H pinin, desmosome associated protein gene taxon:9606 20260519 ClinVar RGD 1313105 PNN HP:0007716 RGD:8554872 IAGP RGD:713794016 H pinin, desmosome associated protein gene taxon:9606 20260519 ClinVar RGD 1313105 PNN HP:0012126 RGD:8554872 IAGP RGD:713794016 H pinin, desmosome associated protein gene taxon:9606 20260519 ClinVar RGD 1313105 PNN HP:0030153 RGD:8554872 IAGP RGD:713794016 H pinin, desmosome associated protein gene taxon:9606 20260519 ClinVar RGD 1313105 PNN HP:0030359 RGD:8554872 IAGP RGD:714211055 H pinin, desmosome associated protein gene taxon:9606 20260519 ClinVar RGD 1313105 PNN HP:0100242 RGD:8554872 IAGP RGD:714211073 H pinin, desmosome associated protein gene taxon:9606 20260519 ClinVar RGD 1313107 NT5DC1 HP:0001402 RGD:8554872 IAGP RGD:713550816 H 5'-nucleotidase domain containing 1 gene taxon:9606 20260707 ClinVar RGD 1313107 NT5DC1 HP:0004808 RGD:8554872 IAGP RGD:713435112 H 5'-nucleotidase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313107 NT5DC1 HP:0012126 RGD:8554872 IAGP RGD:713442328 H 5'-nucleotidase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313107 NT5DC1 HP:0012126 RGD:8554872 IAGP RGD:713550802 H 5'-nucleotidase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313107 NT5DC1 HP:0012126 RGD:8554872 IAGP RGD:714165628 H 5'-nucleotidase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313107 NT5DC1 HP:0100242 RGD:8554872 IAGP RGD:713511368 H 5'-nucleotidase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313107 NT5DC1 HP:0100526 RGD:8554872 IAGP RGD:713511400 H 5'-nucleotidase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313107 NT5DC1 HP:0100526 RGD:8554872 IAGP RGD:713511481 H 5'-nucleotidase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313110 SIRT6 HP:0001657 RGD:8554872 IAGP RGD:10395411 H sirtuin 6 gene taxon:9606 20260602 ClinVar RGD 1313110 SIRT6 HP:0008209 PMID:25741868|RGD:8554872 IAGP RGD:40904001 H sirtuin 6 gene taxon:9606 20210323 ClinVar RGD 1313110 SIRT6 HP:0100522 RGD:8554872 IAGP RGD:713384618 H sirtuin 6 gene taxon:9606 20260519 ClinVar RGD 1313114 MCM8 HP:0000007 MIM:612885|PMID:25437880|RGD:8699517 IAGP H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20250912 HPO RGD 1313114 MCM8 HP:0000027 MIM:612885|RGD:8699517 IAGP H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20230821 HPO RGD 1313114 MCM8 HP:0000786 MIM:612885|PMID:25437880|RGD:8699517 IAGP H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20250912 HPO RGD 1313114 MCM8 HP:0000786 PMID:25741868|PMID:28863940|RGD:8554872 IAGP RGD:151236201 H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313114 MCM8 HP:0000821 MIM:612885|PMID:25437880|RGD:8699517 IAGP H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20250912 HPO RGD 1313114 MCM8 HP:0000939 PMID:31042289|RGD:8554872 IAGP RGD:21404373 H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313114 MCM8 HP:0000939 PMID:31042289|RGD:8554872 IAGP RGD:21404374 H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313114 MCM8 HP:0001402 RGD:8554872 IAGP RGD:714177062 H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313114 MCM8 HP:0002861 RGD:8554872 IAGP RGD:713973007 H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313114 MCM8 HP:0002861 RGD:8554872 IAGP RGD:713973013 H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313114 MCM8 HP:0004322 PMID:31042289|RGD:8554872 IAGP RGD:21404381 H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313114 MCM8 HP:0004808 RGD:8554872 IAGP RGD:713964785 H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313114 MCM8 HP:0004808 RGD:8554872 IAGP RGD:713964790 H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313114 MCM8 HP:0007716 RGD:8554872 IAGP RGD:713796913 H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313114 MCM8 HP:0008209 MIM:612885|PMID:25437880|RGD:8699517 IAGP H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20250912 HPO RGD 1313114 MCM8 HP:0008232 MIM:612885|PMID:25437880|RGD:8699517 IAGP H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20250912 HPO RGD 1313114 MCM8 HP:0008724 MIM:612885|PMID:25437880|RGD:8699517 IAGP H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20250912 HPO RGD 1313114 MCM8 HP:0008734 MIM:612885|RGD:8699517 IAGP H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20230821 HPO RGD 1313114 MCM8 HP:0011969 MIM:612885|RGD:8699517 IAGP H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20230821 HPO RGD 1313114 MCM8 HP:0012126 RGD:8554872 IAGP RGD:713780640 H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313114 MCM8 HP:0012126 RGD:8554872 IAGP RGD:713964790 H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313114 MCM8 HP:0100526 RGD:8554872 IAGP RGD:713972966 H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313114 MCM8 HP:0100526 RGD:8554872 IAGP RGD:713972995 H minichromosome maintenance 8 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313116 CDK20 HP:0002861 RGD:8554872 IAGP RGD:713774444 H cyclin dependent kinase 20 gene taxon:9606 20260519 ClinVar RGD 1313116 CDK20 HP:0003002 PMID:25741868|RGD:8554872 IAGP RGD:126908743 H cyclin dependent kinase 20 gene taxon:9606 20260519 ClinVar RGD 1313116 CDK20 HP:0007018 PMID:28327206|RGD:8554872 IAGP RGD:12791760 H cyclin dependent kinase 20 gene taxon:9606 20260519 ClinVar RGD 1313116 CDK20 HP:0012126 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15159016 H cyclin dependent kinase 20 gene taxon:9606 20260707 ClinVar RGD 1313116 CDK20 HP:0100242 RGD:8554872 IAGP RGD:713774431 H cyclin dependent kinase 20 gene taxon:9606 20260519 ClinVar RGD 1313116 CDK20 HP:0100526 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15159016 H cyclin dependent kinase 20 gene taxon:9606 20260707 ClinVar RGD 1313116 CDK20 HP:0100526 RGD:8554872 IAGP RGD:405270401 H cyclin dependent kinase 20 gene taxon:9606 20260519 ClinVar RGD 1313116 CDK20 susceptibility HP:0030955 RGD:401851917|PMID:18438686 IAGP H cyclin dependent kinase 20 gene taxon:9606 20231031 RGD RGD 1313118 PPM1L HP:0011797 RGD:8554872 IAGP RGD:713956380 H protein phosphatase, Mg2+/Mn2+ dependent 1L gene taxon:9606 20260519 ClinVar RGD 1313123 SLC66A2 HP:0001402 RGD:8554872 IAGP RGD:713361754 H solute carrier family 66 member 2 gene taxon:9606 20260519 ClinVar RGD 1313123 SLC66A2 HP:0002861 RGD:8554872 IAGP RGD:713761431 H solute carrier family 66 member 2 gene taxon:9606 20260519 ClinVar RGD 1313123 SLC66A2 HP:0002861 RGD:8554872 IAGP RGD:713761491 H solute carrier family 66 member 2 gene taxon:9606 20260519 ClinVar RGD 1313123 SLC66A2 HP:0006770 RGD:8554872 IAGP RGD:713761368 H solute carrier family 66 member 2 gene taxon:9606 20260519 ClinVar RGD 1313123 SLC66A2 HP:0006770 RGD:8554872 IAGP RGD:713761447 H solute carrier family 66 member 2 gene taxon:9606 20260519 ClinVar RGD 1313123 SLC66A2 HP:0100242 RGD:8554872 IAGP RGD:713761476 H solute carrier family 66 member 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0001402 RGD:8554872 IAGP RGD:713680637 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0001402 RGD:8554872 IAGP RGD:714087008 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0001402 RGD:8554872 IAGP RGD:714156948 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0002665 RGD:8554872 IAGP RGD:713476958 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0004808 RGD:8554872 IAGP RGD:713509649 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0004808 RGD:8554872 IAGP RGD:714253887 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0006725 RGD:8554872 IAGP RGD:713476979 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0012126 RGD:8554872 IAGP RGD:713680637 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0012126 RGD:8554872 IAGP RGD:713680656 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0100242 RGD:8554872 IAGP RGD:713476768 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0100242 RGD:8554872 IAGP RGD:713476917 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0100242 RGD:8554872 IAGP RGD:713476958 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0100242 RGD:8554872 IAGP RGD:713504076 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0100522 RGD:8554872 IAGP RGD:713476809 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0100526 RGD:8554872 IAGP RGD:713476898 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313128 SMC2 HP:0100615 RGD:8554872 IAGP RGD:713476827 H structural maintenance of chromosomes 2 gene taxon:9606 20260519 ClinVar RGD 1313130 PHF2 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:156435124 H PHD finger protein 2 gene taxon:9606 20230307 ClinVar RGD 1313130 PHF2 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:156435125 H PHD finger protein 2 gene taxon:9606 20230307 ClinVar RGD 1313130 PHF2 HP:0001402 RGD:8554872 IAGP RGD:714089340 H PHD finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313130 PHF2 HP:0002861 RGD:8554872 IAGP RGD:713777873 H PHD finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313130 PHF2 HP:0004808 RGD:8554872 IAGP RGD:714260571 H PHD finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313130 PHF2 HP:0004808 RGD:8554872 IAGP RGD:714260580 H PHD finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313130 PHF2 HP:0004808 RGD:8554872 IAGP RGD:714260588 H PHD finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313130 PHF2 HP:0004808 RGD:8554872 IAGP RGD:714262189 H PHD finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313130 PHF2 HP:0012125 RGD:8554872 IAGP RGD:9686950 H PHD finger protein 2 gene taxon:9606 20250708 ClinVar RGD 1313130 PHF2 HP:0030359 RGD:8554872 IAGP RGD:713777832 H PHD finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313130 PHF2 HP:0100242 RGD:8554872 IAGP RGD:713777885 H PHD finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313130 PHF2 HP:0100522 RGD:8554872 IAGP RGD:713730764 H PHD finger protein 2 gene taxon:9606 20260707 ClinVar RGD 1313130 PHF2 HP:0100522 RGD:8554872 IAGP RGD:713777844 H PHD finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313130 PHF2 HP:0100526 RGD:8554872 IAGP RGD:714262194 H PHD finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313132 FRMPD1 HP:0002861 RGD:8554872 IAGP RGD:713760073 H FERM and PDZ domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313132 FRMPD1 HP:0002884 RGD:8554872 IAGP RGD:151717455 H FERM and PDZ domain containing 1 gene taxon:9606 20220420 ClinVar RGD 1313132 FRMPD1 HP:0012126 RGD:8554872 IAGP RGD:713726466 H FERM and PDZ domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313132 FRMPD1 HP:0100242 RGD:8554872 IAGP RGD:713760018 H FERM and PDZ domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0000006 MIM:610250|MIM:614751|PMID:16826527|PMID:22703882|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0000007 MIM:620011|PMID:27066569|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0000012 MIM:610250|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0000012 PMID:25741868|RGD:8554872 IAGP RGD:40889415 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0000218 MIM:620011|PMID:27066569|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0000365 PMID:21618648|PMID:25741868|PMID:26374131|PMID:27260292|PMID:28492532|PMID:34983064|RGD:8554872 IAGP RGD:12885281 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:401940386 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0001251 RGD:8554872 IAGP RGD:155794836 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0001252 MIM:620011|PMID:27066569|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0001257 PMID:25025039|PMID:25741868|RGD:8554872 IAGP RGD:13703264 H receptor accessory protein 1 gene taxon:9606 20230912 ClinVar RGD 1313134 REEP1 HP:0001257 PMID:25741868|RGD:8554872 IAGP RGD:40889415 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0001257 RGD:8554872 IAGP RGD:155794836 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0001258 MIM:610250|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0001258 PMID:16826527|PMID:18321925|PMID:18644145|PMID:25741868|PMID:32655478|RGD:8554872 IAGP RGD:714105847 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0001258 PMID:25741868|PMID:28492532|PMID:34983064|RGD:8554872 IAGP RGD:13804724 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0001258 PMID:25741868|RGD:8554872 IAGP RGD:127234158 H receptor accessory protein 1 gene taxon:9606 20210608 ClinVar RGD 1313134 REEP1 HP:0001258 PMID:25741868|RGD:8554872 IAGP RGD:127234161 H receptor accessory protein 1 gene taxon:9606 20210608 ClinVar RGD 1313134 REEP1 HP:0001258 PMID:25741868|RGD:8554872 IAGP RGD:40889415 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0001258 PMID:25741868|RGD:8554872 IAGP RGD:713956864 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0001258 PMID:25741868|RGD:8554872 IAGP RGD:714054526 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0001258 RGD:8554872 IAGP RGD:11051587 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0001258 RGD:8554872 IAGP RGD:155794836 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0001260 MIM:610250|ORPHA:101011|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250416 HPO RGD 1313134 REEP1 HP:0001260 RGD:8554872 IAGP RGD:11051587 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0001263 MIM:620011|PMID:34193129|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0001265 MIM:620011|PMID:34193129|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0001271 PMID:25741868|RGD:8554872 IAGP RGD:40889415 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0001276 ORPHA:101011|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0001276 RGD:8554872 IAGP RGD:155794836 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0001285 ORPHA:101011|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0001285 PMID:16826527|PMID:18321925|PMID:18644145|PMID:25741868|PMID:32655478|RGD:8554872 IAGP RGD:714105847 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0001288 ORPHA:101011|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0001288 PMID:21618648|PMID:25741868|PMID:26374131|PMID:27260292|PMID:28492532|PMID:34983064|RGD:8554872 IAGP RGD:12885281 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0001347 MIM:610250|ORPHA:139536|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250416 HPO RGD 1313134 REEP1 HP:0001348 ORPHA:101011|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0001402 RGD:8554872 IAGP RGD:14711629 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0001761 MIM:610250|MIM:614751|ORPHA:101011|ORPHA:139536|PMID:22703882|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0001761 PMID:21618648|PMID:25741868|PMID:26374131|PMID:27260292|PMID:28492532|PMID:34983064|RGD:8554872 IAGP RGD:12885281 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0001762 MIM:620011|PMID:27066569|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0001765 ORPHA:139536|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0002015 MIM:610250|ORPHA:101011|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250416 HPO RGD 1313134 REEP1 HP:0002061 MIM:610250|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0002061 PMID:25741868|RGD:8554872 IAGP RGD:127286365 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0002061 PMID:25741868|RGD:8554872 IAGP RGD:40889415 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0002064 MIM:610250|ORPHA:101011|PMID:16826527|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0002064 PMID:25741868|RGD:8554872 IAGP RGD:127286365 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0002064 RGD:8554872 IAGP RGD:11051587 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0002066 RGD:8554872 IAGP RGD:155794836 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0002098 MIM:620011|PMID:34193129|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0002313 PMID:25741868|RGD:8554872 IAGP RGD:713956864 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0002317 ORPHA:139536|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0002359 MIM:620011|PMID:34193129|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0002376 MIM:620011|PMID:31872057|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0002395 ORPHA:101011|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0002460 MIM:620011|PMID:27066569|PMID:31872057|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0002483 ORPHA:101011|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0002495 ORPHA:139536|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0002936 MIM:610250|ORPHA:101011|PMID:16826527|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0003202 MIM:610250|MIM:620011|PMID:31872057|PMID:34193129|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0003392 ORPHA:139536|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0003393 MIM:614751|ORPHA:139536|PMID:22703882|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0003426 ORPHA:139536|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0003427 ORPHA:139536|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0003431 MIM:614751|PMID:22703882|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0003435 ORPHA:139536|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0003438 MIM:614751|MIM:620011|PMID:22703882|PMID:31872057|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0003470 PMID:25741868|RGD:8554872 IAGP RGD:127286365 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0003477 MIM:620011|PMID:27066569|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0003484 ORPHA:139536|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0003487 MIM:610250|PMID:16826527|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0003487 RGD:8554872 IAGP RGD:11051587 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0003577 MIM:620011|PMID:27066569|PMID:31872057|PMID:34193129|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0003596 MIM:610250|PMID:16826527|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0003621 MIM:610250|MIM:614751|PMID:16826527|PMID:22703882|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0003693 MIM:610250|ORPHA:139536|PMID:16826527|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0005612 MIM:620011|PMID:27066569|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0005684 MIM:620011|PMID:31872057|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0006597 MIM:620011|PMID:31872057|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0006801 PMID:25741868|RGD:8554872 IAGP RGD:40889415 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0007178 ORPHA:139536|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0007210 PMID:21618648|PMID:25741868|PMID:26374131|PMID:27260292|PMID:28492532|PMID:34983064|RGD:8554872 IAGP RGD:12885281 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0007340 MIM:610250|PMID:16826527|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0007350 ORPHA:101011|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0008081 ORPHA:139536|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0008112 MIM:620011|PMID:31872057|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0008364 PMID:21618648|PMID:25741868|PMID:26374131|PMID:27260292|PMID:28492532|PMID:34983064|RGD:8554872 IAGP RGD:12885281 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0008956 ORPHA:101011|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0008994 ORPHA:101011|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0009027 MIM:620011|PMID:31872057|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0009046 ORPHA:101011|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0009049 MIM:614751|PMID:22703882|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0009053 ORPHA:139536|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0009110 MIM:620011|PMID:27066569|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0009588 PMID:21618648|PMID:25741868|PMID:26374131|PMID:27260292|PMID:28492532|PMID:34983064|RGD:8554872 IAGP RGD:12885281 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0009830 MIM:620011|PMID:34193129|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0010831 ORPHA:101011|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0010871 PMID:21618648|PMID:25741868|PMID:26374131|PMID:27260292|PMID:28492532|PMID:34983064|RGD:8554872 IAGP RGD:12885281 H receptor accessory protein 1 gene taxon:9606 20260602 ClinVar RGD 1313134 REEP1 HP:0011448 MIM:610250|PMID:16826527|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0011462 MIM:610250|PMID:16826527|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0011463 MIM:610250|PMID:16826527|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0011727 MIM:614751|PMID:22703882|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0011808 MIM:614751|PMID:22703882|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0011948 MIM:620011|PMID:27066569|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0012179 MIM:620011|PMID:31872057|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0025708 MIM:614751|PMID:22703882|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0030207 MIM:620011|PMID:27066569|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0030237 ORPHA:101011|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0031189 MIM:620011|PMID:31872057|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0031958 PMID:25741868|RGD:8554872 IAGP RGD:713956864 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313134 REEP1 HP:0033685 MIM:620011|PMID:27066569|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0040078 MIM:620011|PMID:27066569|PMID:31872057|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20250912 HPO RGD 1313134 REEP1 HP:0040131 ORPHA:139536|RGD:8699517 IAGP H receptor accessory protein 1 gene taxon:9606 20230821 HPO RGD 1313134 REEP1 HP:0100522 RGD:8554872 IAGP RGD:713680517 H receptor accessory protein 1 gene taxon:9606 20260519 ClinVar RGD 1313136 USP42 HP:0002861 RGD:8554872 IAGP RGD:713644592 H ubiquitin specific peptidase 42 gene taxon:9606 20260519 ClinVar RGD 1313136 USP42 HP:0002861 RGD:8554872 IAGP RGD:713644645 H ubiquitin specific peptidase 42 gene taxon:9606 20260519 ClinVar RGD 1313136 USP42 HP:0004808 RGD:8554872 IAGP RGD:713602579 H ubiquitin specific peptidase 42 gene taxon:9606 20260519 ClinVar RGD 1313136 USP42 HP:0006770 RGD:8554872 IAGP RGD:713644663 H ubiquitin specific peptidase 42 gene taxon:9606 20260519 ClinVar RGD 1313136 USP42 HP:0006770 RGD:8554872 IAGP RGD:713664058 H ubiquitin specific peptidase 42 gene taxon:9606 20260519 ClinVar RGD 1313136 USP42 HP:0012126 RGD:8554872 IAGP RGD:713602564 H ubiquitin specific peptidase 42 gene taxon:9606 20260707 ClinVar RGD 1313136 USP42 HP:0030153 RGD:8554872 IAGP RGD:713602579 H ubiquitin specific peptidase 42 gene taxon:9606 20260519 ClinVar RGD 1313136 USP42 HP:0030153 RGD:8554872 IAGP RGD:713644585 H ubiquitin specific peptidase 42 gene taxon:9606 20260519 ClinVar RGD 1313136 USP42 HP:0100242 RGD:8554872 IAGP RGD:713644535 H ubiquitin specific peptidase 42 gene taxon:9606 20260519 ClinVar RGD 1313136 USP42 HP:0100242 RGD:8554872 IAGP RGD:713644612 H ubiquitin specific peptidase 42 gene taxon:9606 20260519 ClinVar RGD 1313136 USP42 HP:0100242 RGD:8554872 IAGP RGD:713644620 H ubiquitin specific peptidase 42 gene taxon:9606 20260519 ClinVar RGD 1313136 USP42 HP:0100526 RGD:8554872 IAGP RGD:713602579 H ubiquitin specific peptidase 42 gene taxon:9606 20260519 ClinVar RGD 1313138 SLC5A10 HP:0001402 RGD:8554872 IAGP RGD:713357538 H solute carrier family 5 member 10 gene taxon:9606 20260519 ClinVar RGD 1313138 SLC5A10 HP:0002861 RGD:8554872 IAGP RGD:714169937 H solute carrier family 5 member 10 gene taxon:9606 20260519 ClinVar RGD 1313138 SLC5A10 HP:0004808 RGD:8554872 IAGP RGD:713672902 H solute carrier family 5 member 10 gene taxon:9606 20260519 ClinVar RGD 1313138 SLC5A10 HP:0100526 RGD:8554872 IAGP RGD:714135887 H solute carrier family 5 member 10 gene taxon:9606 20260519 ClinVar RGD 1313140 HAVCR2 HP:0000007 MIM:618398|PMID:30374066|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20250912 HPO RGD 1313140 HAVCR2 HP:0000282 MIM:618398|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313140 HAVCR2 HP:0001433 ORPHA:86884|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313140 HAVCR2 HP:0001744 MIM:618398|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313140 HAVCR2 HP:0001824 ORPHA:86884|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313140 HAVCR2 HP:0001876 MIM:618398|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313140 HAVCR2 HP:0001903 MIM:618398|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313140 HAVCR2 HP:0001945 MIM:618398|ORPHA:86884|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20250416 HPO RGD 1313140 HAVCR2 HP:0002155 MIM:618398|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313140 HAVCR2 HP:0002960 MIM:618398|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313140 HAVCR2 HP:0003256 ORPHA:86884|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313140 HAVCR2 HP:0003281 MIM:618398|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313140 HAVCR2 HP:0003584 MIM:618398|PMID:30374066|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20250912 HPO RGD 1313140 HAVCR2 HP:0003596 MIM:618398|PMID:30374066|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20250912 HPO RGD 1313140 HAVCR2 HP:0003621 MIM:618398|PMID:30374066|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20250912 HPO RGD 1313140 HAVCR2 HP:0004808 RGD:8554872 IAGP RGD:714161735 H hepatitis A virus cellular receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313140 HAVCR2 HP:0011462 MIM:618398|PMID:30374066|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20250912 HPO RGD 1313140 HAVCR2 HP:0011463 MIM:618398|PMID:30374066|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20250912 HPO RGD 1313140 HAVCR2 HP:0011900 MIM:618398|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313140 HAVCR2 HP:0012156 MIM:618398|ORPHA:86884|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20250416 HPO RGD 1313140 HAVCR2 HP:0012378 ORPHA:86884|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313140 HAVCR2 HP:0012490 MIM:618398|ORPHA:86884|PMID:30374066|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20250912 HPO RGD 1313140 HAVCR2 HP:0025143 ORPHA:86884|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313140 HAVCR2 HP:0025474 ORPHA:86884|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313140 HAVCR2 HP:0030350 ORPHA:86884|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313140 HAVCR2 HP:0034403 MIM:618398|PMID:30374066|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20250912 HPO RGD 1313140 HAVCR2 HP:0034403 PMID:25741868|RGD:8554872 IAGP RGD:150492769 H hepatitis A virus cellular receptor 2 gene taxon:9606 20221220 ClinVar RGD 1313140 HAVCR2 HP:0034403 PMID:25741868|RGD:8554872 IAGP RGD:243064057 H hepatitis A virus cellular receptor 2 gene taxon:9606 20230411 ClinVar RGD 1313140 HAVCR2 HP:0034403 PMID:25741868|RGD:8554872 IAGP RGD:713872124 H hepatitis A virus cellular receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313140 HAVCR2 HP:0034403 RGD:8554872 IAGP RGD:126910402 H hepatitis A virus cellular receptor 2 gene taxon:9606 20221220 ClinVar RGD 1313140 HAVCR2 HP:0100242 RGD:8554872 IAGP RGD:713898446 H hepatitis A virus cellular receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313140 HAVCR2 HP:0100522 RGD:8554872 IAGP RGD:713466415 H hepatitis A virus cellular receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313140 HAVCR2 HP:0200042 ORPHA:86884|RGD:8699517 IAGP H hepatitis A virus cellular receptor 2 gene taxon:9606 20230821 HPO RGD 1313142 YTHDF3 HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:730468358 H YTH N6-methyladenosine RNA binding protein F3 gene taxon:9606 20260616 ClinVar RGD 1313142 YTHDF3 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:730468358 H YTH N6-methyladenosine RNA binding protein F3 gene taxon:9606 20260616 ClinVar RGD 1313142 YTHDF3 HP:0001402 RGD:8554872 IAGP RGD:713495482 H YTH N6-methyladenosine RNA binding protein F3 gene taxon:9606 20260519 ClinVar RGD 1313142 YTHDF3 HP:0002665 RGD:8554872 IAGP RGD:713613169 H YTH N6-methyladenosine RNA binding protein F3 gene taxon:9606 20260519 ClinVar RGD 1313142 YTHDF3 HP:0002861 RGD:8554872 IAGP RGD:714139517 H YTH N6-methyladenosine RNA binding protein F3 gene taxon:9606 20260519 ClinVar RGD 1313142 YTHDF3 HP:0002861 RGD:8554872 IAGP RGD:714139572 H YTH N6-methyladenosine RNA binding protein F3 gene taxon:9606 20260519 ClinVar RGD 1313142 YTHDF3 HP:0004808 RGD:8554872 IAGP RGD:713613169 H YTH N6-methyladenosine RNA binding protein F3 gene taxon:9606 20260519 ClinVar RGD 1313142 YTHDF3 HP:0006770 RGD:8554872 IAGP RGD:714139529 H YTH N6-methyladenosine RNA binding protein F3 gene taxon:9606 20260519 ClinVar RGD 1313142 YTHDF3 HP:0006770 RGD:8554872 IAGP RGD:714139563 H YTH N6-methyladenosine RNA binding protein F3 gene taxon:9606 20260519 ClinVar RGD 1313142 YTHDF3 HP:0012126 RGD:8554872 IAGP RGD:713495482 H YTH N6-methyladenosine RNA binding protein F3 gene taxon:9606 20260519 ClinVar RGD 1313142 YTHDF3 HP:0100242 RGD:8554872 IAGP RGD:714139553 H YTH N6-methyladenosine RNA binding protein F3 gene taxon:9606 20260519 ClinVar RGD 1313142 YTHDF3 HP:0100522 RGD:8554872 IAGP RGD:714139585 H YTH N6-methyladenosine RNA binding protein F3 gene taxon:9606 20260519 ClinVar RGD 1313142 YTHDF3 HP:0100615 RGD:8554872 IAGP RGD:713495482 H YTH N6-methyladenosine RNA binding protein F3 gene taxon:9606 20260519 ClinVar RGD 1313142 YTHDF3 HP:0100615 RGD:8554872 IAGP RGD:714139507 H YTH N6-methyladenosine RNA binding protein F3 gene taxon:9606 20260519 ClinVar RGD 1313144 DCPH1 HP:0003003 RGD:8554872 IAGP RGD:713808762 H damage control phosphatase 1 gene taxon:9606 20260519 ClinVar RGD 1313146 PSMD13 HP:0001402 RGD:8554872 IAGP RGD:714091856 H proteasome 26S subunit, non-ATPase 13 gene taxon:9606 20260519 ClinVar RGD 1313146 PSMD13 HP:0001402 RGD:8554872 IAGP RGD:714157574 H proteasome 26S subunit, non-ATPase 13 gene taxon:9606 20260519 ClinVar RGD 1313146 PSMD13 HP:0006770 RGD:8554872 IAGP RGD:714224247 H proteasome 26S subunit, non-ATPase 13 gene taxon:9606 20260519 ClinVar RGD 1313146 PSMD13 HP:0012126 RGD:8554872 IAGP RGD:714017897 H proteasome 26S subunit, non-ATPase 13 gene taxon:9606 20260519 ClinVar RGD 1313146 PSMD13 HP:0012126 RGD:8554872 IAGP RGD:714017911 H proteasome 26S subunit, non-ATPase 13 gene taxon:9606 20260519 ClinVar RGD 1313146 PSMD13 HP:0100526 RGD:8554872 IAGP RGD:714224259 H proteasome 26S subunit, non-ATPase 13 gene taxon:9606 20260519 ClinVar RGD 1313148 TATDN1 HP:0001402 RGD:8554872 IAGP RGD:713767060 H TatD DNase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313148 TATDN1 HP:0001402 RGD:8554872 IAGP RGD:713767078 H TatD DNase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313148 TATDN1 HP:0001402 RGD:8554872 IAGP RGD:713767094 H TatD DNase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313148 TATDN1 HP:0001402 RGD:8554872 IAGP RGD:713767109 H TatD DNase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313148 TATDN1 HP:0001402 RGD:8554872 IAGP RGD:714084949 H TatD DNase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313148 TATDN1 HP:0001402 RGD:8554872 IAGP RGD:714084956 H TatD DNase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313148 TATDN1 HP:0002665 RGD:8554872 IAGP RGD:713598185 H TatD DNase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313148 TATDN1 HP:0002665 RGD:8554872 IAGP RGD:713601525 H TatD DNase domain containing 1 gene taxon:9606 20260707 ClinVar RGD 1313148 TATDN1 HP:0002861 RGD:8554872 IAGP RGD:713601525 H TatD DNase domain containing 1 gene taxon:9606 20260707 ClinVar RGD 1313148 TATDN1 HP:0006770 RGD:8554872 IAGP RGD:713601525 H TatD DNase domain containing 1 gene taxon:9606 20260707 ClinVar RGD 1313148 TATDN1 HP:0006770 RGD:8554872 IAGP RGD:714087879 H TatD DNase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313148 TATDN1 HP:0012126 RGD:8554872 IAGP RGD:713669440 H TatD DNase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313148 TATDN1 HP:0012126 RGD:8554872 IAGP RGD:713932527 H TatD DNase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313148 TATDN1 HP:0012126 RGD:8554872 IAGP RGD:713932540 H TatD DNase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313148 TATDN1 HP:0030359 RGD:8554872 IAGP RGD:714087955 H TatD DNase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313148 TATDN1 HP:0100526 RGD:8554872 IAGP RGD:713601525 H TatD DNase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313148 TATDN1 HP:0100526 RGD:8554872 IAGP RGD:714087833 H TatD DNase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313150 TRIM32 HP:0000007 MIM:254110|MIM:615988|PMID:11822024|PMID:16606853|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20260209 HPO RGD 1313150 TRIM32 HP:0000011 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000028 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0000076 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000077 MIM:615988|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0000085 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000098 ORPHA:1878|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0000100 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0000119 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000126 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000135 MIM:615988|ORPHA:110|PMID:16606853|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20250912 HPO RGD 1313150 TRIM32 HP:0000147 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000163 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000218 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000278 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000298 ORPHA:1878|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0000316 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000343 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000358 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240815 HPO RGD 1313150 TRIM32 HP:0000365 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0000388 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000400 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000426 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0000470 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0000483 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000486 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000488 MIM:615988|PMID:16606853|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20250912 HPO RGD 1313150 TRIM32 HP:0000494 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0000512 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0000518 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000548 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000551 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000556 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000613 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000618 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000639 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0000662 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20260209 HPO RGD 1313150 TRIM32 HP:0000668 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000678 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000691 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000708 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000712 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000716 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000717 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000736 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000739 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000750 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000789 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000818 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000821 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000822 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0000855 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0000858 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0001156 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0001159 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0001249 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0001250 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0001251 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0001257 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0001265 MIM:254110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0001284 MIM:254110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0001288 ORPHA:1878|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0001328 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0001382 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0001395 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0001397 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0001513 MIM:615988|ORPHA:110|PMID:16606853|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20250912 HPO RGD 1313150 TRIM32 HP:0001627 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0001638 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0001762 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0002037 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0002099 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0002155 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0002167 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0002230 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0002251 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0002505 MIM:254110|PMID:11822024|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20250912 HPO RGD 1313150 TRIM32 HP:0002515 MIM:254110|ORPHA:1878|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20250416 HPO RGD 1313150 TRIM32 HP:0002608 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0002910 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0003198 ORPHA:1878|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0003202 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0003233 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0003236 MIM:254110|ORPHA:1878|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20250416 HPO RGD 1313150 TRIM32 HP:0003391 MIM:254110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0003401 MIM:254110|PMID:11822024|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20250912 HPO RGD 1313150 TRIM32 HP:0003457 ORPHA:1878|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0003458 MIM:254110|PMID:11822024|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20250912 HPO RGD 1313150 TRIM32 HP:0003547 MIM:254110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0003557 MIM:254110|ORPHA:1878|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20250416 HPO RGD 1313150 TRIM32 HP:0003560 MIM:254110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0003577 MIM:615988|PMID:16606853|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20250912 HPO RGD 1313150 TRIM32 HP:0003677 MIM:254110|PMID:11822024|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20250912 HPO RGD 1313150 TRIM32 HP:0003687 MIM:254110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0003701 MIM:254110|PMID:11822024|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20250912 HPO RGD 1313150 TRIM32 HP:0003707 MIM:254110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0003722 MIM:254110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0003724 MIM:254110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0003731 MIM:254110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0003738 MIM:254110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0003749 MIM:254110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0004322 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0004408 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0005280 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0005562 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0005769 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0005978 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0006101 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0007126 MIM:254110|PMID:11822024|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20250912 HPO RGD 1313150 TRIM32 HP:0007663 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20260209 HPO RGD 1313150 TRIM32 HP:0008376 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0008724 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0008734 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0008736 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0008915 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0008988 MIM:254110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0008994 ORPHA:1878|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0010442 MIM:615988|PMID:16606853|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20250912 HPO RGD 1313150 TRIM32 HP:0010628 MIM:254110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0010747 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20230821 HPO RGD 1313150 TRIM32 HP:0011024 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0011026 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0011462 MIM:254110|PMID:11822024|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20260209 HPO RGD 1313150 TRIM32 HP:0012384 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0012622 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0012758 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0025691 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0030010 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0100259 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313150 TRIM32 HP:0100543 ORPHA:110|RGD:8699517 IAGP H tripartite motif containing 32 gene taxon:9606 20240118 HPO RGD 1313158 PLEKHA3 HP:0002665 RGD:8554872 IAGP RGD:713742938 H pleckstrin homology domain containing A3 gene taxon:9606 20260519 ClinVar RGD 1313158 PLEKHA3 HP:0005181 RGD:8554872 IAGP RGD:713704433 H pleckstrin homology domain containing A3 gene taxon:9606 20260519 ClinVar RGD 1313158 PLEKHA3 HP:0006770 RGD:8554872 IAGP RGD:713742968 H pleckstrin homology domain containing A3 gene taxon:9606 20260519 ClinVar RGD 1313158 PLEKHA3 HP:0010874 RGD:8554872 IAGP RGD:713704433 H pleckstrin homology domain containing A3 gene taxon:9606 20260519 ClinVar RGD 1313158 PLEKHA3 HP:0033678 RGD:8554872 IAGP RGD:713704433 H pleckstrin homology domain containing A3 gene taxon:9606 20260519 ClinVar RGD 1313158 PLEKHA3 HP:0100615 RGD:8554872 IAGP RGD:713742991 H pleckstrin homology domain containing A3 gene taxon:9606 20260519 ClinVar RGD 1313162 ABHD17B HP:0100242 RGD:8554872 IAGP RGD:713727888 H abhydrolase domain containing 17B, depalmitoylase gene taxon:9606 20260519 ClinVar RGD 1313164 PRDM7 HP:0100526 RGD:8554872 IAGP RGD:714001988 H PR/SET domain 7 gene taxon:9606 20260519 ClinVar RGD 1313167 SNRPE HP:0000006 MIM:615059|PMID:9621144|RGD:8699517 IAGP H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20250912 HPO RGD 1313167 SNRPE HP:0000653 ORPHA:55654|RGD:8699517 IAGP H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20230821 HPO RGD 1313167 SNRPE HP:0000958 PMID:23246290|PMID:25741868|PMID:28492532|PMID:33792916|RGD:8554872 IAGP RGD:8604263 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260602 ClinVar RGD 1313167 SNRPE HP:0001402 RGD:8554872 IAGP RGD:714157303 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260519 ClinVar RGD 1313167 SNRPE HP:0001402 RGD:8554872 IAGP RGD:714157307 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260519 ClinVar RGD 1313167 SNRPE HP:0001402 RGD:8554872 IAGP RGD:714157310 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260519 ClinVar RGD 1313167 SNRPE HP:0001402 RGD:8554872 IAGP RGD:714157313 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260519 ClinVar RGD 1313167 SNRPE HP:0001596 ORPHA:55654|RGD:8699517 IAGP H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20230821 HPO RGD 1313167 SNRPE HP:0001596 PMID:23246290|PMID:25741868|PMID:28492532|PMID:33792916|RGD:8554872 IAGP RGD:8604263 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260602 ClinVar RGD 1313167 SNRPE HP:0001596 RGD:10768831|PMID:23246290 IAGP H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20180814 RGD RGD 1313167 SNRPE HP:0002209 ORPHA:55654|RGD:8699517 IAGP H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20230821 HPO RGD 1313167 SNRPE HP:0002221 MIM:615059|PMID:9621144|RGD:8699517 IAGP H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20250912 HPO RGD 1313167 SNRPE HP:0002231 ORPHA:55654|RGD:8699517 IAGP H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20230821 HPO RGD 1313167 SNRPE HP:0002289 MIM:615059|PMID:9621144|RGD:8699517 IAGP H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20250912 HPO RGD 1313167 SNRPE HP:0002293 PMID:23246290|PMID:25741868|PMID:28492532|PMID:33792916|RGD:8554872 IAGP RGD:8604263 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260602 ClinVar RGD 1313167 SNRPE HP:0002665 PMID:25741868|RGD:8554872 IAGP RGD:405272449 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260519 ClinVar RGD 1313167 SNRPE HP:0002861 RGD:8554872 IAGP RGD:713470816 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260519 ClinVar RGD 1313167 SNRPE HP:0004808 RGD:8554872 IAGP RGD:713610333 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260519 ClinVar RGD 1313167 SNRPE HP:0005597 PMID:23246290|PMID:25741868|PMID:28492532|PMID:33792916|RGD:8554872 IAGP RGD:8604263 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260602 ClinVar RGD 1313167 SNRPE HP:0006725 RGD:8554872 IAGP RGD:713471254 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260519 ClinVar RGD 1313167 SNRPE HP:0006770 RGD:8554872 IAGP RGD:713470833 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260519 ClinVar RGD 1313167 SNRPE HP:0006770 RGD:8554872 IAGP RGD:713470912 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260519 ClinVar RGD 1313167 SNRPE HP:0008064 PMID:23246290|PMID:25741868|PMID:28492532|PMID:33792916|RGD:8554872 IAGP RGD:8604263 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260602 ClinVar RGD 1313167 SNRPE HP:0008070 MIM:615059|ORPHA:55654|PMID:9621144|RGD:8699517 IAGP H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20250912 HPO RGD 1313167 SNRPE HP:0012126 PMID:25741868|RGD:8554872 IAGP RGD:405272449 H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20260519 ClinVar RGD 1313167 SNRPE HP:0045075 ORPHA:55654|RGD:8699517 IAGP H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20230821 HPO RGD 1313167 SNRPE HP:0100840 MIM:615059|PMID:9621144|RGD:8699517 IAGP H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20250912 HPO RGD 1313167 SNRPE HP:0200102 MIM:615059|PMID:9621144|RGD:8699517 IAGP H small nuclear ribonucleoprotein polypeptide E gene taxon:9606 20250912 HPO RGD 1313169 PDZRN3 HP:0004322 RGD:8554872 IAGP RGD:14350115 H PDZ domain containing ring finger 3 gene taxon:9606 20210323 ClinVar RGD 1313169 PDZRN3 HP:0004322 RGD:8554872 IAGP RGD:14350194 H PDZ domain containing ring finger 3 gene taxon:9606 20210323 ClinVar RGD 1313169 PDZRN3 HP:0006770 RGD:8554872 IAGP RGD:713395149 H PDZ domain containing ring finger 3 gene taxon:9606 20260519 ClinVar RGD 1313169 PDZRN3 HP:0011797 RGD:8554872 IAGP RGD:713580837 H PDZ domain containing ring finger 3 gene taxon:9606 20260519 ClinVar RGD 1313169 PDZRN3 HP:0011797 RGD:8554872 IAGP RGD:713732768 H PDZ domain containing ring finger 3 gene taxon:9606 20260519 ClinVar RGD 1313169 PDZRN3 HP:0011797 RGD:8554872 IAGP RGD:713737824 H PDZ domain containing ring finger 3 gene taxon:9606 20260519 ClinVar RGD 1313169 PDZRN3 HP:0012126 RGD:8554872 IAGP RGD:713941755 H PDZ domain containing ring finger 3 gene taxon:9606 20260519 ClinVar RGD 1313169 PDZRN3 HP:0100242 RGD:8554872 IAGP RGD:713395175 H PDZ domain containing ring finger 3 gene taxon:9606 20260519 ClinVar RGD 1313169 PDZRN3 HP:0100526 RGD:8554872 IAGP RGD:713732738 H PDZ domain containing ring finger 3 gene taxon:9606 20260519 ClinVar RGD 1313171 RNF152 HP:0100522 RGD:8554872 IAGP RGD:713754856 H ring finger protein 152 gene taxon:9606 20260519 ClinVar RGD 1313173 RNF135 HP:0000098 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0000179 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0000219 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0000256 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0000267 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0000337 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0000343 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0000365 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0000455 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0000486 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0000494 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0000609 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0000717 PMID:17632510|PMID:21681106|RGD:8554872 IAGP RGD:13784172 H ring finger protein 135 gene taxon:9606 20260519 ClinVar RGD 1313173 RNF135 HP:0000729 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0000729 PMID:30763456|RGD:8554872 IAGP RGD:8555899 H ring finger protein 135 gene taxon:9606 20260602 ClinVar RGD 1313173 RNF135 HP:0000766 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0000768 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0001256 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0001263 PMID:17632510|PMID:21681106|RGD:8554872 IAGP RGD:13784172 H ring finger protein 135 gene taxon:9606 20260519 ClinVar RGD 1313173 RNF135 HP:0001520 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0001548 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0001641 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0001642 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0001999 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0005616 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0008058 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0011098 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0012126 RGD:8554872 IAGP RGD:713670602 H ring finger protein 135 gene taxon:9606 20260707 ClinVar RGD 1313173 RNF135 HP:0012741 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0030680 ORPHA:137634|RGD:8699517 IAGP H ring finger protein 135 gene taxon:9606 20230821 HPO RGD 1313173 RNF135 HP:0100242 RGD:8554872 IAGP RGD:714174153 H ring finger protein 135 gene taxon:9606 20260519 ClinVar RGD 1313174 OTOR HP:0100242 RGD:8554872 IAGP RGD:713696162 H otoraplin gene taxon:9606 20260519 ClinVar RGD 1313178 LRRN4 HP:0100242 RGD:8554872 IAGP RGD:713973089 H leucine rich repeat neuronal 4 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0000006 MIM:610246|MIM:618977|PMID:20208537|PMID:32600459|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260209 HPO RGD 1313183 AFG3L2 HP:0000007 MIM:614487|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260209 HPO RGD 1313183 AFG3L2 HP:0000122 PMID:25741868|RGD:8554872 IAGP RGD:714061909 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0000253 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0000365 MIM:618977|PMID:29181157|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0000407 MIM:618977|PMID:26539208|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0000452 RGD:8554872 IAGP RGD:714110924 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0000473 MIM:618977|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0000496 PMID:20725928|PMID:25741868|RGD:8554872 IAGP RGD:8602214 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0000496 RGD:8554872 IAGP RGD:152156343 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0000501 MIM:618977|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0000504 RGD:8554872 IAGP RGD:152156343 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0000505 PMID:25401298|PMID:25741868|RGD:8554872 IAGP RGD:9691306 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260602 ClinVar RGD 1313183 AFG3L2 HP:0000505 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0000508 MIM:610246|MIM:614487|ORPHA:101109|ORPHA:313772|PMID:16251216|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0000512 MIM:618977|PMID:29181157|PMID:32600459|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0000514 MIM:610246|ORPHA:101109|PMID:16251216|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0000543 MIM:618977|PMID:26539208|PMID:29181157|PMID:32219868|PMID:32600459|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260209 HPO RGD 1313183 AFG3L2 HP:0000551 MIM:618977|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939331 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250107 ClinVar RGD 1313183 AFG3L2 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941533 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250107 ClinVar RGD 1313183 AFG3L2 HP:0000575 MIM:618977|PMID:26539208|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260209 HPO RGD 1313183 AFG3L2 HP:0000587 RGD:8554872 IAGP RGD:152156343 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0000597 MIM:610246|MIM:618977|ORPHA:101109|PMID:16251216|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0000602 PMID:20208537|PMID:25741868|RGD:8554872 IAGP RGD:8596809 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260602 ClinVar RGD 1313183 AFG3L2 HP:0000613 MIM:618977|PMID:26539208|PMID:29181157|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0000618 MIM:618977|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0000639 MIM:618977|ORPHA:101109|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0000639 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0000640 MIM:610246|PMID:16251216|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0000641 MIM:610246|PMID:16251216|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0000642 MIM:618977|PMID:26539208|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0000648 MIM:618977|PMID:29181157|PMID:32219868|PMID:32600459|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0000648 PMID:25741868|PMID:26467025|PMID:28492532|PMID:32219868|RGD:8554872 IAGP RGD:12838079 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20241210 ClinVar RGD 1313183 AFG3L2 HP:0000648 PMID:25741868|PMID:26633542|RGD:8554872 IAGP RGD:243052373 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0000648 PMID:25741868|PMID:32219868|RGD:8554872 IAGP RGD:13706162 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250701 ClinVar RGD 1313183 AFG3L2 HP:0000648 PMID:25741868|RGD:8554872 IAGP RGD:13798989 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260602 ClinVar RGD 1313183 AFG3L2 HP:0000648 PMID:28492532|PMID:32219868|RGD:8554872 IAGP RGD:38464145 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250311 ClinVar RGD 1313183 AFG3L2 HP:0000648 PMID:32219868|RGD:8554872 IAGP RGD:38464149 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20210323 ClinVar RGD 1313183 AFG3L2 HP:0000648 PMID:32219868|RGD:8554872 IAGP RGD:38464154 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20210323 ClinVar RGD 1313183 AFG3L2 HP:0000649 MIM:618977|PMID:29181157|PMID:32600459|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0000649 PMID:25741868|RGD:8554872 IAGP RGD:714061909 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0000657 MIM:614487|ORPHA:313772|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0000707 RGD:8554872 IAGP RGD:152156343 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0000708 ORPHA:101109|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20230821 HPO RGD 1313183 AFG3L2 HP:0000716 MIM:618977|ORPHA:101109|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0000975 PMID:25741868|RGD:8554872 IAGP RGD:155267917 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001010 RGD:8554872 IAGP RGD:152156343 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001138 PMID:32219868|RGD:8554872 IAGP RGD:38464156 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001249 PMID:32219868|RGD:8554872 IAGP RGD:38464143 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001250 PMID:25741868|PMID:26633542|RGD:8554872 IAGP RGD:243052373 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:714061909 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001250 RGD:8554872 IAGP RGD:714110924 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001251 MIM:614487|MIM:618977|ORPHA:313772|PMID:22022284|PMID:26539208|PMID:29181157|PMID:32219868|PMID:32600459|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0001251 RGD:8554872 IAGP RGD:405746150 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001252 MIM:618977|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0001256 MIM:618977|ORPHA:313772|PMID:26539208|PMID:29181157|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0001257 MIM:610246|MIM:614487|MIM:618977|ORPHA:101109|ORPHA:313772|PMID:22022284|PMID:26539208|PMID:29181157|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0001257 PMID:20208537|PMID:25741868|RGD:8554872 IAGP RGD:8596809 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260602 ClinVar RGD 1313183 AFG3L2 HP:0001260 MIM:610246|MIM:614487|ORPHA:101109|PMID:16251216|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0001263 PMID:25401298|PMID:25741868|RGD:8554872 IAGP RGD:9691306 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260602 ClinVar RGD 1313183 AFG3L2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:714061909 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001263 RGD:8554872 IAGP RGD:405746150 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001272 MIM:610246|MIM:614487|ORPHA:313772|PMID:16251216|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0001272 RGD:11532675|PMID:20354562 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20160902 RGD RGD 1313183 AFG3L2 HP:0001272 RGD:11532678|PMID:26868664 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20160902 RGD RGD 1313183 AFG3L2 HP:0001272 RGD:11534993|PMID:24814845 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20160916 RGD RGD 1313183 AFG3L2 HP:0001290 PMID:25401298|PMID:25741868|RGD:8554872 IAGP RGD:9691306 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260602 ClinVar RGD 1313183 AFG3L2 HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001290 RGD:8554872 IAGP RGD:152156343 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001300 MIM:610246|ORPHA:101109|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250416 HPO RGD 1313183 AFG3L2 HP:0001310 MIM:614487|ORPHA:313772|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0001315 PMID:32219868|RGD:8554872 IAGP RGD:38464151 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260707 ClinVar RGD 1313183 AFG3L2 HP:0001317 MIM:618977|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0001317 PMID:25741868|PMID:26467025|PMID:28492532|PMID:32219868|RGD:8554872 IAGP RGD:12838079 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20241210 ClinVar RGD 1313183 AFG3L2 HP:0001321 ORPHA:313772|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20230821 HPO RGD 1313183 AFG3L2 HP:0001332 MIM:610246|MIM:614487|MIM:618977|ORPHA:101109|ORPHA:313772|PMID:22022284|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0001332 PMID:25741868|PMID:26467025|PMID:28492532|PMID:32219868|RGD:8554872 IAGP RGD:12838079 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20241210 ClinVar RGD 1313183 AFG3L2 HP:0001336 MIM:614487|MIM:618977|ORPHA:313772|PMID:22022284|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0001336 RGD:8554872 IAGP RGD:714110924 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001344 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001347 MIM:618977|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0001385 RGD:8554872 IAGP RGD:152156343 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001402 PMID:26467025|PMID:35641312|RGD:8554872 IAGP RGD:12894327 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001469 RGD:8554872 IAGP RGD:152156343 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001508 RGD:8554872 IAGP RGD:714110924 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001531 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001543 PMID:25741868|RGD:8554872 IAGP RGD:714061909 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001629 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001629 RGD:8554872 IAGP RGD:714110924 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001631 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001702 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001712 RGD:8554872 IAGP RGD:714110924 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001730 PMID:25741868|RGD:8554872 IAGP RGD:714061909 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001765 PMID:25741868|RGD:8554872 IAGP RGD:401919998 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0001943 PMID:25741868|RGD:8554872 IAGP RGD:155267917 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002011 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002015 MIM:614487|ORPHA:313772|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0002059 MIM:618977|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0002063 ORPHA:101109|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20230821 HPO RGD 1313183 AFG3L2 HP:0002064 MIM:618977|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0002066 MIM:610246|MIM:618977|ORPHA:101109|PMID:16251216|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0002069 MIM:614487|ORPHA:313772|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0002070 MIM:610246|ORPHA:101109|PMID:16251216|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0002072 MIM:618977|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0002075 MIM:614487|ORPHA:313772|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0002104 RGD:8554872 IAGP RGD:714110924 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002123 MIM:614487|ORPHA:313772|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0002133 RGD:8554872 IAGP RGD:714110924 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002179 RGD:8554872 IAGP RGD:714110924 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002180 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002194 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002268 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002313 MIM:614487|MIM:618977|ORPHA:313772|PMID:22022284|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0002313 PMID:32219868|RGD:8554872 IAGP RGD:38464149 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20210323 ClinVar RGD 1313183 AFG3L2 HP:0002346 ORPHA:101109|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20230821 HPO RGD 1313183 AFG3L2 HP:0002353 ORPHA:313772|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20230821 HPO RGD 1313183 AFG3L2 HP:0002354 ORPHA:101109|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20230821 HPO RGD 1313183 AFG3L2 HP:0002395 MIM:610246|ORPHA:101109|PMID:16251216|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0002415 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002451 ORPHA:101109|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20230821 HPO RGD 1313183 AFG3L2 HP:0002460 ORPHA:313772|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20230821 HPO RGD 1313183 AFG3L2 HP:0002464 ORPHA:313772|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20230821 HPO RGD 1313183 AFG3L2 HP:0002474 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002487 MIM:618977|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0002487 PMID:25741868|PMID:26467025|PMID:28492532|PMID:32219868|RGD:8554872 IAGP RGD:12838079 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20241210 ClinVar RGD 1313183 AFG3L2 HP:0002495 PMID:25741868|RGD:8554872 IAGP RGD:401919998 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002497 MIM:614487|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0002497 PMID:25741868|RGD:8554872 IAGP RGD:150447379 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20211012 ClinVar RGD 1313183 AFG3L2 HP:0002497 PMID:25741868|RGD:8554872 IAGP RGD:150447403 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20211012 ClinVar RGD 1313183 AFG3L2 HP:0002500 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002506 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002509 RGD:8554872 IAGP RGD:714110924 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002521 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002529 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002719 RGD:8554872 IAGP RGD:152156343 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0002721 RGD:8554872 IAGP RGD:152156343 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0003006 PMID:25741868|RGD:8554872 IAGP RGD:13798989 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260602 ClinVar RGD 1313183 AFG3L2 HP:0003077 PMID:28492532|RGD:8554872 IAGP RGD:40887233 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0003200 MIM:610246|PMID:16251216|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0003212 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0003237 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0003261 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0003324 PMID:25741868|RGD:8554872 IAGP RGD:401919998 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0003383 MIM:614487|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0003429 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0003474 MIM:610246|PMID:16251216|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0003477 MIM:618977|ORPHA:313772|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0003487 MIM:610246|ORPHA:101109|PMID:16251216|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0003593 MIM:614487|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0003596 MIM:618977|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0003621 MIM:610246|MIM:618977|PMID:16251216|PMID:26539208|PMID:29181157|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260209 HPO RGD 1313183 AFG3L2 HP:0003676 MIM:614487|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0003677 MIM:610246|PMID:16251216|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0003693 MIM:614487|ORPHA:313772|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0003750 PMID:25741868|RGD:8554872 IAGP RGD:401919998 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0004387 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0006532 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0006770 RGD:8554872 IAGP RGD:713727660 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0006770 RGD:8554872 IAGP RGD:713727682 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0006808 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0006863 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0006895 MIM:610246|PMID:16251216|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0006934 MIM:618977|PMID:26539208|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0006934 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0006958 PMID:25741868|RGD:8554872 IAGP RGD:714061909 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0007002 PMID:25741868|RGD:8554872 IAGP RGD:401919998 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0007009 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0007108 ORPHA:313772|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20230821 HPO RGD 1313183 AFG3L2 HP:0007141 MIM:614487|ORPHA:313772|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0007266 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0007302 PMID:25741868|RGD:8554872 IAGP RGD:151233680 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0007305 MIM:618977|PMID:32600459|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0007305 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0007340 MIM:614487|ORPHA:313772|PMID:22022284|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0007367 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0007369 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0007641 MIM:618977|PMID:29181157|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0007663 MIM:618977|PMID:26539208|PMID:29181157|PMID:32219868|PMID:32600459|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260209 HPO RGD 1313183 AFG3L2 HP:0007695 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0007970 PMID:25401298|PMID:25741868|RGD:8554872 IAGP RGD:9691306 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260602 ClinVar RGD 1313183 AFG3L2 HP:0008316 ORPHA:313772|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20230821 HPO RGD 1313183 AFG3L2 HP:0008619 MIM:618977|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0008963 PMID:25741868|RGD:8554872 IAGP RGD:401919998 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0009830 MIM:618977|PMID:29181157|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0010862 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0010863 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0010864 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0011097 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0011100 PMID:25741868|RGD:8554872 IAGP RGD:714061909 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0011344 PMID:25741868|RGD:8554872 IAGP RGD:13798989 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260602 ClinVar RGD 1313183 AFG3L2 HP:0011352 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0011400 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0011443 RGD:8554872 IAGP RGD:152156343 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0011443 RGD:8554872 IAGP RGD:405746150 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0011462 MIM:610246|MIM:618977|PMID:16251216|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260209 HPO RGD 1313183 AFG3L2 HP:0011463 MIM:614487|MIM:618977|PMID:22022284|PMID:32219868|PMID:32600459|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260209 HPO RGD 1313183 AFG3L2 HP:0011797 RGD:8554872 IAGP RGD:714187038 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0011804 RGD:8554872 IAGP RGD:152156343 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0011922 MIM:610246|PMID:16251216|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0011968 RGD:8554872 IAGP RGD:152156343 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0012240 MIM:614487|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20230821 HPO RGD 1313183 AFG3L2 HP:0012443 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0012444 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0012444 RGD:8554872 IAGP RGD:714110924 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0012469 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0012547 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0012736 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0020119 MIM:618977|PMID:32219868|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313183 AFG3L2 HP:0025335 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0025336 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0030186 ORPHA:101109|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20230821 HPO RGD 1313183 AFG3L2 HP:0030586 MIM:618977|PMID:29181157|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250912 HPO RGD 1313183 AFG3L2 HP:0031165 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0031921 PMID:25741868|RGD:8554872 IAGP RGD:401919998 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0031936 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0032064 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0100022 RGD:8554872 IAGP RGD:152156343 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0100522 RGD:8554872 IAGP RGD:713727646 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0100543 MIM:614487|ORPHA:101109|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20250416 HPO RGD 1313183 AFG3L2 HP:0100543 RGD:8554872 IAGP RGD:152156343 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0100543 RGD:8554872 IAGP RGD:405746150 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:0100704 PMID:25741868|RGD:8554872 IAGP RGD:13482358 H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313183 AFG3L2 HP:6000397 MIM:618977|PMID:32600459|RGD:8699517 IAGP H AFG3 like matrix AAA peptidase subunit 2 gene taxon:9606 20251023 HPO RGD 1313187 GOLGA3 HP:0001402 RGD:8554872 IAGP RGD:713351220 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0002861 RGD:8554872 IAGP RGD:713686250 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0002861 RGD:8554872 IAGP RGD:713686263 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0004808 RGD:8554872 IAGP RGD:714038630 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0004808 RGD:8554872 IAGP RGD:714038656 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0004808 RGD:8554872 IAGP RGD:714041496 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0006770 RGD:8554872 IAGP RGD:713685933 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0006770 RGD:8554872 IAGP RGD:713686288 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0007716 RGD:8554872 IAGP RGD:714041535 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0011797 RGD:8554872 IAGP RGD:714038672 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0011797 RGD:8554872 IAGP RGD:714044328 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0012126 RGD:8554872 IAGP RGD:713623312 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0012126 RGD:8554872 IAGP RGD:713623319 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0012126 RGD:8554872 IAGP RGD:713623324 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0012126 RGD:8554872 IAGP RGD:713623327 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0012126 RGD:8554872 IAGP RGD:713623333 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0012126 RGD:8554872 IAGP RGD:713623337 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0012126 RGD:8554872 IAGP RGD:713623340 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0012126 RGD:8554872 IAGP RGD:713623351 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0012126 RGD:8554872 IAGP RGD:713985992 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0012126 RGD:8554872 IAGP RGD:714038656 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0012126 RGD:8554872 IAGP RGD:714041552 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0012126 RGD:8554872 IAGP RGD:714047026 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0030153 RGD:8554872 IAGP RGD:713361740 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0030153 RGD:8554872 IAGP RGD:714038656 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0030359 RGD:8554872 IAGP RGD:713686197 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0100242 RGD:8554872 IAGP RGD:713685973 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0100242 RGD:8554872 IAGP RGD:713686173 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0100242 RGD:8554872 IAGP RGD:713686224 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0100242 RGD:8554872 IAGP RGD:714038641 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0100242 RGD:8554872 IAGP RGD:714038656 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0100242 RGD:8554872 IAGP RGD:714041646 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0100522 RGD:8554872 IAGP RGD:713685998 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0100522 RGD:8554872 IAGP RGD:713686025 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0100522 RGD:8554872 IAGP RGD:714046985 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313187 GOLGA3 HP:0100526 RGD:8554872 IAGP RGD:713623315 H golgin A3 gene taxon:9606 20260707 ClinVar RGD 1313187 GOLGA3 HP:0100526 RGD:8554872 IAGP RGD:713686234 H golgin A3 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0001402 RGD:8554872 IAGP RGD:714264040 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0001402 RGD:8554872 IAGP RGD:714264045 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0002861 RGD:8554872 IAGP RGD:713681963 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0002861 RGD:8554872 IAGP RGD:713681978 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0006770 RGD:8554872 IAGP RGD:713682113 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0011797 RGD:8554872 IAGP RGD:714042496 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0012126 RGD:8554872 IAGP RGD:713523671 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0012126 RGD:8554872 IAGP RGD:713523693 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0012126 RGD:8554872 IAGP RGD:713523706 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0012126 RGD:8554872 IAGP RGD:713523730 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0012126 RGD:8554872 IAGP RGD:714045256 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260707 ClinVar RGD 1313189 ASAP2 HP:0030359 RGD:8554872 IAGP RGD:713681992 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0100242 RGD:8554872 IAGP RGD:713523693 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0100242 RGD:8554872 IAGP RGD:713681926 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0100242 RGD:8554872 IAGP RGD:713682126 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0100242 RGD:8554872 IAGP RGD:713682162 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0100526 RGD:8554872 IAGP RGD:713523693 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313189 ASAP2 HP:0100526 RGD:8554872 IAGP RGD:713682087 H ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0001402 RGD:8554872 IAGP RGD:714079654 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0001402 RGD:8554872 IAGP RGD:714079667 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0001402 RGD:8554872 IAGP RGD:714156237 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0002665 RGD:8554872 IAGP RGD:713727473 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0002665 RGD:8554872 IAGP RGD:714120250 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0002665 RGD:8554872 IAGP RGD:714156237 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0003003 RGD:8554872 IAGP RGD:714120250 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0004808 RGD:8554872 IAGP RGD:714156237 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0006770 RGD:8554872 IAGP RGD:713727460 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0006770 RGD:8554872 IAGP RGD:714120250 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0006770 RGD:8554872 IAGP RGD:714156237 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0012126 RGD:8554872 IAGP RGD:713448336 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0012126 RGD:8554872 IAGP RGD:714156237 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0100242 RGD:8554872 IAGP RGD:714156237 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0100522 RGD:8554872 IAGP RGD:713727444 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0100615 RGD:8554872 IAGP RGD:713557007 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0100615 RGD:8554872 IAGP RGD:714120250 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313192 PHF10 HP:0100615 RGD:8554872 IAGP RGD:714156237 H PHD finger protein 10 gene taxon:9606 20260519 ClinVar RGD 1313196 AMOTL1 HP:0000006 MIM:621192|PMID:30375152|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000076 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000098 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000098 PMID:25741868|PMID:30375152|RGD:8554872 IAGP RGD:730468362 H angiomotin like 1 gene taxon:9606 20260616 ClinVar RGD 1313196 AMOTL1 HP:0000126 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000143 MIM:621192|PMID:33026150|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000162 MIM:621192|PMID:30375152|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000175 MIM:621192|PMID:30375152|PMID:33026150|PMID:36751037|PMID:39538375|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000175 PMID:25741868|PMID:30375152|PMID:36751037|RGD:8554872 IAGP RGD:616938693 H angiomotin like 1 gene taxon:9606 20260707 ClinVar RGD 1313196 AMOTL1 HP:0000175 RGD:8554872 IAGP RGD:714110606 H angiomotin like 1 gene taxon:9606 20260519 ClinVar RGD 1313196 AMOTL1 HP:0000193 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000202 PMID:25741868|PMID:30375152|RGD:8554872 IAGP RGD:730468362 H angiomotin like 1 gene taxon:9606 20260616 ClinVar RGD 1313196 AMOTL1 HP:0000218 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000219 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000286 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000303 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000308 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000311 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000316 MIM:621192|PMID:33026150|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000316 PMID:25741868|PMID:28492532|PMID:33026150|PMID:36751037|RGD:8554872 IAGP RGD:39457041 H angiomotin like 1 gene taxon:9606 20240319 ClinVar RGD 1313196 AMOTL1 HP:0000327 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000337 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000347 MIM:621192|PMID:30375152|PMID:33026150|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000363 RGD:8554872 IAGP RGD:714110606 H angiomotin like 1 gene taxon:9606 20260519 ClinVar RGD 1313196 AMOTL1 HP:0000365 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000385 MIM:621192|PMID:33026150|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000400 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000403 MIM:621192|PMID:36751037|PMID:39538375|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000407 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000410 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000411 MIM:621192|PMID:33026150|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000494 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000506 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000508 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000520 MIM:621192|PMID:36751037|PMID:39538375|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000545 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000592 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000601 RGD:8554872 IAGP RGD:714110606 H angiomotin like 1 gene taxon:9606 20260519 ClinVar RGD 1313196 AMOTL1 HP:0000627 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000656 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000668 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000717 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000776 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000978 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0000989 MIM:621192|PMID:39538375|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001182 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001250 PMID:25741868|PMID:30375152|RGD:8554872 IAGP RGD:730468362 H angiomotin like 1 gene taxon:9606 20260616 ClinVar RGD 1313196 AMOTL1 HP:0001252 MIM:621192|PMID:33026150|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001252 PMID:25741868|PMID:30375152|PMID:36751037|RGD:8554872 IAGP RGD:616938693 H angiomotin like 1 gene taxon:9606 20260707 ClinVar RGD 1313196 AMOTL1 HP:0001263 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001263 PMID:25741868|PMID:30375152|RGD:8554872 IAGP RGD:730468362 H angiomotin like 1 gene taxon:9606 20260616 ClinVar RGD 1313196 AMOTL1 HP:0001270 PMID:25741868|PMID:30375152|PMID:36751037|RGD:8554872 IAGP RGD:616938693 H angiomotin like 1 gene taxon:9606 20260707 ClinVar RGD 1313196 AMOTL1 HP:0001342 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001395 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001396 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001402 RGD:8554872 IAGP RGD:713350539 H angiomotin like 1 gene taxon:9606 20260519 ClinVar RGD 1313196 AMOTL1 HP:0001537 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001622 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001629 MIM:621192|PMID:30375152|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001631 MIM:621192|PMID:36751037|PMID:39538375|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001631 RGD:8554872 IAGP RGD:714110606 H angiomotin like 1 gene taxon:9606 20260519 ClinVar RGD 1313196 AMOTL1 HP:0001634 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001635 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001636 MIM:621192|PMID:30375152|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001636 RGD:8554872 IAGP RGD:714110606 H angiomotin like 1 gene taxon:9606 20260519 ClinVar RGD 1313196 AMOTL1 HP:0001642 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001760 RGD:8554872 IAGP RGD:714110606 H angiomotin like 1 gene taxon:9606 20260519 ClinVar RGD 1313196 AMOTL1 HP:0001763 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001875 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0001919 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0002015 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0002019 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0002020 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0002023 MIM:621192|PMID:33026150|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0002092 MIM:621192|PMID:39538375|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0002099 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0002144 MIM:621192|PMID:33026150|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0002280 MIM:621192|PMID:30375152|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0002650 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0002714 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0002870 MIM:621192|PMID:30375152|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0002910 MIM:621192|PMID:36751037|PMID:39538375|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0002967 MIM:621192|PMID:39538375|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0003186 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0003236 PMID:25741868|PMID:30375152|PMID:36751037|RGD:8554872 IAGP RGD:616938693 H angiomotin like 1 gene taxon:9606 20260707 ClinVar RGD 1313196 AMOTL1 HP:0003256 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0003577 MIM:621192|PMID:30375152|PMID:33026150|PMID:36751037|PMID:39538375|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0004209 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0004808 RGD:8554872 IAGP RGD:714098284 H angiomotin like 1 gene taxon:9606 20260519 ClinVar RGD 1313196 AMOTL1 HP:0004808 RGD:8554872 IAGP RGD:714102074 H angiomotin like 1 gene taxon:9606 20260519 ClinVar RGD 1313196 AMOTL1 HP:0004808 RGD:8554872 IAGP RGD:714102085 H angiomotin like 1 gene taxon:9606 20260519 ClinVar RGD 1313196 AMOTL1 HP:0005280 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0005304 RGD:8554872 IAGP RGD:714110606 H angiomotin like 1 gene taxon:9606 20260519 ClinVar RGD 1313196 AMOTL1 HP:0005401 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0005487 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0005616 MIM:621192|PMID:30375152|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0007018 MIM:621192|PMID:36751037|PMID:39538375|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0008770 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0009623 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0009890 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0009891 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0009905 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0009916 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0010812 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0010864 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0011003 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0011318 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0011327 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0011426 MIM:621192|PMID:33026150|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0011568 MIM:621192|PMID:30375152|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0011800 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0011831 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0011968 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0012393 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0012412 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0012450 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0012741 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0025267 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0030153 RGD:8554872 IAGP RGD:714029133 H angiomotin like 1 gene taxon:9606 20260707 ClinVar RGD 1313196 AMOTL1 HP:0030713 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0030747 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0033677 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0040223 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0100333 MIM:621192|PMID:30375152|PMID:33026150|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0100334 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0100336 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0100337 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0100807 MIM:621192|PMID:33026150|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0410030 MIM:621192|PMID:36751037|PMID:39538375|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:0410034 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313196 AMOTL1 HP:5201016 MIM:621192|PMID:36751037|RGD:8699517 IAGP H angiomotin like 1 gene taxon:9606 20260423 HPO RGD 1313199 TOPORS HP:0000006 MIM:609923|PMID:17924349|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260209 HPO RGD 1313199 TOPORS HP:0000104 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000175 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000180 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000190 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000199 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000218 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000276 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000286 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000316 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000347 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000358 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240815 HPO RGD 1313199 TOPORS HP:0000405 ORPHA:2754|ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250416 HPO RGD 1313199 TOPORS HP:0000407 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000426 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000455 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000501 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000505 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000510 MIM:609923|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260209 HPO RGD 1313199 TOPORS HP:0000510 PMID:18509552|RGD:8554872 IAGP RGD:13435146 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260602 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:19373681|PMID:22334370|PMID:28492532|RGD:8554872 IAGP RGD:13519404 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260707 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10048520 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260707 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11602689 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230110 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11612401 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20241008 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|PMID:30718709|RGD:8554872 IAGP RGD:14698549 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240402 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11602421 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11604093 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20241112 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11606581 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20241112 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11607211 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20220510 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11607510 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20220510 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11610941 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260707 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11647736 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210511 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:13489011 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230214 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28874715 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230214 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28874718 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210406 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28874724 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210608 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28879584 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210608 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28879586 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210706 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28879596 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210608 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28881542 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20220510 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28881546 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210406 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28881553 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210706 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28888007 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210706 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28888014 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230214 ClinVar RGD 1313199 TOPORS HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28888019 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:11598753 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:11603699 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:11605425 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:11605737 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:11608233 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:11644964 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:11660326 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:11661076 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:21075892 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:21405197 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28877612 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28877618 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28877620 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28877624 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28879370 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28879375 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28879592 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28879603 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28881549 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28881558 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28885293 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28887765 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28887887 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28887892 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28887896 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000510 RGD:8554872 IAGP RGD:28888187 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000512 MIM:609923|ORPHA:791|PMID:17924349|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250912 HPO RGD 1313199 TOPORS HP:0000543 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260209 HPO RGD 1313199 TOPORS HP:0000546 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240118 HPO RGD 1313199 TOPORS HP:0000551 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20241212 HPO RGD 1313199 TOPORS HP:0000556 PMID:17924349|PMID:18509552|PMID:22581970|PMID:23950152|PMID:26155838|PMID:26872967|PMID:28076437|PMID:28453362|PMID:28492532|RGD:8554872 IAGP RGD:11051476 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230214 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:17924349|PMID:25741868|PMID:28492532|PMID:32531858|PMID:35579903|PMID:37734845|RGD:8554872 IAGP RGD:40890194 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260519 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11602689 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240409 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126774734 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250107 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13212260 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250107 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151759140 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250107 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15201222 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250107 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156255499 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250107 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26891346 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250107 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26909454 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250506 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28881538 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250107 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939306 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250107 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939440 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250107 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941692 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250107 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596942768 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250107 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944095 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250107 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26909875 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20220420 ClinVar RGD 1313199 TOPORS HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26911056 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20220420 ClinVar RGD 1313199 TOPORS HP:0000556 RGD:8554872 IAGP RGD:26909387 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000556 RGD:8554872 IAGP RGD:26909694 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000556 RGD:8554872 IAGP RGD:26910602 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0000556 RGD:8554872 IAGP RGD:401730730 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240409 ClinVar RGD 1313199 TOPORS HP:0000556 RGD:8554872 IAGP RGD:405262918 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240409 ClinVar RGD 1313199 TOPORS HP:0000556 RGD:8554872 IAGP RGD:405262919 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240409 ClinVar RGD 1313199 TOPORS HP:0000556 RGD:8554872 IAGP RGD:405262920 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240409 ClinVar RGD 1313199 TOPORS HP:0000556 RGD:8554872 IAGP RGD:405262924 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240409 ClinVar RGD 1313199 TOPORS HP:0000556 RGD:8554872 IAGP RGD:405262925 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240409 ClinVar RGD 1313199 TOPORS HP:0000556 RGD:8554872 IAGP RGD:405262928 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240409 ClinVar RGD 1313199 TOPORS HP:0000556 RGD:8554872 IAGP RGD:405262929 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240409 ClinVar RGD 1313199 TOPORS HP:0000556 RGD:8554872 IAGP RGD:405263043 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240409 ClinVar RGD 1313199 TOPORS HP:0000556 RGD:8554872 IAGP RGD:405263044 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240409 ClinVar RGD 1313199 TOPORS HP:0000563 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000565 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000602 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000613 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000618 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000639 ORPHA:2754|ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250416 HPO RGD 1313199 TOPORS HP:0000648 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0000648 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156338396 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250107 ClinVar RGD 1313199 TOPORS HP:0000648 PMID:25741868|RGD:8554872 IAGP RGD:155796928 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250107 ClinVar RGD 1313199 TOPORS HP:0000648 PMID:25741868|RGD:8554872 IAGP RGD:596944589 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250107 ClinVar RGD 1313199 TOPORS HP:0000662 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260209 HPO RGD 1313199 TOPORS HP:0000842 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001105 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20241212 HPO RGD 1313199 TOPORS HP:0001123 MIM:609923|PMID:17924349|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250912 HPO RGD 1313199 TOPORS HP:0001139 PMID:25741868|RGD:8554872 IAGP RGD:617153492 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250708 ClinVar RGD 1313199 TOPORS HP:0001156 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001159 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001161 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001249 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001250 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001251 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001252 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001263 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001288 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001290 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001320 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001337 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001508 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001510 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001627 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0001829 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0002007 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0002104 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0002269 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0002419 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0002444 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0002553 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0002876 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0004322 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0004422 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0006145 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0006725 RGD:8554872 IAGP RGD:714229418 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260519 ClinVar RGD 1313199 TOPORS HP:0006770 RGD:8554872 IAGP RGD:714229427 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260519 ClinVar RGD 1313199 TOPORS HP:0007036 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0007370 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0007663 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260209 HPO RGD 1313199 TOPORS HP:0007675 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0007703 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0007703 PMID:25741868|PMID:26720483|PMID:28492532|RGD:8554872 IAGP RGD:13612115 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230214 ClinVar RGD 1313199 TOPORS HP:0007703 PMID:25741868|RGD:8554872 IAGP RGD:13612112 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20210323 ClinVar RGD 1313199 TOPORS HP:0007722 MIM:609923|PMID:17924349|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250912 HPO RGD 1313199 TOPORS HP:0007737 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260209 HPO RGD 1313199 TOPORS HP:0007787 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240118 HPO RGD 1313199 TOPORS HP:0007843 MIM:609923|ORPHA:791|PMID:17924349|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260209 HPO RGD 1313199 TOPORS HP:0007994 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240118 HPO RGD 1313199 TOPORS HP:0008046 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0008678 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0008689 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0008872 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0009084 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0011505 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20241212 HPO RGD 1313199 TOPORS HP:0011802 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0011804 RGD:8554872 IAGP RGD:13509839 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260519 ClinVar RGD 1313199 TOPORS HP:0012125 RGD:8554872 IAGP RGD:9686879 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20250708 ClinVar RGD 1313199 TOPORS HP:0012426 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20241212 HPO RGD 1313199 TOPORS HP:0030359 RGD:8554872 IAGP RGD:714229423 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260519 ClinVar RGD 1313199 TOPORS HP:0030466 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20241212 HPO RGD 1313199 TOPORS HP:0030488 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20241212 HPO RGD 1313199 TOPORS HP:0030610 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20241212 HPO RGD 1313199 TOPORS HP:0030786 ORPHA:791|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20240118 HPO RGD 1313199 TOPORS HP:0040019 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0100242 RGD:8554872 IAGP RGD:714229411 H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20260519 ClinVar RGD 1313199 TOPORS HP:0100258 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313199 TOPORS HP:0100260 ORPHA:2754|RGD:8699517 IAGP H TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene taxon:9606 20230821 HPO RGD 1313202 SNAPC5 HP:0001657 RGD:8554872 IAGP RGD:10398613 H small nuclear RNA activating complex polypeptide 5 gene taxon:9606 20260602 ClinVar RGD 1313202 SNAPC5 HP:0100242 RGD:8554872 IAGP RGD:713764545 H small nuclear RNA activating complex polypeptide 5 gene taxon:9606 20260519 ClinVar RGD 1313204 LIMS2 HP:0000007 MIM:616827|PMID:25589244|RGD:8699517 IAGP H LIM zinc finger domain containing 2 gene taxon:9606 20250912 HPO RGD 1313204 LIMS2 HP:0000158 MIM:616827|PMID:25589244|RGD:8699517 IAGP H LIM zinc finger domain containing 2 gene taxon:9606 20250912 HPO RGD 1313204 LIMS2 HP:0001324 MIM:616827|RGD:8699517 IAGP H LIM zinc finger domain containing 2 gene taxon:9606 20250814 HPO RGD 1313204 LIMS2 HP:0001644 MIM:616827|PMID:25589244|RGD:8699517 IAGP H LIM zinc finger domain containing 2 gene taxon:9606 20250912 HPO RGD 1313204 LIMS2 HP:0001762 MIM:616827|PMID:25589244|RGD:8699517 IAGP H LIM zinc finger domain containing 2 gene taxon:9606 20250912 HPO RGD 1313204 LIMS2 HP:0001888 RGD:8554872 IAGP RGD:152978585 H LIM zinc finger domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1313204 LIMS2 HP:0002273 MIM:616827|PMID:25589244|RGD:8699517 IAGP H LIM zinc finger domain containing 2 gene taxon:9606 20250912 HPO RGD 1313204 LIMS2 HP:0002861 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:126735272 H LIM zinc finger domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1313204 LIMS2 HP:0003202 MIM:616827|PMID:25589244|RGD:8699517 IAGP H LIM zinc finger domain containing 2 gene taxon:9606 20250912 HPO RGD 1313204 LIMS2 HP:0003236 MIM:616827|PMID:25589244|RGD:8699517 IAGP H LIM zinc finger domain containing 2 gene taxon:9606 20250912 HPO RGD 1313204 LIMS2 HP:0003560 MIM:616827|RGD:8699517 IAGP H LIM zinc finger domain containing 2 gene taxon:9606 20250814 HPO RGD 1313204 LIMS2 HP:0003560 PMID:25741868|RGD:8554872 IAGP RGD:401856630 H LIM zinc finger domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1313204 LIMS2 HP:0003676 MIM:616827|RGD:8699517 IAGP H LIM zinc finger domain containing 2 gene taxon:9606 20250814 HPO RGD 1313204 LIMS2 HP:0006673 MIM:616827|PMID:25589244|RGD:8699517 IAGP H LIM zinc finger domain containing 2 gene taxon:9606 20250912 HPO RGD 1313204 LIMS2 HP:0008981 MIM:616827|PMID:25589244|RGD:8699517 IAGP H LIM zinc finger domain containing 2 gene taxon:9606 20250912 HPO RGD 1313204 LIMS2 HP:0009025 MIM:616827|RGD:8699517 IAGP H LIM zinc finger domain containing 2 gene taxon:9606 20250814 HPO RGD 1313204 LIMS2 HP:0011463 MIM:616827|PMID:25589244|RGD:8699517 IAGP H LIM zinc finger domain containing 2 gene taxon:9606 20250912 HPO RGD 1313204 LIMS2 HP:0030284 MIM:616827|PMID:25589244|RGD:8699517 IAGP H LIM zinc finger domain containing 2 gene taxon:9606 20250912 HPO RGD 1313204 LIMS2 HP:0100522 RGD:8554872 IAGP RGD:713712417 H LIM zinc finger domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0000003 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0000006 MIM:113000|PMID:10986040|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20251023 HPO RGD 1313207 ROR2 HP:0000007 MIM:268310|PMID:10932186|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0000023 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000028 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000047 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000047 RGD:8554872 IAGP RGD:405718687 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0000054 MIM:113000|MIM:268310|PMID:10986040|PMID:15952209|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000054 RGD:8554872 IAGP RGD:15040406 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0000059 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000060 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0000064 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000075 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0000121 MIM:268310|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000126 MIM:268310|ORPHA:1507|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000154 MIM:268310|ORPHA:1507|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000158 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0000164 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0000164 PMID:24932600|PMID:25741868|PMID:36294409|PMID:38504427|RGD:8554872 IAGP RGD:126727554 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0000171 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000174 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0000175 RGD:8554872 IAGP RGD:405718687 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0000175 RGD:8554872 IAGP RGD:713891395 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0000189 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000202 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000202 RGD:8554872 IAGP RGD:405718687 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0000207 MIM:268310|PMID:15952209|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000212 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000212 RGD:8554872 IAGP RGD:15040406 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0000219 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000256 MIM:268310|ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250416 HPO RGD 1313207 ROR2 HP:0000260 MIM:113000|MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250416 HPO RGD 1313207 ROR2 HP:0000270 MIM:113000|MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250416 HPO RGD 1313207 ROR2 HP:0000272 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0000278 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000286 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0000316 MIM:268310|ORPHA:1507|PMID:15952209|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000316 RGD:8554872 IAGP RGD:15040406 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0000322 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000343 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0000347 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000358 MIM:268310|ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250416 HPO RGD 1313207 ROR2 HP:0000365 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20251023 HPO RGD 1313207 ROR2 HP:0000369 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000389 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0000431 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000431 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0000445 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0000455 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0000463 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000470 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0000486 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000494 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000508 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000508 RGD:8554872 IAGP RGD:714059365 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0000520 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0000527 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000545 RGD:8554872 IAGP RGD:714059365 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0000582 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000592 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0000637 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000668 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0000678 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0000696 MIM:113000|MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250416 HPO RGD 1313207 ROR2 HP:0000767 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0000768 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0000787 MIM:268310|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000902 MIM:268310|ORPHA:1507|PMID:15952209|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000902 RGD:8554872 IAGP RGD:15040406 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0000921 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0000954 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0000960 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0000995 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0001052 MIM:268310|ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250416 HPO RGD 1313207 ROR2 HP:0001156 MIM:268310|ORPHA:1507|PMID:15952209|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0001156 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0001156 RGD:8554872 IAGP RGD:11600989 H ROR family WNT receptor 2 gene taxon:9606 20210323 ClinVar RGD 1313207 ROR2 HP:0001156 RGD:8554872 IAGP RGD:15040406 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0001159 MIM:113000|MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0001171 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0001204 RGD:11537345|PMID:23238279 IAGP H ROR family WNT receptor 2 gene taxon:9606 20160930 RGD RGD 1313207 ROR2 HP:0001249 MIM:268310|ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0001263 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0001377 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0001382 MIM:268310|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0001522 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0001537 MIM:268310|ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250416 HPO RGD 1313207 ROR2 HP:0001596 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0001627 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0001629 MIM:113000|ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250416 HPO RGD 1313207 ROR2 HP:0001631 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0001636 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0001641 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0001679 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0001702 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0001705 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0001770 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0001773 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0001792 MIM:268310|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0001792 RGD:8554872 IAGP RGD:15040406 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0001798 MIM:113000|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0001804 MIM:113000|PMID:9973295|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0001837 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0001852 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0001853 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0001989 PMID:25741868|PMID:28492532|PMID:31680123|RGD:8554872 IAGP RGD:13836512 H ROR family WNT receptor 2 gene taxon:9606 20210323 ClinVar RGD 1313207 ROR2 HP:0002007 MIM:268310|ORPHA:1507|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0002164 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0002164 RGD:11537345|PMID:23238279 IAGP H ROR family WNT receptor 2 gene taxon:9606 20160930 RGD RGD 1313207 ROR2 HP:0002176 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0002205 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0002263 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0002353 RGD:8554872 IAGP RGD:714059365 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0002650 MIM:268310|ORPHA:1507|PMID:15952209|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20251023 HPO RGD 1313207 ROR2 HP:0002650 RGD:8554872 IAGP RGD:714059365 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0002714 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:11578330 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0002750 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0002804 PMID:25741868|PMID:28492532|PMID:31680123|RGD:8554872 IAGP RGD:13836512 H ROR family WNT receptor 2 gene taxon:9606 20220510 ClinVar RGD 1313207 ROR2 HP:0002808 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0002827 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0002937 MIM:113000|MIM:268310|PMID:15952209|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0002944 MIM:113000|MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250416 HPO RGD 1313207 ROR2 HP:0002947 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0002948 MIM:113000|MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250416 HPO RGD 1313207 ROR2 HP:0002984 MIM:268310|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0002986 MIM:268310|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0003026 MIM:113000|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0003026 RGD:8554872 IAGP RGD:127274410 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0003026 RGD:8554872 IAGP RGD:405718687 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0003027 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0003027 PMID:25741868|RGD:8554872 IAGP RGD:40886529 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0003042 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0003083 MIM:268310|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0003196 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0003272 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0003416 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0003422 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0003422 RGD:8554872 IAGP RGD:15040406 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0003498 RGD:8554872 IAGP RGD:713595915 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0003510 RGD:8554872 IAGP RGD:713595915 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0003577 MIM:268310|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0004209 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0004220 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0004279 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0004322 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0004322 PMID:10932186|PMID:10932187|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126909894 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0004322 PMID:25741868|PMID:28492532|PMID:31680123|RGD:8554872 IAGP RGD:13836512 H ROR family WNT receptor 2 gene taxon:9606 20210406 ClinVar RGD 1313207 ROR2 HP:0004322 PMID:25741868|PMID:28492532|PMID:33937263|RGD:8554872 IAGP RGD:126730154 H ROR family WNT receptor 2 gene taxon:9606 20230214 ClinVar RGD 1313207 ROR2 HP:0004322 PMID:25741868|PMID:28492532|PMID:33937263|RGD:8554872 IAGP RGD:126730155 H ROR family WNT receptor 2 gene taxon:9606 20230214 ClinVar RGD 1313207 ROR2 HP:0004322 PMID:25741868|PMID:28492532|PMID:33937263|RGD:8554872 IAGP RGD:126730163 H ROR family WNT receptor 2 gene taxon:9606 20240403 ClinVar RGD 1313207 ROR2 HP:0004322 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11600718 H ROR family WNT receptor 2 gene taxon:9606 20250211 ClinVar RGD 1313207 ROR2 HP:0004322 PMID:28492532|RGD:8554872 IAGP RGD:11606089 H ROR family WNT receptor 2 gene taxon:9606 20241112 ClinVar RGD 1313207 ROR2 HP:0004322 PMID:28492532|RGD:8554872 IAGP RGD:126730144 H ROR family WNT receptor 2 gene taxon:9606 20220510 ClinVar RGD 1313207 ROR2 HP:0004322 PMID:28492532|RGD:8554872 IAGP RGD:126730147 H ROR family WNT receptor 2 gene taxon:9606 20230214 ClinVar RGD 1313207 ROR2 HP:0004322 PMID:28492532|RGD:8554872 IAGP RGD:126730161 H ROR family WNT receptor 2 gene taxon:9606 20230214 ClinVar RGD 1313207 ROR2 HP:0004322 RGD:8554872 IAGP RGD:126729834 H ROR family WNT receptor 2 gene taxon:9606 20210406 ClinVar RGD 1313207 ROR2 HP:0004322 RGD:8554872 IAGP RGD:126730153 H ROR family WNT receptor 2 gene taxon:9606 20210406 ClinVar RGD 1313207 ROR2 HP:0004397 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0004590 MIM:113000|MIM:268310|PMID:19461659|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0004887 RGD:8554872 IAGP RGD:127274410 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0005011 MIM:268310|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0005048 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0005280 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0005326 RGD:8554872 IAGP RGD:15040406 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0005648 MIM:268310|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0005659 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0005773 RGD:8554872 IAGP RGD:405718687 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0005819 MIM:113000|PMID:9973295|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0005831 MIM:113000|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0005831 RGD:8554872 IAGP RGD:126736718 H ROR family WNT receptor 2 gene taxon:9606 20210608 ClinVar RGD 1313207 ROR2 HP:0005914 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0006101 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0006216 MIM:268310|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0006394 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0006770 RGD:8554872 IAGP RGD:713815677 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0006770 RGD:8554872 IAGP RGD:714260434 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0007598 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0008386 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0008467 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0008551 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0008736 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0008780 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0008873 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0008873 PMID:25741868|RGD:8554872 IAGP RGD:329350831 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0009177 MIM:268310|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0009237 RGD:8554872 IAGP RGD:714059365 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0009466 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0009473 MIM:113000|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0009487 RGD:8554872 IAGP RGD:127274410 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0009767 RGD:11535953|PMID:24954533 IAGP H ROR family WNT receptor 2 gene taxon:9606 20160923 RGD RGD 1313207 ROR2 HP:0009804 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0009815 RGD:8554872 IAGP RGD:127274410 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0009826 RGD:8554872 IAGP RGD:127274410 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0009835 MIM:113000|PMID:10986040|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0009835 RGD:11537345|PMID:23238279 IAGP H ROR family WNT receptor 2 gene taxon:9606 20160930 RGD RGD 1313207 ROR2 HP:0009882 MIM:268310|ORPHA:1507|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0009883 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0010055 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0010059 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0010185 MIM:113000|PMID:9973295|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0010292 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0010296 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0010297 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0010554 MIM:113000|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0010624 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0010804 MIM:268310|ORPHA:1507|PMID:15952209|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0010807 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0011069 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0011171 RGD:8554872 IAGP RGD:714059365 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0011220 MIM:268310|PMID:15952209|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0011297 RGD:11535951|PMID:19461659 IAGP H ROR family WNT receptor 2 gene taxon:9606 20160923 RGD RGD 1313207 ROR2 HP:0011304 MIM:113000|MIM:268310|ORPHA:1507|PMID:15952209|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0011430 RGD:8554872 IAGP RGD:405718687 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0011800 MIM:268310|ORPHA:1507|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0011821 RGD:8554872 IAGP RGD:714059365 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0011927 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0012126 PMID:25741868|PMID:28492532|PMID:31680123|RGD:8554872 IAGP RGD:13836512 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0012368 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20260209 HPO RGD 1313207 ROR2 HP:0012385 MIM:113000|MIM:268310|PMID:10986040|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0012555 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0012725 RGD:11535951|PMID:19461659 IAGP H ROR family WNT receptor 2 gene taxon:9606 20160923 RGD RGD 1313207 ROR2 HP:0012815 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0030084 MIM:268310|PMID:35344616|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20250912 HPO RGD 1313207 ROR2 HP:0031987 RGD:8554872 IAGP RGD:714059365 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0100490 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0100798 ORPHA:1507|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0200055 MIM:268310|RGD:8699517 IAGP H ROR family WNT receptor 2 gene taxon:9606 20230821 HPO RGD 1313207 ROR2 HP:0200055 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0200104 PMID:25741868|RGD:8554872 IAGP RGD:713960552 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313207 ROR2 HP:0410030 PMID:25741868|RGD:8554872 IAGP RGD:596941245 H ROR family WNT receptor 2 gene taxon:9606 20250107 ClinVar RGD 1313207 ROR2 HP:0410030 RGD:8554872 IAGP RGD:405718687 H ROR family WNT receptor 2 gene taxon:9606 20260519 ClinVar RGD 1313212 ADAM33 HP:0007716 RGD:8554872 IAGP RGD:713796856 H ADAM metallopeptidase domain 33 gene taxon:9606 20260519 ClinVar RGD 1313212 ADAM33 HP:0012126 RGD:8554872 IAGP RGD:713776997 H ADAM metallopeptidase domain 33 gene taxon:9606 20260519 ClinVar RGD 1313212 ADAM33 HP:0033141 RGD:8554872 IAGP RGD:329954591 H ADAM metallopeptidase domain 33 gene taxon:9606 20260616 ClinVar RGD 1313212 ADAM33 HP:0100242 RGD:8554872 IAGP RGD:713777008 H ADAM metallopeptidase domain 33 gene taxon:9606 20260519 ClinVar RGD 1313212 ADAM33 HP:0100242 RGD:8554872 IAGP RGD:713963861 H ADAM metallopeptidase domain 33 gene taxon:9606 20260519 ClinVar RGD 1313212 ADAM33 HP:0100522 RGD:8554872 IAGP RGD:713963830 H ADAM metallopeptidase domain 33 gene taxon:9606 20260519 ClinVar RGD 1313212 ADAM33 HP:6001277 RGD:634726643|PMID:19996348 IAGP H ADAM metallopeptidase domain 33 gene taxon:9606 20260303 RGD RGD 1313214 CHERP HP:0006770 RGD:8554872 IAGP RGD:713890522 H calcium homeostasis endoplasmic reticulum protein gene taxon:9606 20260519 ClinVar RGD 1313214 CHERP HP:0006770 RGD:8554872 IAGP RGD:713890593 H calcium homeostasis endoplasmic reticulum protein gene taxon:9606 20260519 ClinVar RGD 1313214 CHERP HP:0006770 RGD:8554872 IAGP RGD:713890603 H calcium homeostasis endoplasmic reticulum protein gene taxon:9606 20260519 ClinVar RGD 1313214 CHERP HP:0006770 RGD:8554872 IAGP RGD:713890640 H calcium homeostasis endoplasmic reticulum protein gene taxon:9606 20260519 ClinVar RGD 1313214 CHERP HP:0100522 RGD:8554872 IAGP RGD:713794300 H calcium homeostasis endoplasmic reticulum protein gene taxon:9606 20260519 ClinVar RGD 1313216 DAZAP1 HP:0001402 RGD:8554872 IAGP RGD:713362448 H DAZ associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313216 DAZAP1 HP:0001402 RGD:8554872 IAGP RGD:713362468 H DAZ associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313216 DAZAP1 HP:0002861 RGD:8554872 IAGP RGD:713884259 H DAZ associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313216 DAZAP1 HP:0006770 RGD:8554872 IAGP RGD:713884226 H DAZ associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313216 DAZAP1 HP:0012126 RGD:8554872 IAGP RGD:714270858 H DAZ associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313216 DAZAP1 HP:0030359 RGD:8554872 IAGP RGD:713827896 H DAZ associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313216 DAZAP1 HP:0030359 RGD:8554872 IAGP RGD:713884290 H DAZ associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313216 DAZAP1 HP:0100242 RGD:8554872 IAGP RGD:714270866 H DAZ associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313216 DAZAP1 HP:0100522 RGD:8554872 IAGP RGD:713884894 H DAZ associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313216 DAZAP1 HP:0100522 RGD:8554872 IAGP RGD:714270811 H DAZ associated protein 1 gene taxon:9606 20260707 ClinVar RGD 1313216 DAZAP1 HP:0100522 RGD:8554872 IAGP RGD:714270866 H DAZ associated protein 1 gene taxon:9606 20260707 ClinVar RGD 1313216 DAZAP1 HP:0100526 RGD:8554872 IAGP RGD:713884867 H DAZ associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313218 SLC71A1 HP:0002861 RGD:8554872 IAGP RGD:713805637 H solute carrier family 71 member 1 gene taxon:9606 20260519 ClinVar RGD 1313218 SLC71A1 HP:0003003 RGD:8554872 IAGP RGD:714111998 H solute carrier family 71 member 1 gene taxon:9606 20260519 ClinVar RGD 1313218 SLC71A1 HP:0004808 RGD:8554872 IAGP RGD:713418872 H solute carrier family 71 member 1 gene taxon:9606 20260519 ClinVar RGD 1313218 SLC71A1 HP:0011797 RGD:8554872 IAGP RGD:713365037 H solute carrier family 71 member 1 gene taxon:9606 20260519 ClinVar RGD 1313218 SLC71A1 HP:0100242 RGD:8554872 IAGP RGD:713805669 H solute carrier family 71 member 1 gene taxon:9606 20260519 ClinVar RGD 1313218 SLC71A1 HP:0100526 RGD:8554872 IAGP RGD:713365016 H solute carrier family 71 member 1 gene taxon:9606 20260519 ClinVar RGD 1313223 POSTN HP:0002861 RGD:8554872 IAGP RGD:713869670 H periostin gene taxon:9606 20260519 ClinVar RGD 1313223 POSTN HP:0002861 RGD:8554872 IAGP RGD:713869691 H periostin gene taxon:9606 20260519 ClinVar RGD 1313223 POSTN HP:0002861 RGD:8554872 IAGP RGD:713869768 H periostin gene taxon:9606 20260519 ClinVar RGD 1313223 POSTN HP:0006770 RGD:8554872 IAGP RGD:713869599 H periostin gene taxon:9606 20260519 ClinVar RGD 1313223 POSTN HP:0006770 RGD:8554872 IAGP RGD:713869835 H periostin gene taxon:9606 20260519 ClinVar RGD 1313223 POSTN HP:0012126 RGD:8554872 IAGP RGD:713803148 H periostin gene taxon:9606 20260519 ClinVar RGD 1313223 POSTN HP:0012126 RGD:8554872 IAGP RGD:713803171 H periostin gene taxon:9606 20260519 ClinVar RGD 1313223 POSTN HP:0100522 RGD:8554872 IAGP RGD:713869656 H periostin gene taxon:9606 20260519 ClinVar RGD 1313223 POSTN HP:0100522 RGD:8554872 IAGP RGD:713869752 H periostin gene taxon:9606 20260519 ClinVar RGD 1313223 POSTN HP:0100526 RGD:8554872 IAGP RGD:713869854 H periostin gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0000006 MIM:181030|MIM:618907|PMID:28796236|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20251023 HPO RGD 1313225 PLAG1 HP:0000023 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0000028 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0000045 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0000047 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0000048 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0000175 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20260209 HPO RGD 1313225 PLAG1 HP:0000256 PMID:25741868|RGD:8554872 IAGP RGD:152999556 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0000325 MIM:618907|ORPHA:397590|PMID:28796236|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20250912 HPO RGD 1313225 PLAG1 HP:0000325 PMID:25741868|RGD:8554872 IAGP RGD:152999556 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0000347 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0000369 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0000750 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20260209 HPO RGD 1313225 PLAG1 HP:0000821 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0000957 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0000975 PMID:25741868|RGD:8554872 IAGP RGD:152999556 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0001159 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:127286184 H PLAG1 zinc finger gene taxon:9606 20210706 ClinVar RGD 1313225 PLAG1 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:408393551 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0001263 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20260209 HPO RGD 1313225 PLAG1 HP:0001270 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:408393551 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0001442 MIM:181030|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:152999556 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:408393551 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0001511 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20260209 HPO RGD 1313225 PLAG1 HP:0001511 PMID:25741868|RGD:8554872 IAGP RGD:152999556 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0001518 MIM:618907|ORPHA:397590|PMID:28796236|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20250912 HPO RGD 1313225 PLAG1 HP:0001562 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0001626 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0001741 PMID:25741868|RGD:8554872 IAGP RGD:408393551 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0001804 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0001943 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0002007 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0002025 PMID:25741868|RGD:8554872 IAGP RGD:408393551 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0002099 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0002861 RGD:8554872 IAGP RGD:714137258 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0003561 MIM:618907|PMID:28796236|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20250912 HPO RGD 1313225 PLAG1 HP:0004209 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:150547563 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:408393551 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0004325 MIM:618907|PMID:28796236|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20250912 HPO RGD 1313225 PLAG1 HP:0004482 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20260209 HPO RGD 1313225 PLAG1 HP:0004808 RGD:8554872 IAGP RGD:713501076 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0006266 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0006770 RGD:8554872 IAGP RGD:713501104 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0007018 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0008872 MIM:618907|ORPHA:397590|PMID:28796236|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20250912 HPO RGD 1313225 PLAG1 HP:0008897 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20260209 HPO RGD 1313225 PLAG1 HP:0009237 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0009916 PMID:25741868|RGD:8554872 IAGP RGD:408393551 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0010442 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0011220 MIM:618907|ORPHA:397590|PMID:28796236|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20250912 HPO RGD 1313225 PLAG1 HP:0030153 RGD:8554872 IAGP RGD:713495091 H PLAG1 zinc finger gene taxon:9606 20260519 ClinVar RGD 1313225 PLAG1 HP:0030260 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0100257 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0100555 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0100607 ORPHA:397590|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313225 PLAG1 HP:0100684 MIM:181030|RGD:8699517 IAGP H PLAG1 zinc finger gene taxon:9606 20230821 HPO RGD 1313230 TUBAL3 HP:0006770 RGD:8554872 IAGP RGD:713789310 H tubulin alpha like 3 gene taxon:9606 20260519 ClinVar RGD 1313233 RASIP1 HP:0007716 RGD:8554872 IAGP RGD:713794624 H Ras interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313233 RASIP1 HP:0100242 RGD:8554872 IAGP RGD:713854248 H Ras interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313233 RASIP1 HP:0100526 RGD:8554872 IAGP RGD:713854297 H Ras interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313235 INCENP HP:0000090 PMID:26489029|RGD:8554872 IAGP RGD:13704942 H inner centromere protein gene taxon:9606 20210323 ClinVar RGD 1313235 INCENP HP:0002861 RGD:8554872 IAGP RGD:713733732 H inner centromere protein gene taxon:9606 20260519 ClinVar RGD 1313235 INCENP HP:0004808 RGD:8554872 IAGP RGD:150454502 H inner centromere protein gene taxon:9606 20260519 ClinVar RGD 1313235 INCENP HP:0004808 RGD:8554872 IAGP RGD:150509556 H inner centromere protein gene taxon:9606 20260519 ClinVar RGD 1313235 INCENP HP:0004808 RGD:8554872 IAGP RGD:713739752 H inner centromere protein gene taxon:9606 20260519 ClinVar RGD 1313235 INCENP HP:0004808 RGD:8554872 IAGP RGD:714096639 H inner centromere protein gene taxon:9606 20260519 ClinVar RGD 1313235 INCENP HP:0012126 RGD:8554872 IAGP RGD:150509556 H inner centromere protein gene taxon:9606 20260519 ClinVar RGD 1313235 INCENP HP:0012126 RGD:8554872 IAGP RGD:713504562 H inner centromere protein gene taxon:9606 20260707 ClinVar RGD 1313235 INCENP HP:0012126 RGD:8554872 IAGP RGD:714096650 H inner centromere protein gene taxon:9606 20260519 ClinVar RGD 1313235 INCENP HP:0030153 RGD:8554872 IAGP RGD:150509556 H inner centromere protein gene taxon:9606 20260519 ClinVar RGD 1313235 INCENP HP:0100522 RGD:8554872 IAGP RGD:150509556 H inner centromere protein gene taxon:9606 20260519 ClinVar RGD 1313235 INCENP HP:0100522 RGD:8554872 IAGP RGD:713393880 H inner centromere protein gene taxon:9606 20260519 ClinVar RGD 1313235 INCENP HP:0100522 RGD:8554872 IAGP RGD:713394068 H inner centromere protein gene taxon:9606 20260519 ClinVar RGD 1313235 INCENP HP:0100522 RGD:8554872 IAGP RGD:714021315 H inner centromere protein gene taxon:9606 20260707 ClinVar RGD 1313235 INCENP HP:0100526 RGD:8554872 IAGP RGD:150454502 H inner centromere protein gene taxon:9606 20260519 ClinVar RGD 1313235 INCENP HP:0100526 RGD:8554872 IAGP RGD:150509556 H inner centromere protein gene taxon:9606 20260519 ClinVar RGD 1313236 FKBP7 HP:0012126 RGD:8554872 IAGP RGD:713501562 H FKBP prolyl isomerase 7 gene taxon:9606 20260519 ClinVar RGD 1313236 FKBP7 HP:0100526 RGD:8554872 IAGP RGD:713742878 H FKBP prolyl isomerase 7 gene taxon:9606 20260519 ClinVar RGD 1313238 EIF4G2 HP:0001402 RGD:8554872 IAGP RGD:714091208 H eukaryotic translation initiation factor 4 gamma 2 gene taxon:9606 20260519 ClinVar RGD 1313238 EIF4G2 HP:0001402 RGD:8554872 IAGP RGD:714091217 H eukaryotic translation initiation factor 4 gamma 2 gene taxon:9606 20260519 ClinVar RGD 1313238 EIF4G2 HP:0001402 RGD:8554872 IAGP RGD:714157440 H eukaryotic translation initiation factor 4 gamma 2 gene taxon:9606 20260519 ClinVar RGD 1313238 EIF4G2 HP:0002665 RGD:8554872 IAGP RGD:713817244 H eukaryotic translation initiation factor 4 gamma 2 gene taxon:9606 20260519 ClinVar RGD 1313238 EIF4G2 HP:0003003 RGD:8554872 IAGP RGD:713817244 H eukaryotic translation initiation factor 4 gamma 2 gene taxon:9606 20260519 ClinVar RGD 1313238 EIF4G2 HP:0004808 RGD:8554872 IAGP RGD:713733753 H eukaryotic translation initiation factor 4 gamma 2 gene taxon:9606 20260707 ClinVar RGD 1313238 EIF4G2 HP:0004808 RGD:8554872 IAGP RGD:713739792 H eukaryotic translation initiation factor 4 gamma 2 gene taxon:9606 20260519 ClinVar RGD 1313238 EIF4G2 HP:0006725 RGD:8554872 IAGP RGD:713410994 H eukaryotic translation initiation factor 4 gamma 2 gene taxon:9606 20260519 ClinVar RGD 1313238 EIF4G2 HP:0012126 RGD:8554872 IAGP RGD:713733753 H eukaryotic translation initiation factor 4 gamma 2 gene taxon:9606 20260519 ClinVar RGD 1313238 EIF4G2 HP:0012126 RGD:8554872 IAGP RGD:713984963 H eukaryotic translation initiation factor 4 gamma 2 gene taxon:9606 20260519 ClinVar RGD 1313238 EIF4G2 HP:0030359 RGD:8554872 IAGP RGD:713411073 H eukaryotic translation initiation factor 4 gamma 2 gene taxon:9606 20260519 ClinVar RGD 1313238 EIF4G2 HP:0100522 RGD:8554872 IAGP RGD:713410876 H eukaryotic translation initiation factor 4 gamma 2 gene taxon:9606 20260519 ClinVar RGD 1313238 EIF4G2 HP:0100522 RGD:8554872 IAGP RGD:713745179 H eukaryotic translation initiation factor 4 gamma 2 gene taxon:9606 20260519 ClinVar RGD 1313240 WFDC3 HP:0100526 RGD:8554872 IAGP RGD:713966156 H WAP four-disulfide core domain 3 gene taxon:9606 20260519 ClinVar RGD 1313242 RLF HP:0004808 RGD:8554872 IAGP RGD:714187129 H RLF zinc finger gene taxon:9606 20260519 ClinVar RGD 1313242 RLF HP:0006770 RGD:8554872 IAGP RGD:714112219 H RLF zinc finger gene taxon:9606 20260519 ClinVar RGD 1313242 RLF HP:0030359 RGD:8554872 IAGP RGD:713404134 H RLF zinc finger gene taxon:9606 20260519 ClinVar RGD 1313242 RLF HP:0100242 RGD:8554872 IAGP RGD:713404495 H RLF zinc finger gene taxon:9606 20260519 ClinVar RGD 1313245 ARID3A HP:0001402 RGD:8554872 IAGP RGD:713367774 H AT-rich interaction domain 3A gene taxon:9606 20260519 ClinVar RGD 1313245 ARID3A HP:0002861 RGD:8554872 IAGP RGD:713693499 H AT-rich interaction domain 3A gene taxon:9606 20260519 ClinVar RGD 1313245 ARID3A HP:0004808 RGD:8554872 IAGP RGD:713829884 H AT-rich interaction domain 3A gene taxon:9606 20260707 ClinVar RGD 1313245 ARID3A HP:0006770 RGD:8554872 IAGP RGD:713693442 H AT-rich interaction domain 3A gene taxon:9606 20260519 ClinVar RGD 1313245 ARID3A HP:0030153 RGD:8554872 IAGP RGD:713693283 H AT-rich interaction domain 3A gene taxon:9606 20260519 ClinVar RGD 1313245 ARID3A HP:0100522 RGD:8554872 IAGP RGD:713693081 H AT-rich interaction domain 3A gene taxon:9606 20260519 ClinVar RGD 1313245 ARID3A HP:0100522 RGD:8554872 IAGP RGD:713693095 H AT-rich interaction domain 3A gene taxon:9606 20260519 ClinVar RGD 1313245 ARID3A HP:0100522 RGD:8554872 IAGP RGD:713829884 H AT-rich interaction domain 3A gene taxon:9606 20260519 ClinVar RGD 1313245 ARID3A HP:0100526 RGD:8554872 IAGP RGD:713693408 H AT-rich interaction domain 3A gene taxon:9606 20260519 ClinVar RGD 1313249 ABCE1 HP:0003003 RGD:8554872 IAGP RGD:714116814 H ATP binding cassette subfamily E member 1 gene taxon:9606 20260519 ClinVar RGD 1313249 ABCE1 HP:0006770 RGD:8554872 IAGP RGD:714234154 H ATP binding cassette subfamily E member 1 gene taxon:9606 20260519 ClinVar RGD 1313249 ABCE1 HP:0011797 RGD:8554872 IAGP RGD:713928716 H ATP binding cassette subfamily E member 1 gene taxon:9606 20260519 ClinVar RGD 1313249 ABCE1 HP:0011797 RGD:8554872 IAGP RGD:713928726 H ATP binding cassette subfamily E member 1 gene taxon:9606 20260519 ClinVar RGD 1313249 ABCE1 HP:0012125 RGD:8554872 IAGP RGD:9686822 H ATP binding cassette subfamily E member 1 gene taxon:9606 20250708 ClinVar RGD 1313249 ABCE1 HP:0012126 RGD:8554872 IAGP RGD:713793850 H ATP binding cassette subfamily E member 1 gene taxon:9606 20260519 ClinVar RGD 1313249 ABCE1 HP:0012126 RGD:8554872 IAGP RGD:713929055 H ATP binding cassette subfamily E member 1 gene taxon:9606 20260519 ClinVar RGD 1313249 ABCE1 HP:0012126 RGD:8554872 IAGP RGD:713929069 H ATP binding cassette subfamily E member 1 gene taxon:9606 20260519 ClinVar RGD 1313249 ABCE1 HP:0012126 RGD:8554872 IAGP RGD:713929081 H ATP binding cassette subfamily E member 1 gene taxon:9606 20260519 ClinVar RGD 1313249 ABCE1 HP:0012126 RGD:8554872 IAGP RGD:713929091 H ATP binding cassette subfamily E member 1 gene taxon:9606 20260519 ClinVar RGD 1313249 ABCE1 HP:0012126 RGD:8554872 IAGP RGD:713945722 H ATP binding cassette subfamily E member 1 gene taxon:9606 20260519 ClinVar RGD 1313249 ABCE1 HP:0012126 RGD:8554872 IAGP RGD:713945730 H ATP binding cassette subfamily E member 1 gene taxon:9606 20260519 ClinVar RGD 1313249 ABCE1 HP:0100522 RGD:8554872 IAGP RGD:713932883 H ATP binding cassette subfamily E member 1 gene taxon:9606 20260707 ClinVar RGD 1313252 IRAK4 HP:0000007 MIM:607676|PMID:12637671|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20250912 HPO RGD 1313252 IRAK4 HP:0000218 PMID:17893200|PMID:21057262|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126744895 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0000218 PMID:25741868|RGD:8554872 IAGP RGD:126763159 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0000554 PMID:17893200|PMID:21057262|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126744895 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0000554 PMID:25741868|RGD:8554872 IAGP RGD:126763159 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0001187 PMID:17893200|PMID:21057262|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126744895 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0001187 PMID:25741868|RGD:8554872 IAGP RGD:126763159 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0001250 PMID:17893200|PMID:21057262|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126744895 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0001250 PMID:17893200|PMID:21057262|PMID:28492532|RGD:8554872 IAGP RGD:155794766 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:126763159 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0001252 PMID:12637671|PMID:12925671|PMID:17544092|PMID:17893200|PMID:19663824|PMID:20621347|PMID:21057262|PMID:23538514|PMID:25344726|PMID:25741868|PMID:26472314|PMID:28492532|RGD:8554872 IAGP RGD:8557709 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260707 ClinVar RGD 1313252 IRAK4 HP:0001268 PMID:17893200|PMID:21057262|PMID:28492532|RGD:8554872 IAGP RGD:155794766 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0001287 MIM:607676|PMID:16950813|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20250912 HPO RGD 1313252 IRAK4 HP:0001287 PMID:17893200|PMID:21057262|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126744895 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0001287 PMID:25741868|RGD:8554872 IAGP RGD:126763159 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0001382 PMID:17893200|PMID:21057262|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126744895 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0001382 PMID:25741868|RGD:8554872 IAGP RGD:126763159 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0001541 PMID:12637671|PMID:12925671|PMID:17544092|PMID:17893200|PMID:19663824|PMID:20621347|PMID:21057262|PMID:23538514|PMID:25344726|PMID:25741868|PMID:26472314|PMID:28492532|RGD:8554872 IAGP RGD:8557709 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260707 ClinVar RGD 1313252 IRAK4 HP:0001701 PMID:17893200|PMID:21057262|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126744895 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0001701 PMID:25741868|RGD:8554872 IAGP RGD:126763159 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0001875 ORPHA:70592|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20230821 HPO RGD 1313252 IRAK4 HP:0001945 ORPHA:70592|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20241212 HPO RGD 1313252 IRAK4 HP:0002133 PMID:17893200|PMID:21057262|PMID:28492532|RGD:8554872 IAGP RGD:155794766 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0002171 PMID:17893200|PMID:21057262|PMID:28492532|RGD:8554872 IAGP RGD:155794766 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0002180 PMID:17893200|PMID:21057262|PMID:28492532|RGD:8554872 IAGP RGD:155794766 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0002206 PMID:17893200|PMID:21057262|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126744895 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0002206 PMID:25741868|RGD:8554872 IAGP RGD:126763159 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0002383 PMID:17893200|PMID:21057262|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126744895 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0002383 PMID:25741868|RGD:8554872 IAGP RGD:126763159 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0002715 PMID:17893200|PMID:21057262|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13808654 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0002715 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38469568 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0002715 PMID:28492532|RGD:8554872 IAGP RGD:13805468 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0002718 ORPHA:70592|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20230821 HPO RGD 1313252 IRAK4 HP:0002721 MIM:607676|ORPHA:70592|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20250416 HPO RGD 1313252 IRAK4 HP:0003095 MIM:607676|PMID:16950813|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20250912 HPO RGD 1313252 IRAK4 HP:0003212 MIM:607676|PMID:12637671|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20250912 HPO RGD 1313252 IRAK4 HP:0003212 RGD:632517870|PMID:22723975 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260130 RGD RGD 1313252 IRAK4 HP:0003593 MIM:607676|PMID:12637671|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20250912 HPO RGD 1313252 IRAK4 HP:0004808 RGD:8554872 IAGP RGD:714039520 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0004810 PMID:25741868|RGD:8554872 IAGP RGD:401830565 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20231010 ClinVar RGD 1313252 IRAK4 HP:0004810 PMID:25741868|RGD:8554872 IAGP RGD:401830621 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20231010 ClinVar RGD 1313252 IRAK4 HP:0005366 ORPHA:70592|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20230821 HPO RGD 1313252 IRAK4 HP:0005406 ORPHA:70592|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20241212 HPO RGD 1313252 IRAK4 HP:0006725 RGD:8554872 IAGP RGD:713852492 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0006770 RGD:8554872 IAGP RGD:713819545 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0007499 MIM:607676|ORPHA:70592|PMID:12637671|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20250912 HPO RGD 1313252 IRAK4 HP:0009830 PMID:17893200|PMID:21057262|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126744895 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0009830 PMID:25741868|RGD:8554872 IAGP RGD:126763159 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0010651 PMID:17893200|PMID:21057262|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126744895 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0010651 PMID:25741868|RGD:8554872 IAGP RGD:126763159 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0010975 MIM:607676|PMID:16950813|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20250912 HPO RGD 1313252 IRAK4 HP:0011463 MIM:607676|PMID:16950813|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20250912 HPO RGD 1313252 IRAK4 HP:0011839 MIM:607676|PMID:16950813|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20251023 HPO RGD 1313252 IRAK4 HP:0012051 PMID:17893200|PMID:21057262|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126744895 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0012051 PMID:25741868|RGD:8554872 IAGP RGD:126763159 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0012126 PMID:28492532|RGD:8554872 IAGP RGD:152033661 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0012444 PMID:17893200|PMID:21057262|PMID:28492532|RGD:8554872 IAGP RGD:155794766 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0012819 PMID:17893200|PMID:21057262|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126744895 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0012819 PMID:25741868|RGD:8554872 IAGP RGD:126763159 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0020096 MIM:607676|PMID:12637671|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20250912 HPO RGD 1313252 IRAK4 HP:0040089 MIM:607676|PMID:16950813|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20250912 HPO RGD 1313252 IRAK4 HP:0100242 RGD:8554872 IAGP RGD:713852510 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0100523 MIM:607676|PMID:12637671|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20250912 HPO RGD 1313252 IRAK4 HP:0100759 PMID:17893200|PMID:21057262|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126744895 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0100759 PMID:25741868|RGD:8554872 IAGP RGD:126763159 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313252 IRAK4 HP:0410255 MIM:607676|PMID:12637671|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20250912 HPO RGD 1313252 IRAK4 HP:0410300 MIM:607676|PMID:16950813|RGD:8699517 IAGP H interleukin 1 receptor associated kinase 4 gene taxon:9606 20250912 HPO RGD 1313252 IRAK4 HP:0500049 PMID:12637671|PMID:12925671|PMID:17544092|PMID:17893200|PMID:19663824|PMID:20621347|PMID:21057262|PMID:23538514|PMID:25344726|PMID:25741868|PMID:26472314|PMID:28492532|RGD:8554872 IAGP RGD:8557709 H interleukin 1 receptor associated kinase 4 gene taxon:9606 20260707 ClinVar RGD 1313254 ETNK2 HP:0006725 RGD:8554872 IAGP RGD:713473933 H ethanolamine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313254 ETNK2 HP:0006770 RGD:8554872 IAGP RGD:713474247 H ethanolamine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313254 ETNK2 HP:0100522 RGD:8554872 IAGP RGD:713474032 H ethanolamine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313256 UBE2Q1 HP:0001402 RGD:8554872 IAGP RGD:713751512 H ubiquitin conjugating enzyme E2 Q1 gene taxon:9606 20260519 ClinVar RGD 1313256 UBE2Q1 HP:0011797 RGD:8554872 IAGP RGD:713956499 H ubiquitin conjugating enzyme E2 Q1 gene taxon:9606 20260519 ClinVar RGD 1313258 EPB42 HP:0000007 MIM:612690|PMID:7803799|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20250912 HPO RGD 1313258 EPB42 HP:0000952 MIM:612690|ORPHA:822|PMID:7803799|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20250912 HPO RGD 1313258 EPB42 HP:0000980 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0001081 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0001251 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0001324 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0001510 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0001723 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0001744 MIM:612690|ORPHA:822|PMID:7803799|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20250912 HPO RGD 1313258 EPB42 HP:0001878 MIM:612690|PMID:7803799|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20250912 HPO RGD 1313258 EPB42 HP:0001903 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0001923 MIM:612690|ORPHA:822|PMID:7803799|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20250912 HPO RGD 1313258 EPB42 HP:0001945 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0001978 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0001997 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0002027 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0002240 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0002904 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0003270 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0003326 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0004444 MIM:612690|ORPHA:822|PMID:7803799|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20250912 HPO RGD 1313258 EPB42 HP:0005502 MIM:612690|ORPHA:822|PMID:7803799|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20250912 HPO RGD 1313258 EPB42 HP:0005525 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0011873 MIM:612690|PMID:7803799|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20250912 HPO RGD 1313258 EPB42 HP:0011893 MIM:612690|PMID:7803799|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20250912 HPO RGD 1313258 EPB42 HP:0011900 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0025143 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0025548 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0040186 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0100526 RGD:8554872 IAGP RGD:713742170 H erythrocyte membrane protein band 4.2 gene taxon:9606 20260519 ClinVar RGD 1313258 EPB42 HP:0100724 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313258 EPB42 HP:0200042 ORPHA:822|RGD:8699517 IAGP H erythrocyte membrane protein band 4.2 gene taxon:9606 20230821 HPO RGD 1313264 NETO2 HP:0012125 RGD:8554872 IAGP RGD:9687029 H neuropilin and tolloid like 2 gene taxon:9606 20250708 ClinVar RGD 1313264 NETO2 HP:0100242 RGD:8554872 IAGP RGD:713621512 H neuropilin and tolloid like 2 gene taxon:9606 20260519 ClinVar RGD 1313267 NRSN2 HP:0004808 RGD:8554872 IAGP RGD:713836289 H neurensin 2 gene taxon:9606 20260519 ClinVar RGD 1313267 NRSN2 HP:0004808 RGD:8554872 IAGP RGD:713841167 H neurensin 2 gene taxon:9606 20260519 ClinVar RGD 1313268 CNOT7 HP:0003003 RGD:8554872 IAGP RGD:714039653 H CCR4-NOT transcription complex subunit 7 gene taxon:9606 20260519 ClinVar RGD 1313268 CNOT7 HP:0011797 RGD:8554872 IAGP RGD:713492215 H CCR4-NOT transcription complex subunit 7 gene taxon:9606 20260519 ClinVar RGD 1313268 CNOT7 HP:0030153 RGD:8554872 IAGP RGD:713671915 H CCR4-NOT transcription complex subunit 7 gene taxon:9606 20260519 ClinVar RGD 1313268 CNOT7 HP:0100522 RGD:8554872 IAGP RGD:713492243 H CCR4-NOT transcription complex subunit 7 gene taxon:9606 20260519 ClinVar RGD 1313271 RNF115 HP:0001402 RGD:8554872 IAGP RGD:713746888 H ring finger protein 115 gene taxon:9606 20260519 ClinVar RGD 1313271 RNF115 HP:0001402 RGD:8554872 IAGP RGD:713746921 H ring finger protein 115 gene taxon:9606 20260519 ClinVar RGD 1313271 RNF115 HP:0001402 RGD:8554872 IAGP RGD:713746944 H ring finger protein 115 gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000007 MIM:253260|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0000014 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000028 RGD:8554872 IAGP RGD:12739010 H biotinidase gene taxon:9606 20210323 ClinVar RGD 1313273 BTD HP:0000135 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000286 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000301 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000365 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0000407 MIM:253260|ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250416 HPO RGD 1313273 BTD HP:0000464 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000478 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0000496 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000496 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000508 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000509 MIM:253260|ORPHA:79241|PMID:4073853|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250912 HPO RGD 1313273 BTD HP:0000540 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000540 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000545 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000572 MIM:253260|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0000575 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0000639 PMID:21752405|PMID:25174816|PMID:25741868|PMID:28492532|PMID:31035122|PMID:9158148|RGD:8554872 IAGP RGD:8595533 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000648 MIM:253260|ORPHA:79241|PMID:4073853|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250912 HPO RGD 1313273 BTD HP:0000648 PMID:12359137|PMID:15060693|PMID:17185019|PMID:20549359|PMID:25144890|PMID:25174816|PMID:25741868|PMID:26467025|PMID:27329734|PMID:28492532|PMID:28498829|RGD:8554872 IAGP RGD:8601635 H biotinidase gene taxon:9606 20260707 ClinVar RGD 1313273 BTD HP:0000648 PMID:25741868|RGD:8554872 IAGP RGD:598242972 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000707 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0000707 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000716 PMID:25174816|PMID:25741868|PMID:25967232|PMID:26810761|PMID:28492532|PMID:28498829|RGD:8554872 IAGP RGD:8601700 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000718 PMID:10400129|PMID:1668630|PMID:22698809|PMID:25741868|PMID:26334177|PMID:26467025|PMID:26810761|PMID:28492532|PMID:38299772|PMID:38459613|PMID:39688110|RGD:8554872 IAGP RGD:8601626 H biotinidase gene taxon:9606 20260707 ClinVar RGD 1313273 BTD HP:0000729 PMID:10400129|PMID:1668630|PMID:22698809|PMID:25741868|PMID:26334177|PMID:26467025|PMID:26810761|PMID:28492532|PMID:38299772|PMID:38459613|PMID:39688110|RGD:8554872 IAGP RGD:8601626 H biotinidase gene taxon:9606 20260707 ClinVar RGD 1313273 BTD HP:0000739 PMID:25174816|PMID:25741868|PMID:25967232|PMID:26810761|PMID:28492532|PMID:28498829|RGD:8554872 IAGP RGD:8601700 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000750 PMID:10400129|PMID:1668630|PMID:22698809|PMID:25741868|PMID:26334177|PMID:26467025|PMID:26810761|PMID:28492532|PMID:38299772|PMID:38459613|PMID:39688110|RGD:8554872 IAGP RGD:8601626 H biotinidase gene taxon:9606 20260707 ClinVar RGD 1313273 BTD HP:0000750 PMID:10801053|PMID:11313766|PMID:16435182|PMID:20224900|PMID:22698809|PMID:23644139|PMID:25741868|PMID:25754625|PMID:25972378|PMID:26361991|PMID:26467025|PMID:27329734|PMID:27657684|PMID:28492532|PMID:29353266|PMID:29995633|PMID:33123633|PMID:33189081|PMID:33312878|PMID:35195902|PMID:37725148|PMID:9396567|RGD:8554872 IAGP RGD:8601596 H biotinidase gene taxon:9606 20260707 ClinVar RGD 1313273 BTD HP:0000750 RGD:8554872 IAGP RGD:598125551 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0000964 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20240208 HPO RGD 1313273 BTD HP:0000988 MIM:253260|ORPHA:79241|PMID:4073853|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250912 HPO RGD 1313273 BTD HP:0001028 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001051 MIM:253260|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0001138 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0001138 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001249 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0001249 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001249 PMID:14707518|PMID:25741868|PMID:28492532|PMID:9396567|RGD:8554872 IAGP RGD:8601653 H biotinidase gene taxon:9606 20220420 ClinVar RGD 1313273 BTD HP:0001249 PMID:22698809|PMID:25174816|PMID:25741868|PMID:26810761|PMID:27378695|PMID:28492532|PMID:28498829|PMID:31337602|RGD:8554872 IAGP RGD:12848895 H biotinidase gene taxon:9606 20230214 ClinVar RGD 1313273 BTD HP:0001249 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20210323 ClinVar RGD 1313273 BTD HP:0001250 MIM:253260|ORPHA:79241|PMID:4073853|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250912 HPO RGD 1313273 BTD HP:0001250 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001250 PMID:17382128|PMID:19728141|PMID:25741868|PMID:28492532|PMID:29359854|RGD:8554872 IAGP RGD:13782628 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001250 PMID:21752405|PMID:25174816|PMID:25741868|PMID:28492532|PMID:31035122|PMID:9158148|RGD:8554872 IAGP RGD:8595533 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001250 RGD:8554872 IAGP RGD:598125551 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001251 MIM:253260|ORPHA:79241|PMID:4073853|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250912 HPO RGD 1313273 BTD HP:0001251 PMID:15776412|PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601648 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001252 MIM:253260|ORPHA:79241|PMID:4073853|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250912 HPO RGD 1313273 BTD HP:0001252 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001254 MIM:253260|ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250416 HPO RGD 1313273 BTD HP:0001257 PMID:21752405|PMID:25174816|PMID:25741868|PMID:28492532|PMID:31035122|PMID:9158148|RGD:8554872 IAGP RGD:8595533 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001263 MIM:253260|ORPHA:79241|PMID:4073853|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250912 HPO RGD 1313273 BTD HP:0001263 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001263 PMID:21752405|PMID:25174816|PMID:25741868|PMID:28492532|PMID:31035122|PMID:9158148|RGD:8554872 IAGP RGD:8595533 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:12854360 H biotinidase gene taxon:9606 20210323 ClinVar RGD 1313273 BTD HP:0001276 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001290 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001290 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001298 PMID:12359137|PMID:15060693|PMID:17185019|PMID:20549359|PMID:25144890|PMID:25174816|PMID:25741868|PMID:26467025|PMID:27329734|PMID:28492532|PMID:28498829|RGD:8554872 IAGP RGD:8601635 H biotinidase gene taxon:9606 20260707 ClinVar RGD 1313273 BTD HP:0001336 PMID:21752405|PMID:25174816|PMID:25741868|PMID:28492532|PMID:31035122|PMID:9158148|RGD:8554872 IAGP RGD:8595533 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001337 RGD:8554872 IAGP RGD:598125551 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001344 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001349 PMID:25741868|RGD:8554872 IAGP RGD:598242972 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001508 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001511 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001513 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001558 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001581 MIM:253260|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0001596 MIM:253260|ORPHA:79241|PMID:4073853|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250912 HPO RGD 1313273 BTD HP:0001596 PMID:15776412|PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601648 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001647 PMID:25174816|PMID:25741868|PMID:25967232|PMID:26810761|PMID:28492532|PMID:28498829|RGD:8554872 IAGP RGD:8601700 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001680 PMID:25174816|PMID:25741868|PMID:25967232|PMID:26810761|PMID:28492532|PMID:28498829|RGD:8554872 IAGP RGD:8601700 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001744 MIM:253260|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0001787 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001939 PMID:10400129|PMID:1668630|PMID:22698809|PMID:25741868|PMID:26334177|PMID:26467025|PMID:26810761|PMID:28492532|PMID:38299772|PMID:38459613|PMID:39688110|RGD:8554872 IAGP RGD:8601626 H biotinidase gene taxon:9606 20260707 ClinVar RGD 1313273 BTD HP:0001939 PMID:25741868|PMID:26589311|PMID:28492532|RGD:8554872 IAGP RGD:150430256 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001939 PMID:25741868|RGD:8554872 IAGP RGD:13787645 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0001987 MIM:253260|ORPHA:79241|PMID:4073853|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250912 HPO RGD 1313273 BTD HP:0001992 MIM:253260|ORPHA:79241|PMID:4073853|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250912 HPO RGD 1313273 BTD HP:0001999 RGD:8554872 IAGP RGD:598125551 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0002007 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0002013 MIM:253260|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0002014 MIM:253260|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0002031 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0002069 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0002098 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0002104 MIM:253260|ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250416 HPO RGD 1313273 BTD HP:0002123 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0002196 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0002240 MIM:253260|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0002313 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0002353 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0002385 PMID:25741868|RGD:8554872 IAGP RGD:598242972 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0002490 PMID:15776412|PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601648 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0002506 MIM:253260|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0002715 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0002789 MIM:253260|PMID:4073853|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250912 HPO RGD 1313273 BTD HP:0002841 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0002883 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0003124 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0003535 PMID:12359137|PMID:15060693|PMID:17185019|PMID:20549359|PMID:25144890|PMID:25174816|PMID:25741868|PMID:26467025|PMID:27329734|PMID:28492532|PMID:28498829|RGD:8554872 IAGP RGD:8601635 H biotinidase gene taxon:9606 20260707 ClinVar RGD 1313273 BTD HP:0003593 MIM:253260|PMID:4073853|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250912 HPO RGD 1313273 BTD HP:0003690 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0004322 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0004429 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0005401 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0005978 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0005979 MIM:253260|ORPHA:79241|PMID:4073853|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250912 HPO RGD 1313273 BTD HP:0006511 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0007018 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0007018 PMID:25174816|PMID:25741868|PMID:25967232|PMID:26810761|PMID:28492532|PMID:28498829|RGD:8554872 IAGP RGD:8601700 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0007240 PMID:25741868|RGD:8554872 IAGP RGD:598242972 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0007302 PMID:25174816|PMID:25741868|PMID:25967232|PMID:26810761|PMID:28492532|PMID:28498829|RGD:8554872 IAGP RGD:8601700 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0007359 PMID:17382128|PMID:19728141|PMID:25741868|PMID:28492532|PMID:29359854|RGD:8554872 IAGP RGD:13782628 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0007738 PMID:21752405|PMID:25174816|PMID:25741868|PMID:28492532|PMID:31035122|PMID:9158148|RGD:8554872 IAGP RGD:8595533 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0008872 MIM:253260|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0009127 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260707 ClinVar RGD 1313273 BTD HP:0009127 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260707 ClinVar RGD 1313273 BTD HP:0009131 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0010301 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0010524 PMID:25741868|RGD:8554872 IAGP RGD:598242972 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0010780 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0011153 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0011220 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0011297 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0011342 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0011344 PMID:10801053|PMID:11313766|PMID:16435182|PMID:20224900|PMID:22698809|PMID:23644139|PMID:25741868|PMID:25754625|PMID:25972378|PMID:26361991|PMID:26467025|PMID:27329734|PMID:27657684|PMID:28492532|PMID:29353266|PMID:29995633|PMID:33123633|PMID:33189081|PMID:33312878|PMID:35195902|PMID:37725148|PMID:9396567|RGD:8554872 IAGP RGD:8601596 H biotinidase gene taxon:9606 20260707 ClinVar RGD 1313273 BTD HP:0011438 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0011443 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0011443 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0011463 MIM:253260|PMID:4073853|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250912 HPO RGD 1313273 BTD HP:0011804 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0011968 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0012469 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0030148 PMID:10400129|PMID:1668630|PMID:22698809|PMID:25741868|PMID:26334177|PMID:26467025|PMID:26810761|PMID:28492532|PMID:38299772|PMID:38459613|PMID:39688110|RGD:8554872 IAGP RGD:8601626 H biotinidase gene taxon:9606 20260707 ClinVar RGD 1313273 BTD HP:0030890 PMID:21752405|PMID:25174816|PMID:25741868|PMID:28492532|PMID:31035122|PMID:9158148|RGD:8554872 IAGP RGD:8595533 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0031785 PMID:25741868|RGD:8554872 IAGP RGD:598242972 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0032245 PMID:25741868|RGD:8554872 IAGP RGD:405855231 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0100275 MIM:253260|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0100543 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0100543 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0100661 PMID:25741868|RGD:8554872 IAGP RGD:598242972 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0200067 PMID:24797656|PMID:25144890|PMID:25741868|PMID:27657684|PMID:28492532|RGD:8554872 IAGP RGD:9586973 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0200068 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313273 BTD HP:0200136 PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601713 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0410144 PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207|RGD:8554872 IAGP RGD:8595534 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0410145 MIM:253260|ORPHA:79241|PMID:3930842|RGD:8699517 IAGP H biotinidase gene taxon:9606 20250912 HPO RGD 1313273 BTD HP:0410145 PMID:10801053|PMID:11313766|PMID:16435182|PMID:20224900|PMID:22698809|PMID:23644139|PMID:25741868|PMID:25754625|PMID:25972378|PMID:26361991|PMID:26467025|PMID:27329734|PMID:27657684|PMID:28492532|PMID:29353266|PMID:29995633|PMID:33123633|PMID:33189081|PMID:33312878|PMID:35195902|PMID:37725148|PMID:9396567|RGD:8554872 IAGP RGD:8601596 H biotinidase gene taxon:9606 20260707 ClinVar RGD 1313273 BTD HP:0410145 PMID:15776412|PMID:25741868|PMID:26810761|PMID:28492532|RGD:8554872 IAGP RGD:8601648 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0410145 PMID:21752405|PMID:25174816|PMID:25741868|PMID:28492532|PMID:31035122|PMID:9158148|RGD:8554872 IAGP RGD:8595533 H biotinidase gene taxon:9606 20260519 ClinVar RGD 1313273 BTD HP:0410263 ORPHA:79241|RGD:8699517 IAGP H biotinidase gene taxon:9606 20230821 HPO RGD 1313275 CNTRL HP:0001402 RGD:8554872 IAGP RGD:714087339 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0001402 RGD:8554872 IAGP RGD:714087350 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0002665 RGD:8554872 IAGP RGD:713494638 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0002665 RGD:8554872 IAGP RGD:713495025 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0004808 RGD:8554872 IAGP RGD:713510884 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0004808 RGD:8554872 IAGP RGD:714254284 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0004808 RGD:8554872 IAGP RGD:714256295 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0004808 RGD:8554872 IAGP RGD:714256312 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0006770 RGD:8554872 IAGP RGD:713494543 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0006770 RGD:8554872 IAGP RGD:713494764 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0006770 RGD:8554872 IAGP RGD:713494792 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0006770 RGD:8554872 IAGP RGD:713494818 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0007716 RGD:8554872 IAGP RGD:714008994 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0007716 RGD:8554872 IAGP RGD:714011392 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0012126 RGD:8554872 IAGP RGD:713716855 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0012126 RGD:8554872 IAGP RGD:713716887 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0012126 RGD:8554872 IAGP RGD:713716904 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0012126 RGD:8554872 IAGP RGD:714008994 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0030153 RGD:8554872 IAGP RGD:713494920 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0030153 RGD:8554872 IAGP RGD:714008994 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0030359 RGD:8554872 IAGP RGD:713494519 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0100242 RGD:8554872 IAGP RGD:713494660 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0100242 RGD:8554872 IAGP RGD:713510905 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0100242 RGD:8554872 IAGP RGD:713716870 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0100242 RGD:8554872 IAGP RGD:714254291 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0100522 RGD:8554872 IAGP RGD:713494499 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0100522 RGD:8554872 IAGP RGD:713510941 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0100615 RGD:8554872 IAGP RGD:713494423 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0100615 RGD:8554872 IAGP RGD:713494985 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313275 CNTRL HP:0100615 RGD:8554872 IAGP RGD:713495128 H centriolin gene taxon:9606 20260519 ClinVar RGD 1313278 RCL1 HP:0004808 RGD:8554872 IAGP RGD:714261656 H RNA terminal phosphate cyclase like 1 gene taxon:9606 20260519 ClinVar RGD 1313278 RCL1 HP:0004808 RGD:8554872 IAGP RGD:714261667 H RNA terminal phosphate cyclase like 1 gene taxon:9606 20260519 ClinVar RGD 1313278 RCL1 HP:0007716 RGD:8554872 IAGP RGD:714257931 H RNA terminal phosphate cyclase like 1 gene taxon:9606 20260519 ClinVar RGD 1313278 RCL1 HP:0012126 RGD:8554872 IAGP RGD:713726899 H RNA terminal phosphate cyclase like 1 gene taxon:9606 20260519 ClinVar RGD 1313278 RCL1 HP:0030153 RGD:8554872 IAGP RGD:713762177 H RNA terminal phosphate cyclase like 1 gene taxon:9606 20260519 ClinVar RGD 1313278 RCL1 HP:0100242 RGD:8554872 IAGP RGD:714259849 H RNA terminal phosphate cyclase like 1 gene taxon:9606 20260519 ClinVar RGD 1313278 RCL1 HP:0100242 RGD:8554872 IAGP RGD:714261667 H RNA terminal phosphate cyclase like 1 gene taxon:9606 20260519 ClinVar RGD 1313278 RCL1 HP:0100522 RGD:8554872 IAGP RGD:714261656 H RNA terminal phosphate cyclase like 1 gene taxon:9606 20260519 ClinVar RGD 1313278 RCL1 HP:0100526 RGD:8554872 IAGP RGD:714261667 H RNA terminal phosphate cyclase like 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0000006 MIM:616280|PMID:24354524|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0000007 MIM:615486|MIM:619692|MIM:620323|PMID:24103465|PMID:24482476|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0000100 ORPHA:401835|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1313280 MARS1 HP:0000218 MIM:620323|PMID:34585293|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0000230 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12846060 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0000252 MIM:620323|PMID:34585293|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0000286 MIM:619692|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0000316 MIM:620323|PMID:34585293|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0000347 MIM:620323|PMID:34585293|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0000369 MIM:620323|PMID:34585293|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0000407 MIM:620323|PMID:34585293|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0000540 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12846060 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0000689 MIM:619692|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0000704 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12846060 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0000716 PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792|RGD:8554872 IAGP RGD:8624249 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0000722 PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792|RGD:8554872 IAGP RGD:8624249 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0000739 PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792|RGD:8554872 IAGP RGD:8624249 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:13478269 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0000750 MIM:620323|PMID:34585293|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0000763 PMID:25741868|RGD:8554872 IAGP RGD:38463797 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0000821 MIM:615486|PMID:24103465|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0000824 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12846060 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0000975 PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792|RGD:8554872 IAGP RGD:8624249 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0001156 MIM:619692|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001217 MIM:615486|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001249 MIM:619692|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001251 MIM:619692|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001252 MIM:615486|PMID:24103465|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001256 ORPHA:401835|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1313280 MARS1 HP:0001257 MIM:620323|PMID:24482476|PMID:34585293|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001260 MIM:620323|PMID:24482476|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001263 MIM:619692|MIM:620323|ORPHA:401835|PMID:33909043|PMID:34585293|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001270 MIM:615486|MIM:620323|PMID:24103465|PMID:24482476|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001271 PMID:28492532|RGD:8554872 IAGP RGD:401948648 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0001276 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12846060 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0001284 MIM:616280|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1313280 MARS1 HP:0001288 MIM:616280|PMID:24354524|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001290 PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792|RGD:8554872 IAGP RGD:8624249 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0001290 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12846060 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0001315 MIM:619692|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001337 PMID:28492532|RGD:8554872 IAGP RGD:401948648 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0001347 MIM:620323|PMID:24482476|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001382 MIM:619692|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001392 PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792|RGD:8554872 IAGP RGD:8624249 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0001392 PMID:25741868|PMID:28492532|PMID:30723866|RGD:8554872 IAGP RGD:13489638 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0001392 PMID:25741868|RGD:8554872 IAGP RGD:408394587 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0001392 PMID:25741868|RGD:8554872 IAGP RGD:408394588 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0001394 MIM:615486|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001395 MIM:615486|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001396 MIM:615486|PMID:24103465|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001397 MIM:615486|PMID:24103465|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001399 MIM:615486|PMID:24103465|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001402 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12834966 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0001402 RGD:8554872 IAGP RGD:713352059 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0001508 MIM:615486|PMID:24103465|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001508 PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792|RGD:8554872 IAGP RGD:8624249 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0001510 MIM:620323|PMID:34585293|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001622 PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792|RGD:8554872 IAGP RGD:8624249 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0001771 MIM:620323|PMID:24482476|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001894 MIM:615486|PMID:24103465|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001903 MIM:615486|PMID:24103465|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0001987 MIM:615486|PMID:24103465|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0002013 MIM:615486|PMID:24103465|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0002061 ORPHA:401835|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1313280 MARS1 HP:0002093 MIM:615486|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0002094 MIM:615486|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0002206 MIM:615486|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0002240 MIM:615486|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0002312 PMID:25741868|RGD:8554872 IAGP RGD:38463797 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0002378 ORPHA:401835|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1313280 MARS1 HP:0002380 MIM:620323|PMID:24482476|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0002460 MIM:616280|PMID:24354524|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0002650 MIM:620323|PMID:24482476|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0002705 MIM:619692|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0002721 PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792|RGD:8554872 IAGP RGD:8624249 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0002861 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12834966 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0002936 MIM:616280|PMID:24354524|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0003003 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12834966 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0003128 MIM:615486|PMID:24103465|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0003202 MIM:620323|PMID:24482476|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0003324 PMID:28492532|RGD:8554872 IAGP RGD:401948648 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0003355 MIM:615486|PMID:24103465|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0003376 MIM:616280|PMID:24354524|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0003474 MIM:620323|PMID:24482476|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0003474 PMID:28492532|RGD:8554872 IAGP RGD:401948648 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0003477 MIM:616280|PMID:24354524|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0003584 MIM:616280|PMID:24354524|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0003593 MIM:615486|MIM:619692|MIM:620323|PMID:24482476|PMID:25913036|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0003596 MIM:616280|PMID:24354524|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0003623 MIM:615486|PMID:24103465|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0003676 MIM:615486|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1313280 MARS1 HP:0003677 MIM:616280|PMID:24354524|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0003693 MIM:616280|PMID:24354524|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0004322 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12846060 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0004808 RGD:8554872 IAGP RGD:713655636 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0006517 MIM:615486|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0006517 RGD:8554872 IAGP RGD:10042032 H methionyl-tRNA synthetase 1 gene taxon:9606 20260602 ClinVar RGD 1313280 MARS1 HP:0006530 MIM:615486|ORPHA:401835|PMID:24103465|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0007020 ORPHA:401835|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1313280 MARS1 HP:0007181 PMID:25741868|RGD:8554872 IAGP RGD:38463797 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0008064 MIM:619692|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0008070 MIM:619692|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0008404 MIM:619692|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0009027 MIM:616280|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1313280 MARS1 HP:0009027 PMID:25741868|RGD:8554872 IAGP RGD:38463797 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0009130 MIM:616280|PMID:24354524|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0009830 ORPHA:401835|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1313280 MARS1 HP:0011443 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12846060 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0011448 MIM:620323|PMID:34585293|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0011463 MIM:615486|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0011797 RGD:8554872 IAGP RGD:713653058 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0011804 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12846060 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0011805 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12846060 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0011968 MIM:620323|PMID:34585293|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0011968 PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792|RGD:8554872 IAGP RGD:8624249 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0012126 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34890693 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0012126 RGD:8554872 IAGP RGD:713795496 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0012418 MIM:615486|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0012447 ORPHA:401835|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1313280 MARS1 HP:0012735 MIM:615486|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0030153 RGD:8554872 IAGP RGD:714064280 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0030237 MIM:616280|PMID:24354524|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0030948 MIM:615486|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0031936 MIM:620323|PMID:34585293|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0031956 MIM:615486|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0031964 MIM:615486|PMID:25913036|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0032152 MIM:619692|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0045055 MIM:619692|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0045075 MIM:619692|PMID:33909043|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20250912 HPO RGD 1313280 MARS1 HP:0100022 ORPHA:401835|RGD:8699517 IAGP H methionyl-tRNA synthetase 1 gene taxon:9606 20230821 HPO RGD 1313280 MARS1 HP:0100022 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12846060 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0100242 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12834966 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0100522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12834966 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0100526 PMID:28492532|RGD:8554872 IAGP RGD:126760664 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0100526 RGD:8554872 IAGP RGD:714064239 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0100543 PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792|RGD:8554872 IAGP RGD:8624249 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313280 MARS1 HP:0410009 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12846060 H methionyl-tRNA synthetase 1 gene taxon:9606 20260519 ClinVar RGD 1313282 MAP4K4 HP:0002023 RGD:8554872 IAGP RGD:155794798 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20230110 ClinVar RGD 1313282 MAP4K4 HP:0002408 PMID:25741868|RGD:8554872 IAGP RGD:13609049 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20210323 ClinVar RGD 1313282 MAP4K4 HP:0002665 RGD:8554872 IAGP RGD:713461365 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313282 MAP4K4 HP:0002665 RGD:8554872 IAGP RGD:713465347 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313282 MAP4K4 HP:0002861 RGD:8554872 IAGP RGD:713461255 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313282 MAP4K4 HP:0002861 RGD:8554872 IAGP RGD:713468947 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313282 MAP4K4 HP:0002861 RGD:8554872 IAGP RGD:713469062 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313282 MAP4K4 HP:0012126 RGD:8554872 IAGP RGD:713618941 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313282 MAP4K4 HP:0100242 RGD:8554872 IAGP RGD:150484824 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313282 MAP4K4 HP:0100242 RGD:8554872 IAGP RGD:713461501 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313282 MAP4K4 HP:0100242 RGD:8554872 IAGP RGD:713462074 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313282 MAP4K4 HP:0100242 RGD:8554872 IAGP RGD:713463179 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313282 MAP4K4 HP:0100242 RGD:8554872 IAGP RGD:713464340 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313282 MAP4K4 HP:0100522 RGD:8554872 IAGP RGD:713469115 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313282 MAP4K4 HP:0100526 RGD:8554872 IAGP RGD:713461060 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313282 MAP4K4 HP:0100526 RGD:8554872 IAGP RGD:713465453 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313282 MAP4K4 HP:0100526 RGD:8554872 IAGP RGD:713468175 H mitogen-activated protein kinase kinase kinase kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313284 PLA2G3 HP:0012126 RGD:8554872 IAGP RGD:713601667 H phospholipase A2 group III gene taxon:9606 20260519 ClinVar RGD 1313284 PLA2G3 HP:0030186 RGD:8554872 IAGP RGD:713974713 H phospholipase A2 group III gene taxon:9606 20260519 ClinVar RGD 1313284 PLA2G3 HP:0100242 RGD:8554872 IAGP RGD:713739954 H phospholipase A2 group III gene taxon:9606 20260519 ClinVar RGD 1313286 SPRY4 HP:0000002 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000006 MIM:615266|PMID:23643382|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250912 HPO RGD 1313286 SPRY4 HP:0000007 MIM:146110|PMID:9371856|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250912 HPO RGD 1313286 SPRY4 HP:0000008 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000013 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000026 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000027 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000028 MIM:146110|ORPHA:432|ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250416 HPO RGD 1313286 SPRY4 HP:0000044 MIM:146110|MIM:615266|ORPHA:432|ORPHA:478|PMID:23643382|PMID:9371856|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250912 HPO RGD 1313286 SPRY4 HP:0000044 PMID:25741868|RGD:8554872 IAGP RGD:151351793 H sprouty RTK signaling antagonist 4 gene taxon:9606 20260519 ClinVar RGD 1313286 SPRY4 HP:0000054 MIM:146110|ORPHA:432|ORPHA:478|PMID:9371856|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250912 HPO RGD 1313286 SPRY4 HP:0000104 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000118 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000134 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000141 PMID:24033266|PMID:28492532|PMID:32870266|RGD:8554872 IAGP RGD:8572462 H sprouty RTK signaling antagonist 4 gene taxon:9606 20260602 ClinVar RGD 1313286 SPRY4 HP:0000141 PMID:32870266|RGD:8554872 IAGP RGD:151733240 H sprouty RTK signaling antagonist 4 gene taxon:9606 20220420 ClinVar RGD 1313286 SPRY4 HP:0000144 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000164 MIM:615266|ORPHA:432|PMID:23643382|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250912 HPO RGD 1313286 SPRY4 HP:0000175 ORPHA:432|ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250416 HPO RGD 1313286 SPRY4 HP:0000316 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000365 MIM:615266|PMID:23643382|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250912 HPO RGD 1313286 SPRY4 HP:0000407 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000458 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000505 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000508 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000551 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000639 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000716 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000739 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000771 MIM:146110|ORPHA:432|ORPHA:478|PMID:9371856|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250912 HPO RGD 1313286 SPRY4 HP:0000786 MIM:146110|ORPHA:432|ORPHA:478|PMID:9371856|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250912 HPO RGD 1313286 SPRY4 HP:0000789 MIM:146110|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000802 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000823 ORPHA:432|ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250416 HPO RGD 1313286 SPRY4 HP:0000830 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000869 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0000938 MIM:615266|ORPHA:432|PMID:23643382|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250912 HPO RGD 1313286 SPRY4 HP:0000939 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0001250 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0001251 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0001252 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0001260 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0001288 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0001324 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0001335 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0001337 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0001513 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0001608 ORPHA:432|ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250416 HPO RGD 1313286 SPRY4 HP:0001761 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0001763 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0002215 MIM:146110|PMID:9371856|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250912 HPO RGD 1313286 SPRY4 HP:0002225 MIM:146110|PMID:9371856|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250912 HPO RGD 1313286 SPRY4 HP:0002231 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0002652 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0002750 ORPHA:432|ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250416 HPO RGD 1313286 SPRY4 HP:0002757 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0002761 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0003164 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0003187 ORPHA:432|ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250416 HPO RGD 1313286 SPRY4 HP:0003621 MIM:146110|PMID:9371856|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250912 HPO RGD 1313286 SPRY4 HP:0003782 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0004349 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0004408 MIM:146110|PMID:9371856|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250912 HPO RGD 1313286 SPRY4 HP:0004409 MIM:615266|ORPHA:478|PMID:23643382|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250912 HPO RGD 1313286 SPRY4 HP:0005280 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0006610 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0008064 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0008187 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0008197 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0008527 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0008724 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0008734 MIM:146110|ORPHA:432|ORPHA:478|PMID:9371856|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20250912 HPO RGD 1313286 SPRY4 HP:0008736 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0009804 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0010550 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0011797 RGD:8554872 IAGP RGD:713453217 H sprouty RTK signaling antagonist 4 gene taxon:9606 20260519 ClinVar RGD 1313286 SPRY4 HP:0011961 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0012385 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0030016 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0030019 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0030680 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0040171 ORPHA:432|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313286 SPRY4 HP:0100526 RGD:8554872 IAGP RGD:713885319 H sprouty RTK signaling antagonist 4 gene taxon:9606 20260519 ClinVar RGD 1313286 SPRY4 HP:0100639 ORPHA:478|RGD:8699517 IAGP H sprouty RTK signaling antagonist 4 gene taxon:9606 20230821 HPO RGD 1313288 PLXNA2 HP:0000717 PMID:25741868|PMID:28492532|PMID:33749153|RGD:8554872 IAGP RGD:151827626 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0000717 PMID:25741868|PMID:28492532|PMID:33749153|RGD:8554872 IAGP RGD:151870569 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0001402 RGD:8554872 IAGP RGD:714088593 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0001402 RGD:8554872 IAGP RGD:714157547 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0002032 RGD:8554872 IAGP RGD:15174116 H plexin A2 gene taxon:9606 20210323 ClinVar RGD 1313288 PLXNA2 HP:0002861 PMID:28492532|RGD:8554872 IAGP RGD:401937964 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0002861 RGD:8554872 IAGP RGD:714229599 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0004808 RGD:8554872 IAGP RGD:714259657 H plexin A2 gene taxon:9606 20260707 ClinVar RGD 1313288 PLXNA2 HP:0004808 RGD:8554872 IAGP RGD:714261402 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0006770 RGD:8554872 IAGP RGD:714259657 H plexin A2 gene taxon:9606 20260707 ClinVar RGD 1313288 PLXNA2 HP:0011797 RGD:8554872 IAGP RGD:714259455 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0012126 RGD:8554872 IAGP RGD:713724517 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0012126 RGD:8554872 IAGP RGD:713724790 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0012126 RGD:8554872 IAGP RGD:713724840 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0012126 RGD:8554872 IAGP RGD:713774745 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0030153 RGD:8554872 IAGP RGD:714229732 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0030153 RGD:8554872 IAGP RGD:714255714 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0100242 RGD:8554872 IAGP RGD:713583360 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0100242 RGD:8554872 IAGP RGD:713774780 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0100242 RGD:8554872 IAGP RGD:714229642 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0100242 RGD:8554872 IAGP RGD:714259657 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0100522 RGD:8554872 IAGP RGD:713725541 H plexin A2 gene taxon:9606 20260519 ClinVar RGD 1313288 PLXNA2 HP:0100522 RGD:8554872 IAGP RGD:714259657 H plexin A2 gene taxon:9606 20260707 ClinVar RGD 1313288 PLXNA2 HP:0100526 RGD:8554872 IAGP RGD:714259657 H plexin A2 gene taxon:9606 20260707 ClinVar RGD 1313295 ALOX12B HP:0000007 MIM:242100|PMID:19890349|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250912 HPO RGD 1313295 ALOX12B HP:0000083 ORPHA:313|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0000164 ORPHA:313|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0000232 MIM:242100|ORPHA:313|PMID:18347291|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250912 HPO RGD 1313295 ALOX12B HP:0000365 ORPHA:79394|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0000389 ORPHA:313|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0000491 ORPHA:79394|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0000656 MIM:242100|ORPHA:313|ORPHA:79394|PMID:18347291|PMID:19890349|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250912 HPO RGD 1313295 ALOX12B HP:0000656 PMID:25741868|PMID:31046801|RGD:8554872 IAGP RGD:41407466 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20260519 ClinVar RGD 1313295 ALOX12B HP:0000656 RGD:8554872 IAGP RGD:714053657 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20260519 ClinVar RGD 1313295 ALOX12B HP:0000958 ORPHA:313|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0000962 MIM:242100|ORPHA:313|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250416 HPO RGD 1313295 ALOX12B HP:0000966 MIM:242100|ORPHA:79394|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250416 HPO RGD 1313295 ALOX12B HP:0000970 MIM:242100|PMID:19890349|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250912 HPO RGD 1313295 ALOX12B HP:0000982 MIM:242100|ORPHA:79394|PMID:19890349|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250912 HPO RGD 1313295 ALOX12B HP:0000989 ORPHA:313|ORPHA:79394|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250416 HPO RGD 1313295 ALOX12B HP:0000989 PMID:25741868|PMID:31046801|RGD:8554872 IAGP RGD:41407466 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20260519 ClinVar RGD 1313295 ALOX12B HP:0000989 RGD:8554872 IAGP RGD:714053657 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20260519 ClinVar RGD 1313295 ALOX12B HP:0001019 ORPHA:313|ORPHA:79394|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250416 HPO RGD 1313295 ALOX12B HP:0001376 ORPHA:281122|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0001508 ORPHA:79394|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0001510 MIM:242100|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0001595 MIM:242100|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0001596 MIM:242100|ORPHA:79394|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250416 HPO RGD 1313295 ALOX12B HP:0001597 ORPHA:313|ORPHA:79394|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250416 HPO RGD 1313295 ALOX12B HP:0001792 MIM:242100|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0001816 MIM:242100|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0001831 MIM:242100|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0001944 ORPHA:313|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0002205 ORPHA:313|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0003241 MIM:242100|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0003470 MIM:242100|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0003577 MIM:242100|PMID:18347291|PMID:19890349|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250912 HPO RGD 1313295 ALOX12B HP:0004322 ORPHA:313|ORPHA:79394|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250416 HPO RGD 1313295 ALOX12B HP:0006889 MIM:242100|PMID:19890349|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20260209 HPO RGD 1313295 ALOX12B HP:0007431 MIM:242100|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0007431 PMID:18347291|PMID:23621129|PMID:25741868|PMID:28492532|PMID:31953843|PMID:34379964|RGD:8554872 IAGP RGD:8604282 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230214 ClinVar RGD 1313295 ALOX12B HP:0007431 PMID:25741868|PMID:26762237|PMID:33255364|PMID:33435499|PMID:34908195|PMID:38791074|RGD:8554872 IAGP RGD:41407498 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20260707 ClinVar RGD 1313295 ALOX12B HP:0007431 RGD:8554872 IAGP RGD:11621466 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20210323 ClinVar RGD 1313295 ALOX12B HP:0007431 RGD:8554872 IAGP RGD:11624135 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20210323 ClinVar RGD 1313295 ALOX12B HP:0007431 RGD:8554872 IAGP RGD:11635600 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20210323 ClinVar RGD 1313295 ALOX12B HP:0007431 RGD:8554872 IAGP RGD:11661688 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20210323 ClinVar RGD 1313295 ALOX12B HP:0007431 RGD:8554872 IAGP RGD:11662868 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20210323 ClinVar RGD 1313295 ALOX12B HP:0007479 MIM:242100|PMID:18347291|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250912 HPO RGD 1313295 ALOX12B HP:0007479 PMID:18347291|PMID:23621129|PMID:25741868|PMID:28492532|PMID:31953843|PMID:34379964|RGD:8554872 IAGP RGD:8604282 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230214 ClinVar RGD 1313295 ALOX12B HP:0007479 PMID:25741868|PMID:31046801|RGD:8554872 IAGP RGD:41407466 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20260519 ClinVar RGD 1313295 ALOX12B HP:0007479 RGD:8554872 IAGP RGD:714053657 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20260519 ClinVar RGD 1313295 ALOX12B HP:0008064 ORPHA:281122|ORPHA:313|ORPHA:79394|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250416 HPO RGD 1313295 ALOX12B HP:0008064 PMID:16116617|PMID:19131948|PMID:19890349|PMID:24033266|PMID:25741868|PMID:27025581|PMID:28492532|PMID:31168818|PMID:34008892|RGD:8554872 IAGP RGD:8604283 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20220420 ClinVar RGD 1313295 ALOX12B HP:0008064 PMID:16116617|PMID:19131948|PMID:23621129|PMID:25741868|PMID:28492532|PMID:31046801|PMID:35186387|RGD:8554872 IAGP RGD:151727939 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20260519 ClinVar RGD 1313295 ALOX12B HP:0008064 PMID:25741868|PMID:26762237|PMID:33255364|PMID:33435499|PMID:34908195|PMID:38791074|RGD:8554872 IAGP RGD:41407498 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20260707 ClinVar RGD 1313295 ALOX12B HP:0008064 PMID:25741868|PMID:28492532|PMID:33435499|RGD:8554872 IAGP RGD:41407503 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20260519 ClinVar RGD 1313295 ALOX12B HP:0008064 PMID:25741868|PMID:33435499|PMID:34273205|PMID:36964972|RGD:8554872 IAGP RGD:12738980 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250408 ClinVar RGD 1313295 ALOX12B HP:0008070 ORPHA:313|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0009381 MIM:242100|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0010783 MIM:242100|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0011039 ORPHA:313|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0012126 RGD:8554872 IAGP RGD:714268094 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20260519 ClinVar RGD 1313295 ALOX12B HP:0025092 MIM:242100|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0025114 MIM:242100|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0033252 MIM:242100|PMID:18347291|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20250912 HPO RGD 1313295 ALOX12B HP:0040189 PMID:16116617|PMID:19131948|PMID:23621129|PMID:25741868|PMID:28492532|PMID:31046801|PMID:35186387|RGD:8554872 IAGP RGD:151727939 H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20260519 ClinVar RGD 1313295 ALOX12B HP:0100543 ORPHA:313|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0100679 ORPHA:313|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0100758 ORPHA:313|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0100806 ORPHA:313|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0100840 ORPHA:313|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313295 ALOX12B HP:0200020 ORPHA:79394|RGD:8699517 IAGP H arachidonate 12-lipoxygenase, 12R type gene taxon:9606 20230821 HPO RGD 1313297 TPST2 HP:0002861 RGD:8554872 IAGP RGD:713890228 H tyrosylprotein sulfotransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313297 TPST2 HP:0006770 RGD:8554872 IAGP RGD:713890180 H tyrosylprotein sulfotransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313299 MDM2 HP:0000007 MIM:618681|PMID:28846075|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20250912 HPO RGD 1313299 MDM2 HP:0000083 MIM:618681|PMID:28846075|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20250912 HPO RGD 1313299 MDM2 HP:0000089 MIM:618681|PMID:28846075|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20250912 HPO RGD 1313299 MDM2 HP:0000135 MIM:618681|PMID:28846075|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20250912 HPO RGD 1313299 MDM2 HP:0000160 MIM:618681|PMID:28846075|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20250912 HPO RGD 1313299 MDM2 HP:0000446 MIM:618681|PMID:28846075|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20250912 HPO RGD 1313299 MDM2 HP:0000822 MIM:618681|PMID:28846075|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20250912 HPO RGD 1313299 MDM2 HP:0001482 ORPHA:99971|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0001620 MIM:618681|PMID:28846075|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20250912 HPO RGD 1313299 MDM2 HP:0001909 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0002216 MIM:618681|PMID:28846075|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20250912 HPO RGD 1313299 MDM2 HP:0002225 MIM:618681|PMID:28846075|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20250912 HPO RGD 1313299 MDM2 HP:0002579 ORPHA:99971|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0002664 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0002665 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0002669 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0002859 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0002861 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0002863 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0002885 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0002888 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0002890 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0002894 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0003002 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0003003 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0003003 RGD:8554872 IAGP RGD:713819941 H MDM2 proto-oncogene gene taxon:9606 20260519 ClinVar RGD 1313299 MDM2 HP:0003003 RGD:8554872 IAGP RGD:714070088 H MDM2 proto-oncogene gene taxon:9606 20260519 ClinVar RGD 1313299 MDM2 HP:0004322 MIM:618681|PMID:28846075|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20250912 HPO RGD 1313299 MDM2 HP:0004808 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0004808 RGD:8554872 IAGP RGD:713656126 H MDM2 proto-oncogene gene taxon:9606 20260519 ClinVar RGD 1313299 MDM2 HP:0006721 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0006744 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0007378 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0009592 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0009726 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0010788 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0012125 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0012126 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0012126 RGD:8554872 IAGP RGD:713796851 H MDM2 proto-oncogene gene taxon:9606 20260519 ClinVar RGD 1313299 MDM2 HP:0012174 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0012189 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0012211 ORPHA:99971|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0012288 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0012539 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0030070 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0030153 RGD:8554872 IAGP RGD:713986313 H MDM2 proto-oncogene gene taxon:9606 20260519 ClinVar RGD 1313299 MDM2 HP:0030392 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0100006 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0100242 RGD:8554872 IAGP RGD:714070058 H MDM2 proto-oncogene gene taxon:9606 20260519 ClinVar RGD 1313299 MDM2 HP:0100242 RGD:8554872 IAGP RGD:714070080 H MDM2 proto-oncogene gene taxon:9606 20260519 ClinVar RGD 1313299 MDM2 HP:0100526 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0100526 RGD:8554872 IAGP RGD:714070066 H MDM2 proto-oncogene gene taxon:9606 20260519 ClinVar RGD 1313299 MDM2 HP:0100605 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0100615 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0100743 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0100768 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313299 MDM2 HP:0200063 ORPHA:524|RGD:8699517 IAGP H MDM2 proto-oncogene gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0000007 MIM:618300|PMID:30471717|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0000027 MIM:618300|PMID:30471717|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0000119 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0000238 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0000238 PMID:25741868|PMID:28492532|PMID:30471718|RGD:8554872 IAGP RGD:13612163 H dynein axonemal heavy chain 9 gene taxon:9606 20220420 ClinVar RGD 1313302 DNAH9 HP:0000238 PMID:28492532|RGD:8554872 IAGP RGD:150457266 H dynein axonemal heavy chain 9 gene taxon:9606 20220420 ClinVar RGD 1313302 DNAH9 HP:0000365 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0000389 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0000403 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0000405 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0000510 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0000750 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0000787 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0000789 MIM:618300|PMID:30471717|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0000798 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152123234 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0000798 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:329352463 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0000924 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0001217 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0001256 PMID:16199547|PMID:25741868|PMID:28492532|PMID:30471718|RGD:8554872 IAGP RGD:40889719 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0001396 PMID:25741868|RGD:8554872 IAGP RGD:713624014 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0001605 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0001627 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0001629 PMID:16199547|PMID:25741868|PMID:28492532|PMID:30471718|RGD:8554872 IAGP RGD:40889719 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0001643 MIM:618300|PMID:30471718|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0001643 PMID:16199547|PMID:25741868|PMID:28492532|PMID:30471718|RGD:8554872 IAGP RGD:40889719 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0001643 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0001651 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0001669 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0001696 MIM:618300|ORPHA:244|PMID:30471717|PMID:30471718|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0001696 PMID:16199547|PMID:25741868|PMID:28492532|PMID:30471718|RGD:8554872 IAGP RGD:40889719 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0001696 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0001696 PMID:25741868|RGD:8554872 IAGP RGD:401856393 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0001696 PMID:25741868|RGD:8554872 IAGP RGD:401856395 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0001719 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0001734 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0001742 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0001744 PMID:25741868|RGD:8554872 IAGP RGD:730466732 H dynein axonemal heavy chain 9 gene taxon:9606 20260609 ClinVar RGD 1313302 DNAH9 HP:0001746 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0001748 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0001790 PMID:25741868|PMID:28492532|PMID:30471718|PMID:33027564|RGD:8554872 IAGP RGD:127244234 H dynein axonemal heavy chain 9 gene taxon:9606 20250729 ClinVar RGD 1313302 DNAH9 HP:0002011 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0002093 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126911807 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0002099 PMID:25741868|RGD:8554872 IAGP RGD:730466732 H dynein axonemal heavy chain 9 gene taxon:9606 20260609 ClinVar RGD 1313302 DNAH9 HP:0002110 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0002110 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0002110 PMID:25741868|RGD:8554872 IAGP RGD:730466732 H dynein axonemal heavy chain 9 gene taxon:9606 20260609 ClinVar RGD 1313302 DNAH9 HP:0002119 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0002240 PMID:25741868|RGD:8554872 IAGP RGD:730466732 H dynein axonemal heavy chain 9 gene taxon:9606 20260609 ClinVar RGD 1313302 DNAH9 HP:0002257 MIM:618300|ORPHA:244|PMID:30471717|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0002566 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0002643 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0002718 RGD:8554872 IAGP RGD:150545646 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0002719 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0002721 PMID:25741868|RGD:8554872 IAGP RGD:730466732 H dynein axonemal heavy chain 9 gene taxon:9606 20260609 ClinVar RGD 1313302 DNAH9 HP:0002748 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0002861 RGD:8554872 IAGP RGD:714002654 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0002878 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0003193 PMID:25741868|RGD:8554872 IAGP RGD:730466732 H dynein axonemal heavy chain 9 gene taxon:9606 20260609 ClinVar RGD 1313302 DNAH9 HP:0003251 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0003256 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0003577 MIM:618300|PMID:30471717|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0003621 MIM:618300|PMID:30471717|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0003645 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0004313 PMID:25741868|RGD:8554872 IAGP RGD:730466732 H dynein axonemal heavy chain 9 gene taxon:9606 20260609 ClinVar RGD 1313302 DNAH9 HP:0004322 PMID:16199547|PMID:25741868|PMID:28492532|PMID:30471718|RGD:8554872 IAGP RGD:40889719 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0004415 PMID:16199547|PMID:25741868|PMID:28492532|PMID:30471718|RGD:8554872 IAGP RGD:40889719 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0004429 RGD:8554872 IAGP RGD:150545646 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0004808 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15201201 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0005301 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0005352 RGD:8554872 IAGP RGD:150545646 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0005425 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0005912 PMID:25741868|RGD:8554872 IAGP RGD:401856393 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0005912 PMID:25741868|RGD:8554872 IAGP RGD:401856395 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0005987 PMID:25741868|RGD:8554872 IAGP RGD:730466732 H dynein axonemal heavy chain 9 gene taxon:9606 20260609 ClinVar RGD 1313302 DNAH9 HP:0006532 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0006536 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0006695 MIM:618300|PMID:30471718|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0008151 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0008222 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0010772 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0011109 MIM:618300|ORPHA:244|PMID:30471717|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0011274 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0011463 MIM:618300|PMID:30471717|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0011535 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0011539 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0011540 MIM:618300|PMID:30471717|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0011579 MIM:618300|PMID:30471717|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0011617 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0011671 MIM:618300|PMID:30471718|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0011947 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0012020 MIM:618300|PMID:30471718|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0012125 RGD:8554872 IAGP RGD:9686897 H dynein axonemal heavy chain 9 gene taxon:9606 20250729 ClinVar RGD 1313302 DNAH9 HP:0012126 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15201201 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0012126 RGD:8554872 IAGP RGD:714134577 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0012126 RGD:8554872 IAGP RGD:714134591 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0012126 RGD:8554872 IAGP RGD:714134602 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0012126 RGD:8554872 IAGP RGD:714134625 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0012206 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0012206 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152123234 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0012206 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:329352463 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0012256 MIM:618300|PMID:30471718|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0012735 MIM:618300|PMID:30471717|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0012864 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152123234 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0012864 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:329352463 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0025177 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0025576 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0030049 RGD:8554872 IAGP RGD:150545646 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0030153 RGD:8554872 IAGP RGD:714002620 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0030359 RGD:8554872 IAGP RGD:714002638 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0030680 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0030680 PMID:25741868|PMID:28492532|PMID:30471718|RGD:8554872 IAGP RGD:13612163 H dynein axonemal heavy chain 9 gene taxon:9606 20220420 ClinVar RGD 1313302 DNAH9 HP:0030680 PMID:25741868|RGD:8554872 IAGP RGD:13612161 H dynein axonemal heavy chain 9 gene taxon:9606 20210323 ClinVar RGD 1313302 DNAH9 HP:0030828 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0030853 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0030889 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0031245 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0031456 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20240425 HPO RGD 1313302 DNAH9 HP:0031854 MIM:618300|PMID:30471718|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0032016 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0032342 MIM:618300|PMID:30471717|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0032543 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0033036 MIM:618300|PMID:30471717|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0033158 MIM:618300|PMID:30471717|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20250912 HPO RGD 1313302 DNAH9 HP:0100242 RGD:8554872 IAGP RGD:714002648 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0100242 RGD:8554872 IAGP RGD:714002676 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0100242 RGD:8554872 IAGP RGD:714002717 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0100512 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0100526 RGD:8554872 IAGP RGD:714002628 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313302 DNAH9 HP:0100582 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0100750 ORPHA:244|RGD:8699517 IAGP H dynein axonemal heavy chain 9 gene taxon:9606 20230821 HPO RGD 1313302 DNAH9 HP:0100753 RGD:8554872 IAGP RGD:155794439 H dynein axonemal heavy chain 9 gene taxon:9606 20230110 ClinVar RGD 1313302 DNAH9 HP:0100867 PMID:25741868|RGD:8554872 IAGP RGD:151348439 H dynein axonemal heavy chain 9 gene taxon:9606 20260519 ClinVar RGD 1313304 CIZ1 HP:0000473 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313304 CIZ1 HP:0001272 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313304 CIZ1 HP:0001288 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20240815 HPO RGD 1313304 CIZ1 HP:0001332 PMID:22447717|PMID:28492532|RGD:8554872 IAGP RGD:8604329 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20220420 ClinVar RGD 1313304 CIZ1 HP:0001332 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150489495 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20241008 ClinVar RGD 1313304 CIZ1 HP:0001332 PMID:28492532|RGD:8554872 IAGP RGD:150491321 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20220510 ClinVar RGD 1313304 CIZ1 HP:0001332 PMID:28492532|RGD:8554872 IAGP RGD:15172622 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20210323 ClinVar RGD 1313304 CIZ1 HP:0001332 PMID:28492532|RGD:8554872 IAGP RGD:26897359 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20210323 ClinVar RGD 1313304 CIZ1 HP:0001332 PMID:28492532|RGD:8554872 IAGP RGD:38485514 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20210323 ClinVar RGD 1313304 CIZ1 HP:0001332 PMID:28492532|RGD:8554872 IAGP RGD:405247552 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20240403 ClinVar RGD 1313304 CIZ1 HP:0001336 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313304 CIZ1 HP:0001618 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313304 CIZ1 HP:0002120 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313304 CIZ1 HP:0002317 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313304 CIZ1 HP:0002346 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313304 CIZ1 HP:0002356 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313304 CIZ1 HP:0002530 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313304 CIZ1 HP:0002883 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313304 CIZ1 HP:0004373 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313304 CIZ1 HP:0004808 RGD:8554872 IAGP RGD:713506213 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20260519 ClinVar RGD 1313304 CIZ1 HP:0004808 RGD:8554872 IAGP RGD:714254624 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20260519 ClinVar RGD 1313304 CIZ1 HP:0004808 RGD:8554872 IAGP RGD:714256607 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20260519 ClinVar RGD 1313304 CIZ1 HP:0005115 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313304 CIZ1 HP:0012126 RGD:8554872 IAGP RGD:713718469 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20260519 ClinVar RGD 1313304 CIZ1 HP:0012179 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313304 CIZ1 HP:0012893 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313304 CIZ1 HP:0025269 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313304 CIZ1 HP:0100242 RGD:8554872 IAGP RGD:713509437 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20260519 ClinVar RGD 1313304 CIZ1 HP:0100242 RGD:8554872 IAGP RGD:713509565 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20260519 ClinVar RGD 1313304 CIZ1 HP:0100242 RGD:8554872 IAGP RGD:713509627 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20260519 ClinVar RGD 1313304 CIZ1 HP:0100242 RGD:8554872 IAGP RGD:713718485 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20260519 ClinVar RGD 1313304 CIZ1 HP:0100522 RGD:8554872 IAGP RGD:713509467 H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20260519 ClinVar RGD 1313304 CIZ1 HP:0200085 ORPHA:420492|RGD:8699517 IAGP H CDKN1A interacting zinc finger protein 1 gene taxon:9606 20230821 HPO RGD 1313307 HIC2 HP:6000852 PMID:21681106|RGD:8554872 IAGP RGD:41407571 H HIC ZBTB transcriptional repressor 2 gene taxon:9606 20240709 ClinVar RGD 1313309 DAP3 HP:0000007 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0000479 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0000786 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0001249 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0001250 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0001251 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0001256 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20260209 HPO RGD 1313309 DAP3 HP:0001263 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0001399 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0001402 RGD:8554872 IAGP RGD:713752584 H death associated protein 3 gene taxon:9606 20260519 ClinVar RGD 1313309 DAP3 HP:0001943 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0002240 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0003128 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0004322 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0006770 RGD:8554872 IAGP RGD:713366773 H death associated protein 3 gene taxon:9606 20260519 ClinVar RGD 1313309 DAP3 HP:0008209 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0008232 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0008619 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0010464 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0011463 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0011969 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0012126 RGD:8554872 IAGP RGD:713939249 H death associated protein 3 gene taxon:9606 20260519 ClinVar RGD 1313309 DAP3 HP:0012622 MIM:621101|PMID:39701103|RGD:8699517 IAGP H death associated protein 3 gene taxon:9606 20251023 HPO RGD 1313309 DAP3 HP:0100522 RGD:8554872 IAGP RGD:713366265 H death associated protein 3 gene taxon:9606 20260519 ClinVar RGD 1313309 DAP3 HP:0100526 RGD:8554872 IAGP RGD:713584471 H death associated protein 3 gene taxon:9606 20260519 ClinVar RGD 1313311 CEP55 HP:0000007 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0000089 MIM:236500|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250814 HPO RGD 1313311 CEP55 HP:0000107 MIM:236500|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250814 HPO RGD 1313311 CEP55 HP:0000110 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0000308 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0000369 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0000414 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0000418 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0000452 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0000463 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0000470 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0000476 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0000954 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0001156 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0001197 PMID:25741868|RGD:8554872 IAGP RGD:151349156 H centrosomal protein 55 gene taxon:9606 20220208 ClinVar RGD 1313311 CEP55 HP:0001321 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0001562 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0001762 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0002009 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0002089 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0002133 PMID:25741868|RGD:8554872 IAGP RGD:14691605 H centrosomal protein 55 gene taxon:9606 20260519 ClinVar RGD 1313311 CEP55 HP:0002324 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0002365 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0002804 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0003003 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152121708 H centrosomal protein 55 gene taxon:9606 20260519 ClinVar RGD 1313311 CEP55 HP:0003811 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0003826 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0004209 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0004691 MIM:236500|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250814 HPO RGD 1313311 CEP55 HP:0005989 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0007716 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152121708 H centrosomal protein 55 gene taxon:9606 20260519 ClinVar RGD 1313311 CEP55 HP:0012300 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0012725 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0030153 RGD:8554872 IAGP RGD:714012340 H centrosomal protein 55 gene taxon:9606 20260519 ClinVar RGD 1313311 CEP55 HP:0045025 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313311 CEP55 HP:0100522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152121708 H centrosomal protein 55 gene taxon:9606 20260519 ClinVar RGD 1313311 CEP55 HP:4000150 MIM:236500|PMID:28264986|RGD:8699517 IAGP H centrosomal protein 55 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000006 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000007 MIM:212500|PMID:26788539|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000160 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000160 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0000252 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0000319 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000325 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000325 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0000347 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000347 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0000444 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000519 PMID:25741868|RGD:8554872 IAGP RGD:150529978 H LEM domain nuclear envelope protein 2 gene taxon:9606 20250729 ClinVar RGD 1313312 LEMD2 HP:0000520 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000520 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0000586 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000668 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000678 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0000680 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000706 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000855 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000894 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0000894 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0000963 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0001015 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0001015 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0001118 MIM:212500|PMID:26788539|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0001118 PMID:26788539|RGD:8554872 IAGP RGD:11345347 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0001324 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0001402 RGD:8554872 IAGP RGD:713760517 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1313312 LEMD2 HP:0001402 RGD:8554872 IAGP RGD:713760530 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1313312 LEMD2 HP:0001510 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0001510 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0001511 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0001645 MIM:212500|PMID:26788539|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0001788 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0002003 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0002080 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0002080 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0002645 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0003429 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0003758 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0004322 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0004349 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0004349 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0004396 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0004411 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0005144 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0005328 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0006283 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0010444 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0011069 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0011119 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313312 LEMD2 HP:0011675 MIM:212500|PMID:26788539|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0011712 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0011800 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0030890 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0031846 MIM:619322|PMID:30905398|RGD:8699517 IAGP H LEM domain nuclear envelope protein 2 gene taxon:9606 20250912 HPO RGD 1313312 LEMD2 HP:0100522 RGD:8554872 IAGP RGD:714084081 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260519 ClinVar RGD 1313312 LEMD2 HP:0100578 PMID:25741868|RGD:8554872 IAGP RGD:34890823 H LEM domain nuclear envelope protein 2 gene taxon:9606 20260602 ClinVar RGD 1313314 ARHGAP9 HP:0001402 RGD:8554872 IAGP RGD:713352054 H Rho GTPase activating protein 9 gene taxon:9606 20260519 ClinVar RGD 1313314 ARHGAP9 HP:0002861 RGD:8554872 IAGP RGD:714064215 H Rho GTPase activating protein 9 gene taxon:9606 20260519 ClinVar RGD 1313314 ARHGAP9 HP:0003003 RGD:8554872 IAGP RGD:714064169 H Rho GTPase activating protein 9 gene taxon:9606 20260519 ClinVar RGD 1313314 ARHGAP9 HP:0006770 RGD:8554872 IAGP RGD:714064191 H Rho GTPase activating protein 9 gene taxon:9606 20260519 ClinVar RGD 1313314 ARHGAP9 HP:0011797 RGD:8554872 IAGP RGD:713655627 H Rho GTPase activating protein 9 gene taxon:9606 20260519 ClinVar RGD 1313314 ARHGAP9 HP:0100242 RGD:8554872 IAGP RGD:714064117 H Rho GTPase activating protein 9 gene taxon:9606 20260519 ClinVar RGD 1313314 ARHGAP9 HP:0100522 RGD:8554872 IAGP RGD:713795460 H Rho GTPase activating protein 9 gene taxon:9606 20260519 ClinVar RGD 1313314 ARHGAP9 HP:0100522 RGD:8554872 IAGP RGD:713795472 H Rho GTPase activating protein 9 gene taxon:9606 20260519 ClinVar RGD 1313314 ARHGAP9 HP:0100522 RGD:8554872 IAGP RGD:714064225 H Rho GTPase activating protein 9 gene taxon:9606 20260519 ClinVar RGD 1313316 EMILIN2 HP:0001402 RGD:8554872 IAGP RGD:713360759 H elastin microfibril interfacer 2 gene taxon:9606 20260519 ClinVar RGD 1313316 EMILIN2 HP:0004808 RGD:8554872 IAGP RGD:714186043 H elastin microfibril interfacer 2 gene taxon:9606 20260519 ClinVar RGD 1313316 EMILIN2 HP:0030153 RGD:8554872 IAGP RGD:713738012 H elastin microfibril interfacer 2 gene taxon:9606 20260519 ClinVar RGD 1313316 EMILIN2 HP:0100242 RGD:8554872 IAGP RGD:713737260 H elastin microfibril interfacer 2 gene taxon:9606 20260519 ClinVar RGD 1313316 EMILIN2 HP:0100242 RGD:8554872 IAGP RGD:713738028 H elastin microfibril interfacer 2 gene taxon:9606 20260519 ClinVar RGD 1313316 EMILIN2 HP:0100242 RGD:8554872 IAGP RGD:714187719 H elastin microfibril interfacer 2 gene taxon:9606 20260519 ClinVar RGD 1313320 FARP1 HP:0001402 RGD:8554872 IAGP RGD:713353079 H FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene taxon:9606 20260519 ClinVar RGD 1313320 FARP1 HP:0002861 RGD:8554872 IAGP RGD:713885682 H FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene taxon:9606 20260519 ClinVar RGD 1313320 FARP1 HP:0002861 RGD:8554872 IAGP RGD:713885778 H FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene taxon:9606 20260519 ClinVar RGD 1313320 FARP1 HP:0002861 RGD:8554872 IAGP RGD:713885830 H FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene taxon:9606 20260519 ClinVar RGD 1313320 FARP1 HP:0006770 RGD:8554872 IAGP RGD:713885632 H FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene taxon:9606 20260519 ClinVar RGD 1313320 FARP1 HP:0006770 RGD:8554872 IAGP RGD:713885661 H FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene taxon:9606 20260519 ClinVar RGD 1313320 FARP1 HP:0012126 RGD:8554872 IAGP RGD:713806814 H FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene taxon:9606 20260519 ClinVar RGD 1313320 FARP1 HP:0012126 RGD:8554872 IAGP RGD:713806831 H FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene taxon:9606 20260519 ClinVar RGD 1313320 FARP1 HP:0012126 RGD:8554872 IAGP RGD:713806846 H FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene taxon:9606 20260519 ClinVar RGD 1313320 FARP1 HP:0100242 RGD:8554872 IAGP RGD:713885613 H FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene taxon:9606 20260519 ClinVar RGD 1313320 FARP1 HP:0100242 RGD:8554872 IAGP RGD:713885794 H FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene taxon:9606 20260519 ClinVar RGD 1313320 FARP1 HP:0100522 RGD:8554872 IAGP RGD:713885778 H FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene taxon:9606 20260519 ClinVar RGD 1313320 FARP1 HP:0100526 RGD:8554872 IAGP RGD:713885778 H FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene taxon:9606 20260519 ClinVar RGD 1313320 FARP1 HP:0100526 RGD:8554872 IAGP RGD:713885845 H FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene taxon:9606 20260519 ClinVar RGD 1313320 FARP1 HP:0100526 RGD:8554872 IAGP RGD:713885875 H FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene taxon:9606 20260519 ClinVar RGD 1313328 MATN2 HP:0001402 RGD:8554872 IAGP RGD:714086889 H matrilin 2 gene taxon:9606 20260519 ClinVar RGD 1313328 MATN2 HP:0001402 RGD:8554872 IAGP RGD:714156873 H matrilin 2 gene taxon:9606 20260519 ClinVar RGD 1313328 MATN2 HP:0002861 RGD:8554872 IAGP RGD:713470843 H matrilin 2 gene taxon:9606 20260519 ClinVar RGD 1313328 MATN2 HP:0002861 RGD:8554872 IAGP RGD:713679814 H matrilin 2 gene taxon:9606 20260519 ClinVar RGD 1313328 MATN2 HP:0004808 RGD:8554872 IAGP RGD:713490884 H matrilin 2 gene taxon:9606 20260519 ClinVar RGD 1313328 MATN2 HP:0006770 RGD:8554872 IAGP RGD:713470866 H matrilin 2 gene taxon:9606 20260519 ClinVar RGD 1313328 MATN2 HP:0012126 RGD:8554872 IAGP RGD:713679787 H matrilin 2 gene taxon:9606 20260707 ClinVar RGD 1313328 MATN2 HP:0030153 RGD:8554872 IAGP RGD:713490884 H matrilin 2 gene taxon:9606 20260519 ClinVar RGD 1313328 MATN2 HP:0030153 RGD:8554872 IAGP RGD:713679787 H matrilin 2 gene taxon:9606 20260519 ClinVar RGD 1313328 MATN2 HP:0100526 RGD:8554872 IAGP RGD:713471056 H matrilin 2 gene taxon:9606 20260519 ClinVar RGD 1313328 MATN2 HP:0100526 RGD:8554872 IAGP RGD:713490884 H matrilin 2 gene taxon:9606 20260519 ClinVar RGD 1313330 LSM7 HP:0000007 MIM:621191|PMID:35047835|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0000047 MIM:621191|PMID:35047835|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0000407 MIM:621191|PMID:35047835|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0000486 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0000639 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0000739 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0000952 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0001249 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0001250 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0001251 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0001257 MIM:621191|PMID:35047835|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0001263 MIM:621191|PMID:35047835|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0001285 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0001321 MIM:621191|PMID:35047835|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0001337 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0001622 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0002084 MIM:621191|PMID:35047835|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0002098 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0002172 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0002186 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0002273 MIM:621191|PMID:35047835|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0002360 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0002415 MIM:621191|PMID:35047835|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0002415 RGD:8554872 IAGP RGD:150333721 H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1313330 LSM7 HP:0007308 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0007325 RGD:8554872 IAGP RGD:150333721 H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1313330 LSM7 HP:0007360 RGD:8554872 IAGP RGD:150333721 H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1313330 LSM7 HP:0008780 RGD:8554872 IAGP RGD:150333721 H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1313330 LSM7 HP:0008936 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0010865 MIM:621191|PMID:39420558|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0010880 MIM:621191|PMID:35047835|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0011344 RGD:8554872 IAGP RGD:150333721 H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260602 ClinVar RGD 1313330 LSM7 HP:0011968 MIM:621191|PMID:35047835|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313330 LSM7 HP:0034197 MIM:621191|PMID:35047835|RGD:8699517 IAGP H LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0000006 MIM:141200|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20230821 HPO RGD 1313332 COL4A4 HP:0000007 MIM:203780|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20230821 HPO RGD 1313332 COL4A4 HP:0000010 RGD:8554872 IAGP RGD:405853910 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000077 PMID:12028435|PMID:16467446|PMID:17396119|PMID:17942953|PMID:24033287|PMID:24046192|PMID:24854265|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:29801666|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596|PMID:36349757|PMID:39443691|RGD:8554872 IAGP RGD:13611996 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000077 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24033287|PMID:24046192|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:33048202|PMID:33838161|PMID:34584596|PMID:35090027|PMID:38317457|RGD:8554872 IAGP RGD:13611999 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0000077 PMID:25741868|RGD:8554872 IAGP RGD:401855359 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000077 RGD:8554872 IAGP RGD:407470107 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000081 PMID:25741868|PMID:28492532|PMID:28632965|PMID:33369211|RGD:8554872 IAGP RGD:13787050 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000083 MIM:203780|MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0000083 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405853732 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000083 PMID:25741868|RGD:8554872 IAGP RGD:155645340 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000083 PMID:25741868|RGD:8554872 IAGP RGD:405026961 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000083 PMID:25741868|RGD:8554872 IAGP RGD:405853862 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000083 PMID:25741868|RGD:8554872 IAGP RGD:408365302 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000083 PMID:28492532|RGD:8554872 IAGP RGD:407470154 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000083 RGD:8554872 IAGP RGD:405867344 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000083 RGD:8554872 IAGP RGD:407469919 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000083 RGD:8554872 IAGP RGD:407470107 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000089 PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:21897443|PMID:24046192|PMID:25741868|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28704582|PMID:37464296|RGD:8554872 IAGP RGD:127256220 H collagen type IV alpha 4 chain gene taxon:9606 20260616 ClinVar RGD 1313332 COL4A4 HP:0000089 PMID:25741868|RGD:8554872 IAGP RGD:25314738 H collagen type IV alpha 4 chain gene taxon:9606 20260609 ClinVar RGD 1313332 COL4A4 HP:0000091 PMID:25741868|RGD:8554872 IAGP RGD:408365302 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000092 RGD:8554872 IAGP RGD:405853910 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 MIM:203780|MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0000093 PMID:11375996|PMID:25741868|PMID:26809805|PMID:28492532|PMID:36100708|RGD:8554872 IAGP RGD:13782810 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:12028435|PMID:12325029|PMID:12631110|PMID:16467446|PMID:17942953|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26346198|PMID:28492532|PMID:28704582|RGD:8554872 IAGP RGD:13484535 H collagen type IV alpha 4 chain gene taxon:9606 20260602 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:21897443|PMID:24046192|PMID:25741868|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28704582|PMID:37464296|RGD:8554872 IAGP RGD:127256220 H collagen type IV alpha 4 chain gene taxon:9606 20260616 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:12028435|PMID:16467446|PMID:17396119|PMID:17942953|PMID:24033287|PMID:24046192|PMID:24854265|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:29801666|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596|PMID:36349757|PMID:39443691|RGD:8554872 IAGP RGD:13611996 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24033287|PMID:24046192|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:33048202|PMID:33838161|PMID:34584596|PMID:35090027|PMID:38317457|RGD:8554872 IAGP RGD:13611999 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:25307543|PMID:25741868|PMID:27281700|PMID:28492532|PMID:28704582|PMID:30745910|PMID:32604935|PMID:33095447|PMID:33532864|PMID:35683636|PMID:38317457|PMID:39558648|PMID:9792860|RGD:8554872 IAGP RGD:13791390 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:25741868|PMID:28492532|PMID:28704582|PMID:33838161|PMID:38317457|PMID:38837003|PMID:38972501|RGD:8554872 IAGP RGD:12899710 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:17576681|PMID:26467025|PMID:28492532|PMID:35759000|PMID:9536098|RGD:8554872 IAGP RGD:13481717 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:19129241|PMID:25741868|PMID:29801666|RGD:8554872 IAGP RGD:401940601 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:23551117|PMID:24398087|PMID:25741868|PMID:32647767|RGD:8554872 IAGP RGD:10045313 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:24633401|PMID:25741868|PMID:27281700|PMID:28492532|PMID:31677115|RGD:8554872 IAGP RGD:13782891 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:25741868|PMID:26467025|PMID:28492532|PMID:30647093|PMID:31408864|RGD:8554872 IAGP RGD:15112323 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:25741868|PMID:28492532|PMID:32939031|PMID:35325889|RGD:8554872 IAGP RGD:38598788 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:25741868|PMID:28492532|PMID:32939031|PMID:38178635|RGD:8554872 IAGP RGD:11634421 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405853732 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:25741868|RGD:8554872 IAGP RGD:151728971 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:25741868|RGD:8554872 IAGP RGD:151729201 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:25741868|RGD:8554872 IAGP RGD:152979242 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:25741868|RGD:8554872 IAGP RGD:155268068 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:25741868|RGD:8554872 IAGP RGD:243053072 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:25741868|RGD:8554872 IAGP RGD:401855359 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:25741868|RGD:8554872 IAGP RGD:736711378 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0000093 PMID:28492532|RGD:8554872 IAGP RGD:407470154 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 RGD:8554872 IAGP RGD:405291176 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 RGD:8554872 IAGP RGD:405745047 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 RGD:8554872 IAGP RGD:405746336 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 RGD:8554872 IAGP RGD:405853619 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 RGD:8554872 IAGP RGD:405853775 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 RGD:8554872 IAGP RGD:405853910 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 RGD:8554872 IAGP RGD:405853997 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 RGD:8554872 IAGP RGD:407469919 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 RGD:8554872 IAGP RGD:407469937 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 RGD:8554872 IAGP RGD:407470120 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 RGD:8554872 IAGP RGD:407470160 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000093 RGD:8554872 IAGP RGD:713956962 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000095 PMID:25741868|RGD:8554872 IAGP RGD:13838601 H collagen type IV alpha 4 chain gene taxon:9606 20260616 ClinVar RGD 1313332 COL4A4 HP:0000095 RGD:8554872 IAGP RGD:407572866 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000096 RGD:8554872 IAGP RGD:405746048 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000096 RGD:8554872 IAGP RGD:405853910 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000097 PMID:12028435|PMID:16467446|PMID:17942953|PMID:20301386|PMID:24046192|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28704582|PMID:30586318|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36161695|RGD:8554872 IAGP RGD:13799152 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0000097 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:25741868|PMID:28476686|PMID:28492532|PMID:28704582|PMID:30968591|PMID:32332277|PMID:32703181|RGD:8554872 IAGP RGD:11598588 H collagen type IV alpha 4 chain gene taxon:9606 20250708 ClinVar RGD 1313332 COL4A4 HP:0000097 PMID:16199547|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151348755 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000097 PMID:17396119|PMID:20029656|PMID:24033266|PMID:25514610|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11590238 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000097 PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|PMID:31049720|PMID:31328266|PMID:31922066|RGD:8554872 IAGP RGD:38490096 H collagen type IV alpha 4 chain gene taxon:9606 20250506 ClinVar RGD 1313332 COL4A4 HP:0000097 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11546418 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000097 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11548545 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000097 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11591898 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000097 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11597957 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000097 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11544295 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000097 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11580570 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000097 PMID:25741868|PMID:30586318|RGD:8554872 IAGP RGD:13799187 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000097 PMID:25741868|RGD:8554872 IAGP RGD:713429461 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000097 PMID:25741868|RGD:8554872 IAGP RGD:730466900 H collagen type IV alpha 4 chain gene taxon:9606 20260609 ClinVar RGD 1313332 COL4A4 HP:0000097 RGD:8554872 IAGP RGD:151713409 H collagen type IV alpha 4 chain gene taxon:9606 20220420 ClinVar RGD 1313332 COL4A4 HP:0000097 RGD:8554872 IAGP RGD:405746048 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000097 RGD:8554872 IAGP RGD:405853910 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000099 PMID:12028435|PMID:12325029|PMID:16467446|PMID:17216251|PMID:17942953|PMID:20301386|PMID:21196518|PMID:24046192|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|PMID:28704582|PMID:30506145|PMID:32939031|PMID:36239278|RGD:8554872 IAGP RGD:13788158 H collagen type IV alpha 4 chain gene taxon:9606 20241210 ClinVar RGD 1313332 COL4A4 HP:0000099 PMID:24633401|PMID:25741868|PMID:27281700|PMID:28492532|PMID:31677115|RGD:8554872 IAGP RGD:13782891 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000099 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38459662 H collagen type IV alpha 4 chain gene taxon:9606 20230214 ClinVar RGD 1313332 COL4A4 HP:0000099 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38459667 H collagen type IV alpha 4 chain gene taxon:9606 20220420 ClinVar RGD 1313332 COL4A4 HP:0000099 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405853732 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000099 PMID:25741868|RGD:8554872 IAGP RGD:405852642 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000099 RGD:8554872 IAGP RGD:405746048 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000100 MIM:203780|MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0000100 PMID:25741868|RGD:8554872 IAGP RGD:126745550 H collagen type IV alpha 4 chain gene taxon:9606 20230110 ClinVar RGD 1313332 COL4A4 HP:0000100 PMID:25741868|RGD:8554872 IAGP RGD:38598820 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000100 RGD:8554872 IAGP RGD:126745546 H collagen type IV alpha 4 chain gene taxon:9606 20210406 ClinVar RGD 1313332 COL4A4 HP:0000100 RGD:8554872 IAGP RGD:405746048 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000100 RGD:8554872 IAGP RGD:405853619 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000100 RGD:8554872 IAGP RGD:407469977 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000103 RGD:8554872 IAGP RGD:405853910 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000107 PMID:25741868|RGD:8554872 IAGP RGD:714152547 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000107 RGD:8554872 IAGP RGD:405744934 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000107 RGD:8554872 IAGP RGD:405853840 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000107 RGD:8554872 IAGP RGD:405853910 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000107 RGD:8554872 IAGP RGD:405853962 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000107 RGD:8554872 IAGP RGD:408365292 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000107 RGD:8554872 IAGP RGD:713888394 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000110 PMID:25741868|RGD:8554872 IAGP RGD:401855359 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000112 PMID:12028435|PMID:16467446|PMID:17942953|PMID:22887978|PMID:24033266|PMID:24046192|PMID:25381091|PMID:25741868|PMID:28492532|PMID:28704582|PMID:28976722|PMID:31019026|PMID:31246743|PMID:31589614|PMID:33772369|PMID:35114279|PMID:36130833|PMID:36349777|PMID:36370330|PMID:37097554|PMID:37147621|PMID:9792860|RGD:8554872 IAGP RGD:8600562 H collagen type IV alpha 4 chain gene taxon:9606 20241210 ClinVar RGD 1313332 COL4A4 HP:0000112 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:25741868|PMID:28476686|PMID:28492532|PMID:28704582|PMID:30968591|PMID:32332277|PMID:32703181|RGD:8554872 IAGP RGD:11598588 H collagen type IV alpha 4 chain gene taxon:9606 20250708 ClinVar RGD 1313332 COL4A4 HP:0000112 PMID:1721625|PMID:17216251|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:13808423 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000112 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29924831|RGD:8554872 IAGP RGD:10449866 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000112 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11545396 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000112 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11548643 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000112 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11549697 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000112 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:13483221 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000112 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:13484055 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000112 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:13537804 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000112 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13526900 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000112 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15098588 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000112 PMID:25741868|RGD:8554872 IAGP RGD:28885497 H collagen type IV alpha 4 chain gene taxon:9606 20221108 ClinVar RGD 1313332 COL4A4 HP:0000113 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150533163 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000113 PMID:31922066|RGD:8554872 IAGP RGD:151733001 H collagen type IV alpha 4 chain gene taxon:9606 20220719 ClinVar RGD 1313332 COL4A4 HP:0000123 MIM:203780|MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0000123 PMID:25741868|RGD:8554872 IAGP RGD:405852642 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000125 PMID:25741868|RGD:8554872 IAGP RGD:155645340 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000364 PMID:25741868|RGD:8554872 IAGP RGD:401855359 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000365 MIM:203780|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20230821 HPO RGD 1313332 COL4A4 HP:0000365 PMID:12028435|PMID:16467446|PMID:17396119|PMID:17942953|PMID:24033287|PMID:24046192|PMID:24854265|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:29801666|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596|PMID:36349757|PMID:39443691|RGD:8554872 IAGP RGD:13611996 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000365 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24033287|PMID:24046192|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:33048202|PMID:33838161|PMID:34584596|PMID:35090027|PMID:38317457|RGD:8554872 IAGP RGD:13611999 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0000365 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:25741868|PMID:28492532|PMID:28704582|PMID:33838161|PMID:38317457|PMID:38837003|PMID:38972501|RGD:8554872 IAGP RGD:12899710 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000365 PMID:25741868|PMID:28492532|PMID:32939031|PMID:35325889|RGD:8554872 IAGP RGD:38598788 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:155645340 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:40814986 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000365 PMID:30311386|RGD:8554872 IAGP RGD:126910439 H collagen type IV alpha 4 chain gene taxon:9606 20210511 ClinVar RGD 1313332 COL4A4 HP:0000365 RGD:8554872 IAGP RGD:407469815 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000365 RGD:8554872 IAGP RGD:408393621 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000405 PMID:28492532|RGD:8554872 IAGP RGD:151663434 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000407 MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0000410 PMID:28492532|RGD:8554872 IAGP RGD:151663434 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000505 PMID:25741868|PMID:32939031|RGD:8554872 IAGP RGD:38598776 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000505 PMID:25741868|RGD:8554872 IAGP RGD:25314738 H collagen type IV alpha 4 chain gene taxon:9606 20260609 ClinVar RGD 1313332 COL4A4 HP:0000518 MIM:203780|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20230821 HPO RGD 1313332 COL4A4 HP:0000519 MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0000545 MIM:203780|MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0000545 PMID:12028435|PMID:16467446|PMID:17396119|PMID:17942953|PMID:24033287|PMID:24046192|PMID:24854265|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:29801666|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596|PMID:36349757|PMID:39443691|RGD:8554872 IAGP RGD:13611996 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000545 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24033287|PMID:24046192|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:33048202|PMID:33838161|PMID:34584596|PMID:35090027|PMID:38317457|RGD:8554872 IAGP RGD:13611999 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:150330483 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000707 PMID:28492532|RGD:8554872 IAGP RGD:151663434 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000722 PMID:28492532|RGD:8554872 IAGP RGD:151663434 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:151663434 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000750 PMID:19129241|PMID:25741868|PMID:29801666|RGD:8554872 IAGP RGD:401940601 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 MIM:141200|MIM:203780|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20250416 HPO RGD 1313332 COL4A4 HP:0000790 PMID:12028435|PMID:12325029|PMID:12631110|PMID:16467446|PMID:17942953|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26346198|PMID:28492532|PMID:28704582|RGD:8554872 IAGP RGD:13484535 H collagen type IV alpha 4 chain gene taxon:9606 20260602 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:21897443|PMID:24046192|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28704582|PMID:29801666|PMID:30586318|PMID:33838161|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36100708|PMID:36292665|PMID:37248651|PMID:38790222|RGD:8554872 IAGP RGD:13479229 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:21897443|PMID:24046192|PMID:25741868|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28704582|PMID:37464296|RGD:8554872 IAGP RGD:127256220 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:12028435|PMID:16467446|PMID:17396119|PMID:17942953|PMID:24033287|PMID:24046192|PMID:24854265|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:29801666|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596|PMID:36349757|PMID:39443691|RGD:8554872 IAGP RGD:13611996 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24033287|PMID:24046192|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:33048202|PMID:33838161|PMID:34584596|PMID:35090027|PMID:38317457|RGD:8554872 IAGP RGD:13611999 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:24052634|PMID:24854265|PMID:25741868|PMID:26809805|PMID:28492532|PMID:28632965|PMID:28704582|PMID:28844315|PMID:33772369|PMID:34746741|PMID:35759000|PMID:36349757|PMID:36758113|PMID:37248651|PMID:37353797|PMID:40004525|RGD:8554872 IAGP RGD:11634394 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:25307543|PMID:25741868|PMID:27281700|PMID:28492532|PMID:28704582|PMID:30745910|PMID:32604935|PMID:33095447|PMID:33532864|PMID:35683636|PMID:38317457|PMID:39558648|PMID:9792860|RGD:8554872 IAGP RGD:13791390 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:25741868|PMID:28492532|PMID:28704582|PMID:29801666|PMID:33532864|PMID:33838161|RGD:8554872 IAGP RGD:713798876 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:12028435|PMID:16467446|PMID:24046192|PMID:25741868|PMID:26467025|PMID:26809805|PMID:28492532|PMID:28704582|PMID:29801666|PMID:33838161|PMID:36130833|PMID:36938085|PMID:38978054|PMID:39810285|PMID:40004525|RGD:8554872 IAGP RGD:13470823 H collagen type IV alpha 4 chain gene taxon:9606 20260602 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:16199547|PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:13470146 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:17576681|PMID:24052634|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:25314876 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38471243 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:713472209 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:21196518|PMID:24854265|PMID:25307543|PMID:28492532|RGD:8554872 IAGP RGD:126745561 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:23551117|PMID:24398087|PMID:25741868|PMID:32647767|RGD:8554872 IAGP RGD:10045313 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:24052634|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126752631 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:24052634|PMID:25741868|RGD:8554872 IAGP RGD:13785985 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:24633401|PMID:25741868|PMID:26628290|PMID:28492532|PMID:35369551|PMID:35419377|PMID:40004525|PMID:40044766|RGD:8554872 IAGP RGD:13789728 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:24633401|PMID:25741868|PMID:27281700|PMID:28492532|PMID:31677115|RGD:8554872 IAGP RGD:13782891 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:25741868|PMID:26467025|PMID:28492532|PMID:30586318|RGD:8554872 IAGP RGD:13470007 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:25741868|PMID:28492532|PMID:32939031|PMID:35325889|RGD:8554872 IAGP RGD:38598788 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:25741868|PMID:28492532|PMID:32939031|PMID:38178635|RGD:8554872 IAGP RGD:11634421 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:25741868|PMID:28492532|PMID:36938085|RGD:8554872 IAGP RGD:14698169 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405853732 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:25741868|RGD:8554872 IAGP RGD:126745550 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:25741868|RGD:8554872 IAGP RGD:151729201 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:25741868|RGD:8554872 IAGP RGD:152979242 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:25741868|RGD:8554872 IAGP RGD:155268068 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:25741868|RGD:8554872 IAGP RGD:155645340 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:25741868|RGD:8554872 IAGP RGD:38598811 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:25741868|RGD:8554872 IAGP RGD:401855359 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:25741868|RGD:8554872 IAGP RGD:597772201 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 PMID:28492532|RGD:8554872 IAGP RGD:407470154 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:126745557 H collagen type IV alpha 4 chain gene taxon:9606 20210406 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:14695662 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:401797751 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:401797812 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405291170 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405291176 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405717800 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405717898 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405745047 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405746048 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405746286 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405746336 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405783880 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405852281 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405852321 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405853547 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405853619 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405853910 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405853915 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405853973 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405853997 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405867344 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:405867377 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:407469815 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:407469919 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:407469937 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:407469987 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:407470107 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:407470120 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:407470156 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:407470160 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:407470162 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:407572865 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:408365290 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:596920447 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:597655022 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:713511961 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:713612545 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:713956962 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:713966092 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:713966104 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:714058195 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000790 RGD:8554872 IAGP RGD:714145496 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0000822 MIM:203780|MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0000822 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11551429 H collagen type IV alpha 4 chain gene taxon:9606 20210706 ClinVar RGD 1313332 COL4A4 HP:0000829 MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0001142 MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:151663434 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:40814986 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0001382 RGD:8554872 IAGP RGD:405853730 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0001407 PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151774914 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0001407 RGD:8554872 IAGP RGD:713888394 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0001417 MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0001423 MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:155268068 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0001631 PMID:25741868|PMID:26610912|PMID:28098982|PMID:28492532|PMID:28632965|PMID:31589614|PMID:33838161|PMID:36100708|PMID:36699462|RGD:8554872 IAGP RGD:13786992 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0001639 PMID:25741868|PMID:26610912|PMID:28098982|PMID:28492532|PMID:28632965|PMID:31589614|PMID:33838161|PMID:36100708|PMID:36699462|RGD:8554872 IAGP RGD:13786992 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0001744 RGD:8554872 IAGP RGD:401860211 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0001873 MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0001873 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11551429 H collagen type IV alpha 4 chain gene taxon:9606 20210706 ClinVar RGD 1313332 COL4A4 HP:0001903 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:25307543|PMID:25741868|PMID:27281700|PMID:28492532|PMID:28704582|PMID:30745910|PMID:32604935|PMID:33095447|PMID:33532864|PMID:35683636|PMID:38317457|PMID:39558648|PMID:9792860|RGD:8554872 IAGP RGD:13791390 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0001903 RGD:8554872 IAGP RGD:405746228 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0001919 PMID:19129241|PMID:25741868|PMID:29801666|RGD:8554872 IAGP RGD:401940601 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0001919 PMID:25741868|RGD:8554872 IAGP RGD:25314738 H collagen type IV alpha 4 chain gene taxon:9606 20260609 ClinVar RGD 1313332 COL4A4 HP:0001927 RGD:8554872 IAGP RGD:407470120 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0001967 PMID:25514610|PMID:25741868|PMID:28492532|PMID:28632965|RGD:8554872 IAGP RGD:13787921 H collagen type IV alpha 4 chain gene taxon:9606 20240403 ClinVar RGD 1313332 COL4A4 HP:0001969 RGD:8554872 IAGP RGD:405853619 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0001970 RGD:8554872 IAGP RGD:405853619 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002013 RGD:8554872 IAGP RGD:405746228 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002014 RGD:8554872 IAGP RGD:405746228 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002153 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11551429 H collagen type IV alpha 4 chain gene taxon:9606 20210706 ClinVar RGD 1313332 COL4A4 HP:0002153 PMID:25741868|RGD:8554872 IAGP RGD:12741728 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002650 PMID:25741868|RGD:8554872 IAGP RGD:155268068 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002719 RGD:8554872 IAGP RGD:405746228 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002829 RGD:8554872 IAGP RGD:405853730 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0002907 PMID:12028435|PMID:12325029|PMID:12631110|PMID:16467446|PMID:17942953|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26346198|PMID:28492532|PMID:28704582|RGD:8554872 IAGP RGD:13484535 H collagen type IV alpha 4 chain gene taxon:9606 20260602 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:21897443|PMID:24046192|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28704582|PMID:29801666|PMID:30586318|PMID:33838161|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36100708|PMID:36292665|PMID:37248651|PMID:38790222|RGD:8554872 IAGP RGD:13479229 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:24052634|PMID:24854265|PMID:25741868|PMID:26809805|PMID:28492532|PMID:28632965|PMID:28704582|PMID:28844315|PMID:33772369|PMID:34746741|PMID:35759000|PMID:36349757|PMID:36758113|PMID:37248651|PMID:37353797|PMID:40004525|RGD:8554872 IAGP RGD:11634394 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:25741868|PMID:28492532|PMID:28704582|PMID:33838161|PMID:38317457|PMID:38837003|PMID:38972501|RGD:8554872 IAGP RGD:12899710 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:25741868|PMID:28492532|PMID:28704582|PMID:36925663|RGD:8554872 IAGP RGD:151739808 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:12028435|PMID:16467446|PMID:24046192|PMID:25741868|PMID:26467025|PMID:26809805|PMID:28492532|PMID:28704582|PMID:29801666|PMID:33838161|PMID:36130833|PMID:36938085|PMID:38978054|PMID:39810285|PMID:40004525|RGD:8554872 IAGP RGD:13470823 H collagen type IV alpha 4 chain gene taxon:9606 20260602 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:14582039|PMID:25741868|PMID:26467025|PMID:26809805|PMID:28492532|PMID:36117978|PMID:37097554|PMID:8787673|RGD:8554872 IAGP RGD:8600559 H collagen type IV alpha 4 chain gene taxon:9606 20260616 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:16199547|PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13435569 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:17576681|PMID:26467025|PMID:28492532|PMID:35759000|PMID:9536098|RGD:8554872 IAGP RGD:13481717 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:23551117|PMID:24398087|PMID:25741868|PMID:32647767|RGD:8554872 IAGP RGD:10045313 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:24052634|PMID:25741868|PMID:26809805|PMID:28492532|RGD:8554872 IAGP RGD:126727248 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:25741868|PMID:26467025|PMID:28492532|PMID:30647093|PMID:31408864|RGD:8554872 IAGP RGD:15112323 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:25741868|PMID:28492532|PMID:28632965|PMID:33369211|RGD:8554872 IAGP RGD:13787050 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:25741868|PMID:28492532|PMID:29801666|PMID:31328266|PMID:33233744|PMID:33369211|PMID:33532864|PMID:33838161|PMID:36130833|RGD:8554872 IAGP RGD:26903693 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126764814 H collagen type IV alpha 4 chain gene taxon:9606 20210907 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:25741868|RGD:8554872 IAGP RGD:151728971 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:25741868|RGD:8554872 IAGP RGD:152155744 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:25741868|RGD:8554872 IAGP RGD:155794900 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:25741868|RGD:8554872 IAGP RGD:243052506 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:25741868|RGD:8554872 IAGP RGD:401855359 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:25741868|RGD:8554872 IAGP RGD:736711378 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0002907 PMID:28492532|RGD:8554872 IAGP RGD:407470154 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:155794898 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:155794899 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:401797751 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:401797812 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405291176 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405717800 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405717898 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405745047 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405746286 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405746336 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405852281 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405852321 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405853547 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405853775 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405853910 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405853915 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405853973 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405853997 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405867344 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:405867377 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:407469815 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:407470107 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:407470120 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:407470156 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:407470160 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:407470162 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:407572865 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:408365290 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:408365292 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:408393579 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:408393621 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:596941191 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:597654453 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:597655022 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0002907 RGD:8554872 IAGP RGD:713956962 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0003010 PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:21897443|PMID:24046192|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28704582|PMID:29801666|PMID:30586318|PMID:33838161|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36100708|PMID:36292665|PMID:37248651|PMID:38790222|RGD:8554872 IAGP RGD:13479229 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0003077 PMID:25741868|RGD:8554872 IAGP RGD:155268068 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0003110 PMID:28492532|RGD:8554872 IAGP RGD:151663434 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0003115 PMID:28492532|RGD:8554872 IAGP RGD:151663434 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0003124 PMID:25741868|RGD:8554872 IAGP RGD:405853862 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0003124 RGD:8554872 IAGP RGD:597654453 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0003259 PMID:25741868|RGD:8554872 IAGP RGD:401855359 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0003676 MIM:203780|MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0003680 MIM:141200|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20230821 HPO RGD 1313332 COL4A4 HP:0003774 MIM:203780|MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0003774 PMID:12028435|PMID:16467446|PMID:17942953|PMID:20301386|PMID:24046192|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28704582|PMID:30586318|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36161695|RGD:8554872 IAGP RGD:13799152 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0003774 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:25741868|PMID:28492532|PMID:28704582|PMID:33532864|PMID:33838161|PMID:9792860|RGD:8554872 IAGP RGD:41406714 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0003774 PMID:16199547|PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|PMID:28632965|RGD:8554872 IAGP RGD:13799200 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0003774 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11551429 H collagen type IV alpha 4 chain gene taxon:9606 20210706 ClinVar RGD 1313332 COL4A4 HP:0003774 PMID:25741868|RGD:8554872 IAGP RGD:152999046 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0003774 PMID:25741868|RGD:8554872 IAGP RGD:25314738 H collagen type IV alpha 4 chain gene taxon:9606 20260609 ClinVar RGD 1313332 COL4A4 HP:0003774 PMID:25741868|RGD:8554872 IAGP RGD:736711378 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0004322 RGD:8554872 IAGP RGD:40887689 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0004406 PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:21897443|PMID:24046192|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28704582|PMID:29801666|PMID:30586318|PMID:33838161|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36100708|PMID:36292665|PMID:37248651|PMID:38790222|RGD:8554872 IAGP RGD:13479229 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0004722 MIM:203780|MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0004722 PMID:17576681|PMID:26467025|PMID:28492532|PMID:35759000|PMID:9536098|RGD:8554872 IAGP RGD:13481717 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0004743 RGD:8554872 IAGP RGD:405853619 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0004808 RGD:8554872 IAGP RGD:713787304 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0005101 PMID:25741868|RGD:8554872 IAGP RGD:405853862 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0005110 PMID:25741868|PMID:26610912|PMID:28098982|PMID:28492532|PMID:28632965|PMID:31589614|PMID:33838161|PMID:36100708|PMID:36699462|RGD:8554872 IAGP RGD:13786992 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0005562 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:25741868|PMID:28492532|PMID:28704582|PMID:33532864|PMID:33838161|PMID:9792860|RGD:8554872 IAGP RGD:41406714 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0005562 PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151774914 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0005562 PMID:25741868|PMID:28492532|PMID:32939031|PMID:35369551|PMID:36130833|PMID:38262496|PMID:38317457|PMID:5369551|RGD:8554872 IAGP RGD:38456149 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0005562 RGD:8554872 IAGP RGD:405853962 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0005562 RGD:8554872 IAGP RGD:408365292 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0005562 RGD:8554872 IAGP RGD:713888394 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0005978 RGD:8554872 IAGP RGD:597654453 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0006725 PMID:25741868|RGD:8554872 IAGP RGD:713787362 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0006756 MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0006770 PMID:25741868|PMID:33532864|RGD:8554872 IAGP RGD:41406726 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0006770 RGD:8554872 IAGP RGD:713829928 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0006770 RGD:8554872 IAGP RGD:713830086 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0006770 RGD:8554872 IAGP RGD:713830107 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0008064 MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0008504 PMID:25741868|RGD:8554872 IAGP RGD:736711378 H collagen type IV alpha 4 chain gene taxon:9606 20260707 ClinVar RGD 1313332 COL4A4 HP:0008625 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127238161 H collagen type IV alpha 4 chain gene taxon:9606 20260616 ClinVar RGD 1313332 COL4A4 HP:0008625 PMID:25741868|RGD:8554872 IAGP RGD:730466787 H collagen type IV alpha 4 chain gene taxon:9606 20260609 ClinVar RGD 1313332 COL4A4 HP:0009741 PMID:25741868|RGD:8554872 IAGP RGD:408365302 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0009741 RGD:8554872 IAGP RGD:405853910 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0010280 RGD:8554872 IAGP RGD:405746228 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0010775 PMID:19129241|PMID:25741868|PMID:29801666|RGD:8554872 IAGP RGD:401940601 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0010881 PMID:28492532|RGD:8554872 IAGP RGD:151663434 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0010935 RGD:8554872 IAGP RGD:407470107 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0011389 RGD:8554872 IAGP RGD:407469815 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0011501 MIM:203780|MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0011797 RGD:8554872 IAGP RGD:713380109 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0011797 RGD:8554872 IAGP RGD:713386472 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0011797 RGD:8554872 IAGP RGD:713709485 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0011797 RGD:8554872 IAGP RGD:713787290 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012115 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:25307543|PMID:25741868|PMID:27281700|PMID:28492532|PMID:28704582|PMID:30745910|PMID:32604935|PMID:33095447|PMID:33532864|PMID:35683636|PMID:38317457|PMID:39558648|PMID:9792860|RGD:8554872 IAGP RGD:13791390 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012126 PMID:19675380|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11550624 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012126 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:13483221 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012126 PMID:25514610|PMID:25741868|RGD:8554872 IAGP RGD:14745359 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012126 RGD:8554872 IAGP RGD:150422448 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012126 RGD:8554872 IAGP RGD:150502656 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012126 RGD:8554872 IAGP RGD:150510851 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012210 PMID:25741868|RGD:8554872 IAGP RGD:408365302 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012210 RGD:8554872 IAGP RGD:405853840 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012210 RGD:8554872 IAGP RGD:407470107 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405853732 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 PMID:25741868|RGD:8554872 IAGP RGD:408365302 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 PMID:28492532|RGD:8554872 IAGP RGD:150330483 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 PMID:28492532|RGD:8554872 IAGP RGD:151663434 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 PMID:28492532|RGD:8554872 IAGP RGD:407470154 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 RGD:8554872 IAGP RGD:405291176 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 RGD:8554872 IAGP RGD:405746048 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 RGD:8554872 IAGP RGD:405853547 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 RGD:8554872 IAGP RGD:405853619 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 RGD:8554872 IAGP RGD:405867344 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 RGD:8554872 IAGP RGD:407469815 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 RGD:8554872 IAGP RGD:407469919 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 RGD:8554872 IAGP RGD:407469987 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 RGD:8554872 IAGP RGD:407470107 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 RGD:8554872 IAGP RGD:407470120 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 RGD:8554872 IAGP RGD:407470160 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012211 RGD:8554872 IAGP RGD:597655022 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012212 RGD:8554872 IAGP RGD:405853997 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012212 RGD:8554872 IAGP RGD:407469919 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012213 RGD:8554872 IAGP RGD:405853997 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012213 RGD:8554872 IAGP RGD:407469919 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012577 MIM:141200|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20230821 HPO RGD 1313332 COL4A4 HP:0012577 PMID:12028435|PMID:12325029|PMID:12631110|PMID:16467446|PMID:17942953|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26346198|PMID:28492532|PMID:28704582|RGD:8554872 IAGP RGD:13484535 H collagen type IV alpha 4 chain gene taxon:9606 20260602 ClinVar RGD 1313332 COL4A4 HP:0012577 PMID:16199547|PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13435569 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012577 PMID:17576681|PMID:26467025|PMID:28492532|PMID:35759000|PMID:9536098|RGD:8554872 IAGP RGD:13481717 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012577 PMID:25741868|PMID:26467025|PMID:28492532|PMID:30647093|PMID:31408864|RGD:8554872 IAGP RGD:15112323 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012577 PMID:25741868|RGD:8554872 IAGP RGD:13838601 H collagen type IV alpha 4 chain gene taxon:9606 20260616 ClinVar RGD 1313332 COL4A4 HP:0012577 PMID:25741868|RGD:8554872 IAGP RGD:408365302 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012577 RGD:8554872 IAGP RGD:407469838 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012577 RGD:8554872 IAGP RGD:407469989 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012578 PMID:25741868|RGD:8554872 IAGP RGD:405852642 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012582 RGD:8554872 IAGP RGD:401860211 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012587 RGD:8554872 IAGP RGD:155794898 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012587 RGD:8554872 IAGP RGD:405853547 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012587 RGD:8554872 IAGP RGD:713956962 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012588 PMID:16199547|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151348755 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012588 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:21071007 H collagen type IV alpha 4 chain gene taxon:9606 20221206 ClinVar RGD 1313332 COL4A4 HP:0012588 PMID:25741868|RGD:8554872 IAGP RGD:730466900 H collagen type IV alpha 4 chain gene taxon:9606 20260609 ClinVar RGD 1313332 COL4A4 HP:0012590 RGD:8554872 IAGP RGD:405853910 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012592 PMID:28492532|RGD:8554872 IAGP RGD:407470154 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012593 PMID:12028435|PMID:16467446|PMID:17942953|PMID:24046192|PMID:25741868|PMID:28492532|PMID:28704582|PMID:33532864|PMID:33838161|PMID:9792860|RGD:8554872 IAGP RGD:41406714 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012593 RGD:8554872 IAGP RGD:713956962 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012594 PMID:28492532|RGD:8554872 IAGP RGD:407470154 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012595 RGD:8554872 IAGP RGD:405745047 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012595 RGD:8554872 IAGP RGD:405746336 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012595 RGD:8554872 IAGP RGD:713956962 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012596 RGD:8554872 IAGP RGD:405745047 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012596 RGD:8554872 IAGP RGD:405746336 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012596 RGD:8554872 IAGP RGD:713956962 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012597 RGD:8554872 IAGP RGD:713956962 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012614 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405853732 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012614 PMID:28492532|RGD:8554872 IAGP RGD:407470154 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012614 RGD:8554872 IAGP RGD:405291170 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012614 RGD:8554872 IAGP RGD:405291176 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012614 RGD:8554872 IAGP RGD:405852321 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012614 RGD:8554872 IAGP RGD:405853547 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012614 RGD:8554872 IAGP RGD:405853619 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012614 RGD:8554872 IAGP RGD:407469815 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012614 RGD:8554872 IAGP RGD:407469919 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012614 RGD:8554872 IAGP RGD:407469987 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012614 RGD:8554872 IAGP RGD:407470120 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012614 RGD:8554872 IAGP RGD:407470160 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012622 PMID:12028435|PMID:12325029|PMID:12631110|PMID:16467446|PMID:17942953|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26346198|PMID:28492532|PMID:28704582|RGD:8554872 IAGP RGD:13484535 H collagen type IV alpha 4 chain gene taxon:9606 20260602 ClinVar RGD 1313332 COL4A4 HP:0012622 PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:21897443|PMID:24046192|PMID:25741868|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28704582|PMID:37464296|RGD:8554872 IAGP RGD:127256220 H collagen type IV alpha 4 chain gene taxon:9606 20260616 ClinVar RGD 1313332 COL4A4 HP:0012622 PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|PMID:32723786|RGD:8554872 IAGP RGD:28899095 H collagen type IV alpha 4 chain gene taxon:9606 20230214 ClinVar RGD 1313332 COL4A4 HP:0012622 PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:153001518 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012622 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127238161 H collagen type IV alpha 4 chain gene taxon:9606 20260616 ClinVar RGD 1313332 COL4A4 HP:0012622 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150533163 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012622 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405853732 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012622 PMID:25741868|RGD:8554872 IAGP RGD:13838601 H collagen type IV alpha 4 chain gene taxon:9606 20260616 ClinVar RGD 1313332 COL4A4 HP:0012622 PMID:25741868|RGD:8554872 IAGP RGD:243053072 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012622 PMID:25741868|RGD:8554872 IAGP RGD:39456875 H collagen type IV alpha 4 chain gene taxon:9606 20210323 ClinVar RGD 1313332 COL4A4 HP:0012622 PMID:25741868|RGD:8554872 IAGP RGD:408365302 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012622 PMID:25741868|RGD:8554872 IAGP RGD:730466787 H collagen type IV alpha 4 chain gene taxon:9606 20260609 ClinVar RGD 1313332 COL4A4 HP:0012622 PMID:28492532|RGD:8554872 IAGP RGD:407470154 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012622 RGD:8554872 IAGP RGD:405745047 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012622 RGD:8554872 IAGP RGD:405853619 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012622 RGD:8554872 IAGP RGD:405867344 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012622 RGD:8554872 IAGP RGD:407469919 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012622 RGD:8554872 IAGP RGD:407470107 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012623 PMID:28492532|RGD:8554872 IAGP RGD:407470154 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012624 RGD:8554872 IAGP RGD:405853619 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012625 PMID:23551117|PMID:24398087|PMID:25741868|PMID:32647767|RGD:8554872 IAGP RGD:10045313 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012625 RGD:8554872 IAGP RGD:405291149 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012625 RGD:8554872 IAGP RGD:405853962 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012626 RGD:8554872 IAGP RGD:408365292 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012626 RGD:8554872 IAGP RGD:597654453 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012649 RGD:8554872 IAGP RGD:405746228 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0012786 RGD:8554872 IAGP RGD:405853910 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0020129 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405853732 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0020129 PMID:28492532|RGD:8554872 IAGP RGD:407470154 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0020129 RGD:8554872 IAGP RGD:405291176 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0020129 RGD:8554872 IAGP RGD:405745047 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0020129 RGD:8554872 IAGP RGD:405746336 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0020129 RGD:8554872 IAGP RGD:405853619 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0020129 RGD:8554872 IAGP RGD:405853910 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0020129 RGD:8554872 IAGP RGD:405853997 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0020129 RGD:8554872 IAGP RGD:407469919 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0020129 RGD:8554872 IAGP RGD:407470120 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0020129 RGD:8554872 IAGP RGD:407470160 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0020129 RGD:8554872 IAGP RGD:713956962 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0025195 RGD:8554872 IAGP RGD:401860211 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0030034 MIM:203780|MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:0030153 RGD:8554872 IAGP RGD:150502656 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0030652 PMID:25741868|RGD:8554872 IAGP RGD:405853862 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0030772 PMID:25741868|RGD:8554872 IAGP RGD:155268068 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0031266 PMID:25741868|PMID:26467025|PMID:28492532|PMID:30647093|PMID:31408864|RGD:8554872 IAGP RGD:15112323 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0032263 RGD:8554872 IAGP RGD:405853910 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0032316 PMID:25741868|RGD:8554872 IAGP RGD:25314738 H collagen type IV alpha 4 chain gene taxon:9606 20260609 ClinVar RGD 1313332 COL4A4 HP:0032581 PMID:25741868|RGD:8554872 IAGP RGD:408365302 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0032599 RGD:8554872 IAGP RGD:405853910 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0032957 RGD:8554872 IAGP RGD:401797812 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0032957 RGD:8554872 IAGP RGD:405746048 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0032957 RGD:8554872 IAGP RGD:407470120 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0033065 PMID:28492532|RGD:8554872 IAGP RGD:407470154 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0033066 PMID:28492532|RGD:8554872 IAGP RGD:407470154 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0033282 PMID:25741868|RGD:8554872 IAGP RGD:408365302 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0033726 PMID:25741868|RGD:8554872 IAGP RGD:714152547 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0100242 RGD:8554872 IAGP RGD:150510851 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0100242 RGD:8554872 IAGP RGD:713510150 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0100522 PMID:19675380|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11550624 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0100522 RGD:8554872 IAGP RGD:150510851 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0100526 PMID:25514610|PMID:25741868|RGD:8554872 IAGP RGD:14745359 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0100820 PMID:11375996|PMID:25741868|PMID:26809805|PMID:28492532|PMID:36100708|RGD:8554872 IAGP RGD:13782810 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0100820 RGD:8554872 IAGP RGD:407572866 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0100820 RGD:8554872 IAGP RGD:41406207 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:0200020 MIM:203780|MIM:301050|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313332 COL4A4 HP:4000058 RGD:8554872 IAGP RGD:713956962 H collagen type IV alpha 4 chain gene taxon:9606 20260519 ClinVar RGD 1313332 COL4A4 HP:6001026 MIM:301050|PMID:22921432|RGD:8699517 IAGP H collagen type IV alpha 4 chain gene taxon:9606 20260423 HPO RGD 1313336 B4GALT2 HP:0001402 RGD:8554872 IAGP RGD:713362843 H beta-1,4-galactosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313336 B4GALT2 HP:0002861 RGD:8554872 IAGP RGD:713899318 H beta-1,4-galactosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313336 B4GALT2 HP:0002861 RGD:8554872 IAGP RGD:713899335 H beta-1,4-galactosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313336 B4GALT2 HP:0003003 RGD:8554872 IAGP RGD:713899481 H beta-1,4-galactosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313336 B4GALT2 HP:0012126 RGD:8554872 IAGP RGD:714271520 H beta-1,4-galactosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313336 B4GALT2 HP:0100242 RGD:8554872 IAGP RGD:713899968 H beta-1,4-galactosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313336 B4GALT2 HP:0100526 RGD:8554872 IAGP RGD:714271539 H beta-1,4-galactosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313339 ACAP1 HP:0002861 RGD:8554872 IAGP RGD:713360787 H ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene taxon:9606 20260519 ClinVar RGD 1313339 ACAP1 HP:0002861 RGD:8554872 IAGP RGD:713361094 H ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene taxon:9606 20260519 ClinVar RGD 1313339 ACAP1 HP:0002861 RGD:8554872 IAGP RGD:713361337 H ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene taxon:9606 20260519 ClinVar RGD 1313339 ACAP1 HP:0004808 RGD:8554872 IAGP RGD:713710561 H ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene taxon:9606 20260519 ClinVar RGD 1313339 ACAP1 HP:0100242 RGD:8554872 IAGP RGD:713361036 H ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene taxon:9606 20260519 ClinVar RGD 1313339 ACAP1 HP:0100242 RGD:8554872 IAGP RGD:714266416 H ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene taxon:9606 20260519 ClinVar RGD 1313339 ACAP1 HP:0100522 RGD:8554872 IAGP RGD:713361197 H ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene taxon:9606 20260519 ClinVar RGD 1313339 ACAP1 HP:0100526 RGD:8554872 IAGP RGD:713360620 H ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0001402 RGD:8554872 IAGP RGD:713466458 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0004808 RGD:8554872 IAGP RGD:714163962 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0012126 RGD:8554872 IAGP RGD:713466458 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0012126 RGD:8554872 IAGP RGD:713784101 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0012126 RGD:8554872 IAGP RGD:714163962 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0100242 RGD:8554872 IAGP RGD:713466458 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0100242 RGD:8554872 IAGP RGD:713784122 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0100242 RGD:8554872 IAGP RGD:713896572 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0100242 RGD:8554872 IAGP RGD:713896599 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0100242 RGD:8554872 IAGP RGD:714163962 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0100522 RGD:8554872 IAGP RGD:713466458 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0100522 RGD:8554872 IAGP RGD:713784122 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0100522 RGD:8554872 IAGP RGD:713896585 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0100526 RGD:8554872 IAGP RGD:713466458 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0100526 RGD:8554872 IAGP RGD:713784101 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0100526 RGD:8554872 IAGP RGD:713784122 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0100526 RGD:8554872 IAGP RGD:713896545 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0100526 RGD:8554872 IAGP RGD:713896615 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313342 FAM114A2 HP:0100526 RGD:8554872 IAGP RGD:714163962 H family with sequence similarity 114 member A2 gene taxon:9606 20260519 ClinVar RGD 1313344 MAPKAP1 HP:0004808 RGD:8554872 IAGP RGD:713505881 H MAPK associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313344 MAPKAP1 HP:0006770 RGD:8554872 IAGP RGD:713503573 H MAPK associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313344 MAPKAP1 HP:0006770 RGD:8554872 IAGP RGD:713503724 H MAPK associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313344 MAPKAP1 HP:0006770 RGD:8554872 IAGP RGD:713503744 H MAPK associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313344 MAPKAP1 HP:0006770 RGD:8554872 IAGP RGD:713503811 H MAPK associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313344 MAPKAP1 HP:0012126 RGD:8554872 IAGP RGD:713717761 H MAPK associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313344 MAPKAP1 HP:0012126 RGD:8554872 IAGP RGD:713717775 H MAPK associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313344 MAPKAP1 HP:0012126 RGD:8554872 IAGP RGD:713717789 H MAPK associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313344 MAPKAP1 HP:0012126 RGD:8554872 IAGP RGD:713717806 H MAPK associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313344 MAPKAP1 HP:0100522 RGD:8554872 IAGP RGD:713503447 H MAPK associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0001402 RGD:8554872 IAGP RGD:714011084 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0001402 RGD:8554872 IAGP RGD:714079920 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0001402 RGD:8554872 IAGP RGD:714157854 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0002861 RGD:8554872 IAGP RGD:713735876 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0002861 RGD:8554872 IAGP RGD:714157854 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0003003 RGD:8554872 IAGP RGD:713444216 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0003003 RGD:8554872 IAGP RGD:714011084 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0004808 RGD:8554872 IAGP RGD:714155081 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0004808 RGD:8554872 IAGP RGD:714155093 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0006770 RGD:8554872 IAGP RGD:713737421 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0007716 RGD:8554872 IAGP RGD:714011084 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0007716 RGD:8554872 IAGP RGD:714011664 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0008209 PMID:25741868|RGD:8554872 IAGP RGD:14399872 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20210323 ClinVar RGD 1313346 CROCC HP:0008209 PMID:25741868|RGD:8554872 IAGP RGD:14399873 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20210323 ClinVar RGD 1313346 CROCC HP:0012126 RGD:8554872 IAGP RGD:713444295 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0012126 RGD:8554872 IAGP RGD:713558259 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0030153 RGD:8554872 IAGP RGD:713735333 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0030153 RGD:8554872 IAGP RGD:713737762 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0030153 RGD:8554872 IAGP RGD:714011084 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0100242 RGD:8554872 IAGP RGD:713558492 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0100242 RGD:8554872 IAGP RGD:713733041 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0100242 RGD:8554872 IAGP RGD:713736689 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0100242 RGD:8554872 IAGP RGD:713737781 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0100242 RGD:8554872 IAGP RGD:713738825 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0100242 RGD:8554872 IAGP RGD:713739694 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0100242 RGD:8554872 IAGP RGD:714011664 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0100522 RGD:8554872 IAGP RGD:713736974 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0100522 RGD:8554872 IAGP RGD:713739807 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0100522 RGD:8554872 IAGP RGD:714011084 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0100522 RGD:8554872 IAGP RGD:714155093 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0100526 RGD:8554872 IAGP RGD:714011664 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0100526 RGD:8554872 IAGP RGD:714155093 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0100615 RGD:8554872 IAGP RGD:714011664 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313346 CROCC HP:0100615 RGD:8554872 IAGP RGD:714155182 H ciliary rootlet coiled-coil, rootletin gene taxon:9606 20260519 ClinVar RGD 1313348 HS2ST1 HP:0000007 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20260209 HPO RGD 1313348 HS2ST1 HP:0000028 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000072 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000122 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000154 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000158 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000176 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000219 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000278 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000280 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20260209 HPO RGD 1313348 HS2ST1 HP:0000286 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20260209 HPO RGD 1313348 HS2ST1 HP:0000307 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000316 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000341 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000358 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000369 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000407 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000431 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000455 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000470 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20260209 HPO RGD 1313348 HS2ST1 HP:0000582 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000627 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000629 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000691 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0000750 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20260209 HPO RGD 1313348 HS2ST1 HP:0000767 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20260209 HPO RGD 1313348 HS2ST1 HP:0001134 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0001249 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20260209 HPO RGD 1313348 HS2ST1 HP:0001252 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20260209 HPO RGD 1313348 HS2ST1 HP:0001263 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20260209 HPO RGD 1313348 HS2ST1 HP:0001270 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0001274 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0001276 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0001402 RGD:8554872 IAGP RGD:713742116 H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313348 HS2ST1 HP:0001562 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0002002 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0002079 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0002188 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0002558 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0002650 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20251023 HPO RGD 1313348 HS2ST1 HP:0002808 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0002857 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20251023 HPO RGD 1313348 HS2ST1 HP:0002987 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0003090 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0003273 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0003577 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0005306 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0006380 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0007676 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0008873 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0009836 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0009890 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0009899 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0009907 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0010186 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0010282 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0010958 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0011232 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0011927 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0011968 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0012450 MIM:619194|PMID:33159882|RGD:8699517 IAGP H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20250912 HPO RGD 1313348 HS2ST1 HP:0030359 RGD:8554872 IAGP RGD:713725596 H heparan sulfate 2-O-sulfotransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0000007 MIM:616198|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0000496 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0000504 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0000505 MIM:616198|ORPHA:444013|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0000707 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0000961 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0001249 RGD:8554872 IAGP RGD:40888382 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0001250 MIM:616198|ORPHA:444013|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0001250 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151876346 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0001250 RGD:8554872 IAGP RGD:40888382 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0001252 MIM:616198|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0001256 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0001263 MIM:616198|ORPHA:444013|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0001263 RGD:8554872 IAGP RGD:40888382 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0001298 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0001433 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0001508 MIM:616198|ORPHA:444013|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0001511 MIM:616198|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0001635 MIM:616198|ORPHA:444013|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0001639 MIM:616198|ORPHA:444013|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0001639 PMID:25434004|PMID:25741868|PMID:30426380|PMID:34276756|PMID:35413567|RGD:8554872 IAGP RGD:155688600 H GTP binding protein 3, mitochondrial gene taxon:9606 20221206 ClinVar RGD 1313350 GTPBP3 HP:0001639 PMID:25434004|PMID:25741868|PMID:30426380|PMID:34276756|PMID:35413567|RGD:8554872 IAGP RGD:155688608 H GTP binding protein 3, mitochondrial gene taxon:9606 20221206 ClinVar RGD 1313350 GTPBP3 HP:0001644 MIM:616198|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0001667 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0001712 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0001716 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0001903 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0001928 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0001943 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0002151 MIM:616198|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0002151 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0002415 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0002878 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0002904 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0002910 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0003003 PMID:28492532|RGD:8554872 IAGP RGD:714081680 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0003115 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0003128 MIM:616198|ORPHA:444013|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0003388 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0003577 MIM:616198|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0003593 MIM:616198|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0003621 MIM:616198|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0003623 MIM:616198|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0003688 MIM:616198|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0008347 MIM:616198|ORPHA:444013|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0008872 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0008947 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0010307 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0011443 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0011463 MIM:616198|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0011675 MIM:616198|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0011675 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0011804 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0011923 MIM:616198|ORPHA:444013|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0011968 MIM:616198|PMID:25434004|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20250912 HPO RGD 1313350 GTPBP3 HP:0012126 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150422122 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0012126 PMID:28492532|RGD:8554872 IAGP RGD:15125267 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0012666 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0012696 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0012747 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0012751 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0012758 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151876346 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:329954678 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0012763 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0100022 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0100526 RGD:8554872 IAGP RGD:713893433 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0100543 ORPHA:444013|RGD:8699517 IAGP H GTP binding protein 3, mitochondrial gene taxon:9606 20230821 HPO RGD 1313350 GTPBP3 HP:0100543 PMID:28492532|RGD:8554872 IAGP RGD:13531953 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313350 GTPBP3 HP:0410009 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903717 H GTP binding protein 3, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0000007 MIM:615348|PMID:23746549|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20250912 HPO RGD 1313352 KLHL40 HP:0000028 PMID:16199547|PMID:23746549|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127286094 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0000028 PMID:25741868|RGD:8554872 IAGP RGD:150556976 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0000047 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0000054 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0000175 PMID:25741868|RGD:8554872 IAGP RGD:21074986 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0000239 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0000239 PMID:16199547|PMID:23746549|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127286094 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:150556976 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0000271 PMID:16199547|PMID:23746549|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127286094 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0000298 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0000347 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20260209 HPO RGD 1313352 KLHL40 HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:150556976 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0000369 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0000470 PMID:16199547|PMID:23746549|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127286094 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0000494 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0000496 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12900553 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0000508 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20260209 HPO RGD 1313352 KLHL40 HP:0000545 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12900553 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0000597 MIM:615348|PMID:23746549|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20250912 HPO RGD 1313352 KLHL40 HP:0000602 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0000739 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12900553 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:150556976 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0000765 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0000775 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0000883 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0001181 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:150556976 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0001252 PMID:16199547|PMID:23746549|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127286094 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:21074986 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:21074986 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0001270 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0001284 PMID:16199547|PMID:23746549|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127286094 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0001288 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20260209 HPO RGD 1313352 KLHL40 HP:0001290 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:150556976 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0001319 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20260209 HPO RGD 1313352 KLHL40 HP:0001324 MIM:615348|PMID:23746549|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20250912 HPO RGD 1313352 KLHL40 HP:0001324 PMID:25741868|RGD:8554872 IAGP RGD:150556976 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0001337 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20260209 HPO RGD 1313352 KLHL40 HP:0001349 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0001371 MIM:615348|ORPHA:171430|PMID:23746549|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20250912 HPO RGD 1313352 KLHL40 HP:0001371 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0001371 PMID:25741868|RGD:8554872 IAGP RGD:150556976 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0001488 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0001522 MIM:615348|PMID:23746549|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20250912 HPO RGD 1313352 KLHL40 HP:0001558 MIM:615348|ORPHA:171430|PMID:23746549|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20250912 HPO RGD 1313352 KLHL40 HP:0001558 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0001561 MIM:615348|ORPHA:171430|PMID:23746549|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20250912 HPO RGD 1313352 KLHL40 HP:0001561 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0001622 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0001623 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0001631 PMID:25741868|RGD:8554872 IAGP RGD:21074986 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0001640 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20260209 HPO RGD 1313352 KLHL40 HP:0001644 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20260209 HPO RGD 1313352 KLHL40 HP:0001695 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20260209 HPO RGD 1313352 KLHL40 HP:0001762 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20260209 HPO RGD 1313352 KLHL40 HP:0001762 PMID:16199547|PMID:23746549|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127286094 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0001762 PMID:25741868|RGD:8554872 IAGP RGD:150556976 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0001776 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0001787 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12900553 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0001838 PMID:23746549|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14711265 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0001903 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0001989 MIM:615348|PMID:23746549|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20250912 HPO RGD 1313352 KLHL40 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:150556976 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0002007 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0002015 MIM:615348|ORPHA:171430|PMID:23746549|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20250912 HPO RGD 1313352 KLHL40 HP:0002058 PMID:25741868|RGD:8554872 IAGP RGD:21074986 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0002089 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0002098 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20260209 HPO RGD 1313352 KLHL40 HP:0002098 PMID:16199547|PMID:23746549|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127286094 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0002099 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12900553 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0002194 PMID:25741868|RGD:8554872 IAGP RGD:150556976 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0002375 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0002527 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20260209 HPO RGD 1313352 KLHL40 HP:0002578 PMID:25741868|RGD:8554872 IAGP RGD:150556976 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0002650 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20260209 HPO RGD 1313352 KLHL40 HP:0002756 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0002791 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0002804 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0002804 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0002804 PMID:25741868|RGD:8554872 IAGP RGD:150556976 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0002828 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0002878 MIM:615348|ORPHA:171430|PMID:23746549|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20250912 HPO RGD 1313352 KLHL40 HP:0003121 PMID:23746549|PMID:25721947|PMID:25741868|PMID:28492532|PMID:34930662|RGD:8554872 IAGP RGD:14978188 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0003202 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0003202 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0003225 PMID:25741868|RGD:8554872 IAGP RGD:21074986 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0003327 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0003560 PMID:25741868|RGD:8554872 IAGP RGD:150556976 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0003715 MIM:615348|PMID:23746549|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20250912 HPO RGD 1313352 KLHL40 HP:0003798 MIM:615348|ORPHA:171430|PMID:23746549|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20250912 HPO RGD 1313352 KLHL40 HP:0003803 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0005855 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0006829 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0007514 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0008872 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20260209 HPO RGD 1313352 KLHL40 HP:0009025 ORPHA:171430|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20230821 HPO RGD 1313352 KLHL40 HP:0010628 MIM:615348|ORPHA:171430|PMID:23746549|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20250912 HPO RGD 1313352 KLHL40 HP:0010804 PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254|RGD:8554872 IAGP RGD:26902262 H kelch like family member 40 gene taxon:9606 20260602 ClinVar RGD 1313352 KLHL40 HP:0010862 PMID:25741868|RGD:8554872 IAGP RGD:150556976 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0011471 MIM:615348|PMID:23746549|RGD:8699517 IAGP H kelch like family member 40 gene taxon:9606 20250912 HPO RGD 1313352 KLHL40 HP:0011804 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12900553 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313352 KLHL40 HP:0040288 PMID:25741868|RGD:8554872 IAGP RGD:21074986 H kelch like family member 40 gene taxon:9606 20260519 ClinVar RGD 1313354 NKX3-1 HP:0011797 RGD:8554872 IAGP RGD:713493122 H NK3 homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313358 SOX17 HP:0000006 MIM:613674|MIM:621248|PMID:20960469|PMID:30044643|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0000010 MIM:613674|PMID:20960469|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20250912 HPO RGD 1313358 SOX17 HP:0000072 MIM:613674|PMID:20960469|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20250912 HPO RGD 1313358 SOX17 HP:0000074 MIM:613674|PMID:20960469|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20250912 HPO RGD 1313358 SOX17 HP:0000076 PMID:25741868|RGD:8554872 IAGP RGD:13529225 H SRY-box transcription factor 17 gene taxon:9606 20210323 ClinVar RGD 1313358 SOX17 HP:0000126 MIM:613674|PMID:20960469|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20250912 HPO RGD 1313358 SOX17 HP:0000421 MIM:621248|PMID:35618278|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0000717 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0000717 RGD:8554872 IAGP RGD:151663625 H SRY-box transcription factor 17 gene taxon:9606 20260519 ClinVar RGD 1313358 SOX17 HP:0000750 RGD:8554872 IAGP RGD:151663625 H SRY-box transcription factor 17 gene taxon:9606 20260519 ClinVar RGD 1313358 SOX17 HP:0000821 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0000961 MIM:621248|PMID:37895315|PMID:38655005|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0001263 RGD:8554872 IAGP RGD:151663625 H SRY-box transcription factor 17 gene taxon:9606 20260519 ClinVar RGD 1313358 SOX17 HP:0001297 MIM:621248|PMID:35618278|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0001508 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0001561 MIM:613674|PMID:20960469|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20250912 HPO RGD 1313358 SOX17 HP:0001629 MIM:621248|PMID:35618278|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0001631 MIM:621248|PMID:30044643|PMID:33794346|PMID:33952808|PMID:35618278|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0001635 MIM:621248|PMID:35618278|PMID:37895315|PMID:38655005|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0001642 MIM:621248|PMID:33794346|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0001643 MIM:621248|PMID:33794346|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0001643 RGD:329853328|PMID:33794346 IAGP H SRY-box transcription factor 17 gene taxon:9606 20230614 RGD RGD 1313358 SOX17 HP:0001655 MIM:621248|PMID:30044643|PMID:35618278|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0001667 MIM:621248|PMID:33952808|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0001695 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0001909 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0002092 MIM:621248|PMID:30044643|PMID:33952808|PMID:35618278|PMID:37895315|PMID:38655005|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0002092 PMID:25741868|RGD:8554872 IAGP RGD:713965503 H SRY-box transcription factor 17 gene taxon:9606 20260519 ClinVar RGD 1313358 SOX17 HP:0002092 PMID:25741868|RGD:8554872 IAGP RGD:736711198 H SRY-box transcription factor 17 gene taxon:9606 20260707 ClinVar RGD 1313358 SOX17 HP:0002092 RGD:329853313|PMID:30029678 IAGP H SRY-box transcription factor 17 gene taxon:9606 20230614 RGD RGD 1313358 SOX17 HP:0002092 RGD:329853326|PMID:33952808 IAGP H SRY-box transcription factor 17 gene taxon:9606 20230614 RGD RGD 1313358 SOX17 HP:0002092 RGD:8554872 IAGP RGD:152088435 H SRY-box transcription factor 17 gene taxon:9606 20220510 ClinVar RGD 1313358 SOX17 HP:0002105 MIM:621248|PMID:35618278|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0002870 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0002875 MIM:621248|PMID:33952808|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0003040 PMID:25741868|RGD:8554872 IAGP RGD:736711198 H SRY-box transcription factor 17 gene taxon:9606 20260707 ClinVar RGD 1313358 SOX17 HP:0003493 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0003593 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0003596 MIM:621248|PMID:30044643|PMID:35618278|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0003621 MIM:621248|PMID:35618278|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0003623 MIM:621248|PMID:38655005|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0004890 RGD:329853313|PMID:30029678 IAGP H SRY-box transcription factor 17 gene taxon:9606 20230615 RGD RGD 1313358 SOX17 HP:0005110 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0005133 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0005317 MIM:621248|PMID:30044643|PMID:35618278|PMID:37895315|PMID:38655005|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0005317 RGD:329853326|PMID:33952808 IAGP H SRY-box transcription factor 17 gene taxon:9606 20230614 RGD RGD 1313358 SOX17 HP:0005681 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0006510 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0006530 MIM:621248|PMID:30044643|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0006673 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0010529 RGD:8554872 IAGP RGD:151663625 H SRY-box transcription factor 17 gene taxon:9606 20260519 ClinVar RGD 1313358 SOX17 HP:0011462 MIM:621248|PMID:30044643|PMID:35618278|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0011462 RGD:329853735|PMID:29650961 IAGP H SRY-box transcription factor 17 gene taxon:9606 20230615 RGD RGD 1313358 SOX17 HP:0011463 MIM:621248|PMID:30044643|PMID:35618278|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0011671 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0011712 MIM:621248|PMID:33952808|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0011950 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0011968 RGD:8554872 IAGP RGD:151663625 H SRY-box transcription factor 17 gene taxon:9606 20260519 ClinVar RGD 1313358 SOX17 HP:0012021 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0012378 MIM:621248|PMID:33952808|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0012418 MIM:621248|PMID:38655005|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0012450 MIM:613674|PMID:20960469|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20250912 HPO RGD 1313358 SOX17 HP:0012572 MIM:613674|PMID:20960469|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20250912 HPO RGD 1313358 SOX17 HP:0025169 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0030718 MIM:621248|PMID:33952808|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0030876 MIM:621248|PMID:33952808|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0030876 RGD:329853326|PMID:33952808 IAGP H SRY-box transcription factor 17 gene taxon:9606 20230614 RGD RGD 1313358 SOX17 HP:0031352 MIM:621248|PMID:33952808|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0031854 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0033390 MIM:621248|PMID:35618278|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0033423 MIM:621248|PMID:35618278|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0033424 MIM:621248|PMID:35618278|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0033567 MIM:621248|PMID:33952808|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0033737 MIM:613674|PMID:20960469|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20250912 HPO RGD 1313358 SOX17 HP:0033741 MIM:613674|PMID:20960469|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20250912 HPO RGD 1313358 SOX17 HP:0045051 MIM:621248|PMID:35618278|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0100724 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:0100749 MIM:621248|PMID:37895315|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 HP:6000313 MIM:621248|PMID:33952808|RGD:8699517 IAGP H SRY-box transcription factor 17 gene taxon:9606 20260423 HPO RGD 1313358 SOX17 no_association HP:0004944 RGD:329955568|PMID:31250579 IAGP H SRY-box transcription factor 17 gene taxon:9606 20230717 RGD RGD 1313358 SOX17 onset HP:0002092 RGD:329853735|PMID:29650961 IAGP H SRY-box transcription factor 17 gene taxon:9606 20230615 RGD RGD 1313358 SOX17 susceptibility HP:0002092 RGD:329955464|PMID:30527955 IAGP H SRY-box transcription factor 17 gene taxon:9606 20230712 RGD RGD 1313358 SOX17 susceptibility HP:0004944 RGD:329853325|PMID:29191544 IAGP H SRY-box transcription factor 17 gene taxon:9606 20230712 RGD RGD 1313358 SOX17 susceptibility HP:0004944 RGD:329853736|PMID:22961961 IAGP H SRY-box transcription factor 17 gene taxon:9606 20230712 RGD RGD 1313358 SOX17 susceptibility HP:0004944 RGD:329955463|PMID:31040677 IAGP H SRY-box transcription factor 17 gene taxon:9606 20230712 RGD RGD 1313358 SOX17 susceptibility HP:0004944 RGD:329955465|PMID:20364137 IAGP H SRY-box transcription factor 17 gene taxon:9606 20230712 RGD RGD 1313358 SOX17 susceptibility HP:0004944 RGD:329955569|PMID:18997786 IAGP H SRY-box transcription factor 17 gene taxon:9606 20230717 RGD RGD 1313360 NCBP2 HP:0006770 RGD:8554872 IAGP RGD:713933594 H nuclear cap binding protein subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313360 NCBP2 HP:0011797 RGD:8554872 IAGP RGD:713566409 H nuclear cap binding protein subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313360 NCBP2 HP:0012126 RGD:8554872 IAGP RGD:713933594 H nuclear cap binding protein subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313360 NCBP2 HP:0030153 RGD:8554872 IAGP RGD:713933594 H nuclear cap binding protein subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313360 NCBP2 HP:0100526 RGD:8554872 IAGP RGD:713933594 H nuclear cap binding protein subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313362 EIF6 HP:0001402 RGD:8554872 IAGP RGD:713836366 H eukaryotic translation initiation factor 6 gene taxon:9606 20260519 ClinVar RGD 1313362 EIF6 HP:0001402 RGD:8554872 IAGP RGD:713962732 H eukaryotic translation initiation factor 6 gene taxon:9606 20260519 ClinVar RGD 1313362 EIF6 HP:0002861 RGD:8554872 IAGP RGD:713961980 H eukaryotic translation initiation factor 6 gene taxon:9606 20260519 ClinVar RGD 1313362 EIF6 HP:0002861 RGD:8554872 IAGP RGD:713961988 H eukaryotic translation initiation factor 6 gene taxon:9606 20260519 ClinVar RGD 1313362 EIF6 HP:0002861 RGD:8554872 IAGP RGD:713962015 H eukaryotic translation initiation factor 6 gene taxon:9606 20260519 ClinVar RGD 1313362 EIF6 HP:0012092 PMID:25741868|PMID:41620567|RGD:8554872 IAGP RGD:713444557 H eukaryotic translation initiation factor 6 gene taxon:9606 20260519 ClinVar RGD 1313362 EIF6 HP:0012126 RGD:8554872 IAGP RGD:713776324 H eukaryotic translation initiation factor 6 gene taxon:9606 20260519 ClinVar RGD 1313362 EIF6 HP:0012126 RGD:8554872 IAGP RGD:713776337 H eukaryotic translation initiation factor 6 gene taxon:9606 20260519 ClinVar RGD 1313362 EIF6 HP:0012126 RGD:8554872 IAGP RGD:713776349 H eukaryotic translation initiation factor 6 gene taxon:9606 20260519 ClinVar RGD 1313364 B3GNT8 HP:0012126 RGD:8554872 IAGP RGD:714273226 H UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene taxon:9606 20260519 ClinVar RGD 1313365 GALK1 HP:0000007 MIM:230200|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0000252 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0000407 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0000518 MIM:230200|ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20250416 HPO RGD 1313365 GALK1 HP:0000518 PMID:10570908|PMID:10790206|PMID:20405025|PMID:25741868|PMID:28492532|PMID:7670469|RGD:8554872 IAGP RGD:13791813 H galactokinase 1 gene taxon:9606 20260519 ClinVar RGD 1313365 GALK1 HP:0000618 PMID:10570908|PMID:10790206|PMID:20405025|PMID:25741868|PMID:28492532|PMID:7670469|RGD:8554872 IAGP RGD:13791813 H galactokinase 1 gene taxon:9606 20260519 ClinVar RGD 1313365 GALK1 HP:0000815 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0000842 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0001249 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0001250 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0001270 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0001402 RGD:8554872 IAGP RGD:713359594 H galactokinase 1 gene taxon:9606 20260519 ClinVar RGD 1313365 GALK1 HP:0001433 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0001508 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0001518 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0001622 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0001943 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0002240 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0002361 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0002516 MIM:230200|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0002861 RGD:8554872 IAGP RGD:713368771 H galactokinase 1 gene taxon:9606 20260519 ClinVar RGD 1313365 GALK1 HP:0002861 RGD:8554872 IAGP RGD:713368789 H galactokinase 1 gene taxon:9606 20260519 ClinVar RGD 1313365 GALK1 HP:0003124 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0004431 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0006579 MIM:230200|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0007875 PMID:10570908|PMID:10790206|PMID:20405025|PMID:25741868|PMID:28492532|PMID:7670469|RGD:8554872 IAGP RGD:13791813 H galactokinase 1 gene taxon:9606 20260519 ClinVar RGD 1313365 GALK1 HP:0008209 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0011098 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0011968 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0012023 MIM:230200|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0012024 MIM:230200|ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20250416 HPO RGD 1313365 GALK1 HP:0012379 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0012768 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0100018 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0100242 PMID:28492532|RGD:8554872 IAGP RGD:15111759 H galactokinase 1 gene taxon:9606 20260519 ClinVar RGD 1313365 GALK1 HP:0100526 RGD:8554872 IAGP RGD:714185247 H galactokinase 1 gene taxon:9606 20260519 ClinVar RGD 1313365 GALK1 HP:0410061 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:0410062 ORPHA:79237|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20230821 HPO RGD 1313365 GALK1 HP:6000723 MIM:230200|PMID:7670469|RGD:8699517 IAGP H galactokinase 1 gene taxon:9606 20250912 HPO RGD 1313365 GALK1 HP:6000723 PMID:10521295|PMID:10790206|PMID:11978883|PMID:11978884|PMID:12647253|PMID:12694189|PMID:21290184|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8596858 H galactokinase 1 gene taxon:9606 20260602 ClinVar RGD 1313366 SRP68 HP:0000007 MIM:620534|PMID:32273475|RGD:8699517 IAGP H signal recognition particle 68 gene taxon:9606 20250912 HPO RGD 1313366 SRP68 HP:0001402 RGD:8554872 IAGP RGD:713359648 H signal recognition particle 68 gene taxon:9606 20260519 ClinVar RGD 1313366 SRP68 HP:0001873 MIM:620534|PMID:32273475|RGD:8699517 IAGP H signal recognition particle 68 gene taxon:9606 20250912 HPO RGD 1313366 SRP68 HP:0001875 MIM:620534|PMID:32273475|RGD:8699517 IAGP H signal recognition particle 68 gene taxon:9606 20250912 HPO RGD 1313366 SRP68 HP:0001903 MIM:620534|PMID:32273475|RGD:8699517 IAGP H signal recognition particle 68 gene taxon:9606 20250912 HPO RGD 1313366 SRP68 HP:0003593 MIM:620534|PMID:32273475|RGD:8699517 IAGP H signal recognition particle 68 gene taxon:9606 20250912 HPO RGD 1313366 SRP68 HP:0004808 RGD:8554872 IAGP RGD:713714564 H signal recognition particle 68 gene taxon:9606 20260519 ClinVar RGD 1313366 SRP68 HP:0004808 RGD:8554872 IAGP RGD:714186667 H signal recognition particle 68 gene taxon:9606 20260519 ClinVar RGD 1313366 SRP68 HP:0006725 RGD:8554872 IAGP RGD:713372452 H signal recognition particle 68 gene taxon:9606 20260519 ClinVar RGD 1313366 SRP68 HP:0012126 RGD:8554872 IAGP RGD:714266993 H signal recognition particle 68 gene taxon:9606 20260519 ClinVar RGD 1313366 SRP68 HP:0012136 MIM:620534|PMID:32273475|RGD:8699517 IAGP H signal recognition particle 68 gene taxon:9606 20250912 HPO RGD 1313366 SRP68 HP:0012311 MIM:620534|PMID:32273475|RGD:8699517 IAGP H signal recognition particle 68 gene taxon:9606 20250912 HPO RGD 1313366 SRP68 HP:0030153 RGD:8554872 IAGP RGD:714186654 H signal recognition particle 68 gene taxon:9606 20260519 ClinVar RGD 1313366 SRP68 HP:0033150 MIM:620534|PMID:32273475|RGD:8699517 IAGP H signal recognition particle 68 gene taxon:9606 20250912 HPO RGD 1313366 SRP68 HP:0033607 MIM:620534|PMID:32273475|RGD:8699517 IAGP H signal recognition particle 68 gene taxon:9606 20250912 HPO RGD 1313366 SRP68 HP:0100242 RGD:8554872 IAGP RGD:713372333 H signal recognition particle 68 gene taxon:9606 20260519 ClinVar RGD 1313366 SRP68 HP:0100242 RGD:8554872 IAGP RGD:713372354 H signal recognition particle 68 gene taxon:9606 20260519 ClinVar RGD 1313366 SRP68 HP:0100242 RGD:8554872 IAGP RGD:714185284 H signal recognition particle 68 gene taxon:9606 20260519 ClinVar RGD 1313366 SRP68 HP:0100242 RGD:8554872 IAGP RGD:714267012 H signal recognition particle 68 gene taxon:9606 20260519 ClinVar RGD 1313368 BEST2 HP:0006770 RGD:8554872 IAGP RGD:713880065 H bestrophin 2 gene taxon:9606 20260519 ClinVar RGD 1313368 BEST2 HP:0012126 RGD:8554872 IAGP RGD:714270664 H bestrophin 2 gene taxon:9606 20260519 ClinVar RGD 1313370 MTMR6 HP:0002861 RGD:8554872 IAGP RGD:713862726 H myotubularin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1313370 MTMR6 HP:0002861 RGD:8554872 IAGP RGD:713862770 H myotubularin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1313370 MTMR6 HP:0002861 RGD:8554872 IAGP RGD:713862803 H myotubularin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1313370 MTMR6 HP:0004808 RGD:8554872 IAGP RGD:713655040 H myotubularin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1313370 MTMR6 HP:0004808 RGD:8554872 IAGP RGD:713659782 H myotubularin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1313370 MTMR6 HP:0012126 RGD:8554872 IAGP RGD:713802108 H myotubularin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1313370 MTMR6 HP:0012126 RGD:8554872 IAGP RGD:713802126 H myotubularin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1313370 MTMR6 HP:0030153 RGD:8554872 IAGP RGD:713780706 H myotubularin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1313370 MTMR6 HP:0100242 RGD:8554872 IAGP RGD:713655040 H myotubularin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1313370 MTMR6 HP:0100522 RGD:8554872 IAGP RGD:713655040 H myotubularin related protein 6 gene taxon:9606 20260519 ClinVar RGD 1313370 MTMR6 HP:0100522 RGD:8554872 IAGP RGD:713802126 H myotubularin related protein 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0000006 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0000011 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0000011 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0000219 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0000316 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0000324 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0000343 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0000364 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0000486 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155643298 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0000496 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0000504 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0000508 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0000565 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0000639 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0000646 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0000763 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0000951 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0000975 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0001093 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0001137 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0001250 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0001252 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0001263 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0001263 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155643298 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0001263 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0001270 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0001270 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0001290 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0001290 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0001308 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0001513 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155643298 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0002086 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0002093 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0002167 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0002180 PMID:25741868|PMID:33217309|RGD:8554872 IAGP RGD:714008900 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0002353 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0002353 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0002418 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0002553 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0002714 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0003002 PMID:25741868|PMID:33217309|RGD:8554872 IAGP RGD:713807574 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0003557 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0004370 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0004370 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0004808 RGD:8554872 IAGP RGD:713409775 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0004808 RGD:8554872 IAGP RGD:713410237 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0004808 RGD:8554872 IAGP RGD:713414314 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0004887 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0006770 RGD:8554872 IAGP RGD:713532411 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0006770 RGD:8554872 IAGP RGD:713723463 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0006844 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0007110 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0008936 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0009800 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0009886 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0010602 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0010852 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155643298 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0010876 RGD:14696737|PMID:25452597 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20190723 RGD RGD 1313372 CLCN6 HP:0011344 PMID:25741868|PMID:33217309|RGD:8554872 IAGP RGD:713807574 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0011471 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0011931 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0011968 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0012000 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155643298 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0012126 RGD:8554872 IAGP RGD:713612228 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0012126 RGD:8554872 IAGP RGD:713613359 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0012795 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0030680 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0031185 RGD:14696736|PMID:21273288 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20190723 RGD RGD 1313372 CLCN6 HP:0031709 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0100022 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0100022 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0100242 RGD:8554872 IAGP RGD:713568768 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0100242 RGD:8554872 IAGP RGD:713722527 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0100242 RGD:8554872 IAGP RGD:713902294 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0100522 RGD:8554872 IAGP RGD:713409775 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0100522 RGD:8554872 IAGP RGD:713902294 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0100526 RGD:8554872 IAGP RGD:713414403 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0100526 RGD:8554872 IAGP RGD:714157423 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0100526 RGD:8554872 IAGP RGD:714160314 H Cl-/H+ antiporter 6 gene taxon:9606 20260519 ClinVar RGD 1313372 CLCN6 HP:0100622 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0100704 MIM:619173|PMID:33217309|RGD:8699517 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20250912 HPO RGD 1313372 CLCN6 HP:0200048 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0200101 PMID:25741868|PMID:33217309|PMID:38095064|RGD:8554872 IAGP RGD:41407563 H Cl-/H+ antiporter 6 gene taxon:9606 20260707 ClinVar RGD 1313372 CLCN6 HP:0500104 RGD:11564753|PMID:26658788 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20190723 RGD RGD 1313372 CLCN6 HP:0500105 RGD:11564753|PMID:26658788 IAGP H Cl-/H+ antiporter 6 gene taxon:9606 20190723 RGD RGD 1313374 RBL1 HP:0001402 RGD:8554872 IAGP RGD:713368964 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313374 RBL1 HP:0001402 RGD:8554872 IAGP RGD:713735097 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313374 RBL1 HP:0002861 RGD:8554872 IAGP RGD:713963328 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313374 RBL1 HP:0002861 RGD:8554872 IAGP RGD:713963336 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313374 RBL1 HP:0002861 RGD:8554872 IAGP RGD:713963352 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313374 RBL1 HP:0004808 RGD:8554872 IAGP RGD:713832142 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313374 RBL1 HP:0004808 RGD:8554872 IAGP RGD:713832158 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313374 RBL1 HP:0004808 RGD:8554872 IAGP RGD:713836573 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313374 RBL1 HP:0004808 RGD:8554872 IAGP RGD:713962759 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313374 RBL1 HP:0004808 RGD:8554872 IAGP RGD:713962766 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313374 RBL1 HP:0011797 RGD:8554872 IAGP RGD:713444012 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313374 RBL1 HP:0011797 RGD:8554872 IAGP RGD:713962752 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313374 RBL1 HP:0012126 RGD:8554872 IAGP RGD:713776890 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313374 RBL1 HP:0030359 RGD:8554872 IAGP RGD:713963320 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313374 RBL1 HP:0100526 RGD:8554872 IAGP RGD:713963332 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313374 RBL1 HP:0100526 RGD:8554872 IAGP RGD:713963342 H RB transcriptional corepressor like 1 gene taxon:9606 20260519 ClinVar RGD 1313376 RELT HP:0000007 MIM:618386|PMID:30506946|RGD:8699517 IAGP H RELT TNF receptor gene taxon:9606 20250912 HPO RGD 1313376 RELT HP:0000705 MIM:618386|PMID:30506946|RGD:8699517 IAGP H RELT TNF receptor gene taxon:9606 20250912 HPO RGD 1313376 RELT HP:0000705 PMID:25741868|PMID:30506946|PMID:32052416|RGD:8554872 IAGP RGD:401962848 H RELT TNF receptor gene taxon:9606 20240202 ClinVar RGD 1313376 RELT HP:0000705 PMID:25741868|PMID:30506946|PMID:32052416|RGD:8554872 IAGP RGD:401962855 H RELT TNF receptor gene taxon:9606 20240202 ClinVar RGD 1313376 RELT HP:0001402 RGD:8554872 IAGP RGD:713350355 H RELT TNF receptor gene taxon:9606 20260519 ClinVar RGD 1313376 RELT HP:0004808 RGD:8554872 IAGP RGD:714103031 H RELT TNF receptor gene taxon:9606 20260519 ClinVar RGD 1313376 RELT HP:0006286 MIM:618386|PMID:30506946|RGD:8699517 IAGP H RELT TNF receptor gene taxon:9606 20250912 HPO RGD 1313376 RELT HP:0009102 MIM:618386|RGD:8699517 IAGP H RELT TNF receptor gene taxon:9606 20230821 HPO RGD 1313376 RELT HP:0011084 MIM:618386|PMID:30506946|RGD:8699517 IAGP H RELT TNF receptor gene taxon:9606 20250912 HPO RGD 1313376 RELT HP:0012126 RGD:8554872 IAGP RGD:713981704 H RELT TNF receptor gene taxon:9606 20260519 ClinVar RGD 1313376 RELT HP:0012126 RGD:8554872 IAGP RGD:714026122 H RELT TNF receptor gene taxon:9606 20260519 ClinVar RGD 1313376 RELT HP:0030153 RGD:8554872 IAGP RGD:713405150 H RELT TNF receptor gene taxon:9606 20260519 ClinVar RGD 1313378 UBE2C HP:0003003 RGD:8554872 IAGP RGD:713967374 H ubiquitin conjugating enzyme E2 C gene taxon:9606 20260519 ClinVar RGD 1313378 UBE2C HP:0004808 RGD:8554872 IAGP RGD:713964475 H ubiquitin conjugating enzyme E2 C gene taxon:9606 20260519 ClinVar RGD 1313378 UBE2C HP:0004808 RGD:8554872 IAGP RGD:713968482 H ubiquitin conjugating enzyme E2 C gene taxon:9606 20260519 ClinVar RGD 1313378 UBE2C HP:0006770 RGD:8554872 IAGP RGD:713967291 H ubiquitin conjugating enzyme E2 C gene taxon:9606 20260519 ClinVar RGD 1313378 UBE2C HP:0006770 RGD:8554872 IAGP RGD:713967297 H ubiquitin conjugating enzyme E2 C gene taxon:9606 20260519 ClinVar RGD 1313378 UBE2C HP:0006770 RGD:8554872 IAGP RGD:713967304 H ubiquitin conjugating enzyme E2 C gene taxon:9606 20260519 ClinVar RGD 1313378 UBE2C HP:0006770 RGD:8554872 IAGP RGD:713967312 H ubiquitin conjugating enzyme E2 C gene taxon:9606 20260519 ClinVar RGD 1313378 UBE2C HP:0012126 RGD:8554872 IAGP RGD:713778564 H ubiquitin conjugating enzyme E2 C gene taxon:9606 20260519 ClinVar RGD 1313378 UBE2C HP:0012126 RGD:8554872 IAGP RGD:713778576 H ubiquitin conjugating enzyme E2 C gene taxon:9606 20260519 ClinVar RGD 1313378 UBE2C HP:0012126 RGD:8554872 IAGP RGD:713968482 H ubiquitin conjugating enzyme E2 C gene taxon:9606 20260519 ClinVar RGD 1313378 UBE2C HP:0100522 RGD:8554872 IAGP RGD:713967281 H ubiquitin conjugating enzyme E2 C gene taxon:9606 20260519 ClinVar RGD 1313378 UBE2C HP:0100526 RGD:8554872 IAGP RGD:713967364 H ubiquitin conjugating enzyme E2 C gene taxon:9606 20260519 ClinVar RGD 1313380 ARHGDIB HP:0003003 RGD:8554872 IAGP RGD:713687651 H Rho GDP dissociation inhibitor beta gene taxon:9606 20260519 ClinVar RGD 1313380 ARHGDIB HP:0030153 RGD:8554872 IAGP RGD:713623440 H Rho GDP dissociation inhibitor beta gene taxon:9606 20260707 ClinVar RGD 1313382 CPT1C HP:0000006 MIM:616282|PMID:25751282|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20250912 HPO RGD 1313382 CPT1C HP:0000012 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0000020 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0000726 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0000805 PMID:25741868|RGD:8554872 IAGP RGD:150458275 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313382 CPT1C HP:0001250 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0001254 PMID:25741868|RGD:8554872 IAGP RGD:150458275 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313382 CPT1C HP:0001258 MIM:616282|PMID:25751282|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20250912 HPO RGD 1313382 CPT1C HP:0001258 PMID:25741868|RGD:8554872 IAGP RGD:127234028 H carnitine palmitoyltransferase 1C gene taxon:9606 20210608 ClinVar RGD 1313382 CPT1C HP:0001258 PMID:25741868|RGD:8554872 IAGP RGD:127234030 H carnitine palmitoyltransferase 1C gene taxon:9606 20210608 ClinVar RGD 1313382 CPT1C HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:150458275 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313382 CPT1C HP:0001288 MIM:616282|ORPHA:444099|PMID:25751282|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20250912 HPO RGD 1313382 CPT1C HP:0001288 PMID:25741868|RGD:8554872 IAGP RGD:150458275 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313382 CPT1C HP:0001288 PMID:25741868|RGD:8554872 IAGP RGD:405270430 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313382 CPT1C HP:0001347 MIM:616282|ORPHA:444099|PMID:25751282|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20250912 HPO RGD 1313382 CPT1C HP:0001350 PMID:25741868|RGD:8554872 IAGP RGD:401799290 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313382 CPT1C HP:0001761 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0002061 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0002064 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0002066 PMID:25741868|RGD:8554872 IAGP RGD:39457036 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313382 CPT1C HP:0002166 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0002314 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0002317 PMID:25741868|RGD:8554872 IAGP RGD:150458275 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313382 CPT1C HP:0002321 PMID:25741868|RGD:8554872 IAGP RGD:39457036 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313382 CPT1C HP:0002359 PMID:25741868|RGD:8554872 IAGP RGD:150458275 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313382 CPT1C HP:0002861 RGD:8554872 IAGP RGD:713861738 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313382 CPT1C HP:0002861 RGD:8554872 IAGP RGD:713861769 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313382 CPT1C HP:0002921 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0003202 MIM:616282|PMID:25751282|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20250912 HPO RGD 1313382 CPT1C HP:0003457 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0003487 MIM:616282|ORPHA:444099|PMID:25751282|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20250912 HPO RGD 1313382 CPT1C HP:0003581 MIM:616282|PMID:25751282|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20250912 HPO RGD 1313382 CPT1C HP:0003677 MIM:616282|PMID:25751282|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20250912 HPO RGD 1313382 CPT1C HP:0003701 MIM:616282|PMID:25751282|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20250912 HPO RGD 1313382 CPT1C HP:0004372 PMID:25741868|RGD:8554872 IAGP RGD:150458275 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313382 CPT1C HP:0006725 RGD:8554872 IAGP RGD:713861861 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313382 CPT1C HP:0006886 MIM:616282|PMID:25751282|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20250912 HPO RGD 1313382 CPT1C HP:0007020 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0007199 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0008944 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0009053 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0012898 ORPHA:444099|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20230821 HPO RGD 1313382 CPT1C HP:0033127 PMID:25741868|RGD:8554872 IAGP RGD:401940303 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313382 CPT1C HP:0034397 MIM:616282|PMID:25751282|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20250912 HPO RGD 1313382 CPT1C HP:0034399 MIM:616282|PMID:25751282|RGD:8699517 IAGP H carnitine palmitoyltransferase 1C gene taxon:9606 20250912 HPO RGD 1313382 CPT1C HP:0100522 RGD:8554872 IAGP RGD:713794644 H carnitine palmitoyltransferase 1C gene taxon:9606 20260519 ClinVar RGD 1313391 IDH2 HP:0000006 MIM:613657|PMID:20847235|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20251023 HPO RGD 1313391 IDH2 HP:0000126 PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|RGD:8554872 IAGP RGD:8564421 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260602 ClinVar RGD 1313391 IDH2 HP:0000175 RGD:8554872 IAGP RGD:713724667 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260519 ClinVar RGD 1313391 IDH2 HP:0000175 RGD:8554872 IAGP RGD:713891325 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260519 ClinVar RGD 1313391 IDH2 HP:0000238 PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|RGD:8554872 IAGP RGD:8564421 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260602 ClinVar RGD 1313391 IDH2 HP:0000252 PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|RGD:8554872 IAGP RGD:8564421 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260602 ClinVar RGD 1313391 IDH2 HP:0000324 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20241212 HPO RGD 1313391 IDH2 HP:0000750 ORPHA:79315|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260209 HPO RGD 1313391 IDH2 HP:0000853 ORPHA:163634|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0000944 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0001028 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0001249 PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|RGD:8554872 IAGP RGD:8564421 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260602 ClinVar RGD 1313391 IDH2 HP:0001250 MIM:613657|ORPHA:79315|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260209 HPO RGD 1313391 IDH2 HP:0001250 PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|RGD:8554872 IAGP RGD:8564421 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260602 ClinVar RGD 1313391 IDH2 HP:0001252 MIM:613657|ORPHA:79315|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260209 HPO RGD 1313391 IDH2 HP:0001257 PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|RGD:8554872 IAGP RGD:8564421 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260602 ClinVar RGD 1313391 IDH2 HP:0001263 MIM:613657|ORPHA:79315|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260209 HPO RGD 1313391 IDH2 HP:0001274 PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|RGD:8554872 IAGP RGD:8564421 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260602 ClinVar RGD 1313391 IDH2 HP:0001298 ORPHA:79315|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260209 HPO RGD 1313391 IDH2 HP:0001387 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0001482 ORPHA:163634|ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20250416 HPO RGD 1313391 IDH2 HP:0001510 ORPHA:163634|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0001511 PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|RGD:8554872 IAGP RGD:8564421 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260602 ClinVar RGD 1313391 IDH2 HP:0001638 MIM:613657|ORPHA:79315|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260209 HPO RGD 1313391 IDH2 HP:0001658 PMID:19228619|PMID:19554337|PMID:20171147|PMID:21326614|PMID:22072542|PMID:25043045|PMID:26061751|PMID:27993330|PMID:34185076|PMID:35101336|RGD:8554872 IAGP RGD:12837921 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260519 ClinVar RGD 1313391 IDH2 HP:0001658 RGD:8554872 IAGP RGD:12834586 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20250107 ClinVar RGD 1313391 IDH2 HP:0001658 RGD:8554872 IAGP RGD:12836168 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20250107 ClinVar RGD 1313391 IDH2 HP:0001658 RGD:8554872 IAGP RGD:12848633 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20250107 ClinVar RGD 1313391 IDH2 HP:0002015 ORPHA:163634|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0002119 ORPHA:79315|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260209 HPO RGD 1313391 IDH2 HP:0002194 PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|RGD:8554872 IAGP RGD:8564421 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260602 ClinVar RGD 1313391 IDH2 HP:0002650 ORPHA:163634|ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20251023 HPO RGD 1313391 IDH2 HP:0002653 ORPHA:163634|ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20250416 HPO RGD 1313391 IDH2 HP:0002664 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0002664 PMID:19228619|PMID:21326614|PMID:22309944|PMID:35101336|PMID:39434542|RGD:8554872 IAGP RGD:12834479 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260519 ClinVar RGD 1313391 IDH2 HP:0002664 PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|RGD:8554872 IAGP RGD:8564421 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260602 ClinVar RGD 1313391 IDH2 HP:0002756 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20241212 HPO RGD 1313391 IDH2 HP:0002757 ORPHA:163634|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0002763 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0002797 ORPHA:163634|ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20250416 HPO RGD 1313391 IDH2 HP:0002857 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20251023 HPO RGD 1313391 IDH2 HP:0002863 RGD:8554872 IAGP RGD:12843807 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20250107 ClinVar RGD 1313391 IDH2 HP:0002893 ORPHA:163634|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0002897 ORPHA:163634|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0002967 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20241212 HPO RGD 1313391 IDH2 HP:0002970 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260209 HPO RGD 1313391 IDH2 HP:0002983 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0003002 ORPHA:163634|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0003067 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20241212 HPO RGD 1313391 IDH2 HP:0004322 ORPHA:163634|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0004808 RGD:8554872 IAGP RGD:12843807 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20250107 ClinVar RGD 1313391 IDH2 HP:0004936 ORPHA:163634|ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20250416 HPO RGD 1313391 IDH2 HP:0005701 ORPHA:163634|ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20250416 HPO RGD 1313391 IDH2 HP:0006765 ORPHA:163634|ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20250416 HPO RGD 1313391 IDH2 HP:0006775 RGD:8554872 IAGP RGD:12843807 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20250107 ClinVar RGD 1313391 IDH2 HP:0006824 ORPHA:163634|ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20250416 HPO RGD 1313391 IDH2 HP:0007361 PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|RGD:8554872 IAGP RGD:8564421 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260602 ClinVar RGD 1313391 IDH2 HP:0007461 ORPHA:163634|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0009592 ORPHA:163634|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0009792 RGD:8554872 IAGP RGD:329354942 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230509 ClinVar RGD 1313391 IDH2 HP:0010307 ORPHA:79315|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260209 HPO RGD 1313391 IDH2 HP:0010862 PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|RGD:8554872 IAGP RGD:8564421 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260602 ClinVar RGD 1313391 IDH2 HP:0011873 RGD:11522718|PMID:20368543 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20160804 RGD RGD 1313391 IDH2 HP:0011893 RGD:11522718|PMID:20368543 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20160804 RGD RGD 1313391 IDH2 HP:0012321 MIM:613657|ORPHA:79315|PMID:20847235|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260209 HPO RGD 1313391 IDH2 HP:0012444 PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|RGD:8554872 IAGP RGD:8564421 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260602 ClinVar RGD 1313391 IDH2 HP:0012448 ORPHA:79315|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260209 HPO RGD 1313391 IDH2 HP:0032278 PMID:20171147|PMID:20847235|PMID:21647154|PMID:21889589|PMID:23558173|PMID:23949315|PMID:24049096|PMID:24589777|PMID:25398939|PMID:25741868|PMID:27591990|PMID:28492532|PMID:34641967|PMID:35101336|RGD:8554872 IAGP RGD:8564421 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260602 ClinVar RGD 1313391 IDH2 HP:0040146 MIM:613657|ORPHA:79315|PMID:20847235|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260209 HPO RGD 1313391 IDH2 HP:0100021 ORPHA:163634|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0100242 ORPHA:163634|ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20250416 HPO RGD 1313391 IDH2 HP:0100242 RGD:8554872 IAGP RGD:714026688 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260519 ClinVar RGD 1313391 IDH2 HP:0100559 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20241212 HPO RGD 1313391 IDH2 HP:0100560 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20241212 HPO RGD 1313391 IDH2 HP:0100615 ORPHA:163634|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0100641 ORPHA:163634|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0100704 ORPHA:79315|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260209 HPO RGD 1313391 IDH2 HP:0100733 ORPHA:163634|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0100761 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0100764 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0100777 ORPHA:163634|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:0100834 RGD:8554872 IAGP RGD:12843807 H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20250107 ClinVar RGD 1313391 IDH2 HP:0200042 ORPHA:296|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20230821 HPO RGD 1313391 IDH2 HP:6000246 ORPHA:79315|RGD:8699517 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20260209 HPO RGD 1313391 IDH2 no_association HP:0011873 RGD:11522728|PMID:23815907 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20160805 RGD RGD 1313391 IDH2 no_association HP:0011893 RGD:11522728|PMID:23815907 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20160805 RGD RGD 1313391 IDH2 severity HP:0030358 RGD:150340558|PMID:25576295 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20210814 RGD RGD 1313391 IDH2 susceptibility HP:0100526 RGD:149735566|PMID:27649069 IAGP H isocitrate dehydrogenase (NADP(+)) 2 gene taxon:9606 20210722 RGD RGD 1313392 PLK4 HP:0000007 MIM:616171|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20260209 HPO RGD 1313392 PLK4 HP:0000252 MIM:616171|ORPHA:2518|ORPHA:808|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20260209 HPO RGD 1313392 PLK4 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:38596986 H polo like kinase 4 gene taxon:9606 20210323 ClinVar RGD 1313392 PLK4 HP:0000275 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000307 ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000340 MIM:616171|ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250416 HPO RGD 1313392 PLK4 HP:0000347 MIM:616171|ORPHA:808|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250912 HPO RGD 1313392 PLK4 HP:0000363 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000387 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000411 ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000431 ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000444 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000448 MIM:616171|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000463 ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000482 MIM:616171|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250912 HPO RGD 1313392 PLK4 HP:0000486 ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000488 MIM:616171|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000494 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000499 ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000501 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000505 MIM:616171|ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250416 HPO RGD 1313392 PLK4 HP:0000518 MIM:616171|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250912 HPO RGD 1313392 PLK4 HP:0000520 MIM:616171|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20260209 HPO RGD 1313392 PLK4 HP:0000543 MIM:616171|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20260209 HPO RGD 1313392 PLK4 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939553 H polo like kinase 4 gene taxon:9606 20250729 ClinVar RGD 1313392 PLK4 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939570 H polo like kinase 4 gene taxon:9606 20250107 ClinVar RGD 1313392 PLK4 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941363 H polo like kinase 4 gene taxon:9606 20250107 ClinVar RGD 1313392 PLK4 HP:0000568 MIM:616171|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000639 ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0000648 MIM:616171|ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250416 HPO RGD 1313392 PLK4 HP:0000648 PMID:25741868|RGD:8554872 IAGP RGD:596944555 H polo like kinase 4 gene taxon:9606 20250107 ClinVar RGD 1313392 PLK4 HP:0000682 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0001249 MIM:616171|ORPHA:2518|ORPHA:808|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20260209 HPO RGD 1313392 PLK4 HP:0001250 MIM:616171|ORPHA:2518|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250912 HPO RGD 1313392 PLK4 HP:0001263 MIM:616171|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20260209 HPO RGD 1313392 PLK4 HP:0001272 MIM:616171|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0001276 ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0001321 MIM:616171|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250912 HPO RGD 1313392 PLK4 HP:0001338 MIM:616171|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250912 HPO RGD 1313392 PLK4 HP:0001344 MIM:616171|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250912 HPO RGD 1313392 PLK4 HP:0001363 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0001382 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20260209 HPO RGD 1313392 PLK4 HP:0001385 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0001402 RGD:8554872 IAGP RGD:713928981 H polo like kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313392 PLK4 HP:0001511 MIM:616171|ORPHA:2518|ORPHA:808|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20260209 HPO RGD 1313392 PLK4 HP:0001762 MIM:616171|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250912 HPO RGD 1313392 PLK4 HP:0001852 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0002059 MIM:616171|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0002120 ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0002209 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0002269 ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0002650 ORPHA:2518|ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20251023 HPO RGD 1313392 PLK4 HP:0002665 RGD:8554872 IAGP RGD:714232396 H polo like kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313392 PLK4 HP:0002750 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0002943 MIM:616171|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250912 HPO RGD 1313392 PLK4 HP:0003577 MIM:616171|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0004209 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0004322 MIM:616171|ORPHA:2518|ORPHA:808|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250912 HPO RGD 1313392 PLK4 HP:0004326 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0004422 ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0004626 MIM:616171|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250912 HPO RGD 1313392 PLK4 HP:0006770 RGD:8554872 IAGP RGD:405284007 H polo like kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313392 PLK4 HP:0006770 RGD:8554872 IAGP RGD:714232390 H polo like kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313392 PLK4 HP:0007165 MIM:616171|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250912 HPO RGD 1313392 PLK4 HP:0007360 ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0007401 MIM:616171|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0007495 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0007703 ORPHA:2518|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0009804 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0009879 MIM:616171|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0010579 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0011342 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0011797 RGD:8554872 IAGP RGD:713936294 H polo like kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313392 PLK4 HP:0012110 MIM:616171|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250912 HPO RGD 1313392 PLK4 HP:0012126 RGD:8554872 IAGP RGD:405284007 H polo like kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313392 PLK4 HP:0012126 RGD:8554872 IAGP RGD:713928969 H polo like kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313392 PLK4 HP:0012126 RGD:8554872 IAGP RGD:713928996 H polo like kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313392 PLK4 HP:0012126 RGD:8554872 IAGP RGD:713945046 H polo like kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313392 PLK4 HP:0100242 RGD:8554872 IAGP RGD:714232364 H polo like kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313392 PLK4 HP:0100522 RGD:8554872 IAGP RGD:714232426 H polo like kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313392 PLK4 HP:0100526 RGD:8554872 IAGP RGD:714232407 H polo like kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313392 PLK4 HP:0100543 ORPHA:808|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20230821 HPO RGD 1313392 PLK4 HP:0100615 PMID:28492532|RGD:8554872 IAGP RGD:15197569 H polo like kinase 4 gene taxon:9606 20260519 ClinVar RGD 1313392 PLK4 HP:0100702 MIM:616171|PMID:25344692|RGD:8699517 IAGP H polo like kinase 4 gene taxon:9606 20250912 HPO RGD 1313394 NAP1L4 HP:0001402 RGD:8554872 IAGP RGD:714157589 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260519 ClinVar RGD 1313394 NAP1L4 HP:0002861 RGD:8554872 IAGP RGD:714224695 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260519 ClinVar RGD 1313394 NAP1L4 HP:0002861 RGD:8554872 IAGP RGD:714224712 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260519 ClinVar RGD 1313394 NAP1L4 HP:0002861 RGD:8554872 IAGP RGD:714224717 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260519 ClinVar RGD 1313394 NAP1L4 HP:0003003 RGD:8554872 IAGP RGD:714157589 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260519 ClinVar RGD 1313394 NAP1L4 HP:0004808 RGD:8554872 IAGP RGD:713736900 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260519 ClinVar RGD 1313394 NAP1L4 HP:0004808 RGD:8554872 IAGP RGD:713737374 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260707 ClinVar RGD 1313394 NAP1L4 HP:0006770 RGD:8554872 IAGP RGD:714224664 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260519 ClinVar RGD 1313394 NAP1L4 HP:0006770 RGD:8554872 IAGP RGD:714224677 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260519 ClinVar RGD 1313394 NAP1L4 HP:0006770 RGD:8554872 IAGP RGD:714224682 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260519 ClinVar RGD 1313394 NAP1L4 HP:0006770 RGD:8554872 IAGP RGD:714224745 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260519 ClinVar RGD 1313394 NAP1L4 HP:0006770 RGD:8554872 IAGP RGD:714224750 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260519 ClinVar RGD 1313394 NAP1L4 HP:0030153 RGD:8554872 IAGP RGD:713737374 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260519 ClinVar RGD 1313394 NAP1L4 HP:0030153 RGD:8554872 IAGP RGD:714018121 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260519 ClinVar RGD 1313394 NAP1L4 HP:0100242 RGD:8554872 IAGP RGD:713737374 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260707 ClinVar RGD 1313394 NAP1L4 HP:0100242 RGD:8554872 IAGP RGD:714224649 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260519 ClinVar RGD 1313394 NAP1L4 HP:0100522 RGD:8554872 IAGP RGD:713737374 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260707 ClinVar RGD 1313394 NAP1L4 HP:0100526 RGD:8554872 IAGP RGD:714224732 H nucleosome assembly protein 1 like 4 gene taxon:9606 20260519 ClinVar RGD 1313396 CPNE6 HP:0011797 RGD:8554872 IAGP RGD:714160456 H copine 6 gene taxon:9606 20260519 ClinVar RGD 1313396 CPNE6 HP:0100526 RGD:8554872 IAGP RGD:714207233 H copine 6 gene taxon:9606 20260519 ClinVar RGD 1313398 TIGD3 HP:0007716 RGD:8554872 IAGP RGD:713792540 H tigger transposable element derived 3 gene taxon:9606 20260519 ClinVar RGD 1313398 TIGD3 HP:0012126 RGD:8554872 IAGP RGD:714023093 H tigger transposable element derived 3 gene taxon:9606 20260519 ClinVar RGD 1313400 JMJD6 HP:0002861 RGD:8554872 IAGP RGD:713376369 H jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene taxon:9606 20260519 ClinVar RGD 1313400 JMJD6 HP:0100242 RGD:8554872 IAGP RGD:713376474 H jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene taxon:9606 20260519 ClinVar RGD 1313402 RSU1 HP:0002861 RGD:8554872 IAGP RGD:713381127 H Ras suppressor protein 1 gene taxon:9606 20260519 ClinVar RGD 1313402 RSU1 HP:0003003 RGD:8554872 IAGP RGD:713984601 H Ras suppressor protein 1 gene taxon:9606 20260519 ClinVar RGD 1313402 RSU1 HP:0011797 RGD:8554872 IAGP RGD:713781738 H Ras suppressor protein 1 gene taxon:9606 20260519 ClinVar RGD 1313402 RSU1 HP:0012126 RGD:8554872 IAGP RGD:713984588 H Ras suppressor protein 1 gene taxon:9606 20260519 ClinVar RGD 1313402 RSU1 HP:0030153 RGD:8554872 IAGP RGD:713380987 H Ras suppressor protein 1 gene taxon:9606 20260519 ClinVar RGD 1313402 RSU1 HP:0030153 RGD:8554872 IAGP RGD:713381206 H Ras suppressor protein 1 gene taxon:9606 20260519 ClinVar RGD 1313402 RSU1 HP:0100242 RGD:8554872 IAGP RGD:713778470 H Ras suppressor protein 1 gene taxon:9606 20260519 ClinVar RGD 1313402 RSU1 HP:0100242 RGD:8554872 IAGP RGD:713788371 H Ras suppressor protein 1 gene taxon:9606 20260519 ClinVar RGD 1313404 RBSN HP:0000007 MIM:620937|MIM:620939|PMID:29784638|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000010 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000064 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000105 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000160 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000179 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000189 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000194 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000218 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000286 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000308 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000340 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000341 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000358 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000369 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000407 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000414 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000426 MIM:620937|MIM:620939|PMID:29784638|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000430 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000437 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000448 MIM:620937|MIM:620939|PMID:29784638|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000482 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000490 MIM:620937|PMID:25233840|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000494 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000508 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000526 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000568 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000581 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000582 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000592 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000609 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000612 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000670 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000691 MIM:620937|PMID:25233840|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000750 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0000938 MIM:620937|MIM:620939|PMID:25233840|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001093 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001182 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001252 MIM:620937|MIM:620939|PMID:25233840|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001256 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001263 MIM:620937|MIM:620939|PMID:29784638|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001270 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001276 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001324 MIM:620937|MIM:620939|PMID:29784638|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001344 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001347 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001385 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001545 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001640 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001643 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001655 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001684 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001744 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001747 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001763 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001873 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001875 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001888 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001903 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001978 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0001999 MIM:620937|PMID:25233840|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002020 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002059 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002080 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002155 MIM:620937|MIM:620939|PMID:25233840|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002188 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002240 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002342 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002353 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002421 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002540 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002553 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002673 MIM:620937|PMID:25233840|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002719 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002750 MIM:620937|MIM:620939|PMID:25233840|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002779 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0002861 RGD:8554872 IAGP RGD:713821495 H rabenosyn, RAB effector gene taxon:9606 20260519 ClinVar RGD 1313404 RBSN HP:0003196 MIM:620937|PMID:25233840|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0003202 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0003593 MIM:620937|PMID:25233840|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0003623 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0003651 MIM:620937|PMID:25233840|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0003762 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0004322 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0004808 RGD:8554872 IAGP RGD:713956264 H rabenosyn, RAB effector gene taxon:9606 20260519 ClinVar RGD 1313404 RBSN HP:0004808 RGD:8554872 IAGP RGD:713957279 H rabenosyn, RAB effector gene taxon:9606 20260519 ClinVar RGD 1313404 RBSN HP:0004808 RGD:8554872 IAGP RGD:713957285 H rabenosyn, RAB effector gene taxon:9606 20260519 ClinVar RGD 1313404 RBSN HP:0005019 MIM:620937|PMID:25233840|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0005484 MIM:620937|PMID:25233840|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0005487 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0006895 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0007676 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0008232 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0009765 MIM:620937|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0010579 MIM:620937|PMID:25233840|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0010864 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0011400 MIM:620937|PMID:25233840|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0011471 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0011969 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0011974 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0012126 RGD:8554872 IAGP RGD:713597907 H rabenosyn, RAB effector gene taxon:9606 20260707 ClinVar RGD 1313404 RBSN HP:0012310 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0012469 MIM:620937|PMID:25233840|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0012521 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0020062 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0025733 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0030084 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0030153 RGD:8554872 IAGP RGD:713597907 H rabenosyn, RAB effector gene taxon:9606 20260707 ClinVar RGD 1313404 RBSN HP:0030153 RGD:8554872 IAGP RGD:713958510 H rabenosyn, RAB effector gene taxon:9606 20260519 ClinVar RGD 1313404 RBSN HP:0031020 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0031846 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0031936 MIM:620937|PMID:25233840|PMID:35652444|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0033281 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0033725 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0034311 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0100242 RGD:8554872 IAGP RGD:713597781 H rabenosyn, RAB effector gene taxon:9606 20260519 ClinVar RGD 1313404 RBSN HP:0100242 RGD:8554872 IAGP RGD:713597907 H rabenosyn, RAB effector gene taxon:9606 20260519 ClinVar RGD 1313404 RBSN HP:0100242 RGD:8554872 IAGP RGD:713821742 H rabenosyn, RAB effector gene taxon:9606 20260519 ClinVar RGD 1313404 RBSN HP:0100522 RGD:8554872 IAGP RGD:713597907 H rabenosyn, RAB effector gene taxon:9606 20260707 ClinVar RGD 1313404 RBSN HP:0100526 RGD:8554872 IAGP RGD:713597907 H rabenosyn, RAB effector gene taxon:9606 20260707 ClinVar RGD 1313404 RBSN HP:0100952 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313404 RBSN HP:0200049 MIM:620939|PMID:29784638|RGD:8699517 IAGP H rabenosyn, RAB effector gene taxon:9606 20260209 HPO RGD 1313406 TAF13 HP:0000007 MIM:617432|PMID:28257693|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20250912 HPO RGD 1313406 TAF13 HP:0000076 ORPHA:2512|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20230821 HPO RGD 1313406 TAF13 HP:0000122 ORPHA:2512|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20230821 HPO RGD 1313406 TAF13 HP:0000219 ORPHA:2512|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20230821 HPO RGD 1313406 TAF13 HP:0000252 MIM:617432|ORPHA:2512|PMID:28257693|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20250912 HPO RGD 1313406 TAF13 HP:0000340 ORPHA:2512|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20230821 HPO RGD 1313406 TAF13 HP:0000582 ORPHA:2512|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20230821 HPO RGD 1313406 TAF13 HP:0000823 MIM:617432|PMID:28257693|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20250912 HPO RGD 1313406 TAF13 HP:0001256 MIM:617432|PMID:28257693|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20260209 HPO RGD 1313406 TAF13 HP:0001263 MIM:617432|ORPHA:2512|PMID:28257693|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20250912 HPO RGD 1313406 TAF13 HP:0001274 ORPHA:2512|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20230821 HPO RGD 1313406 TAF13 HP:0001302 ORPHA:2512|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20230821 HPO RGD 1313406 TAF13 HP:0001347 ORPHA:2512|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20230821 HPO RGD 1313406 TAF13 HP:0001510 ORPHA:2512|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20230821 HPO RGD 1313406 TAF13 HP:0001518 MIM:617432|PMID:28257693|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20250912 HPO RGD 1313406 TAF13 HP:0002119 ORPHA:2512|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20230821 HPO RGD 1313406 TAF13 HP:0002188 MIM:617432|PMID:28257693|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20250912 HPO RGD 1313406 TAF13 HP:0002282 ORPHA:2512|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20230821 HPO RGD 1313406 TAF13 HP:0002750 MIM:617432|PMID:28257693|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20250912 HPO RGD 1313406 TAF13 HP:0003103 ORPHA:2512|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20230821 HPO RGD 1313406 TAF13 HP:0003593 MIM:617432|PMID:28257693|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20250912 HPO RGD 1313406 TAF13 HP:0004322 MIM:617432|ORPHA:2512|PMID:28257693|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20250912 HPO RGD 1313406 TAF13 HP:0004808 PMID:25741868|RGD:8554872 IAGP RGD:401858463 H TATA-box binding protein associated factor 13 gene taxon:9606 20260519 ClinVar RGD 1313406 TAF13 HP:0007333 ORPHA:2512|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20230821 HPO RGD 1313406 TAF13 HP:0010864 ORPHA:2512|RGD:8699517 IAGP H TATA-box binding protein associated factor 13 gene taxon:9606 20230821 HPO RGD 1313406 TAF13 HP:0100522 RGD:8554872 IAGP RGD:714200842 H TATA-box binding protein associated factor 13 gene taxon:9606 20260519 ClinVar RGD 1313406 TAF13 HP:0100753 PMID:21681106|PMID:30208311|RGD:8554872 IAGP RGD:14352070 H TATA-box binding protein associated factor 13 gene taxon:9606 20250729 ClinVar RGD 1313408 IFNAR1 HP:0000007 MIM:619935|PMID:31270247|RGD:8699517 IAGP H interferon alpha and beta receptor subunit 1 gene taxon:9606 20250912 HPO RGD 1313408 IFNAR1 HP:0000517 PMID:28492532|RGD:8554872 IAGP RGD:151869657 H interferon alpha and beta receptor subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313408 IFNAR1 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:243062475 H interferon alpha and beta receptor subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313408 IFNAR1 HP:0001402 RGD:8554872 IAGP RGD:713370867 H interferon alpha and beta receptor subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313408 IFNAR1 HP:0001622 PMID:28492532|RGD:8554872 IAGP RGD:151869657 H interferon alpha and beta receptor subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313408 IFNAR1 HP:0003593 MIM:619935|PMID:31270247|RGD:8699517 IAGP H interferon alpha and beta receptor subunit 1 gene taxon:9606 20250912 HPO RGD 1313408 IFNAR1 HP:0003621 MIM:619935|PMID:31270247|RGD:8699517 IAGP H interferon alpha and beta receptor subunit 1 gene taxon:9606 20250912 HPO RGD 1313408 IFNAR1 HP:0004787 PMID:25741868|RGD:8554872 IAGP RGD:243062475 H interferon alpha and beta receptor subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313408 IFNAR1 HP:0004808 RGD:8554872 IAGP RGD:713965095 H interferon alpha and beta receptor subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313408 IFNAR1 HP:0004808 RGD:8554872 IAGP RGD:713967252 H interferon alpha and beta receptor subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313408 IFNAR1 HP:0006770 RGD:8554872 IAGP RGD:713857548 H interferon alpha and beta receptor subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313408 IFNAR1 HP:0011797 RGD:8554872 IAGP RGD:713965087 H interferon alpha and beta receptor subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313408 IFNAR1 HP:0020088 MIM:619935|PMID:31270247|RGD:8699517 IAGP H interferon alpha and beta receptor subunit 1 gene taxon:9606 20250912 HPO RGD 1313408 IFNAR1 HP:0030359 RGD:8554872 IAGP RGD:713830003 H interferon alpha and beta receptor subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313408 IFNAR1 HP:0030359 RGD:8554872 IAGP RGD:713857587 H interferon alpha and beta receptor subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313408 IFNAR1 HP:0031697 PMID:25741868|RGD:8554872 IAGP RGD:243062475 H interferon alpha and beta receptor subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313408 IFNAR1 HP:0034310 MIM:619935|PMID:31270247|RGD:8699517 IAGP H interferon alpha and beta receptor subunit 1 gene taxon:9606 20250912 HPO RGD 1313408 IFNAR1 HP:0100242 RGD:8554872 IAGP RGD:713857693 H interferon alpha and beta receptor subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313408 IFNAR1 HP:0100242 RGD:8554872 IAGP RGD:713967252 H interferon alpha and beta receptor subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313413 COMMD8 HP:0001166 PMID:25741868|RGD:8554872 IAGP RGD:597631022 H COMM domain containing 8 gene taxon:9606 20260519 ClinVar RGD 1313413 COMMD8 HP:0001402 RGD:8554872 IAGP RGD:714072613 H COMM domain containing 8 gene taxon:9606 20260519 ClinVar RGD 1313413 COMMD8 HP:0002861 RGD:8554872 IAGP RGD:714188101 H COMM domain containing 8 gene taxon:9606 20260519 ClinVar RGD 1313413 COMMD8 HP:0010648 PMID:25741868|RGD:8554872 IAGP RGD:401780814 H COMM domain containing 8 gene taxon:9606 20260519 ClinVar RGD 1313413 COMMD8 HP:0011797 RGD:8554872 IAGP RGD:713445199 H COMM domain containing 8 gene taxon:9606 20260519 ClinVar RGD 1313413 COMMD8 HP:0100526 RGD:8554872 IAGP RGD:714188081 H COMM domain containing 8 gene taxon:9606 20260519 ClinVar RGD 1313413 COMMD8 HP:0100526 RGD:8554872 IAGP RGD:714188107 H COMM domain containing 8 gene taxon:9606 20260519 ClinVar RGD 1313416 LECT2 HP:0011797 RGD:8554872 IAGP RGD:713460510 H leukocyte cell derived chemotaxin 2 gene taxon:9606 20260519 ClinVar RGD 1313416 LECT2 HP:0100615 RGD:8554872 IAGP RGD:713877846 H leukocyte cell derived chemotaxin 2 gene taxon:9606 20260519 ClinVar RGD 1313418 ZCWPW1 HP:0001402 RGD:8554872 IAGP RGD:713724031 H zinc finger CW-type and PWWP domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313418 ZCWPW1 HP:0002861 RGD:8554872 IAGP RGD:713492832 H zinc finger CW-type and PWWP domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313418 ZCWPW1 HP:0002861 RGD:8554872 IAGP RGD:713492972 H zinc finger CW-type and PWWP domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313418 ZCWPW1 HP:0004808 RGD:8554872 IAGP RGD:713724031 H zinc finger CW-type and PWWP domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313418 ZCWPW1 HP:0006770 RGD:8554872 IAGP RGD:713724031 H zinc finger CW-type and PWWP domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313418 ZCWPW1 HP:0012126 RGD:8554872 IAGP RGD:713570267 H zinc finger CW-type and PWWP domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313418 ZCWPW1 HP:0012126 RGD:8554872 IAGP RGD:713724031 H zinc finger CW-type and PWWP domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313418 ZCWPW1 HP:0100242 RGD:8554872 IAGP RGD:713724031 H zinc finger CW-type and PWWP domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313418 ZCWPW1 HP:0100522 RGD:8554872 IAGP RGD:713492733 H zinc finger CW-type and PWWP domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313418 ZCWPW1 HP:0100522 RGD:8554872 IAGP RGD:713492935 H zinc finger CW-type and PWWP domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313418 ZCWPW1 HP:0100522 RGD:8554872 IAGP RGD:713724031 H zinc finger CW-type and PWWP domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313418 ZCWPW1 HP:0100526 RGD:8554872 IAGP RGD:713492873 H zinc finger CW-type and PWWP domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313418 ZCWPW1 HP:0100526 RGD:8554872 IAGP RGD:713724031 H zinc finger CW-type and PWWP domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313418 ZCWPW1 HP:0100526 RGD:8554872 IAGP RGD:714174397 H zinc finger CW-type and PWWP domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313419 SMARCD1 HP:0000006 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0000028 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000047 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000085 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000119 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000154 MIM:618779|ORPHA:1465|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0000179 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000185 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0000193 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0000218 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0000219 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000252 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000280 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000289 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000294 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000316 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0000341 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0000365 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000414 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0000455 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000463 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000486 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000505 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000508 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000545 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000574 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000684 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000708 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000718 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000729 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000750 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0000752 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0000998 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0001007 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0001249 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0001250 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0001252 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0001263 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155643195 H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20260519 ClinVar RGD 1313419 SMARCD1 HP:0001263 RGD:8554872 IAGP RGD:596941194 H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20260519 ClinVar RGD 1313419 SMARCD1 HP:0001274 MIM:618779|ORPHA:1465|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0001305 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0001344 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0001382 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20240118 HPO RGD 1313419 SMARCD1 HP:0001510 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0001511 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0001627 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0001629 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0001631 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0001636 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0001643 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0001792 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0001999 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0002007 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0002032 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0002162 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0002209 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0002342 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0002650 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0002714 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0002719 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0002750 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0002788 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0002884 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0002895 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0003196 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0004322 RGD:8554872 IAGP RGD:596941194 H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20260519 ClinVar RGD 1313419 SMARCD1 HP:0005280 MIM:618779|ORPHA:1465|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0005487 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0006725 RGD:8554872 IAGP RGD:713864839 H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20260519 ClinVar RGD 1313419 SMARCD1 HP:0008398 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0008872 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0008897 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0008947 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0009237 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0009879 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0009909 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0009928 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0010864 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0011231 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0011937 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0011951 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0011968 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0012126 RGD:8554872 IAGP RGD:713624800 H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20260519 ClinVar RGD 1313419 SMARCD1 HP:0012523 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0012758 RGD:8554872 IAGP RGD:596941194 H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20260519 ClinVar RGD 1313419 SMARCD1 HP:0012810 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0030084 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0030153 RGD:8554872 IAGP RGD:713819652 H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20260519 ClinVar RGD 1313419 SMARCD1 HP:0030153 RGD:8554872 IAGP RGD:713864798 H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20260519 ClinVar RGD 1313419 SMARCD1 HP:0031936 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313419 SMARCD1 HP:0032367 RGD:8554872 IAGP RGD:596941194 H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20260519 ClinVar RGD 1313419 SMARCD1 HP:0034323 RGD:8554872 IAGP RGD:596941194 H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20260519 ClinVar RGD 1313419 SMARCD1 HP:0100790 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20230821 HPO RGD 1313419 SMARCD1 HP:0200055 MIM:618779|PMID:30879640|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit D1 gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0000007 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0000020 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0000708 MIM:617114|PMID:27484770|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0001249 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0001263 MIM:617114|PMID:27484770|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0001265 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0001272 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0001288 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0001324 MIM:617114|PMID:27484770|PMID:27485408|PMID:30591934|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0001371 MIM:617114|PMID:30591934|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0001761 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0001762 MIM:617114|ORPHA:496689|PMID:30591934|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0001771 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0002015 MIM:617114|ORPHA:496689|PMID:27484770|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0002059 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0002061 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0002194 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0002395 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0002607 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0002650 MIM:617114|PMID:30591934|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0002751 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0002828 MIM:617114|PMID:27484770|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0002938 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0002942 MIM:617114|PMID:27484770|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0002987 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0003044 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0003093 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0003202 MIM:617114|PMID:27484770|PMID:27485408|PMID:30591934|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0003236 MIM:617114|PMID:30591934|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0003306 MIM:617114|PMID:27484770|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0003326 MIM:617114|PMID:27484770|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0003394 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0003487 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0003557 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0003577 MIM:617114|PMID:27484770|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0003677 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0003698 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0003798 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0006380 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0007020 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0007210 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0008997 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0009027 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0009046 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0009129 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0010602 MIM:617114|PMID:27484770|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0010628 MIM:617114|PMID:27484770|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0010677 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0012473 MIM:617114|ORPHA:496689|PMID:27484770|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0012531 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0020203 MIM:617114|PMID:27484770|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0025435 MIM:617114|PMID:30591934|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0030051 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313421 KY HP:0033008 MIM:617114|PMID:27485408|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20250912 HPO RGD 1313421 KY HP:0040081 ORPHA:496689|RGD:8699517 IAGP H kyphoscoliosis peptidase gene taxon:9606 20230821 HPO RGD 1313423 FOXK2 HP:0004808 RGD:8554872 IAGP RGD:713712231 H forkhead box K2 gene taxon:9606 20260519 ClinVar RGD 1313423 FOXK2 HP:0004808 RGD:8554872 IAGP RGD:713712245 H forkhead box K2 gene taxon:9606 20260519 ClinVar RGD 1313423 FOXK2 HP:0004808 RGD:8554872 IAGP RGD:714184304 H forkhead box K2 gene taxon:9606 20260519 ClinVar RGD 1313423 FOXK2 HP:0030153 RGD:8554872 IAGP RGD:713712213 H forkhead box K2 gene taxon:9606 20260519 ClinVar RGD 1313426 TTC17 HP:0001402 RGD:8554872 IAGP RGD:713349507 H tetratricopeptide repeat domain 17 gene taxon:9606 20260519 ClinVar RGD 1313426 TTC17 HP:0002861 RGD:8554872 IAGP RGD:713364824 H tetratricopeptide repeat domain 17 gene taxon:9606 20260519 ClinVar RGD 1313426 TTC17 HP:0002861 RGD:8554872 IAGP RGD:713817815 H tetratricopeptide repeat domain 17 gene taxon:9606 20260519 ClinVar RGD 1313426 TTC17 HP:0004808 RGD:8554872 IAGP RGD:713738111 H tetratricopeptide repeat domain 17 gene taxon:9606 20260519 ClinVar RGD 1313426 TTC17 HP:0004808 RGD:8554872 IAGP RGD:713743878 H tetratricopeptide repeat domain 17 gene taxon:9606 20260519 ClinVar RGD 1313426 TTC17 HP:0012126 RGD:8554872 IAGP RGD:714019171 H tetratricopeptide repeat domain 17 gene taxon:9606 20260519 ClinVar RGD 1313426 TTC17 HP:0030359 RGD:8554872 IAGP RGD:713364801 H tetratricopeptide repeat domain 17 gene taxon:9606 20260519 ClinVar RGD 1313426 TTC17 HP:0100242 RGD:8554872 IAGP RGD:713364894 H tetratricopeptide repeat domain 17 gene taxon:9606 20260519 ClinVar RGD 1313426 TTC17 HP:0100242 RGD:8554872 IAGP RGD:713743818 H tetratricopeptide repeat domain 17 gene taxon:9606 20260519 ClinVar RGD 1313426 TTC17 HP:0100242 RGD:8554872 IAGP RGD:714019160 H tetratricopeptide repeat domain 17 gene taxon:9606 20260519 ClinVar RGD 1313426 TTC17 HP:0100522 RGD:8554872 IAGP RGD:713364894 H tetratricopeptide repeat domain 17 gene taxon:9606 20260519 ClinVar RGD 1313426 TTC17 HP:0100526 RGD:8554872 IAGP RGD:713364741 H tetratricopeptide repeat domain 17 gene taxon:9606 20260519 ClinVar RGD 1313426 TTC17 HP:0100526 RGD:8554872 IAGP RGD:713364991 H tetratricopeptide repeat domain 17 gene taxon:9606 20260519 ClinVar RGD 1313428 CDC34 HP:0100522 RGD:8554872 IAGP RGD:713826984 H cell division cycle 34, ubiquitin conjugating enzyme gene taxon:9606 20260519 ClinVar RGD 1313432 UCHL5 HP:0001402 RGD:8554872 IAGP RGD:713661833 H ubiquitin C-terminal hydrolase L5 gene taxon:9606 20260519 ClinVar RGD 1313432 UCHL5 HP:0001402 RGD:8554872 IAGP RGD:714083387 H ubiquitin C-terminal hydrolase L5 gene taxon:9606 20260519 ClinVar RGD 1313432 UCHL5 HP:0006770 RGD:8554872 IAGP RGD:713510739 H ubiquitin C-terminal hydrolase L5 gene taxon:9606 20260519 ClinVar RGD 1313432 UCHL5 HP:0011797 RGD:8554872 IAGP RGD:713734403 H ubiquitin C-terminal hydrolase L5 gene taxon:9606 20260519 ClinVar RGD 1313432 UCHL5 HP:0011797 RGD:8554872 IAGP RGD:713986436 H ubiquitin C-terminal hydrolase L5 gene taxon:9606 20260519 ClinVar RGD 1313432 UCHL5 HP:0012126 RGD:8554872 IAGP RGD:713661926 H ubiquitin C-terminal hydrolase L5 gene taxon:9606 20260519 ClinVar RGD 1313432 UCHL5 HP:0100242 RGD:8554872 IAGP RGD:713509867 H ubiquitin C-terminal hydrolase L5 gene taxon:9606 20260519 ClinVar RGD 1313432 UCHL5 HP:0100526 RGD:8554872 IAGP RGD:713509684 H ubiquitin C-terminal hydrolase L5 gene taxon:9606 20260519 ClinVar RGD 1313432 UCHL5 HP:0100526 RGD:8554872 IAGP RGD:714123398 H ubiquitin C-terminal hydrolase L5 gene taxon:9606 20260519 ClinVar RGD 1313436 ATPAF1 HP:0100242 RGD:8554872 IAGP RGD:713764335 H ATP synthase mitochondrial F1 complex assembly factor 1 gene taxon:9606 20260519 ClinVar RGD 1313436 ATPAF1 HP:0100522 RGD:8554872 IAGP RGD:713850315 H ATP synthase mitochondrial F1 complex assembly factor 1 gene taxon:9606 20260519 ClinVar RGD 1313437 POLR2E HP:0002861 RGD:8554872 IAGP RGD:713769586 H RNA polymerase II, I and III subunit E gene taxon:9606 20260519 ClinVar RGD 1313437 POLR2E HP:0004322 RGD:8554872 IAGP RGD:14350214 H RNA polymerase II, I and III subunit E gene taxon:9606 20210323 ClinVar RGD 1313437 POLR2E HP:0006770 RGD:8554872 IAGP RGD:713769748 H RNA polymerase II, I and III subunit E gene taxon:9606 20260519 ClinVar RGD 1313437 POLR2E HP:0012126 RGD:8554872 IAGP RGD:714270323 H RNA polymerase II, I and III subunit E gene taxon:9606 20260519 ClinVar RGD 1313437 POLR2E HP:0100242 RGD:8554872 IAGP RGD:713769936 H RNA polymerase II, I and III subunit E gene taxon:9606 20260519 ClinVar RGD 1313437 POLR2E HP:0100522 RGD:8554872 IAGP RGD:713769353 H RNA polymerase II, I and III subunit E gene taxon:9606 20260519 ClinVar RGD 1313437 POLR2E HP:0100522 RGD:8554872 IAGP RGD:713769410 H RNA polymerase II, I and III subunit E gene taxon:9606 20260519 ClinVar RGD 1313437 POLR2E HP:0100526 RGD:8554872 IAGP RGD:713769727 H RNA polymerase II, I and III subunit E gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0000007 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0000154 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0000189 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0000252 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0000252 PMID:25356970|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30921410|PMID:31216405|PMID:34717047|PMID:38438854|RGD:8554872 IAGP RGD:10411311 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0000252 PMID:25741868|PMID:28492532|PMID:30921410|PMID:31618753|PMID:31665838|PMID:35068129|RGD:8554872 IAGP RGD:13528564 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0000253 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0000337 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0000341 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0000365 PMID:22569581|PMID:25741868|PMID:35571021|PMID:38009286|RGD:8554872 IAGP RGD:155797324 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0000426 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0000490 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0000577 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0000698 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:408394076 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0000729 PMID:20635367|PMID:20952379|PMID:22569581|PMID:25356970|PMID:25741868|PMID:26083569|PMID:26795593|PMID:26968897|PMID:28492532|PMID:31102535|PMID:34085948|PMID:34247374|PMID:35571021|PMID:38009286|RGD:8554872 IAGP RGD:11060102 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260602 ClinVar RGD 1313439 RARS2 HP:0000750 PMID:20635367|PMID:20952379|PMID:22569581|PMID:25356970|PMID:25741868|PMID:26083569|PMID:26795593|PMID:26968897|PMID:28492532|PMID:31102535|PMID:34085948|PMID:34247374|PMID:35571021|PMID:38009286|RGD:8554872 IAGP RGD:11060102 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260602 ClinVar RGD 1313439 RARS2 HP:0000817 PMID:22569581|PMID:25741868|PMID:35571021|PMID:38009286|RGD:8554872 IAGP RGD:155797324 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001249 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001250 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0001250 PMID:17847012|PMID:22569581|PMID:26083569|PMID:28492532|RGD:8554872 IAGP RGD:150338473 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001250 PMID:24047924|PMID:25741868|PMID:28492532|PMID:33209735|RGD:8554872 IAGP RGD:10409458 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001250 PMID:25356970|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30921410|PMID:31216405|PMID:34717047|PMID:38438854|RGD:8554872 IAGP RGD:10411311 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001250 PMID:25741868|PMID:28492532|PMID:30921410|PMID:31618753|PMID:31665838|PMID:35068129|RGD:8554872 IAGP RGD:13528564 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001252 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0001252 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001252 PMID:22569581|PMID:25741868|PMID:35571021|PMID:38009286|RGD:8554872 IAGP RGD:155797324 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001254 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0001257 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0001263 PMID:22569581|PMID:25741868|PMID:35571021|PMID:38009286|RGD:8554872 IAGP RGD:155797324 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001263 PMID:25356970|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30921410|PMID:31216405|PMID:34717047|PMID:38438854|RGD:8554872 IAGP RGD:10411311 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001263 PMID:25741868|PMID:28492532|PMID:30921410|PMID:31618753|PMID:31665838|PMID:35068129|RGD:8554872 IAGP RGD:13528564 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001272 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0001290 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0001320 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0001321 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0001321 PMID:25533962|PMID:25741868|PMID:2706168|PMID:27061686|PMID:28492532|PMID:29881806|PMID:31429931|PMID:31474318|RGD:8554872 IAGP RGD:14689514 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230214 ClinVar RGD 1313439 RARS2 HP:0001321 PMID:25741868|PMID:31474318|RGD:8554872 IAGP RGD:14689513 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20240109 ClinVar RGD 1313439 RARS2 HP:0001344 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0001347 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0001371 PMID:25356970|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30921410|PMID:31216405|PMID:34717047|PMID:38438854|RGD:8554872 IAGP RGD:10411311 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001371 PMID:25741868|PMID:28492532|PMID:30921410|PMID:31618753|PMID:31665838|PMID:35068129|RGD:8554872 IAGP RGD:13528564 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001402 RGD:8554872 IAGP RGD:714081946 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001402 RGD:8554872 IAGP RGD:714081958 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001508 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0001518 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001631 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001795 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0001798 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0002020 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0002033 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0002059 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0002059 PMID:22569581|PMID:25741868|PMID:35571021|PMID:38009286|RGD:8554872 IAGP RGD:155797324 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0002061 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0002104 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0002120 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0002123 PMID:25533962|PMID:25741868|PMID:2706168|PMID:27061686|PMID:28492532|PMID:29881806|PMID:31429931|PMID:31474318|RGD:8554872 IAGP RGD:14689514 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0002133 RGD:8554872 IAGP RGD:40886944 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0002151 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0002191 PMID:25356970|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30921410|PMID:31216405|PMID:34717047|PMID:38438854|RGD:8554872 IAGP RGD:10411311 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0002191 PMID:25741868|PMID:28492532|PMID:30921410|PMID:31618753|PMID:31665838|PMID:35068129|RGD:8554872 IAGP RGD:13528564 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0002197 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0002421 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0002490 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0002533 PMID:22569581|PMID:25741868|PMID:35571021|PMID:38009286|RGD:8554872 IAGP RGD:155797324 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0002650 PMID:25356970|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30921410|PMID:31216405|PMID:34717047|PMID:38438854|RGD:8554872 IAGP RGD:10411311 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0002650 PMID:25741868|PMID:28492532|PMID:30921410|PMID:31618753|PMID:31665838|PMID:35068129|RGD:8554872 IAGP RGD:13528564 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0002665 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11548039 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0002861 RGD:8554872 IAGP RGD:713485435 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0002861 RGD:8554872 IAGP RGD:713485522 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0002861 RGD:8554872 IAGP RGD:713485664 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0003577 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0003676 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0003819 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0004322 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0004808 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11548039 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0004808 RGD:8554872 IAGP RGD:713719757 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0004991 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0005484 PMID:25356970|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30921410|PMID:31216405|PMID:34717047|PMID:38438854|RGD:8554872 IAGP RGD:10411311 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0005484 PMID:25741868|PMID:28492532|PMID:30921410|PMID:31618753|PMID:31665838|PMID:35068129|RGD:8554872 IAGP RGD:13528564 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0006770 PMID:16199547|PMID:17847012|PMID:22569581|PMID:26083569|PMID:28492532|RGD:8554872 IAGP RGD:402492248 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0006770 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11548039 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0006770 RGD:8554872 IAGP RGD:713485325 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0006770 RGD:8554872 IAGP RGD:713485548 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0006986 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0007366 MIM:611523|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20230821 HPO RGD 1313439 RARS2 HP:0008347 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0008936 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0009183 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0010605 PMID:25356970|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30921410|PMID:31216405|PMID:34717047|PMID:38438854|RGD:8554872 IAGP RGD:10411311 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0010605 PMID:25741868|PMID:28492532|PMID:30921410|PMID:31618753|PMID:31665838|PMID:35068129|RGD:8554872 IAGP RGD:13528564 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0011797 RGD:8554872 IAGP RGD:713719741 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0011923 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0011924 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0011968 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0012443 PMID:25741868|PMID:26539891|PMID:26968897|PMID:28492532|PMID:31102535|PMID:34085948|PMID:34717047|PMID:34869784|RGD:8554872 IAGP RGD:12858964 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20231212 ClinVar RGD 1313439 RARS2 HP:0012444 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0012736 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0030055 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0030153 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11548039 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0030153 RGD:8554872 IAGP RGD:150549435 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0032794 PMID:22569581|PMID:25741868|PMID:35571021|PMID:38009286|RGD:8554872 IAGP RGD:155797324 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0034353 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0034391 MIM:611523|PMID:17847012|RGD:8699517 IAGP H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20250912 HPO RGD 1313439 RARS2 HP:0100238 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0100242 RGD:8554872 IAGP RGD:150411220 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0100242 RGD:8554872 IAGP RGD:713359424 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0100242 RGD:8554872 IAGP RGD:713719757 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0100522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11548039 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0100522 RGD:8554872 IAGP RGD:713485212 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0100522 RGD:8554872 IAGP RGD:713719757 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0100543 PMID:22569581|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13704834 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313439 RARS2 HP:0100615 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11548039 H arginyl-tRNA synthetase 2, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313441 TRMO HP:0006770 RGD:8554872 IAGP RGD:713473015 H tRNA methyltransferase O gene taxon:9606 20260519 ClinVar RGD 1313441 TRMO HP:0006770 RGD:8554872 IAGP RGD:713473033 H tRNA methyltransferase O gene taxon:9606 20260519 ClinVar RGD 1313441 TRMO HP:0100526 RGD:8554872 IAGP RGD:713473070 H tRNA methyltransferase O gene taxon:9606 20260519 ClinVar RGD 1313443 RFK HP:0006770 RGD:8554872 IAGP RGD:713768087 H riboflavin kinase gene taxon:9606 20260519 ClinVar RGD 1313443 RFK HP:0012126 RGD:8554872 IAGP RGD:713728503 H riboflavin kinase gene taxon:9606 20260519 ClinVar RGD 1313449 SUPT3H HP:0001402 RGD:8554872 IAGP RGD:713760913 H SPT3 homolog, SAGA and STAGA complex component gene taxon:9606 20260519 ClinVar RGD 1313449 SUPT3H HP:0001402 RGD:8554872 IAGP RGD:713760928 H SPT3 homolog, SAGA and STAGA complex component gene taxon:9606 20260519 ClinVar RGD 1313449 SUPT3H HP:0002861 RGD:8554872 IAGP RGD:714094015 H SPT3 homolog, SAGA and STAGA complex component gene taxon:9606 20260519 ClinVar RGD 1313449 SUPT3H HP:0002861 RGD:8554872 IAGP RGD:714094050 H SPT3 homolog, SAGA and STAGA complex component gene taxon:9606 20260519 ClinVar RGD 1313449 SUPT3H HP:0012126 RGD:8554872 IAGP RGD:713566050 H SPT3 homolog, SAGA and STAGA complex component gene taxon:9606 20260519 ClinVar RGD 1313449 SUPT3H HP:0012126 RGD:8554872 IAGP RGD:713566070 H SPT3 homolog, SAGA and STAGA complex component gene taxon:9606 20260519 ClinVar RGD 1313449 SUPT3H HP:0100242 RGD:8554872 IAGP RGD:713566026 H SPT3 homolog, SAGA and STAGA complex component gene taxon:9606 20260519 ClinVar RGD 1313449 SUPT3H HP:0100242 RGD:8554872 IAGP RGD:714094023 H SPT3 homolog, SAGA and STAGA complex component gene taxon:9606 20260519 ClinVar RGD 1313449 SUPT3H HP:0100522 RGD:8554872 IAGP RGD:713718561 H SPT3 homolog, SAGA and STAGA complex component gene taxon:9606 20260519 ClinVar RGD 1313449 SUPT3H HP:0100522 RGD:8554872 IAGP RGD:714094029 H SPT3 homolog, SAGA and STAGA complex component gene taxon:9606 20260519 ClinVar RGD 1313449 SUPT3H HP:0100522 RGD:8554872 IAGP RGD:714094089 H SPT3 homolog, SAGA and STAGA complex component gene taxon:9606 20260519 ClinVar RGD 1313449 SUPT3H HP:0100526 RGD:8554872 IAGP RGD:714094060 H SPT3 homolog, SAGA and STAGA complex component gene taxon:9606 20260519 ClinVar RGD 1313451 SNRPF HP:0001402 RGD:8554872 IAGP RGD:714158274 H small nuclear ribonucleoprotein polypeptide F gene taxon:9606 20260519 ClinVar RGD 1313451 SNRPF HP:0006770 RGD:8554872 IAGP RGD:714082536 H small nuclear ribonucleoprotein polypeptide F gene taxon:9606 20260519 ClinVar RGD 1313451 SNRPF HP:0100242 RGD:8554872 IAGP RGD:713659085 H small nuclear ribonucleoprotein polypeptide F gene taxon:9606 20260519 ClinVar RGD 1313451 SNRPF HP:0100242 RGD:8554872 IAGP RGD:714082516 H small nuclear ribonucleoprotein polypeptide F gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0000006 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0000158 PMID:25741868|RGD:8554872 IAGP RGD:155798767 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0000219 PMID:25741868|RGD:8554872 IAGP RGD:155798767 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0000252 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0000316 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0000319 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0000322 PMID:25741868|RGD:8554872 IAGP RGD:155798767 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0000347 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0000369 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0000455 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0000463 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0000486 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0000494 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0000520 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0000627 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0000670 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0000717 RGD:8554872 IAGP RGD:153349204 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0000729 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:155798767 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0000767 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0001249 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0001249 PMID:25741868|PMID:33350388|RGD:8554872 IAGP RGD:21074150 H lysine demethylase 5A gene taxon:9606 20250729 ClinVar RGD 1313452 KDM5A HP:0001249 PMID:25741868|PMID:33350388|RGD:8554872 IAGP RGD:329848473 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0001249 PMID:25741868|PMID:33350388|RGD:8554872 IAGP RGD:329848474 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0001249 RGD:8554872 IAGP RGD:153349204 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0001250 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0001251 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0001252 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:155798767 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0001263 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155798767 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0001288 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0001344 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0001402 RGD:8554872 IAGP RGD:713351610 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0001402 RGD:8554872 IAGP RGD:713792124 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0001629 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0001629 RGD:8554872 IAGP RGD:151663696 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0001631 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0001680 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0001684 RGD:8554872 IAGP RGD:151663696 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0001822 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0002007 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:155798767 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0002079 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0002861 RGD:8554872 IAGP RGD:713851918 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0002861 RGD:8554872 IAGP RGD:713852282 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0004209 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0004691 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0004808 RGD:8554872 IAGP RGD:405276089 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0004808 RGD:8554872 IAGP RGD:714039508 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0004808 RGD:8554872 IAGP RGD:714048059 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0006770 RGD:8554872 IAGP RGD:713851606 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0006770 RGD:8554872 IAGP RGD:713851626 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0006970 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0010529 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0011797 RGD:8554872 IAGP RGD:714039446 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0011797 RGD:8554872 IAGP RGD:714042576 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0011968 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0012104 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A HP:0012126 PMID:25741868|RGD:8554872 IAGP RGD:405292960 H lysine demethylase 5A gene taxon:9606 20260707 ClinVar RGD 1313452 KDM5A HP:0012126 RGD:8554872 IAGP RGD:713624220 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0100242 RGD:8554872 IAGP RGD:405276089 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0100242 RGD:8554872 IAGP RGD:713855338 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0100242 RGD:8554872 IAGP RGD:713862283 H lysine demethylase 5A gene taxon:9606 20260519 ClinVar RGD 1313452 KDM5A HP:0100522 PMID:25741868|RGD:8554872 IAGP RGD:405292960 H lysine demethylase 5A gene taxon:9606 20260707 ClinVar RGD 1313452 KDM5A HP:0100526 PMID:25741868|RGD:8554872 IAGP RGD:405292960 H lysine demethylase 5A gene taxon:9606 20260707 ClinVar RGD 1313452 KDM5A HP:0410170 MIM:620820|PMID:33350388|RGD:8699517 IAGP H lysine demethylase 5A gene taxon:9606 20250912 HPO RGD 1313452 KDM5A susceptibility HP:0003419 RGD:9588532|PMID:24069348 IAGP H lysine demethylase 5A gene taxon:9606 20180611 RGD RGD 1313452 KDM5A susceptibility HP:0006596 RGD:9588532|PMID:24069348 IAGP H lysine demethylase 5A gene taxon:9606 20180611 RGD RGD 1313452 KDM5A susceptibility HP:0100712 RGD:9588532|PMID:24069348 IAGP H lysine demethylase 5A gene taxon:9606 20180611 RGD RGD 1313454 CDH18 HP:0002861 RGD:8554872 IAGP RGD:713864826 H cadherin 18 gene taxon:9606 20260519 ClinVar RGD 1313454 CDH18 HP:0002861 RGD:8554872 IAGP RGD:713864843 H cadherin 18 gene taxon:9606 20260519 ClinVar RGD 1313454 CDH18 HP:0012126 RGD:8554872 IAGP RGD:713787331 H cadherin 18 gene taxon:9606 20260519 ClinVar RGD 1313454 CDH18 HP:0030359 RGD:8554872 IAGP RGD:713864875 H cadherin 18 gene taxon:9606 20260519 ClinVar RGD 1313456 UBL3 HP:0012126 RGD:8554872 IAGP RGD:713802475 H ubiquitin like 3 gene taxon:9606 20260519 ClinVar RGD 1313456 UBL3 HP:0100242 RGD:8554872 IAGP RGD:713865491 H ubiquitin like 3 gene taxon:9606 20260519 ClinVar RGD 1313458 SIGLEC5 HP:0004808 RGD:8554872 IAGP RGD:713824606 H sialic acid binding Ig like lectin 5 gene taxon:9606 20260519 ClinVar RGD 1313458 SIGLEC5 HP:0004808 RGD:8554872 IAGP RGD:713824624 H sialic acid binding Ig like lectin 5 gene taxon:9606 20260519 ClinVar RGD 1313458 SIGLEC5 HP:0012126 RGD:8554872 IAGP RGD:713766983 H sialic acid binding Ig like lectin 5 gene taxon:9606 20260519 ClinVar RGD 1313458 SIGLEC5 HP:0100526 RGD:8554872 IAGP RGD:713869832 H sialic acid binding Ig like lectin 5 gene taxon:9606 20260519 ClinVar RGD 1313458 SIGLEC5 HP:0100526 RGD:8554872 IAGP RGD:713869867 H sialic acid binding Ig like lectin 5 gene taxon:9606 20260519 ClinVar RGD 1313466 TEX14 HP:0000007 MIM:617707|PMID:28206990|RGD:8699517 IAGP H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20250912 HPO RGD 1313466 TEX14 HP:0000027 MIM:617707|ORPHA:399805|PMID:28206990|RGD:8699517 IAGP H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20250912 HPO RGD 1313466 TEX14 HP:0000078 PMID:25741868|RGD:8554872 IAGP RGD:597831964 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20260519 ClinVar RGD 1313466 TEX14 HP:0000078 PMID:25741868|RGD:8554872 IAGP RGD:597831974 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20260519 ClinVar RGD 1313466 TEX14 HP:0000118 ORPHA:399805|RGD:8699517 IAGP H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20230821 HPO RGD 1313466 TEX14 HP:0000837 ORPHA:399805|RGD:8699517 IAGP H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20230821 HPO RGD 1313466 TEX14 HP:0003251 MIM:617707|PMID:28206990|RGD:8699517 IAGP H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20250912 HPO RGD 1313466 TEX14 HP:0004808 RGD:8554872 IAGP RGD:405278931 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20260519 ClinVar RGD 1313466 TEX14 HP:0004808 RGD:8554872 IAGP RGD:713705345 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20260519 ClinVar RGD 1313466 TEX14 HP:0004808 RGD:8554872 IAGP RGD:713709245 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20260519 ClinVar RGD 1313466 TEX14 HP:0007716 RGD:8554872 IAGP RGD:405278931 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20260519 ClinVar RGD 1313466 TEX14 HP:0008669 ORPHA:399805|RGD:8699517 IAGP H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20230821 HPO RGD 1313466 TEX14 HP:0008734 ORPHA:399805|RGD:8699517 IAGP H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20230821 HPO RGD 1313466 TEX14 HP:0011462 MIM:617707|PMID:28206990|RGD:8699517 IAGP H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20250912 HPO RGD 1313466 TEX14 HP:0011797 RGD:8554872 IAGP RGD:713709230 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20260519 ClinVar RGD 1313466 TEX14 HP:0011961 ORPHA:399805|RGD:8699517 IAGP H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20230821 HPO RGD 1313466 TEX14 HP:0011961 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15172576 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20260602 ClinVar RGD 1313466 TEX14 HP:0011961 PMID:25741868|RGD:8554872 IAGP RGD:150455656 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20211012 ClinVar RGD 1313466 TEX14 HP:0011961 PMID:25741868|RGD:8554872 IAGP RGD:150455660 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20211012 ClinVar RGD 1313466 TEX14 HP:0011961 PMID:25741868|RGD:8554872 IAGP RGD:150455667 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20211012 ClinVar RGD 1313466 TEX14 HP:0011961 PMID:25741868|RGD:8554872 IAGP RGD:150455672 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20211012 ClinVar RGD 1313466 TEX14 HP:0011961 PMID:25741868|RGD:8554872 IAGP RGD:150455675 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20211012 ClinVar RGD 1313466 TEX14 HP:0011961 PMID:25741868|RGD:8554872 IAGP RGD:150455680 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20211012 ClinVar RGD 1313466 TEX14 HP:0011961 PMID:25741868|RGD:8554872 IAGP RGD:150455687 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20211012 ClinVar RGD 1313466 TEX14 HP:0011961 PMID:25741868|RGD:8554872 IAGP RGD:150455695 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20211012 ClinVar RGD 1313466 TEX14 HP:0011961 PMID:25741868|RGD:8554872 IAGP RGD:40815812 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20260602 ClinVar RGD 1313466 TEX14 HP:0011962 ORPHA:399805|RGD:8699517 IAGP H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20230821 HPO RGD 1313466 TEX14 HP:0012125 RGD:8554872 IAGP RGD:9687169 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20250708 ClinVar RGD 1313466 TEX14 HP:0012126 RGD:8554872 IAGP RGD:713709245 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20260519 ClinVar RGD 1313466 TEX14 HP:0100242 RGD:8554872 IAGP RGD:714044125 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20260519 ClinVar RGD 1313466 TEX14 HP:0100522 RGD:8554872 IAGP RGD:405278931 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20260519 ClinVar RGD 1313466 TEX14 HP:0100522 RGD:8554872 IAGP RGD:714044025 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20260519 ClinVar RGD 1313466 TEX14 HP:0100522 RGD:8554872 IAGP RGD:714044081 H testis expressed 14, intercellular bridge forming factor gene taxon:9606 20260519 ClinVar RGD 1313468 CDH20 HP:0012126 RGD:8554872 IAGP RGD:714269526 H cadherin 20 gene taxon:9606 20260519 ClinVar RGD 1313468 CDH20 HP:0012126 RGD:8554872 IAGP RGD:714269530 H cadherin 20 gene taxon:9606 20260519 ClinVar RGD 1313468 CDH20 HP:0100242 RGD:8554872 IAGP RGD:713754842 H cadherin 20 gene taxon:9606 20260519 ClinVar RGD 1313468 CDH20 HP:0100526 RGD:8554872 IAGP RGD:713689755 H cadherin 20 gene taxon:9606 20260519 ClinVar RGD 1313470 BEST3 HP:0030153 RGD:8554872 IAGP RGD:714071114 H bestrophin 3 gene taxon:9606 20260519 ClinVar RGD 1313470 BEST3 HP:0030153 RGD:8554872 IAGP RGD:714071131 H bestrophin 3 gene taxon:9606 20260519 ClinVar RGD 1313470 BEST3 HP:0100242 RGD:8554872 IAGP RGD:714071170 H bestrophin 3 gene taxon:9606 20260519 ClinVar RGD 1313470 BEST3 HP:0100526 RGD:8554872 IAGP RGD:714071101 H bestrophin 3 gene taxon:9606 20260519 ClinVar RGD 1313475 PRRG2 HP:0004808 RGD:8554872 IAGP RGD:713826082 H proline rich and Gla domain 2 gene taxon:9606 20260519 ClinVar RGD 1313475 PRRG2 HP:0006770 RGD:8554872 IAGP RGD:713860476 H proline rich and Gla domain 2 gene taxon:9606 20260519 ClinVar RGD 1313475 PRRG2 HP:0006770 RGD:8554872 IAGP RGD:713860491 H proline rich and Gla domain 2 gene taxon:9606 20260519 ClinVar RGD 1313475 PRRG2 HP:0006770 RGD:8554872 IAGP RGD:713860591 H proline rich and Gla domain 2 gene taxon:9606 20260519 ClinVar RGD 1313475 PRRG2 HP:0030153 RGD:8554872 IAGP RGD:713765617 H proline rich and Gla domain 2 gene taxon:9606 20260519 ClinVar RGD 1313475 PRRG2 HP:0100526 RGD:8554872 IAGP RGD:713860624 H proline rich and Gla domain 2 gene taxon:9606 20260519 ClinVar RGD 1313477 LTF HP:0002861 RGD:8554872 IAGP RGD:713577766 H lactotransferrin gene taxon:9606 20260519 ClinVar RGD 1313477 LTF HP:0004808 RGD:8554872 IAGP RGD:713577766 H lactotransferrin gene taxon:9606 20260519 ClinVar RGD 1313477 LTF HP:0004808 RGD:8554872 IAGP RGD:713577792 H lactotransferrin gene taxon:9606 20260519 ClinVar RGD 1313477 LTF HP:0004808 RGD:8554872 IAGP RGD:713740117 H lactotransferrin gene taxon:9606 20260519 ClinVar RGD 1313477 LTF HP:0006770 RGD:8554872 IAGP RGD:713734981 H lactotransferrin gene taxon:9606 20260519 ClinVar RGD 1313477 LTF HP:0006770 RGD:8554872 IAGP RGD:714167327 H lactotransferrin gene taxon:9606 20260519 ClinVar RGD 1313477 LTF HP:0012126 RGD:8554872 IAGP RGD:713936445 H lactotransferrin gene taxon:9606 20260519 ClinVar RGD 1313477 LTF HP:0030153 RGD:8554872 IAGP RGD:713814193 H lactotransferrin gene taxon:9606 20260519 ClinVar RGD 1313477 LTF HP:0100242 RGD:8554872 IAGP RGD:713814144 H lactotransferrin gene taxon:9606 20260519 ClinVar RGD 1313477 LTF HP:0100526 RGD:8554872 IAGP RGD:713814129 H lactotransferrin gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000006 MIM:618454|MIM:618778|PMID:30424743|PMID:31231791|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000020 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000023 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000028 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000035 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243052027 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000046 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000047 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000076 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000089 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000098 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243050499 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000107 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000126 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000153 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000154 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000174 RGD:8554872 IAGP RGD:40888082 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000175 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000175 PMID:25741868|RGD:8554872 IAGP RGD:26903859 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000175 PMID:25741868|RGD:8554872 IAGP RGD:329355236 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000218 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000219 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000252 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000252 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156008096 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000252 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243050499 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:329355236 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:401798386 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:617150555 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000252 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000252 RGD:8554872 IAGP RGD:714043073 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000272 PMID:25741868|RGD:8554872 IAGP RGD:26903859 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000276 PMID:25741868|RGD:8554872 IAGP RGD:243052465 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000276 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000286 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000286 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243052027 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000286 PMID:25741868|RGD:8554872 IAGP RGD:26903859 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000286 PMID:28492532|RGD:8554872 IAGP RGD:40887104 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000306 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000316 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000316 PMID:25741868|RGD:8554872 IAGP RGD:26903859 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000316 PMID:25741868|RGD:8554872 IAGP RGD:401855635 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000316 PMID:25741868|RGD:8554872 IAGP RGD:598166726 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000319 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000319 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243052027 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000322 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000325 PMID:25741868|PMID:30827496|RGD:8554872 IAGP RGD:243052834 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000347 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000347 PMID:25741868|PMID:28492532|PMID:30827496|RGD:8554872 IAGP RGD:150557046 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000347 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151348902 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000358 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000363 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151348902 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000365 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000365 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151348902 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000365 PMID:25741868|PMID:30827496|RGD:8554872 IAGP RGD:243052834 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000366 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000369 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000369 PMID:25741868|PMID:30827496|RGD:8554872 IAGP RGD:243052834 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000369 PMID:25741868|RGD:8554872 IAGP RGD:598166726 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000375 MIM:618778|PMID:31231791|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000377 PMID:25741868|RGD:8554872 IAGP RGD:243052465 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000396 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243052027 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000407 MIM:618778|PMID:31231791|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000414 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000426 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000431 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000431 PMID:25741868|RGD:8554872 IAGP RGD:26903859 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000460 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000463 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000464 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000467 PMID:25741868|RGD:8554872 IAGP RGD:401856550 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000486 PMID:25741868|PMID:28492532|PMID:30827496|RGD:8554872 IAGP RGD:150557046 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000486 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243052027 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000490 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000505 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000508 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000565 PMID:25741868|RGD:8554872 IAGP RGD:150552125 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000574 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000582 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000582 PMID:25741868|RGD:8554872 IAGP RGD:26903859 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000588 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000601 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000657 PMID:25741868|RGD:8554872 IAGP RGD:243058617 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000664 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000687 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000692 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000707 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152978406 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:405866577 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:405866609 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000708 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000708 RGD:8554872 IAGP RGD:405853615 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000708 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000709 MIM:618454|PMID:30424743|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000711 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000712 PMID:25741868|RGD:8554872 IAGP RGD:150552125 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000717 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156008096 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:243058617 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:401855635 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:401924249 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000717 PMID:28492532|RGD:8554872 IAGP RGD:39456936 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000717 PMID:28492532|RGD:8554872 IAGP RGD:42723653 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000717 RGD:8554872 IAGP RGD:405853615 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000718 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000722 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000729 MIM:618454|PMID:30424743|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000729 PMID:25741868|PMID:28492532|PMID:30827496|RGD:8554872 IAGP RGD:150557046 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000729 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243050499 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:329954404 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000729 RGD:8554872 IAGP RGD:150547353 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000729 RGD:8554872 IAGP RGD:150547365 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000729 RGD:8554872 IAGP RGD:405853615 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000736 RGD:8554872 IAGP RGD:150547353 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000736 RGD:8554872 IAGP RGD:150547365 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000736 RGD:8554872 IAGP RGD:405853615 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000738 MIM:618454|PMID:30424743|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000739 RGD:8554872 IAGP RGD:150547353 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000739 RGD:8554872 IAGP RGD:150547365 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000750 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:153001571 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:401855284 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:40887255 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:40887256 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000752 RGD:8554872 IAGP RGD:405853615 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000752 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000776 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0000829 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243052027 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000929 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000953 PMID:25741868|RGD:8554872 IAGP RGD:401855284 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000953 PMID:25741868|RGD:8554872 IAGP RGD:401856550 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000960 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151348902 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000964 RGD:8554872 IAGP RGD:714043073 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0000980 PMID:25741868|RGD:8554872 IAGP RGD:401856550 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001010 PMID:25741868|PMID:30827496|RGD:8554872 IAGP RGD:243052834 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001047 RGD:8554872 IAGP RGD:714043073 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001156 PMID:25741868|RGD:8554872 IAGP RGD:598166726 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001172 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001249 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:329954404 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:401855635 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:401924249 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:617150555 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001249 PMID:28492532|RGD:8554872 IAGP RGD:150338383 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001249 PMID:28492532|RGD:8554872 IAGP RGD:39456936 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001249 PMID:28492532|RGD:8554872 IAGP RGD:42723653 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001249 RGD:8554872 IAGP RGD:153301243 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001249 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001250 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0001250 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152978406 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001250 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243052027 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001250 PMID:25741868|PMID:30827496|RGD:8554872 IAGP RGD:329954410 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:155268274 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:26903859 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:401856550 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:150338383 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001250 RGD:8554872 IAGP RGD:153301243 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:243058617 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001252 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:26903859 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:401924249 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:243052465 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001256 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001263 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0001263 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243052027 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001263 PMID:25741868|PMID:30827496|RGD:8554872 IAGP RGD:243052834 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:150552125 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155268274 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:26903859 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:329355236 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:329954404 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001263 PMID:25741898|RGD:8554872 IAGP RGD:39456589 H transformation/transcription domain associated protein gene taxon:9606 20210323 ClinVar RGD 1313479 TRRAP HP:0001263 RGD:8554872 IAGP RGD:127287824 H transformation/transcription domain associated protein gene taxon:9606 20210706 ClinVar RGD 1313479 TRRAP HP:0001263 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:401855284 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001290 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001320 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0001328 PMID:25741868|PMID:30827496|RGD:8554872 IAGP RGD:329954410 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001328 RGD:8554872 IAGP RGD:714043073 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001344 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0001382 PMID:25741868|PMID:30827496|RGD:8554872 IAGP RGD:243052834 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001382 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001402 RGD:8554872 IAGP RGD:713604126 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001402 RGD:8554872 IAGP RGD:714084404 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001402 RGD:8554872 IAGP RGD:714084412 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001433 PMID:25741868|RGD:8554872 IAGP RGD:401856550 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001508 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001508 RGD:8554872 IAGP RGD:714043073 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001511 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151348902 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001537 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0001539 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0001548 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001558 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001560 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001560 RGD:8554872 IAGP RGD:150547353 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001560 RGD:8554872 IAGP RGD:150547365 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001622 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001622 RGD:8554872 IAGP RGD:150547353 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001622 RGD:8554872 IAGP RGD:150547365 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001629 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0001631 PMID:25741868|RGD:8554872 IAGP RGD:598166726 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001638 PMID:25741868|PMID:28492532|PMID:30827496|RGD:8554872 IAGP RGD:150557046 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001643 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0001643 PMID:25741868|RGD:8554872 IAGP RGD:598166726 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001655 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0001680 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0001761 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001773 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0001787 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001792 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0001935 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001999 PMID:25741868|PMID:28492532|PMID:30827496|RGD:8554872 IAGP RGD:150557046 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001999 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151348902 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:155268274 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:598166726 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002007 PMID:25741868|RGD:8554872 IAGP RGD:26903859 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002015 PMID:25741868|PMID:28492532|PMID:30827496|RGD:8554872 IAGP RGD:150557046 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002071 PMID:25741868|RGD:8554872 IAGP RGD:243058617 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002079 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0002079 PMID:25741868|RGD:8554872 IAGP RGD:150552125 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002086 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002092 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0002094 PMID:25741868|RGD:8554872 IAGP RGD:401856550 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002119 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0002119 PMID:25741868|RGD:8554872 IAGP RGD:26903859 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002120 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0002126 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0002164 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0002167 RGD:8554872 IAGP RGD:405853615 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002187 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002188 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0002194 MIM:618454|PMID:30424743|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0002194 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002197 PMID:25741868|RGD:8554872 IAGP RGD:401924249 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002236 PMID:25741868|RGD:8554872 IAGP RGD:243052465 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002342 PMID:25741868|PMID:28492532|PMID:30827496|RGD:8554872 IAGP RGD:150557046 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002342 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002353 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152978406 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002353 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002353 PMID:25741868|RGD:8554872 IAGP RGD:401855284 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002376 PMID:25741868|RGD:8554872 IAGP RGD:401856550 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002381 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002384 PMID:25741868|RGD:8554872 IAGP RGD:243058617 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002395 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0002463 PMID:25741868|RGD:8554872 IAGP RGD:401798386 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002465 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0002465 RGD:8554872 IAGP RGD:405853615 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002493 PMID:25741868|RGD:8554872 IAGP RGD:405866748 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002538 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002553 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0002553 PMID:25741868|RGD:8554872 IAGP RGD:243052465 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002558 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0002650 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0002650 PMID:25741868|RGD:8554872 IAGP RGD:243052465 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002665 RGD:8554872 IAGP RGD:714122923 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002686 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002719 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002861 RGD:8554872 IAGP RGD:713658346 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002861 RGD:8554872 IAGP RGD:714075635 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0002861 RGD:8554872 IAGP RGD:714075710 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0003011 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0003196 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0003196 PMID:25741868|RGD:8554872 IAGP RGD:26903859 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0004209 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0004322 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:150552125 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0004322 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0004325 RGD:8554872 IAGP RGD:714043073 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0004482 PMID:25741868|RGD:8554872 IAGP RGD:243052465 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0004808 PMID:28492532|RGD:8554872 IAGP RGD:156196044 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0004808 RGD:8554872 IAGP RGD:713604109 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0004808 RGD:8554872 IAGP RGD:713604137 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0004808 RGD:8554872 IAGP RGD:713604189 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0005280 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0005280 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243052027 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0005280 PMID:25741868|RGD:8554872 IAGP RGD:26903859 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0005484 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0005709 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0006237 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0006481 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0006770 RGD:8554872 IAGP RGD:714075537 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0006770 RGD:8554872 IAGP RGD:714075579 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0007018 RGD:8554872 IAGP RGD:405853615 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0007256 PMID:25741868|RGD:8554872 IAGP RGD:243058617 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0007359 PMID:25741868|RGD:8554872 IAGP RGD:401924249 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0007360 PMID:25741868|RGD:8554872 IAGP RGD:243058617 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0007366 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0007370 PMID:25741868|RGD:8554872 IAGP RGD:26903859 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0007375 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0007925 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0008755 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0008760 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0008872 RGD:8554872 IAGP RGD:40886644 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0009792 PMID:25741868|RGD:8554872 IAGP RGD:329354931 H transformation/transcription domain associated protein gene taxon:9606 20240611 ClinVar RGD 1313479 TRRAP HP:0009800 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243052027 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0010780 PMID:25741868|RGD:8554872 IAGP RGD:153001571 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0010780 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0010862 MIM:618454|PMID:30424743|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0010863 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0010865 PMID:25741868|RGD:8554872 IAGP RGD:38466180 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0010881 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0010881 RGD:8554872 IAGP RGD:150547353 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0010881 RGD:8554872 IAGP RGD:150547365 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0011081 PMID:25741868|RGD:8554872 IAGP RGD:243052465 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0011220 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0011231 PMID:25741868|RGD:8554872 IAGP RGD:243052465 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0011293 PMID:25741868|PMID:30827496|RGD:8554872 IAGP RGD:329954410 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0011342 PMID:25741868|RGD:8554872 IAGP RGD:401798386 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0011342 PMID:25741868|RGD:8554872 IAGP RGD:617150555 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0011343 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0011438 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0011446 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0011462 MIM:618778|PMID:31231791|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0011463 MIM:618454|PMID:30424743|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0011797 RGD:8554872 IAGP RGD:713600394 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0011968 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0011968 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151348902 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0011968 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0012088 PMID:25741868|RGD:8554872 IAGP RGD:153001571 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0012125 RGD:8554872 IAGP RGD:9686933 H transformation/transcription domain associated protein gene taxon:9606 20250708 ClinVar RGD 1313479 TRRAP HP:0012126 RGD:8554872 IAGP RGD:713666580 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0012126 RGD:8554872 IAGP RGD:713666599 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0012126 RGD:8554872 IAGP RGD:713666609 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0012126 RGD:8554872 IAGP RGD:713666618 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0012469 PMID:25741868|RGD:8554872 IAGP RGD:401855284 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:243058617 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0012758 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0012758 RGD:8554872 IAGP RGD:40887369 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0012759 PMID:25741868|RGD:8554872 IAGP RGD:401855635 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0012759 RGD:8554872 IAGP RGD:714043073 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0030153 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:405220265 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0030153 PMID:25741868|RGD:8554872 IAGP RGD:150511726 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0030153 RGD:8554872 IAGP RGD:713658335 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0030153 RGD:8554872 IAGP RGD:713658365 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0030260 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313479 TRRAP HP:0030359 RGD:8554872 IAGP RGD:714075433 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0030359 RGD:8554872 IAGP RGD:714075649 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0031466 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0031936 MIM:618454|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20230821 HPO RGD 1313479 TRRAP HP:0033127 PMID:25741868|RGD:8554872 IAGP RGD:408368256 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0033676 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0040080 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243052027 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0040195 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0040195 RGD:8554872 IAGP RGD:714043073 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0045025 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151348902 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100022 PMID:25741868|RGD:8554872 IAGP RGD:401924249 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100242 RGD:8554872 IAGP RGD:713597150 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100242 RGD:8554872 IAGP RGD:713666569 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100242 RGD:8554872 IAGP RGD:713666635 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100242 RGD:8554872 IAGP RGD:713666678 H transformation/transcription domain associated protein gene taxon:9606 20260707 ClinVar RGD 1313479 TRRAP HP:0100242 RGD:8554872 IAGP RGD:713989045 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100242 RGD:8554872 IAGP RGD:714075385 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100522 PMID:25741868|RGD:8554872 IAGP RGD:150511726 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100522 RGD:8554872 IAGP RGD:713658365 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100522 RGD:8554872 IAGP RGD:713666678 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100522 RGD:8554872 IAGP RGD:714075609 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100522 RGD:8554872 IAGP RGD:714075622 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100526 RGD:8554872 IAGP RGD:713666658 H transformation/transcription domain associated protein gene taxon:9606 20260707 ClinVar RGD 1313479 TRRAP HP:0100526 RGD:8554872 IAGP RGD:714075323 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100543 PMID:25741868|RGD:8554872 IAGP RGD:26903859 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100543 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100543 RGD:8554872 IAGP RGD:405853863 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100767 PMID:28492532|RGD:8554872 IAGP RGD:156339061 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100767 RGD:8554872 IAGP RGD:150547353 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0100767 RGD:8554872 IAGP RGD:150547365 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0200134 PMID:25741868|RGD:8554872 IAGP RGD:401855284 H transformation/transcription domain associated protein gene taxon:9606 20260519 ClinVar RGD 1313479 TRRAP HP:0410030 MIM:618454|PMID:30827496|RGD:8699517 IAGP H transformation/transcription domain associated protein gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000007 MIM:236670|MIM:613150|MIM:613156|MIM:613158|PMID:15894594|PMID:17634419|PMID:17878207|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000028 MIM:236670|MIM:613156|ORPHA:370968|ORPHA:899|PMID:15637732|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000050 MIM:236670|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000054 MIM:613156|ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0000080 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0000110 MIM:236670|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000158 MIM:613150|MIM:613156|ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0000175 MIM:236670|MIM:613150|ORPHA:899|PMID:15894594|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000176 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000193 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000194 MIM:613156|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000204 MIM:236670|MIM:613150|PMID:15894594|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000238 MIM:236670|MIM:613150|ORPHA:370959|ORPHA:588|ORPHA:899|PMID:15637732|PMID:15894594|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000248 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151824910 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0000248 PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:8657649 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0000252 MIM:236670|MIM:613150|MIM:613156|ORPHA:370959|ORPHA:370968|ORPHA:899|PMID:15637732|PMID:17634419|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000256 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000298 MIM:236670|PMID:15037715|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000340 MIM:236670|PMID:15637732|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000347 MIM:236670|PMID:15637732|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000358 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000369 MIM:236670|ORPHA:899|PMID:15637732|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000369 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151824910 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0000369 PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:8657649 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0000411 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000413 MIM:236670|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000478 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000482 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000485 MIM:236670|ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0000486 MIM:613156|ORPHA:370959|ORPHA:370968|ORPHA:588|PMID:17634419|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000501 MIM:236670|MIM:613150|ORPHA:588|ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0000505 ORPHA:588|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000518 MIM:236670|MIM:613150|ORPHA:370959|ORPHA:588|ORPHA:899|PMID:15894594|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000519 PMID:25741868|RGD:8554872 IAGP RGD:152999339 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0000525 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000528 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000540 MIM:613150|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000541 MIM:236670|ORPHA:370959|ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0000545 MIM:236670|MIM:613150|MIM:613156|ORPHA:370959|ORPHA:370968|ORPHA:588|PMID:17634419|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0000556 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000557 MIM:236670|MIM:613150|PMID:15894594|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000568 MIM:236670|MIM:613150|ORPHA:370959|ORPHA:899|PMID:15037715|PMID:15894594|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000568 PMID:25741868|RGD:8554872 IAGP RGD:152999339 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0000580 MIM:613156|ORPHA:370968|PMID:17634419|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000587 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000589 MIM:236670|ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0000609 MIM:236670|ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0000612 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000618 MIM:236670|ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0000648 MIM:236670|ORPHA:370959|ORPHA:588|ORPHA:899|PMID:15637732|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000659 MIM:236670|MIM:613150|PMID:15894594|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0000692 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0000692 RGD:8554872 IAGP RGD:14746842 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0000707 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0000716 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0000736 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0000826 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0000924 PMID:25741868|RGD:8554872 IAGP RGD:401948721 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0000975 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0001075 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0001105 MIM:236670|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001249 ORPHA:370968|ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0001249 PMID:17878207|PMID:17923109|PMID:25214167|PMID:25741868|PMID:27447704|PMID:28492532|PMID:30060766|PMID:32528171|PMID:33176815|PMID:34413876|PMID:36797079|RGD:8554872 IAGP RGD:8557291 H protein O-mannosyltransferase 2 gene taxon:9606 20260707 ClinVar RGD 1313480 POMT2 HP:0001250 MIM:236670|MIM:613150|ORPHA:370959|ORPHA:588|ORPHA:899|PMID:15637732|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0001252 MIM:236670|MIM:613156|ORPHA:588|ORPHA:899|PMID:17634419|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0001256 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001262 MIM:236670|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001263 MIM:236670|ORPHA:206559|ORPHA:370959|ORPHA:370968|ORPHA:899|PMID:15037715|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0001265 MIM:613156|ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0001270 MIM:613156|MIM:613158|ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0001274 MIM:236670|MIM:613150|ORPHA:370959|ORPHA:899|PMID:15894594|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0001276 ORPHA:588|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001284 MIM:613156|ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0001288 ORPHA:206559|ORPHA:588|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0001290 MIM:613156|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:152999339 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0001290 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0001302 MIM:236670|MIM:613150|ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0001305 MIM:236670|ORPHA:899|PMID:15637732|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0001305 PMID:25741868|RGD:8554872 IAGP RGD:152999339 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0001315 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001317 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001319 MIM:236670|PMID:15037715|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0001319 PMID:19138766|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8557295 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0001320 MIM:613156|ORPHA:370968|PMID:17634419|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0001320 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151824910 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0001320 PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:8657649 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0001321 MIM:236670|MIM:613150|MIM:613156|ORPHA:370959|ORPHA:370968|ORPHA:899|PMID:15037715|PMID:15894594|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0001324 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001328 ORPHA:206559|ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0001331 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001339 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001344 MIM:236670|PMID:15037715|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0001347 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001360 ORPHA:588|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001371 MIM:613156|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001382 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0001460 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001469 RGD:8554872 IAGP RGD:150330446 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0001522 MIM:613150|PMID:15894594|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0001608 ORPHA:588|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001638 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001643 PMID:25741868|RGD:8554872 IAGP RGD:152999339 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0001644 ORPHA:206559|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001712 MIM:613156|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0001787 RGD:8554872 IAGP RGD:150330446 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002023 MIM:236670|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002031 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002079 MIM:236670|MIM:613156|ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0002084 MIM:613150|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002085 MIM:236670|ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0002093 MIM:613156|ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0002119 MIM:236670|MIM:613150|MIM:613156|ORPHA:206559|ORPHA:370959|ORPHA:370968|ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0002119 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151824910 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002119 PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:8657649 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002119 PMID:25741868|RGD:8554872 IAGP RGD:152999339 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002120 MIM:613156|ORPHA:370968|PMID:17634419|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0002126 MIM:236670|ORPHA:370959|ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0002167 ORPHA:588|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002169 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002187 MIM:236670|MIM:613150|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20260209 HPO RGD 1313480 POMT2 HP:0002194 ORPHA:206559|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002198 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002240 PMID:25741868|RGD:8554872 IAGP RGD:152999339 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002269 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002282 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002321 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002334 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002350 MIM:613150|ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0002350 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151824910 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002350 PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:8657649 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002353 ORPHA:588|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002363 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002365 MIM:236670|MIM:613150|ORPHA:370959|PMID:15037715|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0002410 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151824910 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002410 PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:8657649 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002435 ORPHA:588|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002465 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002505 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002518 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002536 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002538 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151824910 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002538 PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:8657649 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002540 MIM:613156|ORPHA:206559|PMID:17634419|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0002577 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002577 RGD:8554872 IAGP RGD:150330446 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002579 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002650 MIM:613150|MIM:613156|ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002803 MIM:236670|MIM:613150|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0002827 MIM:613156|ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0002828 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002861 RGD:8554872 IAGP RGD:713542634 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0002878 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002938 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0002951 MIM:613150|PMID:15894594|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0002987 PMID:25741868|RGD:8554872 IAGP RGD:152999339 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0003002 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11621582 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0003011 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0003198 ORPHA:588|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0003202 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0003236 MIM:236670|MIM:613150|MIM:613156|MIM:613158|ORPHA:206559|ORPHA:370959|ORPHA:370968|ORPHA:588|PMID:15037715|PMID:15637732|PMID:15894594|PMID:17878207|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0003236 PMID:19138766|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8557295 H protein O-mannosyltransferase 2 gene taxon:9606 20260707 ClinVar RGD 1313480 POMT2 HP:0003236 RGD:8554872 IAGP RGD:155265931 H protein O-mannosyltransferase 2 gene taxon:9606 20260707 ClinVar RGD 1313480 POMT2 HP:0003306 MIM:613150|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0003307 MIM:613156|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0003324 MIM:613156|PMID:17634419|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0003325 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0003327 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0003457 ORPHA:588|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0003549 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0003551 ORPHA:206559|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0003557 MIM:613150|PMID:15894594|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0003560 MIM:236670|MIM:613150|MIM:613156|MIM:613158|ORPHA:370959|ORPHA:899|PMID:15894594|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0003560 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10406816 H protein O-mannosyltransferase 2 gene taxon:9606 20250729 ClinVar RGD 1313480 POMT2 HP:0003560 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11621582 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0003560 PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:27854218|PMID:28492532|RGD:8554872 IAGP RGD:8557283 H protein O-mannosyltransferase 2 gene taxon:9606 20260707 ClinVar RGD 1313480 POMT2 HP:0003560 PMID:19138766|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8557295 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0003560 RGD:8554872 IAGP RGD:9691377 H protein O-mannosyltransferase 2 gene taxon:9606 20250729 ClinVar RGD 1313480 POMT2 HP:0003577 MIM:236670|MIM:613150|MIM:613156|PMID:15637732|PMID:15894594|PMID:17634419|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0003593 MIM:613158|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0003691 ORPHA:206559|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0003697 ORPHA:206559|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0003701 MIM:613156|MIM:613158|ORPHA:370959|PMID:17878207|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0003701 PMID:19138766|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8557295 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0003707 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0003712 MIM:613150|MIM:613156|MIM:613158|ORPHA:370959|ORPHA:370968|PMID:17878207|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0004374 ORPHA:588|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0004488 PMID:25741868|RGD:8554872 IAGP RGD:152999339 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0004637 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0004808 RGD:8554872 IAGP RGD:714162542 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0004808 RGD:8554872 IAGP RGD:714165192 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0006380 PMID:25741868|RGD:8554872 IAGP RGD:152999339 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0006483 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0006785 ORPHA:206559|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0006829 MIM:236670|MIM:613150|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0006882 PMID:25741868|RGD:8554872 IAGP RGD:152999339 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0006888 MIM:236670|PMID:15037715|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0006899 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0006913 ORPHA:206559|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0006955 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0006955 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151824910 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0006955 PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:8657649 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0007015 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0007033 MIM:236670|MIM:613150|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0007082 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151824910 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0007082 PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:8657649 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0007126 ORPHA:206559|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0007204 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0007256 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0007260 MIM:236670|MIM:613150|ORPHA:370959|PMID:12369018|PMID:15037715|PMID:15894594|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0007291 MIM:236670|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0007360 ORPHA:588|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0007361 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0007731 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0007957 MIM:236670|ORPHA:899|PMID:15037715|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0007973 MIM:236670|ORPHA:899|PMID:15637732|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0008443 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0008551 MIM:236670|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0008736 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0008872 MIM:236670|PMID:15637732|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0008947 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0008981 ORPHA:206559|ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0009917 MIM:613150|PMID:15894594|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0010508 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0010628 MIM:613156|ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0010864 MIM:236670|MIM:613150|MIM:613156|ORPHA:370968|PMID:17634419|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20260209 HPO RGD 1313480 POMT2 HP:0010881 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151824910 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0010881 PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:8657649 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0010946 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151824910 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0010946 PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:8657649 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0011443 RGD:8554872 IAGP RGD:150330446 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0011463 MIM:613158|PMID:17878207|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0011712 MIM:613158|ORPHA:206559|PMID:17878207|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0011797 RGD:8554872 IAGP RGD:714162547 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:11637573 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0011804 RGD:8554872 IAGP RGD:150330446 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0011968 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0012110 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0012400 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0012443 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0012443 PMID:25741868|RGD:8554872 IAGP RGD:14696627 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0012443 PMID:26539891|RGD:8554872 IAGP RGD:12858891 H protein O-mannosyltransferase 2 gene taxon:9606 20210323 ClinVar RGD 1313480 POMT2 HP:0012695 ORPHA:370959|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0012793 MIM:236670|PMID:15637732|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0012793 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151824910 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0012793 PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:8657649 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0025169 MIM:613156|ORPHA:206559|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0030046 ORPHA:370959|ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0030099 ORPHA:206559|ORPHA:370959|ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0030099 PMID:19138766|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8557295 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0030153 RGD:8554872 IAGP RGD:150503230 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0030153 RGD:8554872 IAGP RGD:713542565 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0030197 ORPHA:206559|ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0031882 MIM:236670|PMID:15637732|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250912 HPO RGD 1313480 POMT2 HP:0033127 PMID:25741868|RGD:8554872 IAGP RGD:405855040 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0033725 PMID:15894594|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151824910 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0033725 PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:8657649 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0040081 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0040173 ORPHA:370968|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0045040 ORPHA:899|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0100022 ORPHA:588|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20230821 HPO RGD 1313480 POMT2 HP:0100242 RGD:8554872 IAGP RGD:150503230 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0100242 RGD:8554872 IAGP RGD:713542604 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0100522 RGD:8554872 IAGP RGD:28885586 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0100526 RGD:8554872 IAGP RGD:713542574 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313480 POMT2 HP:0100543 ORPHA:206559|ORPHA:588|RGD:8699517 IAGP H protein O-mannosyltransferase 2 gene taxon:9606 20250416 HPO RGD 1313480 POMT2 HP:0410009 RGD:8554872 IAGP RGD:150330446 H protein O-mannosyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1313482 TRIM11 HP:0004808 RGD:8554872 IAGP RGD:714043687 H tripartite motif containing 11 gene taxon:9606 20260519 ClinVar RGD 1313482 TRIM11 HP:0007716 RGD:8554872 IAGP RGD:714043687 H tripartite motif containing 11 gene taxon:9606 20260519 ClinVar RGD 1313482 TRIM11 HP:0030153 RGD:8554872 IAGP RGD:714043687 H tripartite motif containing 11 gene taxon:9606 20260519 ClinVar RGD 1313482 TRIM11 HP:0100522 RGD:8554872 IAGP RGD:714043687 H tripartite motif containing 11 gene taxon:9606 20260519 ClinVar RGD 1313482 TRIM11 HP:0100615 RGD:8554872 IAGP RGD:713671968 H tripartite motif containing 11 gene taxon:9606 20260519 ClinVar RGD 1313488 CCT8 HP:0004808 RGD:8554872 IAGP RGD:713963529 H chaperonin containing TCP1 subunit 8 gene taxon:9606 20260519 ClinVar RGD 1313488 CCT8 HP:0006725 RGD:8554872 IAGP RGD:713854548 H chaperonin containing TCP1 subunit 8 gene taxon:9606 20260519 ClinVar RGD 1313488 CCT8 HP:0012126 RGD:8554872 IAGP RGD:713782553 H chaperonin containing TCP1 subunit 8 gene taxon:9606 20260519 ClinVar RGD 1313488 CCT8 HP:0012126 RGD:8554872 IAGP RGD:713963523 H chaperonin containing TCP1 subunit 8 gene taxon:9606 20260519 ClinVar RGD 1313488 CCT8 HP:0100522 RGD:8554872 IAGP RGD:713854702 H chaperonin containing TCP1 subunit 8 gene taxon:9606 20260519 ClinVar RGD 1313491 PSMG1 HP:0001402 RGD:8554872 IAGP RGD:713735657 H proteasome assembly chaperone 1 gene taxon:9606 20260519 ClinVar RGD 1313491 PSMG1 HP:0100522 RGD:8554872 IAGP RGD:713863353 H proteasome assembly chaperone 1 gene taxon:9606 20260519 ClinVar RGD 1313491 PSMG1 HP:0100526 RGD:8554872 IAGP RGD:713863284 H proteasome assembly chaperone 1 gene taxon:9606 20260519 ClinVar RGD 1313491 PSMG1 HP:0100526 RGD:8554872 IAGP RGD:713967605 H proteasome assembly chaperone 1 gene taxon:9606 20260519 ClinVar RGD 1313494 TFCP2L1 HP:0012622 PMID:33097957|RGD:8554872 IAGP RGD:151733570 H transcription factor CP2 like 1 gene taxon:9606 20220420 ClinVar RGD 1313494 TFCP2L1 HP:0100242 RGD:8554872 IAGP RGD:713710264 H transcription factor CP2 like 1 gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000006 MIM:114480|MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20251023 HPO RGD 1313498 PPM1D HP:0000098 PMID:25741868|RGD:8554872 IAGP RGD:405694248 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000154 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0000154 PMID:25741868|RGD:8554872 IAGP RGD:152999545 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000154 PMID:25741868|RGD:8554872 IAGP RGD:405867447 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000160 PMID:25741868|RGD:8554872 IAGP RGD:155268345 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000189 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000207 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000212 PMID:25741868|RGD:8554872 IAGP RGD:152999545 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000219 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0000233 PMID:25741868|RGD:8554872 IAGP RGD:155268345 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:152999545 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:405694248 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000286 PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572|RGD:8554872 IAGP RGD:13482132 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000286 PMID:25741868|RGD:8554872 IAGP RGD:405867447 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000316 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000316 PMID:25741868|RGD:8554872 IAGP RGD:155268345 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000327 PMID:25741868|RGD:8554872 IAGP RGD:152999545 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000337 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0000337 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000337 PMID:25741868|RGD:8554872 IAGP RGD:405867447 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000358 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0000358 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:155268345 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000369 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0000369 PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572|RGD:8554872 IAGP RGD:13482132 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000377 PMID:25741868|RGD:8554872 IAGP RGD:152999545 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000431 PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572|RGD:8554872 IAGP RGD:13482132 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000431 PMID:25741868|RGD:8554872 IAGP RGD:152999545 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000431 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000463 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0000463 PMID:25741868|RGD:8554872 IAGP RGD:405867447 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000470 PMID:25741868|RGD:8554872 IAGP RGD:155268345 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000483 PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572|RGD:8554872 IAGP RGD:13482132 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260616 ClinVar RGD 1313498 PPM1D HP:0000484 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000486 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0000486 PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572|RGD:8554872 IAGP RGD:13482132 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260616 ClinVar RGD 1313498 PPM1D HP:0000486 PMID:25741868|RGD:8554872 IAGP RGD:405867447 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000540 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0000540 PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572|RGD:8554872 IAGP RGD:13482132 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260616 ClinVar RGD 1313498 PPM1D HP:0000540 PMID:25741868|RGD:8554872 IAGP RGD:405867447 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000574 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000582 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000639 PMID:17932621|PMID:23649806|PMID:23907125|PMID:24262437|PMID:24880341|PMID:25741868|PMID:27713908|PMID:27993330|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:30216591|PMID:30388424|PMID:30850729|PMID:33057194|PMID:34312540|PMID:35982159|PMID:37183572|PMID:37709843|RGD:8554872 IAGP RGD:14395789 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260616 ClinVar RGD 1313498 PPM1D HP:0000664 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000687 PMID:25741868|RGD:8554872 IAGP RGD:152999545 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000708 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:405694248 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000717 PMID:28492532|RGD:8554872 IAGP RGD:151662308 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000718 PMID:28492532|RGD:8554872 IAGP RGD:151662308 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000719 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000722 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0000722 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000729 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0000736 PMID:25741868|RGD:8554872 IAGP RGD:152999545 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000738 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000739 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0000739 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000750 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260209 HPO RGD 1313498 PPM1D HP:0000752 PMID:28492532|RGD:8554872 IAGP RGD:151662308 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000821 PMID:25741868|RGD:8554872 IAGP RGD:155268345 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000824 PMID:25741868|RGD:8554872 IAGP RGD:155268345 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0000960 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001156 MIM:617450|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20230821 HPO RGD 1313498 PPM1D HP:0001249 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260209 HPO RGD 1313498 PPM1D HP:0001249 PMID:25741868|PMID:28343630|PMID:28492532|RGD:8554872 IAGP RGD:155267125 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:12905095 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260602 ClinVar RGD 1313498 PPM1D HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:405694248 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001249 PMID:28492532|RGD:8554872 IAGP RGD:151662308 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:401855480 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001252 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260209 HPO RGD 1313498 PPM1D HP:0001252 PMID:17932621|PMID:23649806|PMID:23907125|PMID:24262437|PMID:24880341|PMID:25741868|PMID:27713908|PMID:27993330|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:30216591|PMID:30388424|PMID:30850729|PMID:33057194|PMID:34312540|PMID:35982159|PMID:37183572|PMID:37709843|RGD:8554872 IAGP RGD:14395789 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260616 ClinVar RGD 1313498 PPM1D HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:598232602 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001256 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001257 PMID:25741868|RGD:8554872 IAGP RGD:12905095 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260602 ClinVar RGD 1313498 PPM1D HP:0001263 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260209 HPO RGD 1313498 PPM1D HP:0001263 PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572|RGD:8554872 IAGP RGD:13482132 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260616 ClinVar RGD 1313498 PPM1D HP:0001263 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:152999545 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155268345 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:401855480 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:405867447 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001266 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:155268345 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001317 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001344 PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572|RGD:8554872 IAGP RGD:13482132 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260616 ClinVar RGD 1313498 PPM1D HP:0001344 PMID:28492532|RGD:8554872 IAGP RGD:151662308 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001357 PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572|RGD:8554872 IAGP RGD:13482132 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260616 ClinVar RGD 1313498 PPM1D HP:0001382 PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572|RGD:8554872 IAGP RGD:13482132 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001392 PMID:17932621|PMID:23649806|PMID:23907125|PMID:24262437|PMID:24880341|PMID:25741868|PMID:27713908|PMID:27993330|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:30216591|PMID:30388424|PMID:30850729|PMID:33057194|PMID:34312540|PMID:35982159|PMID:37183572|PMID:37709843|RGD:8554872 IAGP RGD:14395789 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260616 ClinVar RGD 1313498 PPM1D HP:0001402 RGD:8554872 IAGP RGD:713730839 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001438 PMID:25741868|RGD:8554872 IAGP RGD:155268345 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001442 MIM:114480|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20230821 HPO RGD 1313498 PPM1D HP:0001510 PMID:25741868|RGD:8554872 IAGP RGD:152999545 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001510 PMID:25741868|RGD:8554872 IAGP RGD:155268345 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001511 PMID:17932621|PMID:23649806|PMID:23907125|PMID:24262437|PMID:24880341|PMID:25741868|PMID:27713908|PMID:27993330|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:30216591|PMID:30388424|PMID:30850729|PMID:33057194|PMID:34312540|PMID:35982159|PMID:37183572|PMID:37709843|RGD:8554872 IAGP RGD:14395789 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260616 ClinVar RGD 1313498 PPM1D HP:0001513 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001601 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0001629 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0001631 PMID:28492532|RGD:8554872 IAGP RGD:151662308 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001647 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0001763 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001773 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0001773 PMID:25741868|RGD:8554872 IAGP RGD:152999545 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0001792 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:401855480 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0002002 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0002007 PMID:25741868|RGD:8554872 IAGP RGD:405867447 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0002013 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0002019 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0002020 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0002136 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0002194 PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572|RGD:8554872 IAGP RGD:13482132 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0002268 PMID:25741868|RGD:8554872 IAGP RGD:12905095 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260602 ClinVar RGD 1313498 PPM1D HP:0002342 PMID:25741868|RGD:8554872 IAGP RGD:152999545 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0002360 PMID:25741868|RGD:8554872 IAGP RGD:401855480 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0002360 PMID:28492532|RGD:8554872 IAGP RGD:151662308 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0002474 PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572|RGD:8554872 IAGP RGD:13482132 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0002697 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0002719 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0003002 MIM:114480|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20230821 HPO RGD 1313498 PPM1D HP:0003307 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0003452 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0004209 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0004305 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0004322 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:152999545 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:405867447 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0004808 RGD:8554872 IAGP RGD:713701920 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0004971 PMID:28492532|RGD:8554872 IAGP RGD:151662308 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0005278 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0005280 PMID:25741868|RGD:8554872 IAGP RGD:155268345 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0006863 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0007018 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0007018 PMID:25741868|RGD:8554872 IAGP RGD:401855480 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0007099 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0008050 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0008081 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0008394 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0008689 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0009815 PMID:25741868|RGD:8554872 IAGP RGD:155268345 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0009911 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0010558 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0010747 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0010761 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0010780 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0010804 PMID:25741868|RGD:8554872 IAGP RGD:405867447 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0010805 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0010865 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0011310 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0011343 PMID:25741868|RGD:8554872 IAGP RGD:12905095 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260602 ClinVar RGD 1313498 PPM1D HP:0011968 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0011968 PMID:25741868|RGD:8554872 IAGP RGD:405867447 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0012126 RGD:8554872 IAGP RGD:714143563 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0012366 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0012368 PMID:25741868|RGD:8554872 IAGP RGD:405694248 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0012463 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0012471 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:153348473 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20220906 ClinVar RGD 1313498 PPM1D HP:0025195 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0030215 PMID:25741868|RGD:8554872 IAGP RGD:401855480 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0040082 PMID:25741868|RGD:8554872 IAGP RGD:152999545 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0100242 RGD:8554872 IAGP RGD:713701920 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0100242 RGD:8554872 IAGP RGD:714045569 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0100522 RGD:8554872 IAGP RGD:713701920 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0100526 RGD:8554872 IAGP RGD:714045578 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0100615 PMID:25741868|RGD:8554872 IAGP RGD:243054572 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20230411 ClinVar RGD 1313498 PPM1D HP:0100716 PMID:25741868|RGD:8554872 IAGP RGD:25318776 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0100851 PMID:25741868|PMID:28343630|RGD:8554872 IAGP RGD:713493884 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0200055 MIM:617450|PMID:28343630|RGD:8699517 IAGP H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20250912 HPO RGD 1313498 PPM1D HP:0200055 PMID:25741868|RGD:8554872 IAGP RGD:152999545 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313498 PPM1D HP:0200055 PMID:25741868|RGD:8554872 IAGP RGD:155268345 H protein phosphatase, Mg2+/Mn2+ dependent 1D gene taxon:9606 20260519 ClinVar RGD 1313500 TP53BP2 HP:0002861 PMID:28492532|RGD:8554872 IAGP RGD:15168989 H tumor protein p53 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313500 TP53BP2 HP:0002861 RGD:8554872 IAGP RGD:713379975 H tumor protein p53 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313500 TP53BP2 HP:0002861 RGD:8554872 IAGP RGD:713381792 H tumor protein p53 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313500 TP53BP2 HP:0002861 RGD:8554872 IAGP RGD:714020071 H tumor protein p53 binding protein 2 gene taxon:9606 20260707 ClinVar RGD 1313500 TP53BP2 HP:0004808 RGD:8554872 IAGP RGD:713732809 H tumor protein p53 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313500 TP53BP2 HP:0004808 RGD:8554872 IAGP RGD:714096381 H tumor protein p53 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313500 TP53BP2 HP:0007716 RGD:8554872 IAGP RGD:713785500 H tumor protein p53 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313500 TP53BP2 HP:0030359 RGD:8554872 IAGP RGD:713379140 H tumor protein p53 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313500 TP53BP2 HP:0030359 RGD:8554872 IAGP RGD:713380975 H tumor protein p53 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313500 TP53BP2 HP:0100242 PMID:28492532|RGD:8554872 IAGP RGD:15168989 H tumor protein p53 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313500 TP53BP2 HP:0100242 RGD:8554872 IAGP RGD:713379494 H tumor protein p53 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313500 TP53BP2 HP:0100526 PMID:28492532|RGD:8554872 IAGP RGD:15168989 H tumor protein p53 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313500 TP53BP2 HP:0100526 RGD:8554872 IAGP RGD:713379285 H tumor protein p53 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0000007 MIM:616281|PMID:25758935|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0000218 MIM:616281|PMID:25758935|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0000252 MIM:616281|ORPHA:477673|PMID:25758935|PMID:27601654|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:153347012 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:405688395 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0000252 RGD:8554872 IAGP RGD:405291164 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0000286 MIM:616281|PMID:25758935|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0000341 MIM:616281|ORPHA:477673|PMID:25758935|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0000358 MIM:616281|PMID:25758935|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0000369 MIM:616281|ORPHA:477673|PMID:25758935|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0000601 MIM:616281|ORPHA:477673|PMID:25758935|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0000664 RGD:8554872 IAGP RGD:405291164 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0000718 RGD:8554872 IAGP RGD:15015006 H glutamic--pyruvic transaminase 2 gene taxon:9606 20210323 ClinVar RGD 1313502 GPT2 HP:0000750 ORPHA:477673|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20230821 HPO RGD 1313502 GPT2 HP:0001249 MIM:616281|ORPHA:477673|PMID:27601654|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:151661455 H glutamic--pyruvic transaminase 2 gene taxon:9606 20220308 ClinVar RGD 1313502 GPT2 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:153347012 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001250 MIM:616281|ORPHA:477673|PMID:27601654|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:153347012 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:401722673 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:401855742 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:405688395 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001252 MIM:616281|PMID:27601654|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0001257 MIM:616281|PMID:27601654|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0001258 ORPHA:477673|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20230821 HPO RGD 1313502 GPT2 HP:0001260 MIM:616281|ORPHA:477673|PMID:27601654|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0001263 MIM:616281|ORPHA:477673|PMID:25758935|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155798892 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:401722673 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:405688395 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001263 RGD:8554872 IAGP RGD:155934104 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001263 RGD:8554872 IAGP RGD:405291164 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:153347012 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:401855742 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001276 MIM:616281|PMID:25758935|PMID:27601654|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0001288 ORPHA:477673|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20240815 HPO RGD 1313502 GPT2 HP:0001288 PMID:25741868|RGD:8554872 IAGP RGD:153347012 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001298 MIM:616281|PMID:25758935|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0001337 ORPHA:477673|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20230821 HPO RGD 1313502 GPT2 HP:0001344 MIM:616281|PMID:25758935|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0001347 MIM:616281|ORPHA:477673|PMID:25758935|PMID:27601654|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0001371 MIM:616281|PMID:27601654|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0001402 PMID:25741868|RGD:8554872 IAGP RGD:329351862 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001460 PMID:25741868|RGD:8554872 IAGP RGD:153347012 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001508 MIM:616281|ORPHA:477673|PMID:25758935|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0001629 RGD:8554872 IAGP RGD:405291164 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001631 RGD:8554872 IAGP RGD:405291164 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001748 RGD:8554872 IAGP RGD:405291164 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:155798892 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0001999 RGD:8554872 IAGP RGD:155934104 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0002069 MIM:616281|PMID:25758935|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0002079 MIM:616281|ORPHA:477673|PMID:27601654|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0002121 MIM:616281|PMID:25758935|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0002121 RGD:8554872 IAGP RGD:405291164 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0002136 ORPHA:477673|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20230821 HPO RGD 1313502 GPT2 HP:0002172 PMID:25741868|RGD:8554872 IAGP RGD:405688395 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0002307 MIM:616281|ORPHA:477673|PMID:27601654|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0002373 ORPHA:477673|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20230821 HPO RGD 1313502 GPT2 HP:0002445 PMID:25741868|RGD:8554872 IAGP RGD:401722673 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0002553 RGD:8554872 IAGP RGD:405291164 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0002861 PMID:25741868|RGD:8554872 IAGP RGD:329351862 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0003003 PMID:25741868|RGD:8554872 IAGP RGD:329351862 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0003487 ORPHA:477673|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20230821 HPO RGD 1313502 GPT2 HP:0003593 MIM:616281|PMID:25758935|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0003676 MIM:616281|PMID:27601654|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0004325 PMID:25741868|RGD:8554872 IAGP RGD:155798892 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0004325 RGD:8554872 IAGP RGD:155934104 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0004808 PMID:25741868|RGD:8554872 IAGP RGD:329351862 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0005484 MIM:616281|PMID:27601654|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20250912 HPO RGD 1313502 GPT2 HP:0006770 PMID:25741868|RGD:8554872 IAGP RGD:329351862 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0006829 ORPHA:477673|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20230821 HPO RGD 1313502 GPT2 HP:0011400 ORPHA:477673|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20230821 HPO RGD 1313502 GPT2 HP:0011470 ORPHA:477673|RGD:8699517 IAGP H glutamic--pyruvic transaminase 2 gene taxon:9606 20230821 HPO RGD 1313502 GPT2 HP:0011797 RGD:8554872 IAGP RGD:713631536 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0011968 RGD:8554872 IAGP RGD:405291164 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0012126 PMID:25741868|RGD:8554872 IAGP RGD:329351862 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0012126 RGD:8554872 IAGP RGD:714125394 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0030853 RGD:8554872 IAGP RGD:405291164 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0100021 PMID:25741868|RGD:8554872 IAGP RGD:401722673 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0100242 PMID:25741868|RGD:8554872 IAGP RGD:329351862 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0100522 PMID:25741868|RGD:8554872 IAGP RGD:329351862 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0100526 PMID:25741868|RGD:8554872 IAGP RGD:329351862 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0100526 RGD:8554872 IAGP RGD:713705251 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313502 GPT2 HP:0200134 PMID:25741868|RGD:8554872 IAGP RGD:401722673 H glutamic--pyruvic transaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313504 MAP4K1 HP:0003003 RGD:8554872 IAGP RGD:713828393 H mitogen-activated protein kinase kinase kinase kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313504 MAP4K1 HP:0004808 RGD:8554872 IAGP RGD:714267278 H mitogen-activated protein kinase kinase kinase kinase 1 gene taxon:9606 20260707 ClinVar RGD 1313504 MAP4K1 HP:0004808 RGD:8554872 IAGP RGD:714267287 H mitogen-activated protein kinase kinase kinase kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313504 MAP4K1 HP:0004808 RGD:8554872 IAGP RGD:714267294 H mitogen-activated protein kinase kinase kinase kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313504 MAP4K1 HP:0004808 RGD:8554872 IAGP RGD:714268839 H mitogen-activated protein kinase kinase kinase kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313504 MAP4K1 HP:0004808 RGD:8554872 IAGP RGD:714270678 H mitogen-activated protein kinase kinase kinase kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313504 MAP4K1 HP:0012126 RGD:8554872 IAGP RGD:714267287 H mitogen-activated protein kinase kinase kinase kinase 1 gene taxon:9606 20260707 ClinVar RGD 1313504 MAP4K1 HP:0100242 RGD:8554872 IAGP RGD:713367473 H mitogen-activated protein kinase kinase kinase kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313504 MAP4K1 HP:0100242 RGD:8554872 IAGP RGD:714267287 H mitogen-activated protein kinase kinase kinase kinase 1 gene taxon:9606 20260707 ClinVar RGD 1313504 MAP4K1 HP:0100526 RGD:8554872 IAGP RGD:713367499 H mitogen-activated protein kinase kinase kinase kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313507 FBXO10 HP:0002861 RGD:8554872 IAGP RGD:713759895 H F-box protein 10 gene taxon:9606 20260519 ClinVar RGD 1313507 FBXO10 HP:0003003 RGD:8554872 IAGP RGD:713759793 H F-box protein 10 gene taxon:9606 20260519 ClinVar RGD 1313507 FBXO10 HP:0004808 RGD:8554872 IAGP RGD:714259773 H F-box protein 10 gene taxon:9606 20260519 ClinVar RGD 1313507 FBXO10 HP:0006770 RGD:8554872 IAGP RGD:713759846 H F-box protein 10 gene taxon:9606 20260519 ClinVar RGD 1313507 FBXO10 HP:0100526 RGD:8554872 IAGP RGD:713759862 H F-box protein 10 gene taxon:9606 20260519 ClinVar RGD 1313507 FBXO10 HP:0100615 RGD:8554872 IAGP RGD:713759782 H F-box protein 10 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0000006 MIM:600059|PMID:11468273|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20260209 HPO RGD 1313510 PRPF8 HP:0000405 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20230821 HPO RGD 1313510 PRPF8 HP:0000407 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20230821 HPO RGD 1313510 PRPF8 HP:0000501 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20230821 HPO RGD 1313510 PRPF8 HP:0000505 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20230821 HPO RGD 1313510 PRPF8 HP:0000510 MIM:600059|PMID:22039234|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20260209 HPO RGD 1313510 PRPF8 HP:0000510 PMID:11468273|PMID:12714658|PMID:16799052|PMID:21378395|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:29847639|PMID:31213501|PMID:31725702|PMID:32581362|PMID:33090715|PMID:34758253|PMID:34906470|PMID:36909829|RGD:8554872 IAGP RGD:13435020 H pre-mRNA processing factor 8 gene taxon:9606 20250107 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:11468273|PMID:25741868|RGD:8554872 IAGP RGD:713634182 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:28896507 H pre-mRNA processing factor 8 gene taxon:9606 20220420 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:24938718|PMID:25741868|PMID:28492532|PMID:31456290|PMID:32531858|PMID:33494148|PMID:33712029|PMID:33749171|PMID:34716235|PMID:35138024|RGD:8554872 IAGP RGD:13706130 H pre-mRNA processing factor 8 gene taxon:9606 20260707 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11622870 H pre-mRNA processing factor 8 gene taxon:9606 20230110 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12738999 H pre-mRNA processing factor 8 gene taxon:9606 20230214 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28899202 H pre-mRNA processing factor 8 gene taxon:9606 20230110 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:25741868|PMID:34906470|RGD:8554872 IAGP RGD:150438534 H pre-mRNA processing factor 8 gene taxon:9606 20230606 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:38465018 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:10052315 H pre-mRNA processing factor 8 gene taxon:9606 20260707 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11614027 H pre-mRNA processing factor 8 gene taxon:9606 20240403 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11617443 H pre-mRNA processing factor 8 gene taxon:9606 20210706 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11618037 H pre-mRNA processing factor 8 gene taxon:9606 20220510 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11618084 H pre-mRNA processing factor 8 gene taxon:9606 20241112 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11618809 H pre-mRNA processing factor 8 gene taxon:9606 20210706 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11619092 H pre-mRNA processing factor 8 gene taxon:9606 20220510 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11619939 H pre-mRNA processing factor 8 gene taxon:9606 20220510 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11620412 H pre-mRNA processing factor 8 gene taxon:9606 20210706 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11621507 H pre-mRNA processing factor 8 gene taxon:9606 20210608 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11621838 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11625124 H pre-mRNA processing factor 8 gene taxon:9606 20210706 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11625504 H pre-mRNA processing factor 8 gene taxon:9606 20220510 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11626450 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11627598 H pre-mRNA processing factor 8 gene taxon:9606 20210608 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11632078 H pre-mRNA processing factor 8 gene taxon:9606 20220510 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11657972 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28895962 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28895965 H pre-mRNA processing factor 8 gene taxon:9606 20210706 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28896242 H pre-mRNA processing factor 8 gene taxon:9606 20210608 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28896501 H pre-mRNA processing factor 8 gene taxon:9606 20210608 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28896514 H pre-mRNA processing factor 8 gene taxon:9606 20220510 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28898933 H pre-mRNA processing factor 8 gene taxon:9606 20220510 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28899196 H pre-mRNA processing factor 8 gene taxon:9606 20230214 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28899206 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28899210 H pre-mRNA processing factor 8 gene taxon:9606 20241112 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28899411 H pre-mRNA processing factor 8 gene taxon:9606 20230214 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28905250 H pre-mRNA processing factor 8 gene taxon:9606 20230214 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28905253 H pre-mRNA processing factor 8 gene taxon:9606 20210608 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28905258 H pre-mRNA processing factor 8 gene taxon:9606 20220510 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28905264 H pre-mRNA processing factor 8 gene taxon:9606 20210706 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28905267 H pre-mRNA processing factor 8 gene taxon:9606 20210706 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28905406 H pre-mRNA processing factor 8 gene taxon:9606 20210608 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28905413 H pre-mRNA processing factor 8 gene taxon:9606 20220510 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28905623 H pre-mRNA processing factor 8 gene taxon:9606 20210706 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28908980 H pre-mRNA processing factor 8 gene taxon:9606 20210406 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28909151 H pre-mRNA processing factor 8 gene taxon:9606 20210706 ClinVar RGD 1313510 PRPF8 HP:0000510 PMID:30718709|RGD:8554872 IAGP RGD:14698540 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11612554 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11617102 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11619213 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11622557 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11623376 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11630558 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11631599 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11634692 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11635250 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11635333 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11635632 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11645597 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11650273 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11656579 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11659104 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11659270 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11661177 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11663581 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:11663963 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:28896510 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:28898916 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:28898922 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:28898937 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:28899416 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:28905410 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:28906380 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:28906384 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:28908809 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:28908814 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:28908818 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:28908822 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:28908824 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:38463939 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0000510 RGD:8554872 IAGP RGD:405853594 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0000512 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20230821 HPO RGD 1313510 PRPF8 HP:0000523 MIM:600059|PMID:22039234|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20250912 HPO RGD 1313510 PRPF8 HP:0000543 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20260209 HPO RGD 1313510 PRPF8 HP:0000546 MIM:600059|ORPHA:791|PMID:22039234|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20250912 HPO RGD 1313510 PRPF8 HP:0000548 PMID:11468273|PMID:25741868|RGD:8554872 IAGP RGD:713634182 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0000548 PMID:24938718|PMID:25741868|PMID:28492532|PMID:31456290|PMID:32531858|PMID:33494148|PMID:33712029|PMID:33749171|PMID:34716235|PMID:35138024|RGD:8554872 IAGP RGD:13706130 H pre-mRNA processing factor 8 gene taxon:9606 20260707 ClinVar RGD 1313510 PRPF8 HP:0000548 RGD:8554872 IAGP RGD:38463939 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0000548 RGD:8554872 IAGP RGD:405853594 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0000551 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20241212 HPO RGD 1313510 PRPF8 HP:0000556 PMID:11468273|PMID:11910553|PMID:12714658|PMID:16799052|PMID:28492532|PMID:28515276|RGD:8554872 IAGP RGD:8596100 H pre-mRNA processing factor 8 gene taxon:9606 20220420 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:11468273|PMID:16799052|PMID:24938718|PMID:28076437|PMID:28492532|PMID:33576794|RGD:8554872 IAGP RGD:26909751 H pre-mRNA processing factor 8 gene taxon:9606 20220420 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:11468273|PMID:25741868|PMID:28492532|PMID:28515276|PMID:31087526|RGD:8554872 IAGP RGD:156210685 H pre-mRNA processing factor 8 gene taxon:9606 20250107 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:17061239|PMID:23950152|PMID:28492532|RGD:8554872 IAGP RGD:26911051 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:18695108|PMID:28492532|PMID:28515276|RGD:8554872 IAGP RGD:8596098 H pre-mRNA processing factor 8 gene taxon:9606 20260602 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:20232351|PMID:21378395|PMID:28492532|PMID:28515276|RGD:8554872 IAGP RGD:26909484 H pre-mRNA processing factor 8 gene taxon:9606 20210608 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:22277662|PMID:28492532|PMID:37734845|RGD:8554872 IAGP RGD:21072909 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:24938718|PMID:25741868|PMID:28492532|PMID:31456290|PMID:32531858|PMID:33494148|PMID:33712029|PMID:33749171|PMID:34716235|PMID:35138024|RGD:8554872 IAGP RGD:13706130 H pre-mRNA processing factor 8 gene taxon:9606 20260707 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28798898|PMID:33157387|PMID:33598457|PMID:33781268|PMID:34321860|PMID:36819107|RGD:8554872 IAGP RGD:26910798 H pre-mRNA processing factor 8 gene taxon:9606 20250107 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|PMID:28492532|PMID:30029497|PMID:32531858|PMID:33598457|PMID:3646071|PMID:36819107|RGD:8554872 IAGP RGD:596939163 H pre-mRNA processing factor 8 gene taxon:9606 20250311 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11614328 H pre-mRNA processing factor 8 gene taxon:9606 20250107 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11615142 H pre-mRNA processing factor 8 gene taxon:9606 20250107 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405263413 H pre-mRNA processing factor 8 gene taxon:9606 20250311 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:596942052 H pre-mRNA processing factor 8 gene taxon:9606 20250311 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:596942389 H pre-mRNA processing factor 8 gene taxon:9606 20250311 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|PMID:28707069|RGD:8554872 IAGP RGD:596939072 H pre-mRNA processing factor 8 gene taxon:9606 20250107 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|PMID:32531858|PMID:34906470|RGD:8554872 IAGP RGD:38464375 H pre-mRNA processing factor 8 gene taxon:9606 20250107 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:21075529 H pre-mRNA processing factor 8 gene taxon:9606 20250506 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939139 H pre-mRNA processing factor 8 gene taxon:9606 20250107 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939252 H pre-mRNA processing factor 8 gene taxon:9606 20250107 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939312 H pre-mRNA processing factor 8 gene taxon:9606 20250107 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939770 H pre-mRNA processing factor 8 gene taxon:9606 20250107 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941641 H pre-mRNA processing factor 8 gene taxon:9606 20250107 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941670 H pre-mRNA processing factor 8 gene taxon:9606 20250107 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944021 H pre-mRNA processing factor 8 gene taxon:9606 20250107 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596945563 H pre-mRNA processing factor 8 gene taxon:9606 20250107 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:8596099 H pre-mRNA processing factor 8 gene taxon:9606 20260602 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:11345572 H pre-mRNA processing factor 8 gene taxon:9606 20260602 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:11618084 H pre-mRNA processing factor 8 gene taxon:9606 20241112 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:127318284 H pre-mRNA processing factor 8 gene taxon:9606 20241112 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:156081510 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:21406183 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26910409 H pre-mRNA processing factor 8 gene taxon:9606 20210406 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26910537 H pre-mRNA processing factor 8 gene taxon:9606 20220420 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26911035 H pre-mRNA processing factor 8 gene taxon:9606 20220420 ClinVar RGD 1313510 PRPF8 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:405263406 H pre-mRNA processing factor 8 gene taxon:9606 20250311 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:11351160 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:11351234 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:26909776 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:26909784 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:26909984 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:26910162 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:26910532 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:26910664 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:26910698 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:26910715 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:26910816 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263401 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263404 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263407 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263408 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263411 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263414 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263417 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263418 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263420 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263421 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263428 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263429 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263433 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263460 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263465 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263466 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263468 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263469 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263470 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263472 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263482 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263483 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263494 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263496 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263497 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263498 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405263513 H pre-mRNA processing factor 8 gene taxon:9606 20240409 ClinVar RGD 1313510 PRPF8 HP:0000556 RGD:8554872 IAGP RGD:405853594 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0000563 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20230821 HPO RGD 1313510 PRPF8 HP:0000602 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20230821 HPO RGD 1313510 PRPF8 HP:0000613 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20230821 HPO RGD 1313510 PRPF8 HP:0000613 RGD:8554872 IAGP RGD:38463939 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0000618 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20230821 HPO RGD 1313510 PRPF8 HP:0000639 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20230821 HPO RGD 1313510 PRPF8 HP:0000648 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20230821 HPO RGD 1313510 PRPF8 HP:0000662 MIM:600059|ORPHA:791|PMID:22039234|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20260209 HPO RGD 1313510 PRPF8 HP:0000842 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20230821 HPO RGD 1313510 PRPF8 HP:0001105 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20241212 HPO RGD 1313510 PRPF8 HP:0001133 MIM:600059|PMID:22039234|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20260209 HPO RGD 1313510 PRPF8 HP:0002861 RGD:8554872 IAGP RGD:713824588 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0002861 RGD:8554872 IAGP RGD:714004937 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0002861 RGD:8554872 IAGP RGD:714005014 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0002861 RGD:8554872 IAGP RGD:714005200 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0003002 PMID:11468273|PMID:25741868|RGD:8554872 IAGP RGD:713634182 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0003621 MIM:600059|PMID:22039234|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20260209 HPO RGD 1313510 PRPF8 HP:0003829 MIM:600059|PMID:22039234|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20250912 HPO RGD 1313510 PRPF8 HP:0004808 RGD:8554872 IAGP RGD:713666713 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0004808 RGD:8554872 IAGP RGD:713669815 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0006770 RGD:8554872 IAGP RGD:714004887 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0007663 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20260209 HPO RGD 1313510 PRPF8 HP:0007675 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20230821 HPO RGD 1313510 PRPF8 HP:0007703 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20230821 HPO RGD 1313510 PRPF8 HP:0007737 MIM:600059|ORPHA:791|PMID:22039234|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20260209 HPO RGD 1313510 PRPF8 HP:0007787 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20240118 HPO RGD 1313510 PRPF8 HP:0007843 MIM:600059|ORPHA:791|PMID:22039234|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20260209 HPO RGD 1313510 PRPF8 HP:0007994 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20240118 HPO RGD 1313510 PRPF8 HP:0008046 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20230821 HPO RGD 1313510 PRPF8 HP:0011462 MIM:600059|PMID:22039234|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20260209 HPO RGD 1313510 PRPF8 HP:0011463 MIM:600059|PMID:22039234|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20260209 HPO RGD 1313510 PRPF8 HP:0011505 MIM:600059|ORPHA:791|PMID:22039234|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20250912 HPO RGD 1313510 PRPF8 HP:0012126 RGD:8554872 IAGP RGD:714135074 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0012426 MIM:600059|ORPHA:791|PMID:22039234|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20250912 HPO RGD 1313510 PRPF8 HP:0012759 RGD:8554872 IAGP RGD:40889544 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0012759 RGD:8554872 IAGP RGD:40889573 H pre-mRNA processing factor 8 gene taxon:9606 20210323 ClinVar RGD 1313510 PRPF8 HP:0025502 PMID:25741868|RGD:8554872 IAGP RGD:21075530 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0030466 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20241212 HPO RGD 1313510 PRPF8 HP:0030488 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20241212 HPO RGD 1313510 PRPF8 HP:0030610 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20241212 HPO RGD 1313510 PRPF8 HP:0030629 MIM:600059|PMID:22039234|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20250912 HPO RGD 1313510 PRPF8 HP:0030672 MIM:600059|PMID:22039234|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20250912 HPO RGD 1313510 PRPF8 HP:0030786 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 8 gene taxon:9606 20240118 HPO RGD 1313510 PRPF8 HP:0031172 RGD:8554872 IAGP RGD:405853594 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313510 PRPF8 HP:0100522 RGD:8554872 IAGP RGD:714005273 H pre-mRNA processing factor 8 gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0000003 RGD:8554872 IAGP RGD:714022693 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0000006 MIM:617874|PMID:28375157|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0000007 MIM:608104|PMID:12480927|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0000028 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0000107 MIM:617874|PMID:28375157|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0000107 PMID:25741868|RGD:8554872 IAGP RGD:151348946 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0000107 RGD:8554872 IAGP RGD:714022693 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0000158 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0000158 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0000239 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0000252 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0000271 PMID:25741868|RGD:8554872 IAGP RGD:151234926 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0000316 MIM:608104|ORPHA:79325|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0000316 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0000343 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0000347 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0000369 MIM:608104|ORPHA:79325|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0000369 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0000470 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0000478 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0000488 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0000518 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0000639 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0000648 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0000707 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0000750 PMID:19688606|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532|PMID:36574950|PMID:37628703|PMID:39899384|RGD:8554872 IAGP RGD:11581126 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260602 ClinVar RGD 1313512 ALG8 HP:0000790 RGD:8554872 IAGP RGD:597832653 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0000821 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0000821 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0000952 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0000961 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0000969 MIM:608104|ORPHA:79325|PMID:12480927|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0000973 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0001001 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0001156 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:151234926 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0001250 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:151234926 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0001251 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0001252 MIM:608104|ORPHA:79325|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001252 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:151234926 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:151234926 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0001263 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:151234926 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0001396 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001407 MIM:617874|PMID:28375157|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001410 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001433 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0001508 MIM:608104|ORPHA:79325|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001508 PMID:19688606|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532|PMID:36574950|PMID:37628703|PMID:39899384|RGD:8554872 IAGP RGD:11581126 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260602 ClinVar RGD 1313512 ALG8 HP:0001511 MIM:608104|ORPHA:79325|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001518 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0001522 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001541 MIM:608104|ORPHA:79325|PMID:12480927|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001558 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001561 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0001562 MIM:608104|ORPHA:79325|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001622 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0001643 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001654 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0001732 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0001762 MIM:608104|ORPHA:79325|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001789 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0001845 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0001873 MIM:608104|ORPHA:79325|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001903 MIM:608104|ORPHA:79325|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001929 MIM:608104|ORPHA:79325|PMID:12480927|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001976 MIM:608104|ORPHA:79325|PMID:12480927|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0001999 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:151234926 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0002013 MIM:608104|ORPHA:79325|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0002014 MIM:608104|ORPHA:79325|PMID:12480927|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0002020 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0002020 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0002027 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0002079 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0002086 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0002093 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0002094 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0002104 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0002119 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0002120 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0002123 PMID:19862844|PMID:25741868|RGD:8554872 IAGP RGD:151664399 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0002157 PMID:25741868|RGD:8554872 IAGP RGD:151348946 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0002239 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0002240 MIM:608104|ORPHA:2924|PMID:12480927|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0002243 MIM:608104|PMID:12480927|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0002342 PMID:25741868|RGD:8554872 IAGP RGD:151234926 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0002352 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0002415 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0002617 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0002902 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0002907 RGD:8554872 IAGP RGD:597832653 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0002910 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0003073 MIM:608104|PMID:12480927|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0003155 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0003160 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0003186 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0003256 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0003259 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0003270 MIM:608104|ORPHA:2924|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0003418 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0003573 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0003577 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0003593 MIM:608104|PMID:12480927|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0003642 MIM:608104|ORPHA:79325|PMID:12480927|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0003645 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0003811 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0003811 PMID:19862844|PMID:25741868|PMID:26066342|PMID:28375157|PMID:28492532|PMID:36574950|PMID:39899384|RGD:8554872 IAGP RGD:13508742 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260707 ClinVar RGD 1313512 ALG8 HP:0004734 PMID:25741868|RGD:8554872 IAGP RGD:151728053 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0004944 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0005543 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0005562 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0005562 RGD:8554872 IAGP RGD:714022693 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0006557 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0008872 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0010741 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0011024 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0011121 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0011342 PMID:25741868|RGD:8554872 IAGP RGD:151234926 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0011343 PMID:25741868|RGD:8554872 IAGP RGD:151234926 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0011446 PMID:25741868|RGD:8554872 IAGP RGD:151234926 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0011461 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0011682 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0011968 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0012385 MIM:608104|ORPHA:79325|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0012622 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15103418 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0012638 PMID:25741868|RGD:8554872 IAGP RGD:151234926 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0012736 PMID:19862844|PMID:25741868|RGD:8554872 IAGP RGD:151664399 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:151234926 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0012759 PMID:25741868|RGD:8554872 IAGP RGD:151234926 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0025116 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0030153 RGD:8554872 IAGP RGD:150461706 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0030242 PMID:19688606|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532|PMID:36574950|PMID:37628703|PMID:39899384|RGD:8554872 IAGP RGD:11581126 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260602 ClinVar RGD 1313512 ALG8 HP:0030948 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0031507 MIM:608104|PMID:15235028|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250912 HPO RGD 1313512 ALG8 HP:0033842 ORPHA:2924|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20250814 HPO RGD 1313512 ALG8 HP:0100377 PMID:23806237|PMID:28492532|PMID:28940310|RGD:8554872 IAGP RGD:10053290 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0100522 RGD:8554872 IAGP RGD:150336056 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260519 ClinVar RGD 1313512 ALG8 HP:0100678 ORPHA:79325|RGD:8699517 IAGP H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20230821 HPO RGD 1313512 ALG8 HP:0100724 PMID:19688606|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532|PMID:36574950|PMID:37628703|PMID:39899384|RGD:8554872 IAGP RGD:11581126 H ALG8 alpha-1,3-glucosyltransferase gene taxon:9606 20260602 ClinVar RGD 1313515 RNF19B HP:0001402 RGD:8554872 IAGP RGD:713738618 H ring finger protein 19B gene taxon:9606 20260519 ClinVar RGD 1313515 RNF19B HP:0002861 RGD:8554872 IAGP RGD:714003691 H ring finger protein 19B gene taxon:9606 20260519 ClinVar RGD 1313515 RNF19B HP:0006770 RGD:8554872 IAGP RGD:714003572 H ring finger protein 19B gene taxon:9606 20260519 ClinVar RGD 1313515 RNF19B HP:0006770 RGD:8554872 IAGP RGD:714003702 H ring finger protein 19B gene taxon:9606 20260519 ClinVar RGD 1313515 RNF19B HP:0006770 RGD:8554872 IAGP RGD:714134718 H ring finger protein 19B gene taxon:9606 20260519 ClinVar RGD 1313515 RNF19B HP:0100522 RGD:8554872 IAGP RGD:714003207 H ring finger protein 19B gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0000007 MIM:616517|PMID:26029869|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20260209 HPO RGD 1313517 ATF6 HP:0000478 PMID:25741868|RGD:8554872 IAGP RGD:596925050 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0000505 ORPHA:1872|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20230821 HPO RGD 1313517 ATF6 HP:0000529 ORPHA:1872|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20240815 HPO RGD 1313517 ATF6 HP:0000539 ORPHA:49382|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20230821 HPO RGD 1313517 ATF6 HP:0000540 ORPHA:49382|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20230821 HPO RGD 1313517 ATF6 HP:0000543 ORPHA:1872|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20260209 HPO RGD 1313517 ATF6 HP:0000545 ORPHA:49382|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20260209 HPO RGD 1313517 ATF6 HP:0000551 ORPHA:1872|ORPHA:49382|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20250416 HPO RGD 1313517 ATF6 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126731421 H activating transcription factor 6 gene taxon:9606 20250107 ClinVar RGD 1313517 ATF6 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26916610 H activating transcription factor 6 gene taxon:9606 20250107 ClinVar RGD 1313517 ATF6 HP:0000556 PMID:25741868|PMID:30202406|RGD:8554872 IAGP RGD:21068912 H activating transcription factor 6 gene taxon:9606 20250107 ClinVar RGD 1313517 ATF6 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939078 H activating transcription factor 6 gene taxon:9606 20250107 ClinVar RGD 1313517 ATF6 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944785 H activating transcription factor 6 gene taxon:9606 20250107 ClinVar RGD 1313517 ATF6 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944787 H activating transcription factor 6 gene taxon:9606 20250107 ClinVar RGD 1313517 ATF6 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596945801 H activating transcription factor 6 gene taxon:9606 20250107 ClinVar RGD 1313517 ATF6 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596945847 H activating transcription factor 6 gene taxon:9606 20250107 ClinVar RGD 1313517 ATF6 HP:0000603 MIM:616517|ORPHA:1872|ORPHA:49382|PMID:26029869|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20250912 HPO RGD 1313517 ATF6 HP:0000613 MIM:616517|ORPHA:1872|ORPHA:49382|PMID:26029869|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20250912 HPO RGD 1313517 ATF6 HP:0000639 MIM:616517|ORPHA:1872|PMID:26029869|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20250912 HPO RGD 1313517 ATF6 HP:0000662 ORPHA:1872|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20260209 HPO RGD 1313517 ATF6 HP:0001103 ORPHA:49382|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20230821 HPO RGD 1313517 ATF6 HP:0001105 ORPHA:1872|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20240815 HPO RGD 1313517 ATF6 HP:0001402 RGD:8554872 IAGP RGD:714075494 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0002861 RGD:8554872 IAGP RGD:713850284 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0002861 RGD:8554872 IAGP RGD:713850451 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0004808 RGD:8554872 IAGP RGD:713467096 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0004808 RGD:8554872 IAGP RGD:714162980 H activating transcription factor 6 gene taxon:9606 20260707 ClinVar RGD 1313517 ATF6 HP:0006770 RGD:8554872 IAGP RGD:713851907 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0007401 MIM:616517|PMID:26029869|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20250912 HPO RGD 1313517 ATF6 HP:0007641 ORPHA:1872|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20240815 HPO RGD 1313517 ATF6 HP:0007663 MIM:616517|ORPHA:49382|PMID:26029869|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20260209 HPO RGD 1313517 ATF6 HP:0007695 ORPHA:49382|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20230821 HPO RGD 1313517 ATF6 HP:0007703 ORPHA:1872|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20230821 HPO RGD 1313517 ATF6 HP:0007722 ORPHA:49382|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20230821 HPO RGD 1313517 ATF6 HP:0007737 ORPHA:1872|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20260209 HPO RGD 1313517 ATF6 HP:0007750 MIM:616517|ORPHA:49382|PMID:26029869|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20250912 HPO RGD 1313517 ATF6 HP:0007754 RGD:8554872 IAGP RGD:13435140 H activating transcription factor 6 gene taxon:9606 20260602 ClinVar RGD 1313517 ATF6 HP:0007803 ORPHA:49382|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20230821 HPO RGD 1313517 ATF6 HP:0007814 ORPHA:49382|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20230821 HPO RGD 1313517 ATF6 HP:0007843 ORPHA:1872|ORPHA:49382|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20260209 HPO RGD 1313517 ATF6 HP:0008619 PMID:25741868|PMID:26029869|PMID:28028229|PMID:28492532|RGD:8554872 IAGP RGD:10397262 H activating transcription factor 6 gene taxon:9606 20240910 ClinVar RGD 1313517 ATF6 HP:0008619 PMID:26029869|RGD:8554872 IAGP RGD:10398712 H activating transcription factor 6 gene taxon:9606 20240910 ClinVar RGD 1313517 ATF6 HP:0011516 MIM:616517|PMID:26029869|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20250912 HPO RGD 1313517 ATF6 HP:0011516 PMID:16199547|PMID:24033266|PMID:26029869|PMID:26063662|PMID:26070061|PMID:28492532|RGD:8554872 IAGP RGD:38458878 H activating transcription factor 6 gene taxon:9606 20210608 ClinVar RGD 1313517 ATF6 HP:0011516 PMID:24033266|RGD:8554872 IAGP RGD:13528610 H activating transcription factor 6 gene taxon:9606 20210323 ClinVar RGD 1313517 ATF6 HP:0011516 PMID:25741868|PMID:26029869|PMID:28028229|PMID:28492532|RGD:8554872 IAGP RGD:10397262 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0011516 PMID:26029869|PMID:26063662|PMID:26070061|PMID:28492532|RGD:8554872 IAGP RGD:10406272 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0011516 PMID:26029869|PMID:26070061|PMID:28492532|PMID:31237654|RGD:8554872 IAGP RGD:10406273 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0011516 PMID:26029869|RGD:8554872 IAGP RGD:10398712 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0011516 PMID:26029869|RGD:8554872 IAGP RGD:10404689 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0011516 PMID:26029869|RGD:8554872 IAGP RGD:10406271 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0011516 PMID:26029869|RGD:8554872 IAGP RGD:10406274 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0011516 PMID:26029869|RGD:8554872 IAGP RGD:10406275 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0011516 RGD:8554872 IAGP RGD:13434940 H activating transcription factor 6 gene taxon:9606 20260602 ClinVar RGD 1313517 ATF6 HP:0012043 ORPHA:49382|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20230821 HPO RGD 1313517 ATF6 HP:0012126 RGD:8554872 IAGP RGD:714162980 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0012508 ORPHA:1872|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20240815 HPO RGD 1313517 ATF6 HP:0025549 ORPHA:49382|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20230821 HPO RGD 1313517 ATF6 HP:0030153 RGD:8554872 IAGP RGD:713850088 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0030153 RGD:8554872 IAGP RGD:713851622 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0030153 RGD:8554872 IAGP RGD:714162980 H activating transcription factor 6 gene taxon:9606 20260707 ClinVar RGD 1313517 ATF6 HP:0030465 ORPHA:49382|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20230821 HPO RGD 1313517 ATF6 HP:0030466 ORPHA:1872|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20240815 HPO RGD 1313517 ATF6 HP:0030584 ORPHA:49382|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20230821 HPO RGD 1313517 ATF6 HP:0030620 ORPHA:49382|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20230821 HPO RGD 1313517 ATF6 HP:0030825 MIM:616517|ORPHA:49382|PMID:26063662|RGD:8699517 IAGP H activating transcription factor 6 gene taxon:9606 20250912 HPO RGD 1313517 ATF6 HP:0100242 RGD:8554872 IAGP RGD:713849997 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313517 ATF6 HP:0100522 RGD:8554872 IAGP RGD:714162980 H activating transcription factor 6 gene taxon:9606 20260707 ClinVar RGD 1313517 ATF6 HP:0100526 RGD:8554872 IAGP RGD:713850666 H activating transcription factor 6 gene taxon:9606 20260519 ClinVar RGD 1313519 CNTNAP5 HP:0002861 RGD:8554872 IAGP RGD:713710758 H contactin associated protein family member 5 gene taxon:9606 20260519 ClinVar RGD 1313519 CNTNAP5 HP:0012126 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15195268 H contactin associated protein family member 5 gene taxon:9606 20260519 ClinVar RGD 1313519 CNTNAP5 HP:0012126 RGD:8554872 IAGP RGD:713668344 H contactin associated protein family member 5 gene taxon:9606 20260519 ClinVar RGD 1313519 CNTNAP5 HP:0030153 RGD:8554872 IAGP RGD:713710781 H contactin associated protein family member 5 gene taxon:9606 20260519 ClinVar RGD 1313519 CNTNAP5 HP:0100522 RGD:8554872 IAGP RGD:713710781 H contactin associated protein family member 5 gene taxon:9606 20260519 ClinVar RGD 1313519 CNTNAP5 HP:0100522 RGD:8554872 IAGP RGD:713710797 H contactin associated protein family member 5 gene taxon:9606 20260519 ClinVar RGD 1313519 CNTNAP5 HP:0100522 RGD:8554872 IAGP RGD:713710838 H contactin associated protein family member 5 gene taxon:9606 20260519 ClinVar RGD 1313519 CNTNAP5 HP:0100526 RGD:8554872 IAGP RGD:713710781 H contactin associated protein family member 5 gene taxon:9606 20260519 ClinVar RGD 1313519 CNTNAP5 HP:0100526 RGD:8554872 IAGP RGD:713710817 H contactin associated protein family member 5 gene taxon:9606 20260519 ClinVar RGD 1313520 SPAG7 HP:0007716 RGD:8554872 IAGP RGD:713796472 H sperm associated antigen 7 gene taxon:9606 20260519 ClinVar RGD 1313520 SPAG7 HP:0100526 RGD:8554872 IAGP RGD:713825732 H sperm associated antigen 7 gene taxon:9606 20260519 ClinVar RGD 1313520 SPAG7 HP:0100526 RGD:8554872 IAGP RGD:714039189 H sperm associated antigen 7 gene taxon:9606 20260519 ClinVar RGD 1313522 L3MBTL3 HP:0001402 RGD:8554872 IAGP RGD:713551985 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260707 ClinVar RGD 1313522 L3MBTL3 HP:0001402 RGD:8554872 IAGP RGD:714165812 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313522 L3MBTL3 HP:0002861 RGD:8554872 IAGP RGD:713518365 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313522 L3MBTL3 HP:0004808 RGD:8554872 IAGP RGD:713439813 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313522 L3MBTL3 HP:0006770 RGD:8554872 IAGP RGD:713518547 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313522 L3MBTL3 HP:0012126 RGD:8554872 IAGP RGD:713551985 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313522 L3MBTL3 HP:0012126 RGD:8554872 IAGP RGD:713552048 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313522 L3MBTL3 HP:0030153 RGD:8554872 IAGP RGD:713435460 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313522 L3MBTL3 HP:0030153 RGD:8554872 IAGP RGD:713518476 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313522 L3MBTL3 HP:0030153 RGD:8554872 IAGP RGD:713551985 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260707 ClinVar RGD 1313522 L3MBTL3 HP:0030359 RGD:8554872 IAGP RGD:713518493 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313522 L3MBTL3 HP:0100242 RGD:8554872 IAGP RGD:713435472 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313522 L3MBTL3 HP:0100242 RGD:8554872 IAGP RGD:713439813 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313522 L3MBTL3 HP:0100242 RGD:8554872 IAGP RGD:713552048 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313522 L3MBTL3 HP:0100522 RGD:8554872 IAGP RGD:713518476 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313522 L3MBTL3 HP:0100522 RGD:8554872 IAGP RGD:713518529 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313522 L3MBTL3 HP:0100615 RGD:8554872 IAGP RGD:713518402 H L3MBTL histone methyl-lysine binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313525 MKI67 HP:0001657 RGD:8554872 IAGP RGD:10398628 H marker of proliferation Ki-67 gene taxon:9606 20260602 ClinVar RGD 1313525 MKI67 HP:0002861 RGD:8554872 IAGP RGD:713371182 H marker of proliferation Ki-67 gene taxon:9606 20260519 ClinVar RGD 1313525 MKI67 HP:0004808 PMID:25741868|RGD:8554872 IAGP RGD:405266205 H marker of proliferation Ki-67 gene taxon:9606 20260519 ClinVar RGD 1313525 MKI67 HP:0006725 RGD:8554872 IAGP RGD:713371327 H marker of proliferation Ki-67 gene taxon:9606 20260519 ClinVar RGD 1313525 MKI67 HP:0007716 PMID:25741868|RGD:8554872 IAGP RGD:405266205 H marker of proliferation Ki-67 gene taxon:9606 20260519 ClinVar RGD 1313525 MKI67 HP:0012126 RGD:8554872 IAGP RGD:713737934 H marker of proliferation Ki-67 gene taxon:9606 20260519 ClinVar RGD 1313525 MKI67 HP:0030153 RGD:8554872 IAGP RGD:713371406 H marker of proliferation Ki-67 gene taxon:9606 20260519 ClinVar RGD 1313525 MKI67 HP:0100242 RGD:8554872 IAGP RGD:713371307 H marker of proliferation Ki-67 gene taxon:9606 20260519 ClinVar RGD 1313525 MKI67 HP:0100242 RGD:8554872 IAGP RGD:713371350 H marker of proliferation Ki-67 gene taxon:9606 20260519 ClinVar RGD 1313525 MKI67 HP:0100242 RGD:8554872 IAGP RGD:713371381 H marker of proliferation Ki-67 gene taxon:9606 20260519 ClinVar RGD 1313529 CTCFL HP:0002665 RGD:8554872 IAGP RGD:713971985 H CCCTC-binding factor like gene taxon:9606 20260519 ClinVar RGD 1313529 CTCFL HP:0100522 RGD:8554872 IAGP RGD:713928870 H CCCTC-binding factor like gene taxon:9606 20260519 ClinVar RGD 1313529 CTCFL HP:0100522 RGD:8554872 IAGP RGD:713971960 H CCCTC-binding factor like gene taxon:9606 20260519 ClinVar RGD 1313530 SNX7 HP:0001402 RGD:8554872 IAGP RGD:713742666 H sorting nexin 7 gene taxon:9606 20260519 ClinVar RGD 1313530 SNX7 HP:0001402 RGD:8554872 IAGP RGD:714261804 H sorting nexin 7 gene taxon:9606 20260519 ClinVar RGD 1313530 SNX7 HP:0006770 RGD:8554872 IAGP RGD:713611707 H sorting nexin 7 gene taxon:9606 20260519 ClinVar RGD 1313530 SNX7 HP:0006770 RGD:8554872 IAGP RGD:713611850 H sorting nexin 7 gene taxon:9606 20260519 ClinVar RGD 1313530 SNX7 HP:0011797 RGD:8554872 IAGP RGD:713408158 H sorting nexin 7 gene taxon:9606 20260519 ClinVar RGD 1313530 SNX7 HP:0012126 RGD:8554872 IAGP RGD:713927129 H sorting nexin 7 gene taxon:9606 20260519 ClinVar RGD 1313530 SNX7 HP:0012126 RGD:8554872 IAGP RGD:713927136 H sorting nexin 7 gene taxon:9606 20260519 ClinVar RGD 1313530 SNX7 HP:0030359 RGD:8554872 IAGP RGD:713611978 H sorting nexin 7 gene taxon:9606 20260519 ClinVar RGD 1313530 SNX7 HP:0100242 RGD:8554872 IAGP RGD:713612142 H sorting nexin 7 gene taxon:9606 20260519 ClinVar RGD 1313530 SNX7 HP:0100526 RGD:8554872 IAGP RGD:713610991 H sorting nexin 7 gene taxon:9606 20260519 ClinVar RGD 1313530 SNX7 HP:0100526 RGD:8554872 IAGP RGD:713927142 H sorting nexin 7 gene taxon:9606 20260519 ClinVar RGD 1313532 SFR1 HP:0012126 RGD:8554872 IAGP RGD:714262449 H SWI5 dependent homologous recombination repair protein 1 gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000006 MIM:614337|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20251023 HPO RGD 1313536 PMS2 HP:0000007 MIM:619101|PMID:7661930|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20251023 HPO RGD 1313536 PMS2 HP:0000014 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38461716 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000107 RGD:8554872 IAGP RGD:405746394 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000126 PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509|RGD:8554872 IAGP RGD:8658261 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000230 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38461716 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000360 PMID:25186627|PMID:25741868|PMID:25980754|PMID:27978560|PMID:28492532|PMID:33471991|PMID:38874686|RGD:8554872 IAGP RGD:9854307 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000496 PMID:16472587|PMID:16619239|PMID:19132747|PMID:20205264|PMID:22703879|PMID:24027009|PMID:24326041|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24728327|PMID:25117502|PMID:25741868|PMID:26272126|PMID:26483394|PMID:26898890|PMID:27435373|PMID:27930734|PMID:28492532|RGD:8554872 IAGP RGD:8604851 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260707 ClinVar RGD 1313536 PMS2 HP:0000505 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0000540 PMID:25186627|PMID:25741868|PMID:25980754|PMID:27978560|PMID:28492532|PMID:33471991|PMID:38874686|RGD:8554872 IAGP RGD:9854307 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000545 PMID:16472587|PMID:16619239|PMID:19132747|PMID:20205264|PMID:22703879|PMID:24027009|PMID:24326041|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24728327|PMID:25117502|PMID:25741868|PMID:26272126|PMID:26483394|PMID:26898890|PMID:27435373|PMID:27930734|PMID:28492532|RGD:8554872 IAGP RGD:8604851 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260707 ClinVar RGD 1313536 PMS2 HP:0000545 PMID:25741868|PMID:26689913|PMID:28492532|PMID:31386297|RGD:8554872 IAGP RGD:8689719 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000704 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38461716 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000708 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0000708 PMID:16199547|PMID:1992580|PMID:21376568|PMID:23709753|PMID:24033266|PMID:24362816|PMID:24440087|PMID:25741868|PMID:26247049|PMID:28449805|PMID:28492532|PMID:28640387|PMID:31101557|PMID:31992580|PMID:36988593|RGD:8554872 IAGP RGD:12887738 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000716 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0000716 PMID:25186627|PMID:25741868|PMID:25980754|PMID:27978560|PMID:28492532|PMID:33471991|PMID:38874686|RGD:8554872 IAGP RGD:9854307 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000717 PMID:16199547|PMID:1992580|PMID:21376568|PMID:23709753|PMID:24033266|PMID:24362816|PMID:24440087|PMID:25741868|PMID:26247049|PMID:28449805|PMID:28492532|PMID:28640387|PMID:31101557|PMID:31992580|PMID:36988593|RGD:8554872 IAGP RGD:12887738 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000736 PMID:25186627|PMID:25741868|PMID:25980754|PMID:27978560|PMID:28492532|PMID:33471991|PMID:38874686|RGD:8554872 IAGP RGD:9854307 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000737 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0000738 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0000739 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0000739 PMID:25186627|PMID:25741868|PMID:25980754|PMID:27978560|PMID:28492532|PMID:33471991|PMID:38874686|RGD:8554872 IAGP RGD:9854307 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000821 RGD:8554872 IAGP RGD:405746394 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000836 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38461716 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000836 PMID:28492532|RGD:8554872 IAGP RGD:13521259 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0000953 PMID:16472587|PMID:16619239|PMID:19132747|PMID:20205264|PMID:22703879|PMID:24027009|PMID:24326041|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24728327|PMID:25117502|PMID:25741868|PMID:26272126|PMID:26483394|PMID:26898890|PMID:27435373|PMID:27930734|PMID:28492532|RGD:8554872 IAGP RGD:8604851 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260707 ClinVar RGD 1313536 PMS2 HP:0000992 PMID:28492532|RGD:8554872 IAGP RGD:13521259 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001123 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0001250 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0001252 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0001260 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0001274 MIM:619101|PMID:22692065|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20250912 HPO RGD 1313536 PMS2 HP:0001276 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0001288 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0001298 PMID:28492532|RGD:8554872 IAGP RGD:8697871 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001371 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0001402 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0001402 PMID:28492532|RGD:8554872 IAGP RGD:26903353 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001402 RGD:8554872 IAGP RGD:155266001 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20221011 ClinVar RGD 1313536 PMS2 HP:0001402 RGD:8554872 IAGP RGD:713764347 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001402 RGD:8554872 IAGP RGD:713764379 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001522 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0001558 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38461716 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001558 PMID:28492532|RGD:8554872 IAGP RGD:8697871 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001560 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38461716 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001561 PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509|RGD:8554872 IAGP RGD:8658261 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001622 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38461716 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001629 PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509|RGD:8554872 IAGP RGD:8658261 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001631 PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509|RGD:8554872 IAGP RGD:8658261 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001636 PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509|RGD:8554872 IAGP RGD:8658261 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001787 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38461716 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001824 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0001871 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26899633 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001873 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26899633 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001882 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26899633 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0001901 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26899633 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002017 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0002019 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0002024 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0002027 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20251023 HPO RGD 1313536 PMS2 HP:0002031 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38461716 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002031 PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|RGD:8554872 IAGP RGD:11093133 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002031 PMID:28492532|RGD:8554872 IAGP RGD:13521259 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002076 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0002099 PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|RGD:8554872 IAGP RGD:11093133 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002167 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0002239 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0002242 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38461716 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002250 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38461716 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002282 MIM:619101|PMID:22692065|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20250912 HPO RGD 1313536 PMS2 HP:0002350 RGD:8554872 IAGP RGD:405746394 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002353 PMID:28492532|RGD:8554872 IAGP RGD:8697871 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002354 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0002376 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0002516 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0002579 PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|RGD:8554872 IAGP RGD:11093133 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002664 PMID:12697830|PMID:21376568|PMID:24362816|PMID:25741868|PMID:26681312|PMID:28492532|PMID:29596542|PMID:30013564|PMID:30337059|PMID:30389464|PMID:31992580|PMID:35101336|RGD:8554872 IAGP RGD:127325281 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002666 PMID:22949387|PMID:25741868|PMID:28492532|PMID:31346352|PMID:33471991|RGD:8554872 IAGP RGD:13706822 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002671 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0002686 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38461716 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002686 PMID:28492532|RGD:8554872 IAGP RGD:8697871 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:8697871 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002721 PMID:28492532|RGD:8554872 IAGP RGD:8697871 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002893 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0002894 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0002896 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240118 HPO RGD 1313536 PMS2 HP:0002904 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26899633 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0002960 PMID:28492532|RGD:8554872 IAGP RGD:8697871 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0003002 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240118 HPO RGD 1313536 PMS2 HP:0003002 PMID:15256438|PMID:15872200|PMID:16472587|PMID:18602922|PMID:20186688|PMID:21376568|PMID:22081473|PMID:22658618|PMID:24362816|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27435373|PMID:28492532|PMID:28874130|PMID:30077346|PMID:31883735|PMID:31942411|PMID:31992580|PMID:36169650|PMID:36644715|RGD:8554872 IAGP RGD:8593995 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260707 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:16199547|PMID:21376568|PMID:24362816|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150408768 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240109 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:14702431 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:20205264|PMID:23960188|PMID:24351291|PMID:25741868|PMID:25964535|PMID:28492532|PMID:28765196|PMID:29887214|RGD:8554872 IAGP RGD:8689728 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:20698049|PMID:24027009|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8604842 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260602 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:21376568|PMID:24362816|PMID:26845104|PMID:28381238|PMID:28492532|RGD:8554872 IAGP RGD:11050260 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:22703879|PMID:23376243|PMID:24033266|PMID:25151201|PMID:25186627|PMID:25479140|PMID:25741868|PMID:25801821|PMID:26467025|PMID:28492532|PMID:33471991|RGD:8554872 IAGP RGD:8604860 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260707 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|PMID:26467025|PMID:26888055|PMID:28135145|PMID:28492532|RGD:8554872 IAGP RGD:8696443 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230214 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|RGD:8554872 IAGP RGD:11093133 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|PMID:26467025|PMID:28492532|PMID:35449176|RGD:8554872 IAGP RGD:8692434 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260707 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:9852118 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260707 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|PMID:26483394|PMID:28492532|PMID:29659569|PMID:29887214|PMID:30256826|PMID:30337059|PMID:31916644|RGD:8554872 IAGP RGD:10046730 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20250408 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|PMID:28492532|PMID:32885271|RGD:8554872 IAGP RGD:13821351 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240507 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|PMID:28492532|PMID:34326862|RGD:8554872 IAGP RGD:13473644 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13470185 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13536084 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152979267 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240403 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:21067566 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8689727 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9850611 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9850896 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|RGD:8554872 IAGP RGD:14978025 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|RGD:8554872 IAGP RGD:405687870 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260609 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:25741868|RGD:8554872 IAGP RGD:9834702 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:28492532|RGD:8554872 IAGP RGD:11347995 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0003002 PMID:28492532|RGD:8554872 IAGP RGD:25326376 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240319 ClinVar RGD 1313536 PMS2 HP:0003002 RGD:8554872 IAGP RGD:150414248 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210907 ClinVar RGD 1313536 PMS2 HP:0003003 MIM:619101|ORPHA:144|PMID:17557300|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20251023 HPO RGD 1313536 PMS2 HP:0003003 PMID:10037723|PMID:16338176|PMID:17576681|PMID:20533529|PMID:25741868|PMID:26116798|PMID:26247049|PMID:28218421|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13473996 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240109 ClinVar RGD 1313536 PMS2 HP:0003003 PMID:17576681|PMID:19132747|PMID:20205264|PMID:23012243|PMID:25512458|PMID:25525159|PMID:25741868|PMID:26110232|PMID:26247049|PMID:26467025|PMID:28492532|PMID:35263119|PMID:37534630|PMID:9536098|RGD:8554872 IAGP RGD:11093079 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0003003 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38461716 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0003003 PMID:21376568|PMID:24362816|PMID:25741868|PMID:26110232|PMID:28492532|RGD:8554872 IAGP RGD:9850592 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230425 ClinVar RGD 1313536 PMS2 HP:0003003 PMID:21376568|PMID:24362816|PMID:25741868|PMID:28492532|PMID:29752822|PMID:30376427|PMID:31297337|PMID:35273153|RGD:8554872 IAGP RGD:13786455 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0003003 PMID:25741868|PMID:26467025|PMID:26976419|PMID:28492532|PMID:33471991|PMID:34326862|RGD:8554872 IAGP RGD:10408833 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260616 ClinVar RGD 1313536 PMS2 HP:0003003 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11093918 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240507 ClinVar RGD 1313536 PMS2 HP:0003003 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12893069 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230425 ClinVar RGD 1313536 PMS2 HP:0003003 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14720603 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20250701 ClinVar RGD 1313536 PMS2 HP:0003003 PMID:25741868|RGD:8554872 IAGP RGD:405687870 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260609 ClinVar RGD 1313536 PMS2 HP:0003003 PMID:28492532|RGD:8554872 IAGP RGD:25314915 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20250311 ClinVar RGD 1313536 PMS2 HP:0003003 RGD:8554872 IAGP RGD:736707000 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260707 ClinVar RGD 1313536 PMS2 HP:0003006 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0003401 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0003560 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11096142 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260602 ClinVar RGD 1313536 PMS2 HP:0004374 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0004377 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240118 HPO RGD 1313536 PMS2 HP:0004808 PMID:28492532|RGD:8554872 IAGP RGD:13836082 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0005227 MIM:619101|PMID:7661930|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20251023 HPO RGD 1313536 PMS2 HP:0005978 PMID:28492532|RGD:8554872 IAGP RGD:13521259 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0006483 PMID:25186627|PMID:25741868|PMID:25980754|PMID:27978560|PMID:28492532|PMID:33471991|PMID:38874686|RGD:8554872 IAGP RGD:9854307 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0006716 MIM:614337|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0006725 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0006753 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20251023 HPO RGD 1313536 PMS2 HP:0006758 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240118 HPO RGD 1313536 PMS2 HP:0006774 PMID:25741868|RGD:8554872 IAGP RGD:407424630 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0007018 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0007256 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0007565 MIM:619101|PMID:7661930|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20250912 HPO RGD 1313536 PMS2 HP:0007565 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38461716 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0008069 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240118 HPO RGD 1313536 PMS2 HP:0009592 MIM:619101|PMID:22692065|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20250912 HPO RGD 1313536 PMS2 HP:0009720 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240118 HPO RGD 1313536 PMS2 HP:0009726 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240118 HPO RGD 1313536 PMS2 HP:0010524 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0010526 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0010622 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0010786 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0010786 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26892899 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0011438 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:38461716 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0011797 RGD:8554872 IAGP RGD:243054256 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0012114 MIM:614337|ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20250416 HPO RGD 1313536 PMS2 HP:0012114 PMID:10479499|PMID:14756672|PMID:15521988|PMID:15872200|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:23709753|PMID:25741868|PMID:28492532|PMID:9683794|RGD:8554872 IAGP RGD:8603018 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:10479499|PMID:15256438|PMID:16472587|PMID:16619239|PMID:19132747|PMID:20186688|PMID:20186689|PMID:20205264|PMID:25637381|PMID:25741868|PMID:28492532|PMID:8993976|RGD:8554872 IAGP RGD:8603020 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:10480359|PMID:15256438|PMID:16472587|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8604846 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240507 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:10480359|PMID:15256438|PMID:18178629|PMID:19132747|PMID:20186688|PMID:21239990|PMID:22703879|PMID:22875147|PMID:23017166|PMID:23709753|PMID:24027009|PMID:25741868|PMID:26811195|PMID:27435373|PMID:28492532|RGD:8554872 IAGP RGD:8604841 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260707 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:15256438|PMID:16472587|PMID:16619239|PMID:18268114|PMID:19132747|PMID:20205264|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8993976|RGD:8554872 IAGP RGD:8603023 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:16199547|PMID:21376568|PMID:24362816|PMID:24440087|PMID:25741868|PMID:28492532|PMID:28873162|RGD:8554872 IAGP RGD:13214205 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230214 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:16472587|PMID:16619239|PMID:19132747|PMID:20205264|PMID:22703879|PMID:24027009|PMID:24326041|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24728327|PMID:25117502|PMID:25741868|PMID:26272126|PMID:26483394|PMID:26898890|PMID:27435373|PMID:27930734|PMID:28492532|RGD:8554872 IAGP RGD:8604851 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260707 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:16619239|PMID:20186689|PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8603015 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260602 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:18273873|PMID:18602922|PMID:20531397|PMID:22577899|PMID:23709753|PMID:24027009|PMID:25006859|PMID:25741868|PMID:26467025|PMID:26866578|PMID:28492532|PMID:29333623|RGD:8554872 IAGP RGD:8593966 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20221206 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:19479271|PMID:24027009|PMID:24033266|PMID:25186627|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26467025|PMID:26689913|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29785153|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31391288|PMID:31992580|PMID:34326862|RGD:8554872 IAGP RGD:8658258 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:20186688|PMID:20186689|PMID:24027009|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8603021 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260602 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:21376568|PMID:23012243|PMID:24033266|PMID:24362816|PMID:24728327|PMID:25741868|PMID:26110232|PMID:26467025|PMID:28492532|PMID:28912153|PMID:29345684|PMID:31159747|PMID:31300551|PMID:31992580|PMID:35988656|RGD:8554872 IAGP RGD:8593964 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:23709753|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8603017 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:25741868|PMID:28492532|PMID:29887214|PMID:35451539|PMID:35939113|RGD:8554872 IAGP RGD:13216901 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240507 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:25741868|PMID:28492532|PMID:32547938|RGD:8554872 IAGP RGD:11095827 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20221206 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11095236 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13213366 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:25741868|RGD:8554872 IAGP RGD:13213880 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20250506 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:25741868|RGD:8554872 IAGP RGD:13216482 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240507 ClinVar RGD 1313536 PMS2 HP:0012114 PMID:28492532|RGD:8554872 IAGP RGD:126912569 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230214 ClinVar RGD 1313536 PMS2 HP:0012114 RGD:8554872 IAGP RGD:126911091 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012114 RGD:8554872 IAGP RGD:126911659 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012114 RGD:8554872 IAGP RGD:126912225 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012114 RGD:8554872 IAGP RGD:126912540 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012114 RGD:8554872 IAGP RGD:126913690 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012114 RGD:8554872 IAGP RGD:126914069 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012114 RGD:8554872 IAGP RGD:126914459 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012114 RGD:8554872 IAGP RGD:13215386 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012114 RGD:8554872 IAGP RGD:13216002 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012114 RGD:8554872 IAGP RGD:13216027 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210511 ClinVar RGD 1313536 PMS2 HP:0012118 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240118 HPO RGD 1313536 PMS2 HP:0012125 PMID:25741868|RGD:8554872 IAGP RGD:736709496 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260707 ClinVar RGD 1313536 PMS2 HP:0012126 PMID:16199547|PMID:1992580|PMID:21376568|PMID:23709753|PMID:24033266|PMID:24362816|PMID:24440087|PMID:25741868|PMID:26247049|PMID:28449805|PMID:28492532|PMID:28640387|PMID:31101557|PMID:31992580|PMID:36988593|RGD:8554872 IAGP RGD:12887738 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230509 ClinVar RGD 1313536 PMS2 HP:0012126 PMID:18602922|PMID:20487569|PMID:23012243|PMID:23709753|PMID:25559809|PMID:25741868|PMID:25980754|PMID:26681312|PMID:26898890|PMID:27064304|PMID:27476653|PMID:28492532|PMID:29625052|PMID:30680046|PMID:34178123|PMID:36988593|RGD:8554872 IAGP RGD:8658253 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240312 ClinVar RGD 1313536 PMS2 HP:0012126 PMID:21261604|PMID:25741868|PMID:25856668|PMID:26110232|PMID:26247049|PMID:28492532|PMID:28514183|PMID:30256826|PMID:35532657|PMID:36988593|RGD:8554872 IAGP RGD:11092931 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260707 ClinVar RGD 1313536 PMS2 HP:0012126 PMID:21376568|PMID:24362816|PMID:25741868|PMID:26467025|PMID:27273229|PMID:28492532|PMID:28975465|PMID:29667044|PMID:30521064|PMID:30729418|PMID:31101557|PMID:31118792|PMID:31992580|PMID:33471991|PMID:36988593|RGD:8554872 IAGP RGD:11095441 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240202 ClinVar RGD 1313536 PMS2 HP:0012126 PMID:21376568|PMID:24362816|PMID:25741868|PMID:26467025|PMID:27589204|PMID:28492532|PMID:31589614|PMID:32794040|PMID:36647049|PMID:36988593|RGD:8554872 IAGP RGD:13435723 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240202 ClinVar RGD 1313536 PMS2 HP:0012126 PMID:21376568|PMID:24362816|PMID:25741868|PMID:28492532|PMID:29348823|PMID:36988593|PMID:36999887|RGD:8554872 IAGP RGD:155713070 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240409 ClinVar RGD 1313536 PMS2 HP:0012126 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10449727 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0012174 MIM:619101|ORPHA:144|PMID:7661930|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20250912 HPO RGD 1313536 PMS2 HP:0012210 PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509|RGD:8554872 IAGP RGD:8658261 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0012378 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0012539 MIM:619101|PMID:22692065|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20250912 HPO RGD 1313536 PMS2 HP:0025318 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:21067566 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0025318 PMID:25741868|RGD:8554872 IAGP RGD:14694308 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0025318 RGD:8554872 IAGP RGD:736707000 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260707 ClinVar RGD 1313536 PMS2 HP:0030075 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11351298 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0030153 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10449727 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0030153 PMID:28492532|RGD:8554872 IAGP RGD:13836082 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0032317 PMID:18178629|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10767653 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260616 ClinVar RGD 1313536 PMS2 HP:0032317 PMID:28492532|RGD:8554872 IAGP RGD:11656301 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0040273 PMID:17016615|PMID:20186688|PMID:22290698|PMID:25741868|PMID:25980754|PMID:26232782|PMID:26467025|PMID:27601186|PMID:27930734|PMID:28492532|PMID:31391288|PMID:31433215|PMID:32720237|PMID:35306340|PMID:37937776|PMID:38851388|PMID:39334433|RGD:8554872 IAGP RGD:9852021 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260707 ClinVar RGD 1313536 PMS2 HP:0040275 PMID:25741868|RGD:8554872 IAGP RGD:14978025 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0100013 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:40815073 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230214 ClinVar RGD 1313536 PMS2 HP:0100013 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9854142 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210323 ClinVar RGD 1313536 PMS2 HP:0100022 PMID:28492532|RGD:8554872 IAGP RGD:8697871 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0100031 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0100242 PMID:28492532|RGD:8554872 IAGP RGD:13836082 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0100522 PMID:28492532|RGD:8554872 IAGP RGD:13836082 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0100522 RGD:8554872 IAGP RGD:713644296 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0100526 PMID:23709753|PMID:25741868|PMID:26110232|PMID:26247049|PMID:26467025|PMID:28492532|PMID:28873162|PMID:30306255|PMID:31992580|PMID:33693762|PMID:34308366|RGD:8554872 IAGP RGD:8594050 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260707 ClinVar RGD 1313536 PMS2 HP:0100540 PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509|RGD:8554872 IAGP RGD:8658261 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0100571 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0100576 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0100613 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0100615 MIM:614337|ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20250416 HPO RGD 1313536 PMS2 HP:0100615 PMID:10480359|PMID:15256438|PMID:16472587|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8604846 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240507 ClinVar RGD 1313536 PMS2 HP:0100615 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:10449963 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210706 ClinVar RGD 1313536 PMS2 HP:0100615 PMID:24728327|PMID:25503501|PMID:25741868|PMID:26467025|PMID:27720647|PMID:28492532|PMID:29570743|PMID:30093976|PMID:30166348|PMID:30521064|PMID:31391288|PMID:32914570|PMID:32980694|PMID:33471991|PMID:34350294|PMID:36243179|PMID:38509102|PMID:38981878|RGD:8554872 IAGP RGD:8658230 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0100615 PMID:25741868|PMID:28492532|PMID:29684080|PMID:29905759|PMID:33471991|PMID:35449176|PMID:36243179|PMID:38358347|PMID:38734621|RGD:8554872 IAGP RGD:10768015 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0100615 PMID:25741868|PMID:28492532|PMID:30521064|PMID:31269945|PMID:31742824|PMID:32068069|PMID:32661327|PMID:34897210|RGD:8554872 IAGP RGD:10768550 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260602 ClinVar RGD 1313536 PMS2 HP:0100615 PMID:25741868|PMID:28492532|PMID:31742824|RGD:8554872 IAGP RGD:150552647 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230411 ClinVar RGD 1313536 PMS2 HP:0100615 PMID:25741868|PMID:28492532|PMID:35171259|PMID:35449176|RGD:8554872 IAGP RGD:8688279 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260602 ClinVar RGD 1313536 PMS2 HP:0100615 PMID:25741868|PMID:28492532|PMID:35449176|PMID:38509102|RGD:8554872 IAGP RGD:13471499 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20250506 ClinVar RGD 1313536 PMS2 HP:0100615 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12900855 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0100615 PMID:25741868|RGD:8554872 IAGP RGD:405151705 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20260519 ClinVar RGD 1313536 PMS2 HP:0100615 RGD:8554872 IAGP RGD:14696420 H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20210323 ClinVar RGD 1313536 PMS2 HP:0100660 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0100684 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20240118 HPO RGD 1313536 PMS2 HP:0100743 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0100835 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313536 PMS2 HP:0200008 ORPHA:144|RGD:8699517 IAGP H PMS1 homolog 2, mismatch repair system component gene taxon:9606 20230821 HPO RGD 1313543 MPHOSPH9 HP:0004808 RGD:8554872 IAGP RGD:714040982 H M-phase phosphoprotein 9 gene taxon:9606 20260519 ClinVar RGD 1313543 MPHOSPH9 HP:0004808 RGD:8554872 IAGP RGD:714104158 H M-phase phosphoprotein 9 gene taxon:9606 20260519 ClinVar RGD 1313543 MPHOSPH9 HP:0006770 RGD:8554872 IAGP RGD:714104158 H M-phase phosphoprotein 9 gene taxon:9606 20260519 ClinVar RGD 1313543 MPHOSPH9 HP:0011797 RGD:8554872 IAGP RGD:714046539 H M-phase phosphoprotein 9 gene taxon:9606 20260519 ClinVar RGD 1313543 MPHOSPH9 HP:0012126 RGD:8554872 IAGP RGD:713985901 H M-phase phosphoprotein 9 gene taxon:9606 20260519 ClinVar RGD 1313543 MPHOSPH9 HP:0100242 RGD:8554872 IAGP RGD:714104158 H M-phase phosphoprotein 9 gene taxon:9606 20260519 ClinVar RGD 1313543 MPHOSPH9 HP:0100522 RGD:8554872 IAGP RGD:714104158 H M-phase phosphoprotein 9 gene taxon:9606 20260519 ClinVar RGD 1313543 MPHOSPH9 HP:0100526 RGD:8554872 IAGP RGD:713677631 H M-phase phosphoprotein 9 gene taxon:9606 20260519 ClinVar RGD 1313543 MPHOSPH9 HP:0100526 RGD:8554872 IAGP RGD:713677648 H M-phase phosphoprotein 9 gene taxon:9606 20260519 ClinVar RGD 1313544 ACSS2 HP:0001402 RGD:8554872 IAGP RGD:713368788 H acyl-CoA synthetase short chain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313544 ACSS2 HP:0001402 RGD:8554872 IAGP RGD:713935272 H acyl-CoA synthetase short chain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313544 ACSS2 HP:0002861 RGD:8554872 IAGP RGD:713961570 H acyl-CoA synthetase short chain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313544 ACSS2 HP:0004808 RGD:8554872 IAGP RGD:713935272 H acyl-CoA synthetase short chain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313544 ACSS2 HP:0007716 RGD:8554872 IAGP RGD:713935272 H acyl-CoA synthetase short chain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313544 ACSS2 HP:0012126 RGD:8554872 IAGP RGD:713776181 H acyl-CoA synthetase short chain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313544 ACSS2 HP:0030153 RGD:8554872 IAGP RGD:713935272 H acyl-CoA synthetase short chain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313544 ACSS2 HP:0100522 RGD:8554872 IAGP RGD:713961526 H acyl-CoA synthetase short chain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313544 ACSS2 HP:0100526 RGD:8554872 IAGP RGD:713935272 H acyl-CoA synthetase short chain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313544 ACSS2 HP:0100526 RGD:8554872 IAGP RGD:713961551 H acyl-CoA synthetase short chain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0000006 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0000154 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0000160 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0000316 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0000322 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0000377 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0000403 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0000445 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0000463 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0000483 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0000486 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0000490 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0000527 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0000577 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:405866583 H ring finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0001250 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0001252 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:40903737 H ring finger protein 2 gene taxon:9606 20260602 ClinVar RGD 1313548 RNF2 HP:0001336 PMID:25741868|RGD:8554872 IAGP RGD:401721000 H ring finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0001347 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0001402 RGD:8554872 IAGP RGD:713764518 H ring finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0001402 RGD:8554872 IAGP RGD:713764624 H ring finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0001402 RGD:8554872 IAGP RGD:713764728 H ring finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0001508 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0001511 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0001511 PMID:25741868|RGD:8554872 IAGP RGD:401721000 H ring finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0001537 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0001562 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0001566 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0001773 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0002023 PMID:25741868|RGD:8554872 IAGP RGD:329848460 H ring finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0002308 PMID:25741868|RGD:8554872 IAGP RGD:329848460 H ring finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0002414 PMID:25741868|RGD:8554872 IAGP RGD:329848460 H ring finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0002553 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:329848460 H ring finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0004808 RGD:8554872 IAGP RGD:713981481 H ring finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0005180 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0005280 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0007651 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0007874 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0008872 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0008947 PMID:25741868|RGD:8554872 IAGP RGD:329848460 H ring finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0010864 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20260209 HPO RGD 1313548 RNF2 HP:0011344 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0011344 PMID:25741868|RGD:8554872 IAGP RGD:329848460 H ring finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0011451 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0011461 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0012471 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313548 RNF2 HP:0045084 PMID:25741868|RGD:8554872 IAGP RGD:401721000 H ring finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0100522 RGD:8554872 IAGP RGD:713478518 H ring finger protein 2 gene taxon:9606 20260519 ClinVar RGD 1313548 RNF2 HP:0200055 MIM:619460|PMID:33864376|RGD:8699517 IAGP H ring finger protein 2 gene taxon:9606 20250912 HPO RGD 1313551 SEMA6A HP:0000823 RGD:8554872 IAGP RGD:401729738 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0001402 RGD:8554872 IAGP RGD:714074221 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0001402 RGD:8554872 IAGP RGD:714074234 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0001402 RGD:8554872 IAGP RGD:714074246 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0002861 RGD:8554872 IAGP RGD:713865622 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0004808 RGD:8554872 IAGP RGD:713451849 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0004808 RGD:8554872 IAGP RGD:713459487 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0006770 RGD:8554872 IAGP RGD:713865715 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0006770 RGD:8554872 IAGP RGD:713865778 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0006770 RGD:8554872 IAGP RGD:713865836 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0007716 RGD:8554872 IAGP RGD:714010947 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0012126 RGD:8554872 IAGP RGD:713463918 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0012126 RGD:8554872 IAGP RGD:713780350 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0030153 RGD:8554872 IAGP RGD:713865653 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0100242 RGD:8554872 IAGP RGD:713865731 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0100522 RGD:8554872 IAGP RGD:713865489 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0100522 RGD:8554872 IAGP RGD:713865585 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313551 SEMA6A HP:0100526 RGD:8554872 IAGP RGD:713459487 H semaphorin 6A gene taxon:9606 20260519 ClinVar RGD 1313552 GTF2H3 HP:0001402 RGD:8554872 IAGP RGD:713351066 H general transcription factor IIH subunit 3 gene taxon:9606 20260519 ClinVar RGD 1313552 GTF2H3 HP:0002861 RGD:8554872 IAGP RGD:713678908 H general transcription factor IIH subunit 3 gene taxon:9606 20260519 ClinVar RGD 1313552 GTF2H3 HP:0002861 RGD:8554872 IAGP RGD:713678922 H general transcription factor IIH subunit 3 gene taxon:9606 20260519 ClinVar RGD 1313552 GTF2H3 HP:0004808 RGD:8554872 IAGP RGD:714041078 H general transcription factor IIH subunit 3 gene taxon:9606 20260519 ClinVar RGD 1313552 GTF2H3 HP:0004808 RGD:8554872 IAGP RGD:714044022 H general transcription factor IIH subunit 3 gene taxon:9606 20260519 ClinVar RGD 1313552 GTF2H3 HP:0012126 RGD:8554872 IAGP RGD:713622977 H general transcription factor IIH subunit 3 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0001402 RGD:8554872 IAGP RGD:713606000 H plexin B2 gene taxon:9606 20260707 ClinVar RGD 1313554 PLXNB2 HP:0001402 RGD:8554872 IAGP RGD:713736987 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0002861 RGD:8554872 IAGP RGD:713768222 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0002861 RGD:8554872 IAGP RGD:713768244 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0002861 RGD:8554872 IAGP RGD:713830910 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0004808 RGD:8554872 IAGP RGD:714195914 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0006770 RGD:8554872 IAGP RGD:713767865 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0006770 RGD:8554872 IAGP RGD:713767981 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0006770 RGD:8554872 IAGP RGD:713768342 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0007716 RGD:8554872 IAGP RGD:713797164 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0012126 RGD:8554872 IAGP RGD:713605903 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0012126 RGD:8554872 IAGP RGD:713605919 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0012126 RGD:8554872 IAGP RGD:713605934 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0012126 RGD:8554872 IAGP RGD:713605982 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0012126 RGD:8554872 IAGP RGD:713606000 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0030359 RGD:8554872 IAGP RGD:713768108 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0100242 RGD:8554872 IAGP RGD:405651801 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0100242 RGD:8554872 IAGP RGD:713768597 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0100522 RGD:8554872 IAGP RGD:713768458 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0100526 RGD:8554872 IAGP RGD:713767950 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0100526 RGD:8554872 IAGP RGD:713768126 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0100526 RGD:8554872 IAGP RGD:713768157 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313554 PLXNB2 HP:0100526 RGD:8554872 IAGP RGD:713768412 H plexin B2 gene taxon:9606 20260519 ClinVar RGD 1313556 MSC HP:0001402 RGD:8554872 IAGP RGD:714156388 H musculin gene taxon:9606 20260519 ClinVar RGD 1313558 MIS18BP1 HP:0001402 RGD:8554872 IAGP RGD:714158621 H MIS18 binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313558 MIS18BP1 HP:0002861 RGD:8554872 IAGP RGD:714211707 H MIS18 binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313558 MIS18BP1 HP:0002861 RGD:8554872 IAGP RGD:714211712 H MIS18 binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313558 MIS18BP1 HP:0002861 RGD:8554872 IAGP RGD:714211726 H MIS18 binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313558 MIS18BP1 HP:0004808 RGD:8554872 IAGP RGD:714159434 H MIS18 binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313558 MIS18BP1 HP:0011797 RGD:8554872 IAGP RGD:714162160 H MIS18 binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313558 MIS18BP1 HP:0012126 RGD:8554872 IAGP RGD:713955959 H MIS18 binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313558 MIS18BP1 HP:0100242 RGD:8554872 IAGP RGD:713955961 H MIS18 binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313558 MIS18BP1 HP:0100526 RGD:8554872 IAGP RGD:714160751 H MIS18 binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313560 COTL1 HP:0002861 RGD:8554872 IAGP RGD:713996913 H coactosin like F-actin binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313560 COTL1 HP:0002861 RGD:8554872 IAGP RGD:713996920 H coactosin like F-actin binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313560 COTL1 HP:0002861 RGD:8554872 IAGP RGD:713996955 H coactosin like F-actin binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313560 COTL1 HP:0004808 RGD:8554872 IAGP RGD:713666006 H coactosin like F-actin binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313560 COTL1 HP:0012126 RGD:8554872 IAGP RGD:714132545 H coactosin like F-actin binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313560 COTL1 HP:0100526 RGD:8554872 IAGP RGD:713996982 H coactosin like F-actin binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313564 FAM204A HP:0004808 RGD:8554872 IAGP RGD:713777483 H family with sequence similarity 204 member A gene taxon:9606 20260519 ClinVar RGD 1313564 FAM204A HP:0100242 RGD:8554872 IAGP RGD:713735647 H family with sequence similarity 204 member A gene taxon:9606 20260519 ClinVar RGD 1313564 FAM204A HP:0100526 RGD:8554872 IAGP RGD:713360451 H family with sequence similarity 204 member A gene taxon:9606 20260519 ClinVar RGD 1313566 TUFM HP:0000007 MIM:610678|PMID:17160893|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20250912 HPO RGD 1313566 TUFM HP:0000252 MIM:610678|PMID:17160893|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20250912 HPO RGD 1313566 TUFM HP:0000639 MIM:610678|PMID:17160893|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20250912 HPO RGD 1313566 TUFM HP:0001257 MIM:610678|PMID:17160893|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20250912 HPO RGD 1313566 TUFM HP:0001298 MIM:610678|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20230821 HPO RGD 1313566 TUFM HP:0001319 MIM:610678|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20230821 HPO RGD 1313566 TUFM HP:0001511 MIM:610678|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20230821 HPO RGD 1313566 TUFM HP:0001522 MIM:610678|PMID:17160893|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20250912 HPO RGD 1313566 TUFM HP:0001942 MIM:610678|PMID:17160893|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20250912 HPO RGD 1313566 TUFM HP:0001987 MIM:610678|PMID:17160893|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20250912 HPO RGD 1313566 TUFM HP:0002126 MIM:610678|PMID:17160893|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20250912 HPO RGD 1313566 TUFM HP:0002151 MIM:610678|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20240307 HPO RGD 1313566 TUFM HP:0002179 MIM:610678|PMID:17160893|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20250912 HPO RGD 1313566 TUFM HP:0002240 MIM:610678|PMID:17160893|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20250912 HPO RGD 1313566 TUFM HP:0002376 MIM:610678|PMID:17160893|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20250912 HPO RGD 1313566 TUFM HP:0002415 MIM:610678|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20230821 HPO RGD 1313566 TUFM HP:0002861 RGD:8554872 IAGP RGD:713691231 H Tu translation elongation factor, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313566 TUFM HP:0002878 MIM:610678|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20230821 HPO RGD 1313566 TUFM HP:0003128 MIM:610678|PMID:17160893|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20250912 HPO RGD 1313566 TUFM HP:0003128 PMID:17160893|PMID:19524667|PMID:20435138|PMID:28492532|PMID:33629572|PMID:38630895|RGD:8554872 IAGP RGD:8559796 H Tu translation elongation factor, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313566 TUFM HP:0003593 MIM:610678|RGD:8699517 IAGP H Tu translation elongation factor, mitochondrial gene taxon:9606 20230821 HPO RGD 1313566 TUFM HP:0006770 RGD:8554872 IAGP RGD:713691269 H Tu translation elongation factor, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313566 TUFM HP:0006770 RGD:8554872 IAGP RGD:713691304 H Tu translation elongation factor, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313566 TUFM HP:0011797 RGD:8554872 IAGP RGD:713629790 H Tu translation elongation factor, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313566 TUFM HP:0100242 RGD:8554872 IAGP RGD:713691243 H Tu translation elongation factor, mitochondrial gene taxon:9606 20260519 ClinVar RGD 1313568 XRRA1 HP:0002861 RGD:8554872 IAGP RGD:713409343 H X-ray radiation resistance associated 1 gene taxon:9606 20260519 ClinVar RGD 1313568 XRRA1 HP:0002861 RGD:8554872 IAGP RGD:713409428 H X-ray radiation resistance associated 1 gene taxon:9606 20260519 ClinVar RGD 1313568 XRRA1 HP:0003003 RGD:8554872 IAGP RGD:714101635 H X-ray radiation resistance associated 1 gene taxon:9606 20260519 ClinVar RGD 1313568 XRRA1 HP:0004808 RGD:8554872 IAGP RGD:714101635 H X-ray radiation resistance associated 1 gene taxon:9606 20260519 ClinVar RGD 1313568 XRRA1 HP:0004808 RGD:8554872 IAGP RGD:714103091 H X-ray radiation resistance associated 1 gene taxon:9606 20260519 ClinVar RGD 1313568 XRRA1 HP:0004808 RGD:8554872 IAGP RGD:714103097 H X-ray radiation resistance associated 1 gene taxon:9606 20260519 ClinVar RGD 1313568 XRRA1 HP:0006770 RGD:8554872 IAGP RGD:713409154 H X-ray radiation resistance associated 1 gene taxon:9606 20260519 ClinVar RGD 1313568 XRRA1 HP:0006770 RGD:8554872 IAGP RGD:713409210 H X-ray radiation resistance associated 1 gene taxon:9606 20260519 ClinVar RGD 1313568 XRRA1 HP:0006770 RGD:8554872 IAGP RGD:713409457 H X-ray radiation resistance associated 1 gene taxon:9606 20260519 ClinVar RGD 1313568 XRRA1 HP:0030153 RGD:8554872 IAGP RGD:713409232 H X-ray radiation resistance associated 1 gene taxon:9606 20260519 ClinVar RGD 1313568 XRRA1 HP:0100242 RGD:8554872 IAGP RGD:714101635 H X-ray radiation resistance associated 1 gene taxon:9606 20260519 ClinVar RGD 1313568 XRRA1 HP:0100522 RGD:8554872 IAGP RGD:714101635 H X-ray radiation resistance associated 1 gene taxon:9606 20260519 ClinVar RGD 1313568 XRRA1 HP:0100526 RGD:8554872 IAGP RGD:713409577 H X-ray radiation resistance associated 1 gene taxon:9606 20260519 ClinVar RGD 1313568 XRRA1 HP:0100526 RGD:8554872 IAGP RGD:714101635 H X-ray radiation resistance associated 1 gene taxon:9606 20260519 ClinVar RGD 1313570 ADCK5 HP:0001402 RGD:8554872 IAGP RGD:713769445 H aarF domain containing kinase 5 gene taxon:9606 20260519 ClinVar RGD 1313570 ADCK5 HP:0001402 RGD:8554872 IAGP RGD:713769459 H aarF domain containing kinase 5 gene taxon:9606 20260519 ClinVar RGD 1313570 ADCK5 HP:0001402 RGD:8554872 IAGP RGD:713769477 H aarF domain containing kinase 5 gene taxon:9606 20260519 ClinVar RGD 1313570 ADCK5 HP:0002861 RGD:8554872 IAGP RGD:714097379 H aarF domain containing kinase 5 gene taxon:9606 20260519 ClinVar RGD 1313570 ADCK5 HP:0004808 RGD:8554872 IAGP RGD:713491771 H aarF domain containing kinase 5 gene taxon:9606 20260519 ClinVar RGD 1313570 ADCK5 HP:0012126 RGD:8554872 IAGP RGD:713671461 H aarF domain containing kinase 5 gene taxon:9606 20260519 ClinVar RGD 1313570 ADCK5 HP:0012126 RGD:8554872 IAGP RGD:713671472 H aarF domain containing kinase 5 gene taxon:9606 20260519 ClinVar RGD 1313570 ADCK5 HP:0100526 RGD:8554872 IAGP RGD:714097388 H aarF domain containing kinase 5 gene taxon:9606 20260519 ClinVar RGD 1313572 KCTD15 HP:0002861 RGD:8554872 IAGP RGD:713354207 H potassium channel tetramerization domain containing 15 gene taxon:9606 20260519 ClinVar RGD 1313572 KCTD15 HP:0004808 RGD:8554872 IAGP RGD:714270376 H potassium channel tetramerization domain containing 15 gene taxon:9606 20260519 ClinVar RGD 1313572 KCTD15 HP:0030153 RGD:8554872 IAGP RGD:713354219 H potassium channel tetramerization domain containing 15 gene taxon:9606 20260519 ClinVar RGD 1313572 KCTD15 HP:0100242 RGD:8554872 IAGP RGD:713354179 H potassium channel tetramerization domain containing 15 gene taxon:9606 20260519 ClinVar RGD 1313572 KCTD15 HP:0100526 RGD:8554872 IAGP RGD:713354235 H potassium channel tetramerization domain containing 15 gene taxon:9606 20260519 ClinVar RGD 1313575 DNPEP HP:0003003 RGD:8554872 IAGP RGD:713825064 H aspartyl aminopeptidase gene taxon:9606 20260519 ClinVar RGD 1313575 DNPEP HP:0006770 RGD:8554872 IAGP RGD:713824892 H aspartyl aminopeptidase gene taxon:9606 20260519 ClinVar RGD 1313575 DNPEP HP:0006770 RGD:8554872 IAGP RGD:713824909 H aspartyl aminopeptidase gene taxon:9606 20260519 ClinVar RGD 1313575 DNPEP HP:0012126 RGD:8554872 IAGP RGD:713509197 H aspartyl aminopeptidase gene taxon:9606 20260519 ClinVar RGD 1313575 DNPEP HP:0100242 RGD:8554872 IAGP RGD:713824994 H aspartyl aminopeptidase gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0000218 RGD:8554872 IAGP RGD:714110747 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0000308 RGD:8554872 IAGP RGD:714110747 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0000316 RGD:8554872 IAGP RGD:714110747 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0000639 RGD:8554872 IAGP RGD:714110747 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0001252 RGD:8554872 IAGP RGD:714110747 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0001263 RGD:8554872 IAGP RGD:714110747 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0001631 RGD:8554872 IAGP RGD:714110747 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0002093 RGD:8554872 IAGP RGD:714110747 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0006770 RGD:8554872 IAGP RGD:714050678 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0006770 RGD:8554872 IAGP RGD:714187966 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0006770 RGD:8554872 IAGP RGD:714188008 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0012098 RGD:8554872 IAGP RGD:714110747 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0030153 RGD:8554872 IAGP RGD:713790700 H SUMO specific peptidase 7 gene taxon:9606 20260707 ClinVar RGD 1313579 SENP7 HP:0030359 RGD:8554872 IAGP RGD:714188022 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0030359 RGD:8554872 IAGP RGD:714188033 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0100526 RGD:8554872 IAGP RGD:714187962 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0100526 RGD:8554872 IAGP RGD:714187984 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0100526 RGD:8554872 IAGP RGD:714187990 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0100615 RGD:8554872 IAGP RGD:714050678 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313579 SENP7 HP:0100615 RGD:8554872 IAGP RGD:714114753 H SUMO specific peptidase 7 gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0001402 RGD:8554872 IAGP RGD:713356295 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0002665 RGD:8554872 IAGP RGD:713356305 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0004808 RGD:8554872 IAGP RGD:713621354 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0004808 RGD:8554872 IAGP RGD:713633658 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0006770 RGD:8554872 IAGP RGD:713708337 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0011797 RGD:8554872 IAGP RGD:713630092 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0012126 RGD:8554872 IAGP RGD:714125995 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0012126 RGD:8554872 IAGP RGD:714126072 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0012126 RGD:8554872 IAGP RGD:714126097 H periplakin gene taxon:9606 20260707 ClinVar RGD 1313581 PPL HP:0030153 RGD:8554872 IAGP RGD:713631796 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0100242 RGD:8554872 IAGP RGD:713631796 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0100242 RGD:8554872 IAGP RGD:713708173 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0100242 RGD:8554872 IAGP RGD:714126010 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0100242 RGD:8554872 IAGP RGD:714126097 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0100522 RGD:8554872 IAGP RGD:714126097 H periplakin gene taxon:9606 20260707 ClinVar RGD 1313581 PPL HP:0100526 RGD:8554872 IAGP RGD:713631796 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0100526 RGD:8554872 IAGP RGD:713708126 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0100526 RGD:8554872 IAGP RGD:713708137 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0100526 RGD:8554872 IAGP RGD:714125979 H periplakin gene taxon:9606 20260519 ClinVar RGD 1313581 PPL HP:0100526 RGD:8554872 IAGP RGD:714126097 H periplakin gene taxon:9606 20260707 ClinVar RGD 1313583 FAM3D HP:0012126 RGD:8554872 IAGP RGD:713940971 H FAM3 metabolism regulating signaling molecule D gene taxon:9606 20260519 ClinVar RGD 1313583 FAM3D HP:0012126 RGD:8554872 IAGP RGD:713940982 H FAM3 metabolism regulating signaling molecule D gene taxon:9606 20260519 ClinVar RGD 1313583 FAM3D HP:0030153 RGD:8554872 IAGP RGD:713386792 H FAM3 metabolism regulating signaling molecule D gene taxon:9606 20260519 ClinVar RGD 1313589 CABLES1 HP:0001402 RGD:8554872 IAGP RGD:713732077 H Cdk5 and Abl enzyme substrate 1 gene taxon:9606 20260519 ClinVar RGD 1313589 CABLES1 HP:0002861 RGD:8554872 IAGP RGD:713713011 H Cdk5 and Abl enzyme substrate 1 gene taxon:9606 20260519 ClinVar RGD 1313589 CABLES1 HP:0002861 RGD:8554872 IAGP RGD:713731740 H Cdk5 and Abl enzyme substrate 1 gene taxon:9606 20260519 ClinVar RGD 1313589 CABLES1 HP:0004808 RGD:8554872 IAGP RGD:713713011 H Cdk5 and Abl enzyme substrate 1 gene taxon:9606 20260519 ClinVar RGD 1313589 CABLES1 HP:0004808 RGD:8554872 IAGP RGD:713930904 H Cdk5 and Abl enzyme substrate 1 gene taxon:9606 20260519 ClinVar RGD 1313589 CABLES1 HP:0004808 RGD:8554872 IAGP RGD:714184614 H Cdk5 and Abl enzyme substrate 1 gene taxon:9606 20260519 ClinVar RGD 1313589 CABLES1 HP:0004808 RGD:8554872 IAGP RGD:714184629 H Cdk5 and Abl enzyme substrate 1 gene taxon:9606 20260519 ClinVar RGD 1313589 CABLES1 HP:0006770 RGD:8554872 IAGP RGD:713713011 H Cdk5 and Abl enzyme substrate 1 gene taxon:9606 20260519 ClinVar RGD 1313589 CABLES1 HP:0012126 RGD:8554872 IAGP RGD:713713011 H Cdk5 and Abl enzyme substrate 1 gene taxon:9606 20260519 ClinVar RGD 1313589 CABLES1 HP:0100242 RGD:8554872 IAGP RGD:713713011 H Cdk5 and Abl enzyme substrate 1 gene taxon:9606 20260519 ClinVar RGD 1313589 CABLES1 HP:0100242 RGD:8554872 IAGP RGD:713731761 H Cdk5 and Abl enzyme substrate 1 gene taxon:9606 20260519 ClinVar RGD 1313589 CABLES1 HP:0100522 RGD:8554872 IAGP RGD:714184622 H Cdk5 and Abl enzyme substrate 1 gene taxon:9606 20260519 ClinVar RGD 1313591 MRPS28 HP:0000007 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0000028 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0000252 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0000311 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0000343 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0000358 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0000369 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0000407 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0000470 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0000508 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0000518 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0000926 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0001290 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0001508 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0001511 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0001770 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0001942 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0001943 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0001944 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0002015 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0002151 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0002240 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0002910 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0004279 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313591 MRPS28 HP:0010248 MIM:618958|PMID:30566640|RGD:8699517 IAGP H mitochondrial ribosomal protein S28 gene taxon:9606 20250912 HPO RGD 1313593 MAML2 HP:0006725 RGD:8554872 IAGP RGD:713428722 H mastermind like transcriptional coactivator 2 gene taxon:9606 20260519 ClinVar RGD 1313593 MAML2 HP:0006770 RGD:8554872 IAGP RGD:713428670 H mastermind like transcriptional coactivator 2 gene taxon:9606 20260519 ClinVar RGD 1313593 MAML2 HP:0030153 RGD:8554872 IAGP RGD:713428814 H mastermind like transcriptional coactivator 2 gene taxon:9606 20260519 ClinVar RGD 1313593 MAML2 HP:0030359 RGD:8554872 IAGP RGD:713428824 H mastermind like transcriptional coactivator 2 gene taxon:9606 20260519 ClinVar RGD 1313595 AAK1 HP:0001402 RGD:8554872 IAGP RGD:713520744 H AP2 associated kinase 1 gene taxon:9606 20260707 ClinVar RGD 1313595 AAK1 HP:0004808 RGD:8554872 IAGP RGD:713790762 H AP2 associated kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313595 AAK1 HP:0004808 RGD:8554872 IAGP RGD:713793181 H AP2 associated kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313595 AAK1 HP:0004808 RGD:8554872 IAGP RGD:713796231 H AP2 associated kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313595 AAK1 HP:0004808 RGD:8554872 IAGP RGD:714041736 H AP2 associated kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313595 AAK1 HP:0006770 RGD:8554872 IAGP RGD:713669029 H AP2 associated kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313595 AAK1 HP:0006770 RGD:8554872 IAGP RGD:713669200 H AP2 associated kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313595 AAK1 HP:0009804 RGD:8554872 IAGP RGD:21070735 H AP2 associated kinase 1 gene taxon:9606 20210323 ClinVar RGD 1313595 AAK1 HP:0011797 RGD:8554872 IAGP RGD:713796245 H AP2 associated kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313595 AAK1 HP:0012126 RGD:8554872 IAGP RGD:713520764 H AP2 associated kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313595 AAK1 HP:0030153 RGD:8554872 IAGP RGD:713668931 H AP2 associated kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313595 AAK1 HP:0100242 RGD:8554872 IAGP RGD:713669038 H AP2 associated kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313595 AAK1 HP:0100522 RGD:8554872 IAGP RGD:713668881 H AP2 associated kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313595 AAK1 HP:0100522 RGD:8554872 IAGP RGD:713668997 H AP2 associated kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313596 GNPDA2 HP:0002861 RGD:8554872 IAGP RGD:714187968 H glucosamine-6-phosphate deaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313596 GNPDA2 HP:0012126 RGD:8554872 IAGP RGD:713774221 H glucosamine-6-phosphate deaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313596 GNPDA2 HP:0100526 RGD:8554872 IAGP RGD:713774176 H glucosamine-6-phosphate deaminase 2 gene taxon:9606 20260519 ClinVar RGD 1313605 FBXL12 HP:0004808 RGD:8554872 IAGP RGD:713839528 H F-box and leucine rich repeat protein 12 gene taxon:9606 20260519 ClinVar RGD 1313608 CCL25 HP:0030153 RGD:8554872 IAGP RGD:713688351 H C-C motif chemokine ligand 25 gene taxon:9606 20260519 ClinVar RGD 1313610 HSPA12A HP:0002861 RGD:8554872 IAGP RGD:713359516 H heat shock protein family A (Hsp70) member 12A gene taxon:9606 20260519 ClinVar RGD 1313610 HSPA12A HP:0006770 RGD:8554872 IAGP RGD:713359586 H heat shock protein family A (Hsp70) member 12A gene taxon:9606 20260519 ClinVar RGD 1313610 HSPA12A HP:0100526 RGD:8554872 IAGP RGD:713359553 H heat shock protein family A (Hsp70) member 12A gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0000028 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0000278 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0000316 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0000384 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0000527 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0000664 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0000678 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0000957 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0001212 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0001402 RGD:8554872 IAGP RGD:714087388 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0002019 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0002020 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0002027 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0002553 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0002719 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0002761 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0003003 RGD:8554872 IAGP RGD:713777912 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0004209 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0007018 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0010055 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0011471 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0012126 RGD:8554872 IAGP RGD:713717055 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0025575 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0100242 RGD:8554872 IAGP RGD:713717187 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0100526 RGD:8554872 IAGP RGD:713496851 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313612 RBBP5 HP:0100543 PMID:25741868|RGD:8554872 IAGP RGD:596941582 H RB binding protein 5, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0000007 MIM:241410|MIM:244460|MIM:617207|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20260209 HPO RGD 1313614 TBCE HP:0000028 MIM:241410|ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0000054 MIM:241410|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0000164 ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0000193 MIM:241410|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20260209 HPO RGD 1313614 TBCE HP:0000219 MIM:241410|PMID:26336027|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0000233 MIM:241410|ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0000252 MIM:241410|ORPHA:2323|ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20260209 HPO RGD 1313614 TBCE HP:0000270 ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0000293 ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0000316 MIM:244460|ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0000343 MIM:241410|ORPHA:2323|PMID:26336027|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20260209 HPO RGD 1313614 TBCE HP:0000347 MIM:241410|ORPHA:2323|PMID:26336027|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0000348 ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0000358 MIM:241410|ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0000369 MIM:241410|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0000377 ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20240208 HPO RGD 1313614 TBCE HP:0000444 MIM:241410|ORPHA:2323|PMID:26336027|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0000483 ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0000490 MIM:241410|ORPHA:2323|PMID:26336027|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0000518 PMID:25741868|RGD:8554872 IAGP RGD:151348372 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0000568 MIM:241410|PMID:26336027|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0000568 PMID:25741868|RGD:8554872 IAGP RGD:151348372 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0000648 MIM:617207|ORPHA:496756|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0000670 MIM:244460|ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20251023 HPO RGD 1313614 TBCE HP:0000682 ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0000824 MIM:241410|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0000829 ORPHA:2323|ORPHA:496756|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0000883 MIM:244460|ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0000890 MIM:244460|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0001249 MIM:241410|MIM:617207|ORPHA:2323|ORPHA:496756|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20260209 HPO RGD 1313614 TBCE HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:151348372 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0001250 MIM:241410|MIM:244460|MIM:617207|ORPHA:2323|ORPHA:496756|PMID:26336027|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0001251 MIM:617207|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0001257 MIM:617207|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0001260 MIM:617207|ORPHA:496756|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0001263 MIM:617207|ORPHA:496756|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20260209 HPO RGD 1313614 TBCE HP:0001272 MIM:617207|ORPHA:496756|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0001272 PMID:25741868|RGD:8554872 IAGP RGD:151348372 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0001273 PMID:25741868|RGD:8554872 IAGP RGD:151348372 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0001281 MIM:241410|MIM:244460|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0001285 ORPHA:496756|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0001290 MIM:617207|ORPHA:496756|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0001298 MIM:617207|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0001344 MIM:617207|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0001402 RGD:8554872 IAGP RGD:713730591 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0001402 RGD:8554872 IAGP RGD:713730712 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0001476 MIM:244460|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0001507 MIM:617207|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0001510 ORPHA:496756|ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0001511 MIM:244460|ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20260209 HPO RGD 1313614 TBCE HP:0001631 PMID:25741868|RGD:8554872 IAGP RGD:151348372 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0001773 MIM:241410|MIM:244460|ORPHA:2323|ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20260209 HPO RGD 1313614 TBCE HP:0001824 PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|RGD:8554872 IAGP RGD:14692960 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0001890 PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|RGD:8554872 IAGP RGD:14692960 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0001903 MIM:244460|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20251023 HPO RGD 1313614 TBCE HP:0001999 PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|RGD:8554872 IAGP RGD:14692960 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0002007 MIM:241410|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0002079 MIM:241410|MIM:617207|ORPHA:496756|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0002090 PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|RGD:8554872 IAGP RGD:14692960 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0002110 PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|RGD:8554872 IAGP RGD:14692960 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0002119 MIM:241410|ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0002197 PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|RGD:8554872 IAGP RGD:14692960 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0002199 MIM:241410|ORPHA:93324|PMID:26336027|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0002205 ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0002242 PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|RGD:8554872 IAGP RGD:14692960 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0002376 ORPHA:496756|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0002425 ORPHA:496756|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0002448 ORPHA:496756|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0002497 ORPHA:496756|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0002510 MIM:617207|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0002650 MIM:617207|ORPHA:496756|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20251023 HPO RGD 1313614 TBCE HP:0002665 RGD:8554872 IAGP RGD:714079051 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0002718 MIM:241410|MIM:244460|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0002721 PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|RGD:8554872 IAGP RGD:14692960 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0002750 MIM:241410|MIM:244460|ORPHA:2323|ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0002901 MIM:241410|MIM:244460|ORPHA:2323|ORPHA:93324|PMID:26336027|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0002905 MIM:241410|ORPHA:2323|PMID:26336027|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0002917 MIM:244460|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0002960 PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|RGD:8554872 IAGP RGD:14692960 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0003100 MIM:244460|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0003121 PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|RGD:8554872 IAGP RGD:14692960 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0003198 ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0003416 ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0003444 ORPHA:496756|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0003472 ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0003477 MIM:617207|ORPHA:496756|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0003508 MIM:244460|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0003561 MIM:244460|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0003577 MIM:241410|MIM:617207|PMID:26336027|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0003593 MIM:617207|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0003676 MIM:617207|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0003693 MIM:617207|ORPHA:496756|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0003698 ORPHA:496756|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0004279 MIM:241410|MIM:244460|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0004313 PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|RGD:8554872 IAGP RGD:14692960 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0004322 ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0004331 MIM:244460|ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0005214 ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0005280 MIM:241410|ORPHA:2323|PMID:26336027|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20260209 HPO RGD 1313614 TBCE HP:0005374 ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0005450 MIM:244460|ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0005484 PMID:25741868|RGD:8554872 IAGP RGD:151348372 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0005523 PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|RGD:8554872 IAGP RGD:14692960 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0005686 MIM:241410|ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0005791 ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20251023 HPO RGD 1313614 TBCE HP:0006470 ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0006645 MIM:244460|ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0006770 PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|RGD:8554872 IAGP RGD:14692960 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0007199 ORPHA:496756|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0007269 MIM:617207|ORPHA:496756|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0007957 ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0008056 ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0008198 MIM:241410|MIM:244460|ORPHA:2323|ORPHA:93324|PMID:26336027|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0008736 ORPHA:2323|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0008846 MIM:241410|ORPHA:2323|PMID:26336027|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0008897 MIM:241410|ORPHA:2323|ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20260209 HPO RGD 1313614 TBCE HP:0008936 MIM:241410|PMID:26336027|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0009027 MIM:617207|ORPHA:496756|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0011220 MIM:241410|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0011463 MIM:617207|PMID:27666369|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0012126 RGD:8554872 IAGP RGD:405791172 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0012448 MIM:241410|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0012678 ORPHA:496756|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0020071 PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|RGD:8554872 IAGP RGD:14692960 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0030153 RGD:8554872 IAGP RGD:714079359 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0031817 MIM:241410|PMID:26336027|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250912 HPO RGD 1313614 TBCE HP:0040313 PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|RGD:8554872 IAGP RGD:14692960 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0100254 ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20230821 HPO RGD 1313614 TBCE HP:0100522 RGD:8554872 IAGP RGD:150339943 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0100526 RGD:8554872 IAGP RGD:714079189 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313614 TBCE HP:0200055 MIM:241410|MIM:244460|ORPHA:2323|ORPHA:93324|RGD:8699517 IAGP H tubulin folding cofactor E gene taxon:9606 20250416 HPO RGD 1313614 TBCE HP:0200055 RGD:8554872 IAGP RGD:13532210 H tubulin folding cofactor E gene taxon:9606 20260519 ClinVar RGD 1313616 DOP1A HP:0001402 RGD:8554872 IAGP RGD:713715763 H DOP1 leucine zipper like protein A gene taxon:9606 20260519 ClinVar RGD 1313616 DOP1A HP:0002861 RGD:8554872 IAGP RGD:713480940 H DOP1 leucine zipper like protein A gene taxon:9606 20260519 ClinVar RGD 1313616 DOP1A HP:0002861 RGD:8554872 IAGP RGD:713480969 H DOP1 leucine zipper like protein A gene taxon:9606 20260519 ClinVar RGD 1313616 DOP1A HP:0002861 RGD:8554872 IAGP RGD:713715714 H DOP1 leucine zipper like protein A gene taxon:9606 20260707 ClinVar RGD 1313616 DOP1A HP:0004808 RGD:8554872 IAGP RGD:713715714 H DOP1 leucine zipper like protein A gene taxon:9606 20260707 ClinVar RGD 1313616 DOP1A HP:0004808 RGD:8554872 IAGP RGD:713715763 H DOP1 leucine zipper like protein A gene taxon:9606 20260519 ClinVar RGD 1313616 DOP1A HP:0004808 RGD:8554872 IAGP RGD:713719620 H DOP1 leucine zipper like protein A gene taxon:9606 20260519 ClinVar RGD 1313616 DOP1A HP:0004808 RGD:8554872 IAGP RGD:713723527 H DOP1 leucine zipper like protein A gene taxon:9606 20260519 ClinVar RGD 1313616 DOP1A HP:0006725 RGD:8554872 IAGP RGD:713480916 H DOP1 leucine zipper like protein A gene taxon:9606 20260519 ClinVar RGD 1313616 DOP1A HP:0006770 RGD:8554872 IAGP RGD:713480759 H DOP1 leucine zipper like protein A gene taxon:9606 20260519 ClinVar RGD 1313616 DOP1A HP:0006770 RGD:8554872 IAGP RGD:713715763 H DOP1 leucine zipper like protein A gene taxon:9606 20260519 ClinVar RGD 1313616 DOP1A HP:0012126 RGD:8554872 IAGP RGD:713568809 H DOP1 leucine zipper like protein A gene taxon:9606 20260519 ClinVar RGD 1313616 DOP1A HP:0012126 RGD:8554872 IAGP RGD:713568829 H DOP1 leucine zipper like protein A gene taxon:9606 20260519 ClinVar RGD 1313616 DOP1A HP:0012126 RGD:8554872 IAGP RGD:713715714 H DOP1 leucine zipper like protein A gene taxon:9606 20260519 ClinVar RGD 1313616 DOP1A HP:0030153 RGD:8554872 IAGP RGD:713480824 H DOP1 leucine zipper like protein A gene taxon:9606 20260519 ClinVar RGD 1313616 DOP1A HP:0100242 RGD:8554872 IAGP RGD:713480849 H DOP1 leucine zipper like protein A gene taxon:9606 20260519 ClinVar RGD 1313616 DOP1A HP:0100526 RGD:8554872 IAGP RGD:713480992 H DOP1 leucine zipper like protein A gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0000006 MIM:268000|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20260209 HPO RGD 1313618 ARL6 HP:0000007 MIM:209900|MIM:268000|MIM:600151|MIM:613575|PMID:15258860|PMID:19956407|PMID:9039982|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20260209 HPO RGD 1313618 ARL6 HP:0000011 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000028 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000054 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000076 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000077 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000085 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000089 MIM:600151|PMID:7987310|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0000100 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000119 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000126 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000135 MIM:209900|ORPHA:110|PMID:26762677|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0000137 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000147 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000148 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000163 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000218 MIM:209900|ORPHA:110|PMID:31997113|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0000256 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000278 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000316 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000343 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000358 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240815 HPO RGD 1313618 ARL6 HP:0000365 MIM:209900|ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0000388 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000400 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000405 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000405 PMID:25741868|PMID:27708425|PMID:28492532|PMID:32361989|PMID:34716235|RGD:8554872 IAGP RGD:155799277 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0000407 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000426 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000470 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000478 PMID:15258860|PMID:16199547|PMID:19858128|PMID:20142850|PMID:22334370|PMID:25741868|PMID:27486776|PMID:28492532|PMID:31736247|PMID:38374194|RGD:8554872 IAGP RGD:151349281 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0000483 MIM:209900|ORPHA:110|PMID:22940089|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0000486 MIM:209900|ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0000494 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000501 MIM:209900|ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0000505 MIM:600151|ORPHA:791|PMID:11050632|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0000508 MIM:209900|PMID:22940089|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0000510 MIM:209900|MIM:268000|MIM:600151|MIM:613575|PMID:19956407|PMID:31997113|PMID:34262361|PMID:34526762|PMID:8588586|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20260209 HPO RGD 1313618 ARL6 HP:0000510 PMID:15314642|PMID:19236846|PMID:20498079|PMID:22410627|PMID:25741868|PMID:28492532|PMID:34906470|RGD:8554872 IAGP RGD:8556599 H ARF like GTPase 6 gene taxon:9606 20260707 ClinVar RGD 1313618 ARL6 HP:0000510 PMID:17160889|PMID:20177705|PMID:28492532|RGD:8554872 IAGP RGD:28872729 H ARF like GTPase 6 gene taxon:9606 20241112 ClinVar RGD 1313618 ARL6 HP:0000510 PMID:23219996|PMID:25741868|PMID:28041643|PMID:28492532|PMID:33946315|RGD:8554872 IAGP RGD:13435014 H ARF like GTPase 6 gene taxon:9606 20250211 ClinVar RGD 1313618 ARL6 HP:0000510 PMID:25741868|PMID:27708425|PMID:28492532|PMID:32361989|PMID:34716235|RGD:8554872 IAGP RGD:155799277 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0000510 PMID:25741868|PMID:28492532|PMID:31054281|RGD:8554872 IAGP RGD:150529054 H ARF like GTPase 6 gene taxon:9606 20230110 ClinVar RGD 1313618 ARL6 HP:0000510 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11552487 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127269137 H ARF like GTPase 6 gene taxon:9606 20230110 ClinVar RGD 1313618 ARL6 HP:0000510 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15123510 H ARF like GTPase 6 gene taxon:9606 20230110 ClinVar RGD 1313618 ARL6 HP:0000510 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151790155 H ARF like GTPase 6 gene taxon:9606 20230110 ClinVar RGD 1313618 ARL6 HP:0000510 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28872718 H ARF like GTPase 6 gene taxon:9606 20250211 ClinVar RGD 1313618 ARL6 HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:405688365 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11588593 H ARF like GTPase 6 gene taxon:9606 20241112 ClinVar RGD 1313618 ARL6 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28872726 H ARF like GTPase 6 gene taxon:9606 20230214 ClinVar RGD 1313618 ARL6 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28904459 H ARF like GTPase 6 gene taxon:9606 20210406 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:11584583 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:11586421 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:11586971 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:11587127 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:11590212 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:11593667 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:11648447 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:11655981 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:11659420 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:28872714 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:28872723 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:28872976 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:28872978 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:28879681 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:28879686 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000510 RGD:8554872 IAGP RGD:28880050 H ARF like GTPase 6 gene taxon:9606 20210323 ClinVar RGD 1313618 ARL6 HP:0000512 ORPHA:110|ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0000518 MIM:209900|ORPHA:110|PMID:18669544|PMID:22940089|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0000543 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20260209 HPO RGD 1313618 ARL6 HP:0000545 MIM:209900|PMID:18669544|PMID:22940089|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20260209 HPO RGD 1313618 ARL6 HP:0000545 PMID:25741868|PMID:27708425|PMID:28492532|PMID:32361989|PMID:34716235|RGD:8554872 IAGP RGD:155799277 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0000546 MIM:209900|ORPHA:791|PMID:31997113|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0000548 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000548 PMID:25741868|PMID:27708425|PMID:28492532|PMID:32361989|PMID:34716235|RGD:8554872 IAGP RGD:155799277 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0000548 PMID:25741868|RGD:8554872 IAGP RGD:405688365 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0000551 ORPHA:110|ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0000556 MIM:209900|ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0000556 PMID:15258860|PMID:19858128|PMID:20142850|PMID:22334370|PMID:25525159|PMID:25741868|PMID:27486776|PMID:28492532|PMID:31456290|PMID:31736247|PMID:31964843|RGD:8554872 IAGP RGD:8556597 H ARF like GTPase 6 gene taxon:9606 20250107 ClinVar RGD 1313618 ARL6 HP:0000556 PMID:15314642|PMID:19236846|PMID:20498079|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8556601 H ARF like GTPase 6 gene taxon:9606 20250107 ClinVar RGD 1313618 ARL6 HP:0000556 PMID:17160889|PMID:20177705|PMID:28492532|RGD:8554872 IAGP RGD:28872729 H ARF like GTPase 6 gene taxon:9606 20241112 ClinVar RGD 1313618 ARL6 HP:0000556 PMID:25741868|PMID:28492532|PMID:33090715|RGD:8554872 IAGP RGD:14397206 H ARF like GTPase 6 gene taxon:9606 20250107 ClinVar RGD 1313618 ARL6 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155992516 H ARF like GTPase 6 gene taxon:9606 20250107 ClinVar RGD 1313618 ARL6 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596929570 H ARF like GTPase 6 gene taxon:9606 20241210 ClinVar RGD 1313618 ARL6 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944608 H ARF like GTPase 6 gene taxon:9606 20250107 ClinVar RGD 1313618 ARL6 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944622 H ARF like GTPase 6 gene taxon:9606 20250107 ClinVar RGD 1313618 ARL6 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:713444521 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:126750522 H ARF like GTPase 6 gene taxon:9606 20241112 ClinVar RGD 1313618 ARL6 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:15158621 H ARF like GTPase 6 gene taxon:9606 20240409 ClinVar RGD 1313618 ARL6 HP:0000556 RGD:8554872 IAGP RGD:405264229 H ARF like GTPase 6 gene taxon:9606 20240409 ClinVar RGD 1313618 ARL6 HP:0000563 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000580 MIM:600151|PMID:11050632|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0000602 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000613 ORPHA:110|ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0000618 ORPHA:110|ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0000618 PMID:25741868|RGD:8554872 IAGP RGD:405688365 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0000639 MIM:209900|ORPHA:110|ORPHA:791|PMID:22940089|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0000648 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000648 PMID:25741868|PMID:34828430|RGD:8554872 IAGP RGD:150444809 H ARF like GTPase 6 gene taxon:9606 20260707 ClinVar RGD 1313618 ARL6 HP:0000662 MIM:209900|MIM:268000|MIM:600151|ORPHA:110|ORPHA:791|PMID:11050632|PMID:18669544|PMID:22940089|PMID:34262361|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20260209 HPO RGD 1313618 ARL6 HP:0000668 MIM:209900|ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0000678 MIM:209900|ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0000691 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000708 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000712 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000716 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000717 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000736 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000739 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000750 MIM:209900|ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0000786 MIM:209900|PMID:18669544|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0000789 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000818 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000819 MIM:209900|PMID:34526762|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0000821 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0000822 MIM:209900|ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0000842 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0000855 MIM:209900|ORPHA:110|PMID:31997113|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0000858 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0001007 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0001080 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0001105 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20241212 HPO RGD 1313618 ARL6 HP:0001133 MIM:268000|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20260209 HPO RGD 1313618 ARL6 HP:0001156 MIM:209900|MIM:600151|ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0001159 MIM:209900|ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0001162 MIM:209900|PMID:31997113|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0001162 PMID:25741868|PMID:27708425|PMID:28492532|PMID:32361989|PMID:34716235|RGD:8554872 IAGP RGD:155799277 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0001182 PMID:25741868|PMID:27708425|PMID:28492532|PMID:32361989|PMID:34716235|RGD:8554872 IAGP RGD:155799277 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0001249 MIM:209900|MIM:600151|ORPHA:110|PMID:11050632|PMID:18669544|PMID:22940089|PMID:34526762|PMID:8588586|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0001250 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0001251 MIM:209900|ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0001257 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0001263 MIM:209900|MIM:600151|PMID:22940089|PMID:31997113|PMID:8588586|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0001328 MIM:209900|ORPHA:110|PMID:26762677|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0001382 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0001395 MIM:209900|ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0001397 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0001397 RGD:8554872 IAGP RGD:155796730 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0001402 RGD:8554872 IAGP RGD:713773023 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0001419 MIM:268000|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0001513 MIM:209900|MIM:600151|ORPHA:110|PMID:11050632|PMID:18669544|PMID:22940089|PMID:7987310|PMID:8588586|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0001513 PMID:25741868|PMID:27708425|PMID:28492532|PMID:32361989|PMID:34716235|RGD:8554872 IAGP RGD:155799277 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0001627 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0001638 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0001712 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0001762 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0001769 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0001769 PMID:25741868|PMID:27708425|PMID:28492532|PMID:32361989|PMID:34716235|RGD:8554872 IAGP RGD:155799277 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0001773 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0001829 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0001830 MIM:209900|PMID:34262361|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0001830 PMID:25741868|PMID:27708425|PMID:28492532|PMID:32361989|PMID:34716235|RGD:8554872 IAGP RGD:155799277 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0001831 PMID:25741868|PMID:27708425|PMID:28492532|PMID:32361989|PMID:34716235|RGD:8554872 IAGP RGD:155799277 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0001956 MIM:209900|PMID:34526762|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0002037 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0002099 MIM:209900|ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0002141 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0002155 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0002167 MIM:209900|ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0002230 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0002251 MIM:209900|ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0002311 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20251023 HPO RGD 1313618 ARL6 HP:0002608 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0002650 MIM:209900|PMID:18669544|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0002705 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0002910 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0003077 RGD:8554872 IAGP RGD:401857158 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0003202 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0003233 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0003241 MIM:600151|PMID:8588586|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0003577 MIM:209900|MIM:600151|PMID:11050632|PMID:22940089|PMID:34262361|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0003621 MIM:209900|PMID:18669544|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20260209 HPO RGD 1313618 ARL6 HP:0004322 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0004408 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0004808 RGD:8554872 IAGP RGD:713581208 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0004808 RGD:8554872 IAGP RGD:713581226 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0004808 RGD:8554872 IAGP RGD:713581243 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0004808 RGD:8554872 IAGP RGD:713733159 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0005180 MIM:600151|PMID:7987310|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0005280 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0005562 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0005769 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0005978 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0005978 RGD:8554872 IAGP RGD:155796730 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0006101 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0006770 RGD:8554872 IAGP RGD:713401062 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0007663 MIM:209900|ORPHA:110|ORPHA:791|PMID:18669544|PMID:22940089|PMID:31997113|PMID:34262361|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20260209 HPO RGD 1313618 ARL6 HP:0007675 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0007703 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0007737 MIM:209900|ORPHA:791|PMID:34262361|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20260209 HPO RGD 1313618 ARL6 HP:0007787 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0007843 MIM:209900|ORPHA:791|PMID:31997113|PMID:34262361|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20260209 HPO RGD 1313618 ARL6 HP:0007994 MIM:209900|ORPHA:791|PMID:34262361|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0008046 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0008376 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0008724 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0008734 MIM:209900|ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250416 HPO RGD 1313618 ARL6 HP:0008736 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0008915 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0009381 PMID:25741868|PMID:27708425|PMID:28492532|PMID:32361989|PMID:34716235|RGD:8554872 IAGP RGD:155799277 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0009466 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0009806 MIM:209900|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0010442 PMID:25741868|PMID:27708425|PMID:28492532|PMID:32361989|PMID:34716235|RGD:8554872 IAGP RGD:155799277 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0010621 PMID:25741868|PMID:27708425|PMID:28492532|PMID:32361989|PMID:34716235|RGD:8554872 IAGP RGD:155799277 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0010747 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0010750 MIM:209900|PMID:22940089|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0011024 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0011026 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0011463 MIM:209900|PMID:18669544|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20260209 HPO RGD 1313618 ARL6 HP:0011505 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20241212 HPO RGD 1313618 ARL6 HP:0012384 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0012393 MIM:209900|PMID:26762677|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0012426 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20241212 HPO RGD 1313618 ARL6 HP:0012450 PMID:25741868|PMID:27708425|PMID:28492532|PMID:32361989|PMID:34716235|RGD:8554872 IAGP RGD:155799277 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0012622 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0012743 MIM:209900|PMID:31997113|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0012758 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0025691 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0030010 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0030466 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20241212 HPO RGD 1313618 ARL6 HP:0030488 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20241212 HPO RGD 1313618 ARL6 HP:0030610 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20241212 HPO RGD 1313618 ARL6 HP:0030631 MIM:209900|PMID:31997113|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0030786 ORPHA:791|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0031605 MIM:268000|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20230821 HPO RGD 1313618 ARL6 HP:0100259 MIM:209900|MIM:600151|ORPHA:110|PMID:11050632|PMID:18669544|PMID:22940089|PMID:34526762|PMID:7987310|PMID:8588586|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20250912 HPO RGD 1313618 ARL6 HP:0100526 RGD:8554872 IAGP RGD:713401002 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313618 ARL6 HP:0100543 ORPHA:110|RGD:8699517 IAGP H ARF like GTPase 6 gene taxon:9606 20240118 HPO RGD 1313618 ARL6 HP:0100615 RGD:8554872 IAGP RGD:713400979 H ARF like GTPase 6 gene taxon:9606 20260519 ClinVar RGD 1313623 ANKK1 HP:0000750 RGD:8554872 IAGP RGD:405869485 H ankyrin repeat and kinase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313623 ANKK1 HP:0000750 RGD:8554872 IAGP RGD:405869593 H ankyrin repeat and kinase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313623 ANKK1 HP:0030359 RGD:8554872 IAGP RGD:713416061 H ankyrin repeat and kinase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313623 ANKK1 HP:0100242 RGD:8554872 IAGP RGD:713416034 H ankyrin repeat and kinase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313623 ANKK1 HP:0100522 RGD:8554872 IAGP RGD:713416010 H ankyrin repeat and kinase domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313623 ANKK1 HP:5200329 RGD:401940151|PMID:32889058 IAGP H ankyrin repeat and kinase domain containing 1 gene taxon:9606 20240112 RGD RGD 1313623 ANKK1 HP:5200330 RGD:401959373|PMID:25415204 IAGP H ankyrin repeat and kinase domain containing 1 gene taxon:9606 20240122 RGD RGD 1313623 ANKK1 onset HP:5200330 RGD:401959331|PMID:32745832 IAGP H ankyrin repeat and kinase domain containing 1 gene taxon:9606 20240122 RGD RGD 1313623 ANKK1 susceptibility HP:6000028 RGD:401959296|PMID:21936764 IAGP H ankyrin repeat and kinase domain containing 1 gene taxon:9606 20240118 RGD RGD 1313628 FBL HP:0004808 RGD:8554872 IAGP RGD:714267447 H fibrillarin rRNA 2'-O-methyltransferase gene taxon:9606 20260519 ClinVar RGD 1313628 FBL HP:0004808 RGD:8554872 IAGP RGD:714268940 H fibrillarin rRNA 2'-O-methyltransferase gene taxon:9606 20260519 ClinVar RGD 1313628 FBL HP:0006770 RGD:8554872 IAGP RGD:713376306 H fibrillarin rRNA 2'-O-methyltransferase gene taxon:9606 20260519 ClinVar RGD 1313628 FBL HP:0100522 RGD:8554872 IAGP RGD:713376386 H fibrillarin rRNA 2'-O-methyltransferase gene taxon:9606 20260519 ClinVar RGD 1313628 FBL HP:0100526 RGD:8554872 IAGP RGD:713376283 H fibrillarin rRNA 2'-O-methyltransferase gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0000820 PMID:25741868|RGD:8554872 IAGP RGD:8595407 H WD repeat domain 36 gene taxon:9606 20260602 ClinVar RGD 1313630 WDR36 HP:0000821 PMID:25741868|RGD:8554872 IAGP RGD:8595407 H WD repeat domain 36 gene taxon:9606 20260602 ClinVar RGD 1313630 WDR36 HP:0000851 PMID:25741868|RGD:8554872 IAGP RGD:8595407 H WD repeat domain 36 gene taxon:9606 20260602 ClinVar RGD 1313630 WDR36 HP:0001402 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150436952 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0001402 PMID:28492532|RGD:8554872 IAGP RGD:150431222 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0001402 PMID:28492532|RGD:8554872 IAGP RGD:150450502 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0001402 PMID:28492532|RGD:8554872 IAGP RGD:150490066 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0001402 RGD:8554872 IAGP RGD:11583332 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0001402 RGD:8554872 IAGP RGD:714074106 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0002665 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150436952 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0002665 PMID:28492532|RGD:8554872 IAGP RGD:150431222 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0002665 PMID:28492532|RGD:8554872 IAGP RGD:150450502 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0002665 PMID:28492532|RGD:8554872 IAGP RGD:150490066 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0002665 RGD:8554872 IAGP RGD:713862304 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0002861 PMID:28492532|RGD:8554872 IAGP RGD:11585440 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0003212 RGD:640476621|PMID:32082391 IAGP H WD repeat domain 36 gene taxon:9606 20260313 RGD RGD 1313630 WDR36 HP:0004808 PMID:28492532|RGD:8554872 IAGP RGD:11585440 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0004808 PMID:28492532|RGD:8554872 IAGP RGD:150450502 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0004808 PMID:28492532|RGD:8554872 IAGP RGD:15157346 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0004808 RGD:8554872 IAGP RGD:11585736 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0004808 RGD:8554872 IAGP RGD:150428834 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0006770 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150436952 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0006770 PMID:28492532|RGD:8554872 IAGP RGD:150431222 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0006770 PMID:28492532|RGD:8554872 IAGP RGD:150450502 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0006770 PMID:28492532|RGD:8554872 IAGP RGD:150490066 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0006770 RGD:8554872 IAGP RGD:713862343 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0007716 PMID:28492532|RGD:8554872 IAGP RGD:150450502 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0007716 RGD:8554872 IAGP RGD:714010911 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0008188 PMID:25741868|RGD:8554872 IAGP RGD:8595407 H WD repeat domain 36 gene taxon:9606 20260602 ClinVar RGD 1313630 WDR36 HP:0012108 MIM:609887|RGD:8699517 IAGP H WD repeat domain 36 gene taxon:9606 20230821 HPO RGD 1313630 WDR36 HP:0012108 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11545430 H WD repeat domain 36 gene taxon:9606 20250729 ClinVar RGD 1313630 WDR36 HP:0012108 PMID:28492532|RGD:8554872 IAGP RGD:11591342 H WD repeat domain 36 gene taxon:9606 20210706 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11582671 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11583129 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11583781 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11583796 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11584597 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11584929 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11585256 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11585429 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11586706 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11587008 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11587067 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11587267 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11587564 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11588270 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11588631 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11589245 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11589392 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11589512 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11589908 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11589945 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11589994 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11590135 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11590196 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11590219 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11590789 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11590817 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11590823 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11591542 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11591759 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11592023 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11592404 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11592642 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11592988 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11593486 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11593666 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11593914 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11594109 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11594209 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11594712 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11594966 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11595277 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11595349 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11595569 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11596132 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11596794 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11597270 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11597293 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11597413 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11598553 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11644804 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11645796 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11647540 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11647999 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11651364 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11652393 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11655528 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11655563 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11655993 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11657018 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11658214 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11659325 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11659595 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11659883 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11660087 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11660942 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11661467 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11661536 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11661869 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11661890 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11662541 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11662672 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11663227 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11663734 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11664039 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11664067 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11664535 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11664620 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012108 RGD:8554872 IAGP RGD:11665899 H WD repeat domain 36 gene taxon:9606 20210323 ClinVar RGD 1313630 WDR36 HP:0012126 PMID:28492532|RGD:8554872 IAGP RGD:11585440 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0012126 PMID:28492532|RGD:8554872 IAGP RGD:150450502 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0012126 RGD:8554872 IAGP RGD:150499910 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0012126 RGD:8554872 IAGP RGD:713779901 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0012126 RGD:8554872 IAGP RGD:713779929 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0030153 PMID:28492532|RGD:8554872 IAGP RGD:150431222 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0030153 PMID:28492532|RGD:8554872 IAGP RGD:150450502 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0030153 PMID:28492532|RGD:8554872 IAGP RGD:150490066 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0030153 RGD:8554872 IAGP RGD:150499910 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0031219 PMID:25741868|RGD:8554872 IAGP RGD:8595407 H WD repeat domain 36 gene taxon:9606 20260602 ClinVar RGD 1313630 WDR36 HP:0031508 PMID:25741868|RGD:8554872 IAGP RGD:8595407 H WD repeat domain 36 gene taxon:9606 20260602 ClinVar RGD 1313630 WDR36 HP:0100242 PMID:28492532|RGD:8554872 IAGP RGD:11585440 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0100242 RGD:8554872 IAGP RGD:150428834 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0100242 RGD:8554872 IAGP RGD:713862467 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0100242 RGD:8554872 IAGP RGD:713947213 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0100522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150436952 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0100522 PMID:28492532|RGD:8554872 IAGP RGD:150450502 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0100526 RGD:8554872 IAGP RGD:713862267 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0100526 RGD:8554872 IAGP RGD:713862377 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0100526 RGD:8554872 IAGP RGD:713862428 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0100615 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150436952 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0100615 PMID:28492532|RGD:8554872 IAGP RGD:150431222 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0100615 PMID:28492532|RGD:8554872 IAGP RGD:150450502 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313630 WDR36 HP:0100615 PMID:28492532|RGD:8554872 IAGP RGD:150490066 H WD repeat domain 36 gene taxon:9606 20260519 ClinVar RGD 1313632 CDK14 HP:0001402 RGD:8554872 IAGP RGD:713765007 H cyclin dependent kinase 14 gene taxon:9606 20260519 ClinVar RGD 1313632 CDK14 HP:0001402 RGD:8554872 IAGP RGD:714084266 H cyclin dependent kinase 14 gene taxon:9606 20260519 ClinVar RGD 1313632 CDK14 HP:0002861 RGD:8554872 IAGP RGD:713654427 H cyclin dependent kinase 14 gene taxon:9606 20260519 ClinVar RGD 1313632 CDK14 HP:0004808 RGD:8554872 IAGP RGD:713600025 H cyclin dependent kinase 14 gene taxon:9606 20260519 ClinVar RGD 1313632 CDK14 HP:0006725 RGD:8554872 IAGP RGD:713654352 H cyclin dependent kinase 14 gene taxon:9606 20260519 ClinVar RGD 1313632 CDK14 HP:0011797 RGD:8554872 IAGP RGD:713600011 H cyclin dependent kinase 14 gene taxon:9606 20260519 ClinVar RGD 1313632 CDK14 HP:0011797 RGD:8554872 IAGP RGD:713988574 H cyclin dependent kinase 14 gene taxon:9606 20260519 ClinVar RGD 1313632 CDK14 HP:0011797 RGD:8554872 IAGP RGD:713988583 H cyclin dependent kinase 14 gene taxon:9606 20260519 ClinVar RGD 1313632 CDK14 HP:0030153 RGD:8554872 IAGP RGD:713654360 H cyclin dependent kinase 14 gene taxon:9606 20260519 ClinVar RGD 1313632 CDK14 HP:0030153 RGD:8554872 IAGP RGD:713654453 H cyclin dependent kinase 14 gene taxon:9606 20260519 ClinVar RGD 1313632 CDK14 HP:0030359 RGD:8554872 IAGP RGD:713654417 H cyclin dependent kinase 14 gene taxon:9606 20260519 ClinVar RGD 1313632 CDK14 HP:0100526 RGD:8554872 IAGP RGD:713654435 H cyclin dependent kinase 14 gene taxon:9606 20260519 ClinVar RGD 1313634 METAP1 HP:0001249 PMID:32764695|RGD:8554872 IAGP RGD:151758194 H methionyl aminopeptidase 1 gene taxon:9606 20220420 ClinVar RGD 1313634 METAP1 HP:0001402 RGD:8554872 IAGP RGD:713753497 H methionyl aminopeptidase 1 gene taxon:9606 20260519 ClinVar RGD 1313634 METAP1 HP:0002665 RGD:8554872 IAGP RGD:713463150 H methionyl aminopeptidase 1 gene taxon:9606 20260519 ClinVar RGD 1313634 METAP1 HP:0004808 RGD:8554872 IAGP RGD:713455174 H methionyl aminopeptidase 1 gene taxon:9606 20260519 ClinVar RGD 1313634 METAP1 HP:0004808 RGD:8554872 IAGP RGD:713455190 H methionyl aminopeptidase 1 gene taxon:9606 20260519 ClinVar RGD 1313634 METAP1 HP:0006770 RGD:8554872 IAGP RGD:714202644 H methionyl aminopeptidase 1 gene taxon:9606 20260519 ClinVar RGD 1313634 METAP1 HP:0012126 RGD:8554872 IAGP RGD:713779086 H methionyl aminopeptidase 1 gene taxon:9606 20260519 ClinVar RGD 1313634 METAP1 HP:0100242 RGD:8554872 IAGP RGD:714202663 H methionyl aminopeptidase 1 gene taxon:9606 20260519 ClinVar RGD 1313634 METAP1 HP:0100526 RGD:8554872 IAGP RGD:714202670 H methionyl aminopeptidase 1 gene taxon:9606 20260519 ClinVar RGD 1313634 METAP1 HP:0100615 RGD:8554872 IAGP RGD:713463150 H methionyl aminopeptidase 1 gene taxon:9606 20260519 ClinVar RGD 1313636 ANAPC2 HP:0001402 RGD:8554872 IAGP RGD:714088264 H anaphase promoting complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313636 ANAPC2 HP:0002032 RGD:8554872 IAGP RGD:15174080 H anaphase promoting complex subunit 2 gene taxon:9606 20210323 ClinVar RGD 1313636 ANAPC2 HP:0006770 RGD:8554872 IAGP RGD:713571828 H anaphase promoting complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313636 ANAPC2 HP:0100526 RGD:8554872 IAGP RGD:713571774 H anaphase promoting complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1313639 STAC2 HP:0001402 RGD:8554872 IAGP RGD:713358042 H SH3 and cysteine rich domain 2 gene taxon:9606 20260519 ClinVar RGD 1313639 STAC2 HP:0011003 RGD:8554872 IAGP RGD:14696177 H SH3 and cysteine rich domain 2 gene taxon:9606 20210323 ClinVar RGD 1313639 STAC2 HP:0100242 RGD:8554872 IAGP RGD:714177860 H SH3 and cysteine rich domain 2 gene taxon:9606 20260519 ClinVar RGD 1313641 MS4A7 HP:0001402 RGD:8554872 IAGP RGD:714157725 H membrane spanning 4-domains A7 gene taxon:9606 20260519 ClinVar RGD 1313641 MS4A7 HP:0003003 RGD:8554872 IAGP RGD:713744752 H membrane spanning 4-domains A7 gene taxon:9606 20260519 ClinVar RGD 1313641 MS4A7 HP:0006770 RGD:8554872 IAGP RGD:713386139 H membrane spanning 4-domains A7 gene taxon:9606 20260519 ClinVar RGD 1313641 MS4A7 HP:0030359 RGD:8554872 IAGP RGD:713386158 H membrane spanning 4-domains A7 gene taxon:9606 20260519 ClinVar RGD 1313641 MS4A7 HP:0100242 RGD:8554872 IAGP RGD:713386079 H membrane spanning 4-domains A7 gene taxon:9606 20260519 ClinVar RGD 1313641 MS4A7 HP:0100526 RGD:8554872 IAGP RGD:713386216 H membrane spanning 4-domains A7 gene taxon:9606 20260519 ClinVar RGD 1313642 EPS15 HP:0002861 RGD:8554872 IAGP RGD:713874354 H epidermal growth factor receptor pathway substrate 15 gene taxon:9606 20260519 ClinVar RGD 1313642 EPS15 HP:0002861 RGD:8554872 IAGP RGD:713875357 H epidermal growth factor receptor pathway substrate 15 gene taxon:9606 20260519 ClinVar RGD 1313642 EPS15 HP:0004808 RGD:8554872 IAGP RGD:714268354 H epidermal growth factor receptor pathway substrate 15 gene taxon:9606 20260519 ClinVar RGD 1313642 EPS15 HP:0006770 RGD:8554872 IAGP RGD:713767828 H epidermal growth factor receptor pathway substrate 15 gene taxon:9606 20260519 ClinVar RGD 1313642 EPS15 HP:0006770 RGD:8554872 IAGP RGD:713874423 H epidermal growth factor receptor pathway substrate 15 gene taxon:9606 20260519 ClinVar RGD 1313642 EPS15 HP:0006770 RGD:8554872 IAGP RGD:713876431 H epidermal growth factor receptor pathway substrate 15 gene taxon:9606 20260519 ClinVar RGD 1313642 EPS15 HP:0006770 RGD:8554872 IAGP RGD:714112333 H epidermal growth factor receptor pathway substrate 15 gene taxon:9606 20260519 ClinVar RGD 1313642 EPS15 HP:0006770 RGD:8554872 IAGP RGD:714112340 H epidermal growth factor receptor pathway substrate 15 gene taxon:9606 20260519 ClinVar RGD 1313642 EPS15 HP:0011797 RGD:8554872 IAGP RGD:713827281 H epidermal growth factor receptor pathway substrate 15 gene taxon:9606 20260519 ClinVar RGD 1313642 EPS15 HP:0012126 RGD:8554872 IAGP RGD:713767726 H epidermal growth factor receptor pathway substrate 15 gene taxon:9606 20260519 ClinVar RGD 1313642 EPS15 HP:0030153 RGD:8554872 IAGP RGD:713767828 H epidermal growth factor receptor pathway substrate 15 gene taxon:9606 20260519 ClinVar RGD 1313642 EPS15 HP:0100242 RGD:8554872 IAGP RGD:714270281 H epidermal growth factor receptor pathway substrate 15 gene taxon:9606 20260519 ClinVar RGD 1313642 EPS15 HP:0100522 RGD:8554872 IAGP RGD:713767828 H epidermal growth factor receptor pathway substrate 15 gene taxon:9606 20260519 ClinVar RGD 1313642 EPS15 HP:0100615 RGD:8554872 IAGP RGD:713767828 H epidermal growth factor receptor pathway substrate 15 gene taxon:9606 20260519 ClinVar RGD 1313642 EPS15 HP:0100615 RGD:8554872 IAGP RGD:713874991 H epidermal growth factor receptor pathway substrate 15 gene taxon:9606 20260519 ClinVar RGD 1313644 RASSF2 HP:0002861 RGD:8554872 IAGP RGD:713969534 H Ras association domain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313644 RASSF2 HP:0002861 RGD:8554872 IAGP RGD:713969627 H Ras association domain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313644 RASSF2 HP:0004808 RGD:8554872 IAGP RGD:713964599 H Ras association domain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313644 RASSF2 HP:0004808 RGD:8554872 IAGP RGD:713966296 H Ras association domain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313644 RASSF2 HP:0100242 RGD:8554872 IAGP RGD:713966296 H Ras association domain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313644 RASSF2 HP:0100522 RGD:8554872 IAGP RGD:713966296 H Ras association domain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313644 RASSF2 HP:0100526 RGD:8554872 IAGP RGD:713970079 H Ras association domain family member 2 gene taxon:9606 20260519 ClinVar RGD 1313646 MED8 HP:0001402 RGD:8554872 IAGP RGD:713739635 H mediator complex subunit 8 gene taxon:9606 20260519 ClinVar RGD 1313646 MED8 HP:0001402 RGD:8554872 IAGP RGD:713739655 H mediator complex subunit 8 gene taxon:9606 20260519 ClinVar RGD 1313646 MED8 HP:0001402 RGD:8554872 IAGP RGD:713739681 H mediator complex subunit 8 gene taxon:9606 20260519 ClinVar RGD 1313646 MED8 HP:0007716 RGD:8554872 IAGP RGD:714190075 H mediator complex subunit 8 gene taxon:9606 20260519 ClinVar RGD 1313646 MED8 HP:0012126 RGD:8554872 IAGP RGD:714270597 H mediator complex subunit 8 gene taxon:9606 20260519 ClinVar RGD 1313649 PTAR1 HP:0002861 RGD:8554872 IAGP RGD:713765103 H protein prenyltransferase alpha subunit repeat containing 1 gene taxon:9606 20260519 ClinVar RGD 1313649 PTAR1 HP:0004808 RGD:8554872 IAGP RGD:714260008 H protein prenyltransferase alpha subunit repeat containing 1 gene taxon:9606 20260519 ClinVar RGD 1313649 PTAR1 HP:0011797 RGD:8554872 IAGP RGD:714258040 H protein prenyltransferase alpha subunit repeat containing 1 gene taxon:9606 20260519 ClinVar RGD 1313649 PTAR1 HP:0030153 RGD:8554872 IAGP RGD:713727625 H protein prenyltransferase alpha subunit repeat containing 1 gene taxon:9606 20260707 ClinVar RGD 1313649 PTAR1 HP:0030153 RGD:8554872 IAGP RGD:713765092 H protein prenyltransferase alpha subunit repeat containing 1 gene taxon:9606 20260519 ClinVar RGD 1313649 PTAR1 HP:0030153 RGD:8554872 IAGP RGD:714259997 H protein prenyltransferase alpha subunit repeat containing 1 gene taxon:9606 20260519 ClinVar RGD 1313649 PTAR1 HP:0100242 RGD:8554872 IAGP RGD:713765120 H protein prenyltransferase alpha subunit repeat containing 1 gene taxon:9606 20260519 ClinVar RGD 1313649 PTAR1 HP:0100526 RGD:8554872 IAGP RGD:713815321 H protein prenyltransferase alpha subunit repeat containing 1 gene taxon:9606 20260519 ClinVar RGD 1313651 NELFA HP:0000028 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000047 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000077 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000078 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000079 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000151 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20240815 HPO RGD 1313651 NELFA HP:0000153 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000159 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000175 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000204 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000252 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000268 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000286 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000288 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000316 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000322 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000347 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000348 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000358 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20240815 HPO RGD 1313651 NELFA HP:0000365 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000389 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000431 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000485 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000486 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000488 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000494 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000501 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20240815 HPO RGD 1313651 NELFA HP:0000508 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000520 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000612 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000639 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000647 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000648 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000668 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000679 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20240815 HPO RGD 1313651 NELFA HP:0000684 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20240815 HPO RGD 1313651 NELFA HP:0000765 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000776 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000902 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000925 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000939 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0000958 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20240815 HPO RGD 1313651 NELFA HP:0000960 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001028 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001166 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001171 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001177 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001250 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001251 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001252 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001263 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001274 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001362 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001508 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001511 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001519 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001558 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001631 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001654 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001671 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001760 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0001762 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0002007 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0002144 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0002162 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0002205 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0002360 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20240815 HPO RGD 1313651 NELFA HP:0002553 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0002650 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0002714 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0002715 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0002720 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20240815 HPO RGD 1313651 NELFA HP:0002750 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0002808 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0003312 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0003363 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0003468 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0004467 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20240815 HPO RGD 1313651 NELFA HP:0005264 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0006655 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0006703 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0006709 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0006770 RGD:8554872 IAGP RGD:714240456 H negative elongation factor complex member A gene taxon:9606 20260519 ClinVar RGD 1313651 NELFA HP:0007360 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0007385 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0007716 RGD:8554872 IAGP RGD:714011461 H negative elongation factor complex member A gene taxon:9606 20260519 ClinVar RGD 1313651 NELFA HP:0008551 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0008830 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0009778 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0009890 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0010109 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0010464 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20240815 HPO RGD 1313651 NELFA HP:0010864 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0011968 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20240815 HPO RGD 1313651 NELFA HP:0012126 RGD:8554872 IAGP RGD:714011461 H negative elongation factor complex member A gene taxon:9606 20260519 ClinVar RGD 1313651 NELFA HP:0030680 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0100022 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313651 NELFA HP:0100790 ORPHA:280|RGD:8699517 IAGP H negative elongation factor complex member A gene taxon:9606 20230821 HPO RGD 1313653 TMEM59L HP:0012126 RGD:8554872 IAGP RGD:714271503 H transmembrane protein 59 like gene taxon:9606 20260519 ClinVar RGD 1313653 TMEM59L HP:0100242 RGD:8554872 IAGP RGD:713899013 H transmembrane protein 59 like gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0001402 RGD:8554872 IAGP RGD:714081865 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0002861 RGD:8554872 IAGP RGD:713479710 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0002894 RGD:8554872 IAGP RGD:12836390 H TTK protein kinase gene taxon:9606 20250107 ClinVar RGD 1313655 TTK HP:0003003 RGD:8554872 IAGP RGD:713479747 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0003003 RGD:8554872 IAGP RGD:713568598 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0004808 RGD:8554872 IAGP RGD:713715644 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0004808 RGD:8554872 IAGP RGD:713723499 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0004808 RGD:8554872 IAGP RGD:713727675 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0012126 RGD:8554872 IAGP RGD:713568576 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0012126 RGD:8554872 IAGP RGD:713568625 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0012126 RGD:8554872 IAGP RGD:713568679 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0030153 RGD:8554872 IAGP RGD:713479606 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0030359 RGD:8554872 IAGP RGD:713479726 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0100242 RGD:8554872 IAGP RGD:713479628 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0100242 RGD:8554872 IAGP RGD:713568598 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0100242 RGD:8554872 IAGP RGD:713568659 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0100522 RGD:8554872 IAGP RGD:713479647 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0100522 RGD:8554872 IAGP RGD:713568598 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0100522 RGD:8554872 IAGP RGD:713568659 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0100526 RGD:8554872 IAGP RGD:713479592 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313655 TTK HP:0100526 RGD:8554872 IAGP RGD:713479769 H TTK protein kinase gene taxon:9606 20260519 ClinVar RGD 1313657 ADGRG5 HP:0002861 RGD:8554872 IAGP RGD:713715265 H adhesion G protein-coupled receptor G5 gene taxon:9606 20260519 ClinVar RGD 1313657 ADGRG5 HP:0004808 RGD:8554872 IAGP RGD:713628903 H adhesion G protein-coupled receptor G5 gene taxon:9606 20260519 ClinVar RGD 1313657 ADGRG5 HP:0012126 RGD:8554872 IAGP RGD:714127696 H adhesion G protein-coupled receptor G5 gene taxon:9606 20260519 ClinVar RGD 1313657 ADGRG5 HP:0012126 RGD:8554872 IAGP RGD:714127709 H adhesion G protein-coupled receptor G5 gene taxon:9606 20260519 ClinVar RGD 1313657 ADGRG5 HP:0012126 RGD:8554872 IAGP RGD:714127720 H adhesion G protein-coupled receptor G5 gene taxon:9606 20260519 ClinVar RGD 1313657 ADGRG5 HP:0100522 RGD:8554872 IAGP RGD:713715330 H adhesion G protein-coupled receptor G5 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0000006 MIM:619228|MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000010 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000076 PMID:25741868|RGD:8554872 IAGP RGD:243063873 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0000164 PMID:25741868|PMID:33513338|RGD:8554872 IAGP RGD:329954952 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0000248 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000252 MIM:619228|MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000303 PMID:25741868|RGD:8554872 IAGP RGD:243063873 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0000319 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000319 PMID:25741868|RGD:8554872 IAGP RGD:243063873 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0000348 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000349 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000358 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000426 RGD:8554872 IAGP RGD:714063974 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0000494 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000494 RGD:8554872 IAGP RGD:714063974 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0000504 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000540 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000572 PMID:25741868|PMID:34782754|RGD:8554872 IAGP RGD:126914918 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0000574 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000670 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000684 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000687 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000699 RGD:8554872 IAGP RGD:714063974 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0000705 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:408368254 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:408368438 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0000708 MIM:619228|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000708 PMID:25741868|RGD:8554872 IAGP RGD:401828943 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0000708 PMID:28492532|RGD:8554872 IAGP RGD:151849370 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0000713 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000717 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000717 RGD:8554872 IAGP RGD:151663357 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:156435088 H SATB homeobox 1 gene taxon:9606 20230307 ClinVar RGD 1313660 SATB1 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:243063873 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0000733 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000736 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000750 MIM:619228|MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0000958 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001197 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001249 MIM:619228|MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001249 PMID:25741868|PMID:34782754|RGD:8554872 IAGP RGD:126914918 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:243063873 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:596921688 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001249 RGD:8554872 IAGP RGD:151663357 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001250 MIM:619228|MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:243051375 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001250 RGD:8554872 IAGP RGD:151663357 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001251 MIM:619228|MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001252 MIM:619228|MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:243051375 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001252 PMID:33513338|RGD:8554872 IAGP RGD:155794840 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001252 RGD:8554872 IAGP RGD:714063974 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:713429872 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001257 MIM:619228|MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001257 PMID:25741868|RGD:8554872 IAGP RGD:596921688 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001260 MIM:619228|MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001263 MIM:619228|MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:243051375 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:243063873 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:401828943 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:407429839 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001263 PMID:33513338|RGD:8554872 IAGP RGD:155794840 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001263 RGD:8554872 IAGP RGD:714063974 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001270 MIM:619228|MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001288 PMID:33513338|RGD:8554872 IAGP RGD:155794840 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001298 PMID:25741868|RGD:8554872 IAGP RGD:243051375 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001336 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001337 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001337 PMID:28492532|RGD:8554872 IAGP RGD:151849370 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001344 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001382 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001402 RGD:8554872 IAGP RGD:714265086 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001511 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001513 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001562 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001622 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001629 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001773 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001787 PMID:25741868|RGD:8554872 IAGP RGD:243063873 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0001852 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0001999 PMID:25741868|PMID:33513338|RGD:8554872 IAGP RGD:329954952 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0002015 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0002019 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0002020 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0002061 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0002069 PMID:25741868|RGD:8554872 IAGP RGD:401828943 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0002119 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0002121 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0002121 PMID:25741868|RGD:8554872 IAGP RGD:401828943 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0002133 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0002197 PMID:25741868|RGD:8554872 IAGP RGD:713429872 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0002283 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0002300 PMID:28492532|RGD:8554872 IAGP RGD:151849370 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0002307 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0002353 MIM:619228|MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0002360 MIM:619228|MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20260209 HPO RGD 1313660 SATB1 HP:0002376 MIM:619228|MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0002442 PMID:25741868|RGD:8554872 IAGP RGD:401828943 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0002521 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0002540 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0002650 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0002783 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0002861 RGD:8554872 IAGP RGD:713843044 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0004325 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0004691 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0004789 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0004808 RGD:8554872 IAGP RGD:713957721 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0004808 RGD:8554872 IAGP RGD:713957736 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0005484 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0006286 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0006297 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0006482 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0006770 RGD:8554872 IAGP RGD:713843544 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0006834 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0006956 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0006986 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0007018 RGD:8554872 IAGP RGD:151663357 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0007359 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0007359 PMID:25741868|RGD:8554872 IAGP RGD:596921688 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0008936 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0010511 PMID:25741868|RGD:8554872 IAGP RGD:243063873 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0010818 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0010841 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0010864 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20260209 HPO RGD 1313660 SATB1 HP:0011166 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0011169 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0011197 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0011342 PMID:25741868|RGD:8554872 IAGP RGD:713429872 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0011343 PMID:25741868|RGD:8554872 IAGP RGD:596921688 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0011410 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0011410 PMID:25741868|RGD:8554872 IAGP RGD:243063873 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0011412 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0011421 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0011800 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0012126 RGD:8554872 IAGP RGD:713600220 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0012126 RGD:8554872 IAGP RGD:713600674 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0012171 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0012471 PMID:25741868|RGD:8554872 IAGP RGD:243063873 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:153348526 H SATB homeobox 1 gene taxon:9606 20220906 ClinVar RGD 1313660 SATB1 HP:0012758 RGD:8554872 IAGP RGD:714110733 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0025336 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0025502 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0025502 PMID:33513338|RGD:8554872 IAGP RGD:155794840 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0030359 RGD:8554872 IAGP RGD:713840409 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0030359 RGD:8554872 IAGP RGD:713843565 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0030363 PMID:25741868|RGD:8554872 IAGP RGD:243063873 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0031355 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0031936 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0031951 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313660 SATB1 HP:0100025 RGD:8554872 IAGP RGD:714063974 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0100522 RGD:8554872 IAGP RGD:713843524 H SATB homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313660 SATB1 HP:0200055 MIM:619229|PMID:33513338|RGD:8699517 IAGP H SATB homeobox 1 gene taxon:9606 20250912 HPO RGD 1313662 XPOT HP:0001402 RGD:8554872 IAGP RGD:714158245 H exportin for tRNA gene taxon:9606 20260519 ClinVar RGD 1313662 XPOT HP:0002861 RGD:8554872 IAGP RGD:714067223 H exportin for tRNA gene taxon:9606 20260519 ClinVar RGD 1313662 XPOT HP:0002861 RGD:8554872 IAGP RGD:714067247 H exportin for tRNA gene taxon:9606 20260519 ClinVar RGD 1313662 XPOT HP:0002861 RGD:8554872 IAGP RGD:714067263 H exportin for tRNA gene taxon:9606 20260519 ClinVar RGD 1313662 XPOT HP:0003003 RGD:8554872 IAGP RGD:713819856 H exportin for tRNA gene taxon:9606 20260519 ClinVar RGD 1313662 XPOT HP:0006770 RGD:8554872 IAGP RGD:714067195 H exportin for tRNA gene taxon:9606 20260519 ClinVar RGD 1313662 XPOT HP:0012126 RGD:8554872 IAGP RGD:713796134 H exportin for tRNA gene taxon:9606 20260519 ClinVar RGD 1313662 XPOT HP:0100242 RGD:8554872 IAGP RGD:714067181 H exportin for tRNA gene taxon:9606 20260519 ClinVar RGD 1313662 XPOT HP:0100526 RGD:8554872 IAGP RGD:714067189 H exportin for tRNA gene taxon:9606 20260519 ClinVar RGD 1313664 CPA2 HP:0012126 RGD:8554872 IAGP RGD:713574476 H carboxypeptidase A2 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0000006 MIM:612943|PMID:19520207|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20260209 HPO RGD 1313665 KLHL7 HP:0000007 MIM:617055|PMID:27392078|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20260209 HPO RGD 1313665 KLHL7 HP:0000160 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0000218 MIM:617055|PMID:27392078|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0000218 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0000252 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0000293 MIM:617055|PMID:27392078|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0000340 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0000343 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0000347 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0000405 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0000407 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0000470 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0000501 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0000501 RGD:8554872 IAGP RGD:40887228 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0000504 PMID:25741868|RGD:8554872 IAGP RGD:150453341 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0000505 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0000505 PMID:25741868|RGD:8554872 IAGP RGD:150453341 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0000510 MIM:612943|MIM:617055|PMID:27392078|PMID:31856884|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20260209 HPO RGD 1313665 KLHL7 HP:0000510 PMID:19520207|PMID:20547956|PMID:21828050|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31456290|PMID:31856884|PMID:33576794|PMID:35052694|PMID:36460718|PMID:36819107|RGD:8554872 IAGP RGD:8555920 H kelch like family member 7 gene taxon:9606 20260707 ClinVar RGD 1313665 KLHL7 HP:0000510 PMID:19520207|PMID:28492532|RGD:8554872 IAGP RGD:28869888 H kelch like family member 7 gene taxon:9606 20210706 ClinVar RGD 1313665 KLHL7 HP:0000510 PMID:25741868|PMID:27160483|PMID:28041643|PMID:28492532|PMID:32581362|PMID:34906470|PMID:37510321|RGD:8554872 IAGP RGD:13435218 H kelch like family member 7 gene taxon:9606 20250311 ClinVar RGD 1313665 KLHL7 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11602060 H kelch like family member 7 gene taxon:9606 20220420 ClinVar RGD 1313665 KLHL7 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11605718 H kelch like family member 7 gene taxon:9606 20210706 ClinVar RGD 1313665 KLHL7 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11610624 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28869876 H kelch like family member 7 gene taxon:9606 20250311 ClinVar RGD 1313665 KLHL7 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28869879 H kelch like family member 7 gene taxon:9606 20230214 ClinVar RGD 1313665 KLHL7 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28874509 H kelch like family member 7 gene taxon:9606 20210608 ClinVar RGD 1313665 KLHL7 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28874512 H kelch like family member 7 gene taxon:9606 20260707 ClinVar RGD 1313665 KLHL7 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28874515 H kelch like family member 7 gene taxon:9606 20230214 ClinVar RGD 1313665 KLHL7 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28874519 H kelch like family member 7 gene taxon:9606 20220510 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11583907 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11587914 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11593432 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11594454 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11597600 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11597855 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11599024 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11599506 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11602957 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11603672 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11605440 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11605577 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11605902 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11608363 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11608524 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11608654 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11609554 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11610039 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11611372 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11612310 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11645493 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11651140 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11653687 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11658885 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:11659771 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:14693803 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:28867427 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:28867429 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:28867430 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:28867433 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:28869883 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:28905892 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000510 RGD:8554872 IAGP RGD:28905895 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000512 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0000527 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0000543 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20260209 HPO RGD 1313665 KLHL7 HP:0000546 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0000546 PMID:25741868|RGD:8554872 IAGP RGD:150453341 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0000548 PMID:19520207|PMID:20547956|PMID:21828050|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31456290|PMID:31856884|PMID:33576794|PMID:35052694|PMID:36460718|PMID:36819107|RGD:8554872 IAGP RGD:8555920 H kelch like family member 7 gene taxon:9606 20260707 ClinVar RGD 1313665 KLHL7 HP:0000551 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20241212 HPO RGD 1313665 KLHL7 HP:0000556 PMID:19520207|PMID:20547956|PMID:21828050|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31456290|PMID:31856884|PMID:33576794|PMID:35052694|PMID:36460718|PMID:36819107|RGD:8554872 IAGP RGD:8555920 H kelch like family member 7 gene taxon:9606 20260707 ClinVar RGD 1313665 KLHL7 HP:0000556 PMID:19520207|PMID:25741868|RGD:8554872 IAGP RGD:8555921 H kelch like family member 7 gene taxon:9606 20260602 ClinVar RGD 1313665 KLHL7 HP:0000556 PMID:25741868|PMID:28041643|PMID:28492532|PMID:31856884|PMID:32531858|PMID:32581362|RGD:8554872 IAGP RGD:13435019 H kelch like family member 7 gene taxon:9606 20250107 ClinVar RGD 1313665 KLHL7 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939502 H kelch like family member 7 gene taxon:9606 20250107 ClinVar RGD 1313665 KLHL7 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939534 H kelch like family member 7 gene taxon:9606 20250107 ClinVar RGD 1313665 KLHL7 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939791 H kelch like family member 7 gene taxon:9606 20250107 ClinVar RGD 1313665 KLHL7 HP:0000556 PMID:28492532|PMID:31856884|PMID:32037395|RGD:8554872 IAGP RGD:26910807 H kelch like family member 7 gene taxon:9606 20240312 ClinVar RGD 1313665 KLHL7 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:15177128 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26909614 H kelch like family member 7 gene taxon:9606 20230214 ClinVar RGD 1313665 KLHL7 HP:0000556 RGD:8554872 IAGP RGD:26909284 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000556 RGD:8554872 IAGP RGD:26909546 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0000556 RGD:8554872 IAGP RGD:405264675 H kelch like family member 7 gene taxon:9606 20240409 ClinVar RGD 1313665 KLHL7 HP:0000556 RGD:8554872 IAGP RGD:405264676 H kelch like family member 7 gene taxon:9606 20240409 ClinVar RGD 1313665 KLHL7 HP:0000556 RGD:8554872 IAGP RGD:405264679 H kelch like family member 7 gene taxon:9606 20240409 ClinVar RGD 1313665 KLHL7 HP:0000563 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0000602 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0000613 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0000618 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0000639 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0000648 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0000662 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20260209 HPO RGD 1313665 KLHL7 HP:0000842 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0000961 MIM:617055|PMID:27392078|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0001105 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20241212 HPO RGD 1313665 KLHL7 HP:0001249 MIM:617055|PMID:27392078|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0001249 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0001263 PMID:21828050|RGD:8554872 IAGP RGD:40886907 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0001402 RGD:8554872 IAGP RGD:21067001 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0001508 PMID:17576681|PMID:25741868|PMID:28492532|PMID:35670385|PMID:9536098|RGD:8554872 IAGP RGD:13504639 H kelch like family member 7 gene taxon:9606 20260616 ClinVar RGD 1313665 KLHL7 HP:0001511 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0001945 MIM:617055|PMID:27392078|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0002015 MIM:617055|PMID:27392078|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0002098 MIM:617055|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0002650 MIM:617055|PMID:27392078|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0002804 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0002861 RGD:8554872 IAGP RGD:21067001 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0003049 PMID:18414213|PMID:25741868|RGD:8554872 IAGP RGD:13506284 H kelch like family member 7 gene taxon:9606 20260602 ClinVar RGD 1313665 KLHL7 HP:0003049 PMID:25741868|RGD:8554872 IAGP RGD:13506283 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0003049 PMID:25741868|RGD:8554872 IAGP RGD:13506288 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0003196 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0003510 PMID:25741868|PMID:35670385|RGD:8554872 IAGP RGD:153346072 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0003593 MIM:617055|PMID:27392078|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0003596 MIM:612943|PMID:31856884|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0004808 RGD:8554872 IAGP RGD:21067001 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0004808 RGD:8554872 IAGP RGD:713979425 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0005280 MIM:617055|PMID:27392078|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0005684 PMID:18414213|PMID:25741868|RGD:8554872 IAGP RGD:13506284 H kelch like family member 7 gene taxon:9606 20260602 ClinVar RGD 1313665 KLHL7 HP:0005684 RGD:8554872 IAGP RGD:14702769 H kelch like family member 7 gene taxon:9606 20210323 ClinVar RGD 1313665 KLHL7 HP:0005957 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0006770 RGD:8554872 IAGP RGD:21067001 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0006770 RGD:8554872 IAGP RGD:713504331 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0007663 MIM:612943|ORPHA:791|PMID:31856884|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20260209 HPO RGD 1313665 KLHL7 HP:0007675 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0007703 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0007737 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20260209 HPO RGD 1313665 KLHL7 HP:0007787 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0007843 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20260209 HPO RGD 1313665 KLHL7 HP:0007994 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0008046 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0009487 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0009623 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0009908 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0011462 MIM:612943|PMID:31856884|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20260209 HPO RGD 1313665 KLHL7 HP:0011505 MIM:612943|ORPHA:791|PMID:31856884|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0011797 RGD:8554872 IAGP RGD:713733847 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0011800 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236|RGD:8554872 IAGP RGD:11641780 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0011968 MIM:617055|PMID:27392078|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0012385 MIM:617055|PMID:27392078|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0012385 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0012385 PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:31953236|RGD:8554872 IAGP RGD:25317046 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0012426 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20241212 HPO RGD 1313665 KLHL7 HP:0012758 PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236|RGD:8554872 IAGP RGD:21068660 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:15174199 H kelch like family member 7 gene taxon:9606 20220906 ClinVar RGD 1313665 KLHL7 HP:0025278 MIM:617055|PMID:27392078|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0030466 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20241212 HPO RGD 1313665 KLHL7 HP:0030488 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20241212 HPO RGD 1313665 KLHL7 HP:0030610 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20241212 HPO RGD 1313665 KLHL7 HP:0030629 MIM:612943|PMID:31856884|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0030786 ORPHA:791|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20240905 HPO RGD 1313665 KLHL7 HP:0034392 MIM:617055|PMID:27392078|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313665 KLHL7 HP:0100242 RGD:8554872 IAGP RGD:21067001 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0100522 RGD:8554872 IAGP RGD:21067001 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0100522 RGD:8554872 IAGP RGD:713504200 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0100522 RGD:8554872 IAGP RGD:713504225 H kelch like family member 7 gene taxon:9606 20260519 ClinVar RGD 1313665 KLHL7 HP:0500087 MIM:612943|PMID:31856884|RGD:8699517 IAGP H kelch like family member 7 gene taxon:9606 20250912 HPO RGD 1313667 SUPV3L1 HP:0001402 RGD:8554872 IAGP RGD:714090588 H Suv3 like RNA helicase gene taxon:9606 20260519 ClinVar RGD 1313667 SUPV3L1 HP:0004808 RGD:8554872 IAGP RGD:713780024 H Suv3 like RNA helicase gene taxon:9606 20260519 ClinVar RGD 1313667 SUPV3L1 HP:0004808 RGD:8554872 IAGP RGD:713780037 H Suv3 like RNA helicase gene taxon:9606 20260519 ClinVar RGD 1313667 SUPV3L1 HP:0004808 RGD:8554872 IAGP RGD:713782801 H Suv3 like RNA helicase gene taxon:9606 20260519 ClinVar RGD 1313667 SUPV3L1 HP:0100242 RGD:8554872 IAGP RGD:713362234 H Suv3 like RNA helicase gene taxon:9606 20260519 ClinVar RGD 1313667 SUPV3L1 HP:0100242 RGD:8554872 IAGP RGD:713362267 H Suv3 like RNA helicase gene taxon:9606 20260519 ClinVar RGD 1313667 SUPV3L1 HP:0100242 RGD:8554872 IAGP RGD:713362333 H Suv3 like RNA helicase gene taxon:9606 20260519 ClinVar RGD 1313667 SUPV3L1 HP:0100242 RGD:8554872 IAGP RGD:713780024 H Suv3 like RNA helicase gene taxon:9606 20260519 ClinVar RGD 1313667 SUPV3L1 HP:0100522 RGD:8554872 IAGP RGD:713362149 H Suv3 like RNA helicase gene taxon:9606 20260519 ClinVar RGD 1313667 SUPV3L1 HP:0100526 RGD:8554872 IAGP RGD:713362219 H Suv3 like RNA helicase gene taxon:9606 20260519 ClinVar RGD 1313667 SUPV3L1 HP:0100526 RGD:8554872 IAGP RGD:713362296 H Suv3 like RNA helicase gene taxon:9606 20260519 ClinVar RGD 1313667 SUPV3L1 HP:0100526 RGD:8554872 IAGP RGD:713362435 H Suv3 like RNA helicase gene taxon:9606 20260519 ClinVar RGD 1313669 UPP1 HP:0001657 RGD:8554872 IAGP RGD:10395426 H uridine phosphorylase 1 gene taxon:9606 20260602 ClinVar RGD 1313669 UPP1 HP:0006770 RGD:8554872 IAGP RGD:713641273 H uridine phosphorylase 1 gene taxon:9606 20260519 ClinVar RGD 1313669 UPP1 HP:0012126 RGD:8554872 IAGP RGD:713980404 H uridine phosphorylase 1 gene taxon:9606 20260519 ClinVar RGD 1313669 UPP1 HP:0100242 RGD:8554872 IAGP RGD:713663368 H uridine phosphorylase 1 gene taxon:9606 20260707 ClinVar RGD 1313669 UPP1 HP:0100526 RGD:8554872 IAGP RGD:713641280 H uridine phosphorylase 1 gene taxon:9606 20260519 ClinVar RGD 1313669 UPP1 HP:0100615 RGD:8554872 IAGP RGD:713983733 H uridine phosphorylase 1 gene taxon:9606 20260519 ClinVar RGD 1313671 LRFN3 HP:0001402 RGD:8554872 IAGP RGD:713364029 H leucine rich repeat and fibronectin type III domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1313671 LRFN3 HP:0006770 RGD:8554872 IAGP RGD:713360410 H leucine rich repeat and fibronectin type III domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1313671 LRFN3 HP:0006770 RGD:8554872 IAGP RGD:713360439 H leucine rich repeat and fibronectin type III domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1313671 LRFN3 HP:0030153 RGD:8554872 IAGP RGD:714269334 H leucine rich repeat and fibronectin type III domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000003 MIM:120330|ORPHA:1475|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250416 HPO RGD 1313673 PAX2 HP:0000003 PMID:25741868|RGD:8554872 IAGP RGD:28889143 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000003 RGD:8554872 IAGP RGD:713967086 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000006 MIM:120330|MIM:616002|PMID:24676634|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20260209 HPO RGD 1313673 PAX2 HP:0000028 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000076 MIM:120330|ORPHA:1475|ORPHA:97362|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0000076 PMID:25741868|RGD:8554872 IAGP RGD:597834563 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000077 PMID:10466411|PMID:10533062|PMID:11093271|PMID:11461952|PMID:20301624|PMID:21108633|PMID:24676634|PMID:25741868|PMID:27657687|PMID:28492532|PMID:28566479|PMID:32203253|PMID:34696790|PMID:35444690|PMID:36549658|RGD:8554872 IAGP RGD:8599574 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0000077 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0000077 PMID:25741868|RGD:8554872 IAGP RGD:405855381 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000077 PMID:25741868|RGD:8554872 IAGP RGD:408393833 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000080 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0000083 ORPHA:1475|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000083 RGD:8554872 IAGP RGD:405746172 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000083 RGD:8554872 IAGP RGD:405852332 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000083 RGD:8554872 IAGP RGD:405853757 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000083 RGD:8554872 IAGP RGD:408377138 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000083 RGD:8554872 IAGP RGD:713501175 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000083 RGD:8554872 IAGP RGD:713967051 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000085 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000089 MIM:120330|MIM:616002|ORPHA:1475|ORPHA:97362|PMID:24676634|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0000089 PMID:10466411|PMID:10533062|PMID:11093271|PMID:11461952|PMID:20301624|PMID:21108633|PMID:24676634|PMID:25741868|PMID:27657687|PMID:28492532|PMID:28566479|PMID:32203253|PMID:34696790|PMID:35444690|PMID:36549658|RGD:8554872 IAGP RGD:8599574 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0000089 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0000089 PMID:22213154|PMID:25741868|RGD:8554872 IAGP RGD:597834556 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000089 PMID:25741868|PMID:28492532|PMID:30937553|PMID:32164334|RGD:8554872 IAGP RGD:597841652 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000089 PMID:25741868|PMID:32203253|RGD:8554872 IAGP RGD:597834553 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000089 PMID:25741868|PMID:34217267|RGD:8554872 IAGP RGD:597834572 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000089 PMID:25741868|PMID:35005812|RGD:8554872 IAGP RGD:151347882 H paired box 2 gene taxon:9606 20220208 ClinVar RGD 1313673 PAX2 HP:0000089 PMID:25741868|RGD:8554872 IAGP RGD:151348512 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000089 PMID:25741868|RGD:8554872 IAGP RGD:155268067 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000089 PMID:25741868|RGD:8554872 IAGP RGD:597834560 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000089 PMID:25741868|RGD:8554872 IAGP RGD:597834563 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000089 RGD:8554872 IAGP RGD:405746172 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000089 RGD:8554872 IAGP RGD:405852296 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000089 RGD:8554872 IAGP RGD:405853757 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000089 RGD:8554872 IAGP RGD:405867409 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000090 PMID:25741868|RGD:8554872 IAGP RGD:155268067 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000093 MIM:120330|MIM:616002|ORPHA:656|ORPHA:97362|PMID:24676634|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0000093 PMID:22213154|PMID:25741868|RGD:8554872 IAGP RGD:597834556 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000093 PMID:25741868|PMID:32203253|RGD:8554872 IAGP RGD:597834553 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000093 PMID:25741868|PMID:32604935|RGD:8554872 IAGP RGD:597834566 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000093 PMID:25741868|PMID:32604935|RGD:8554872 IAGP RGD:597834569 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000093 PMID:25741868|PMID:34217267|RGD:8554872 IAGP RGD:597834572 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000093 PMID:25741868|RGD:8554872 IAGP RGD:151348512 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000093 PMID:25741868|RGD:8554872 IAGP RGD:401721367 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000093 PMID:25741868|RGD:8554872 IAGP RGD:597834563 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000093 RGD:8554872 IAGP RGD:408377138 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000093 RGD:8554872 IAGP RGD:713967051 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000096 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0000096 RGD:8554872 IAGP RGD:408377138 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000097 MIM:616002|ORPHA:656|PMID:24676634|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0000097 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0000097 PMID:25741868|PMID:31001663|RGD:8554872 IAGP RGD:151732879 H paired box 2 gene taxon:9606 20250701 ClinVar RGD 1313673 PAX2 HP:0000097 PMID:25741868|PMID:32604935|RGD:8554872 IAGP RGD:597834566 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000097 PMID:25741868|PMID:32604935|RGD:8554872 IAGP RGD:597834569 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000097 PMID:31001663|RGD:8554872 IAGP RGD:151732874 H paired box 2 gene taxon:9606 20220420 ClinVar RGD 1313673 PAX2 HP:0000097 RGD:8554872 IAGP RGD:408377138 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000100 MIM:616002|PMID:24676634|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0000100 RGD:8554872 IAGP RGD:126745634 H paired box 2 gene taxon:9606 20210406 ClinVar RGD 1313673 PAX2 HP:0000103 RGD:8554872 IAGP RGD:405852296 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000103 RGD:8554872 IAGP RGD:714091479 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000107 MIM:120330|ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250416 HPO RGD 1313673 PAX2 HP:0000107 PMID:25741868|RGD:8554872 IAGP RGD:155268067 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000107 PMID:25741868|RGD:8554872 IAGP RGD:401856168 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000107 PMID:25741868|RGD:8554872 IAGP RGD:401920228 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000107 RGD:8554872 IAGP RGD:12741894 H paired box 2 gene taxon:9606 20210323 ClinVar RGD 1313673 PAX2 HP:0000107 RGD:8554872 IAGP RGD:405867409 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000107 RGD:8554872 IAGP RGD:408393619 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000107 RGD:8554872 IAGP RGD:616932961 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000110 ORPHA:1475|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000110 PMID:10466411|PMID:10533062|PMID:11093271|PMID:11461952|PMID:20301624|PMID:21108633|PMID:24676634|PMID:25741868|PMID:27657687|PMID:28492532|PMID:28566479|PMID:32203253|PMID:34696790|PMID:35444690|PMID:36549658|RGD:8554872 IAGP RGD:8599574 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0000110 PMID:25741868|PMID:32776440|RGD:8554872 IAGP RGD:14699261 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000110 RGD:8554872 IAGP RGD:405852296 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000110 RGD:8554872 IAGP RGD:713967086 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000122 PMID:25741868|RGD:8554872 IAGP RGD:28889143 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000148 PMID:25741868|RGD:8554872 IAGP RGD:243052870 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000160 PMID:25741868|RGD:8554872 IAGP RGD:401856168 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000194 RGD:8554872 IAGP RGD:405852327 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000219 PMID:25741868|RGD:8554872 IAGP RGD:401856168 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000274 RGD:8554872 IAGP RGD:405852327 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000297 RGD:8554872 IAGP RGD:405852327 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000316 PMID:25741868|RGD:8554872 IAGP RGD:401856168 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000343 PMID:25741868|RGD:8554872 IAGP RGD:401856168 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000347 PMID:25741868|RGD:8554872 IAGP RGD:401856168 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000360 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0000365 ORPHA:1475|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000365 RGD:8554872 IAGP RGD:713967051 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000377 PMID:25741868|RGD:8554872 IAGP RGD:243052870 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000407 MIM:120330|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0000480 MIM:120330|ORPHA:1475|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250416 HPO RGD 1313673 PAX2 HP:0000483 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000486 MIM:120330|ORPHA:1475|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0000505 ORPHA:1475|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000518 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000533 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000540 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000541 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000545 ORPHA:1475|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20260209 HPO RGD 1313673 PAX2 HP:0000545 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0000556 PMID:22213154|PMID:24676634|PMID:25741868|PMID:28492532|PMID:3077329|PMID:30773290|PMID:35574290|RGD:8554872 IAGP RGD:126743854 H paired box 2 gene taxon:9606 20250107 ClinVar RGD 1313673 PAX2 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151764165 H paired box 2 gene taxon:9606 20250107 ClinVar RGD 1313673 PAX2 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596945535 H paired box 2 gene taxon:9606 20250107 ClinVar RGD 1313673 PAX2 HP:0000556 RGD:8554872 IAGP RGD:26909508 H paired box 2 gene taxon:9606 20210323 ClinVar RGD 1313673 PAX2 HP:0000568 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000587 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0000588 MIM:120330|ORPHA:1475|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0000588 RGD:8554872 IAGP RGD:714044274 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000601 PMID:25741868|RGD:8554872 IAGP RGD:243052870 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000608 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000625 PMID:25741868|RGD:8554872 IAGP RGD:243052870 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000639 MIM:120330|ORPHA:1475|ORPHA:97362|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0000648 PMID:25741868|RGD:8554872 IAGP RGD:596944466 H paired box 2 gene taxon:9606 20250107 ClinVar RGD 1313673 PAX2 HP:0000707 ORPHA:656|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000737 ORPHA:656|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000750 RGD:8554872 IAGP RGD:405852327 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000787 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000790 MIM:120330|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0000790 RGD:8554872 IAGP RGD:713967051 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000790 RGD:8554872 IAGP RGD:713967104 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000803 PMID:10466411|PMID:10533062|PMID:11093271|PMID:11461952|PMID:20301624|PMID:21108633|PMID:24676634|PMID:25741868|PMID:27657687|PMID:28492532|PMID:28566479|PMID:32203253|PMID:34696790|PMID:35444690|PMID:36549658|RGD:8554872 IAGP RGD:8599574 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0000803 PMID:22213154|PMID:25741868|RGD:8554872 IAGP RGD:597834556 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000803 PMID:25741868|PMID:28492532|PMID:30937553|PMID:32164334|RGD:8554872 IAGP RGD:597841652 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000803 PMID:25741868|RGD:8554872 IAGP RGD:597834560 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000813 PMID:25741868|RGD:8554872 IAGP RGD:243052870 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0000822 MIM:120330|ORPHA:97362|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0000969 MIM:120330|ORPHA:656|ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250416 HPO RGD 1313673 PAX2 HP:0000974 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0000977 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0001093 ORPHA:1475|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0001144 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0001159 RGD:8554872 IAGP RGD:408393619 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001172 RGD:8554872 IAGP RGD:405853757 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001249 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0001249 PMID:28492532|RGD:8554872 IAGP RGD:40888379 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001249 RGD:8554872 IAGP RGD:405852327 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001250 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0001250 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150338474 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:40888379 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001252 RGD:8554872 IAGP RGD:405852327 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001252 RGD:8554872 IAGP RGD:405853757 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001254 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0001256 RGD:8554872 IAGP RGD:405852327 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001262 PMID:25741868|PMID:32604935|RGD:8554872 IAGP RGD:597834569 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001337 RGD:8554872 IAGP RGD:405852327 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001369 RGD:8554872 IAGP RGD:713501175 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001382 MIM:120330|ORPHA:1475|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250416 HPO RGD 1313673 PAX2 HP:0001508 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0001508 PMID:28492532|RGD:8554872 IAGP RGD:40888379 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001510 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0001510 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0001510 RGD:8554872 IAGP RGD:713967086 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001518 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0001562 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0001562 PMID:25741868|RGD:8554872 IAGP RGD:155268067 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001562 PMID:25741868|RGD:8554872 IAGP RGD:243051963 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001622 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0001637 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0001640 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0001744 PMID:10466411|PMID:10533062|PMID:11093271|PMID:11461952|PMID:20301624|PMID:21108633|PMID:24676634|PMID:25741868|PMID:27657687|PMID:28492532|PMID:28566479|PMID:32203253|PMID:34696790|PMID:35444690|PMID:36549658|RGD:8554872 IAGP RGD:8599574 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0001760 RGD:8554872 IAGP RGD:713967086 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001770 RGD:8554872 IAGP RGD:408393619 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001878 RGD:8554872 IAGP RGD:405854033 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001903 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0001919 RGD:8554872 IAGP RGD:597832625 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001937 RGD:8554872 IAGP RGD:405854033 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001942 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0001945 ORPHA:656|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0001959 RGD:8554872 IAGP RGD:405852296 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001959 RGD:8554872 IAGP RGD:714091479 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0001967 ORPHA:656|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0001997 RGD:8554872 IAGP RGD:713501175 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0002007 PMID:25741868|RGD:8554872 IAGP RGD:401856168 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0002009 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0002027 ORPHA:656|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0002098 PMID:25741868|RGD:8554872 IAGP RGD:155268067 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0002144 RGD:8554872 IAGP RGD:713967086 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0002149 PMID:25741868|PMID:32776440|RGD:8554872 IAGP RGD:14699261 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0002153 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0002157 PMID:25741868|RGD:8554872 IAGP RGD:151348512 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0002171 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0002263 PMID:25741868|RGD:8554872 IAGP RGD:401856168 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0002310 RGD:8554872 IAGP RGD:405852327 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0002315 ORPHA:656|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0002321 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0002435 RGD:8554872 IAGP RGD:713967086 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0002463 RGD:8554872 IAGP RGD:405852327 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0002586 ORPHA:656|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0002643 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0002650 MIM:120330|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0002808 RGD:8554872 IAGP RGD:713967086 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0002902 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0002907 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0002907 RGD:8554872 IAGP RGD:713967051 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0002937 RGD:8554872 IAGP RGD:713967086 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0003073 ORPHA:656|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0003076 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0003110 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0003124 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151758993 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0003127 PMID:25741868|RGD:8554872 IAGP RGD:401830968 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0003259 MIM:120330|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0003298 RGD:8554872 IAGP RGD:713967086 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0003577 MIM:120330|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0003581 MIM:616002|PMID:24676634|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0003712 RGD:8554872 IAGP RGD:713967086 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0003774 MIM:120330|MIM:616002|ORPHA:656|PMID:24676634|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0003774 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0003774 RGD:8554872 IAGP RGD:713501175 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0003829 MIM:616002|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0004322 MIM:120330|ORPHA:97362|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:243052870 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:401920228 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0004712 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0005180 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0005280 PMID:25741868|RGD:8554872 IAGP RGD:401856168 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0005562 RGD:8554872 IAGP RGD:408393619 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0005564 MIM:120330|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0005575 RGD:8554872 IAGP RGD:597832625 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0005580 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151758993 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0006097 PMID:25741868|RGD:8554872 IAGP RGD:243052870 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0007099 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0007663 MIM:120330|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20260209 HPO RGD 1313673 PAX2 HP:0009900 RGD:8554872 IAGP RGD:713967051 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0010475 RGD:8554872 IAGP RGD:713967086 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0010747 PMID:25741868|RGD:8554872 IAGP RGD:401856168 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0010957 PMID:27657687|RGD:8554872 IAGP RGD:12791313 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0011003 MIM:120330|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0011410 PMID:25741868|RGD:8554872 IAGP RGD:243051963 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0011443 RGD:8554872 IAGP RGD:405852327 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0011509 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0011947 ORPHA:656|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0011968 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0012019 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0012210 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0012210 PMID:25741868|RGD:8554872 IAGP RGD:401856168 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012211 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0012211 PMID:26571382|RGD:8554872 IAGP RGD:11542454 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012211 RGD:8554872 IAGP RGD:714044274 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012212 RGD:8554872 IAGP RGD:408377138 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012213 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0012213 RGD:8554872 IAGP RGD:408377138 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012368 PMID:25741868|RGD:8554872 IAGP RGD:401856168 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012372 RGD:8554872 IAGP RGD:714044274 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012579 ORPHA:656|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0012582 PMID:10466411|PMID:10533062|PMID:11093271|PMID:11461952|PMID:20301624|PMID:21108633|PMID:24676634|PMID:25741868|PMID:27657687|PMID:28492532|PMID:28566479|PMID:32203253|PMID:34696790|PMID:35444690|PMID:36549658|RGD:8554872 IAGP RGD:8599574 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0012582 RGD:8554872 IAGP RGD:405852296 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012584 RGD:8554872 IAGP RGD:405852296 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012588 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0012588 PMID:25741868|PMID:31001663|RGD:8554872 IAGP RGD:151732879 H paired box 2 gene taxon:9606 20250701 ClinVar RGD 1313673 PAX2 HP:0012595 MIM:120330|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0012622 MIM:120330|ORPHA:656|ORPHA:97362|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0012622 PMID:10466411|PMID:10533062|PMID:11093271|PMID:11461952|PMID:20301624|PMID:21108633|PMID:24676634|PMID:25741868|PMID:27657687|PMID:28492532|PMID:28566479|PMID:32203253|PMID:34696790|PMID:35444690|PMID:36549658|RGD:8554872 IAGP RGD:8599574 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0012622 PMID:11461952|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:32203253|PMID:33532864|PMID:34696790|PMID:35444690|PMID:8589702|RGD:8554872 IAGP RGD:9589513 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0012622 PMID:22213154|PMID:25741868|RGD:8554872 IAGP RGD:597834556 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 PMID:25741868|PMID:28492532|PMID:30937553|PMID:32164334|RGD:8554872 IAGP RGD:597841652 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 PMID:25741868|PMID:32203253|RGD:8554872 IAGP RGD:597834553 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 PMID:25741868|PMID:32604935|RGD:8554872 IAGP RGD:597834566 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 PMID:25741868|PMID:34217267|RGD:8554872 IAGP RGD:597834572 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 PMID:25741868|RGD:8554872 IAGP RGD:151348512 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 PMID:25741868|RGD:8554872 IAGP RGD:151348784 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 PMID:25741868|RGD:8554872 IAGP RGD:152999458 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 PMID:25741868|RGD:8554872 IAGP RGD:401920228 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 PMID:25741868|RGD:8554872 IAGP RGD:597834560 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 PMID:25741868|RGD:8554872 IAGP RGD:597834563 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 RGD:8554872 IAGP RGD:405746172 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 RGD:8554872 IAGP RGD:405852296 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 RGD:8554872 IAGP RGD:405852332 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 RGD:8554872 IAGP RGD:405853757 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 RGD:8554872 IAGP RGD:408377138 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 RGD:8554872 IAGP RGD:713501175 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012622 RGD:8554872 IAGP RGD:713967051 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012624 RGD:8554872 IAGP RGD:713967051 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012625 RGD:8554872 IAGP RGD:405852296 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012625 RGD:8554872 IAGP RGD:408377138 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0012758 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0012801 RGD:8554872 IAGP RGD:405852327 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0020129 RGD:8554872 IAGP RGD:408377138 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0020129 RGD:8554872 IAGP RGD:713967051 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0025195 PMID:10466411|PMID:10533062|PMID:11093271|PMID:11461952|PMID:20301624|PMID:21108633|PMID:24676634|PMID:25741868|PMID:27657687|PMID:28492532|PMID:28566479|PMID:32203253|PMID:34696790|PMID:35444690|PMID:36549658|RGD:8554872 IAGP RGD:8599574 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0025466 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0025514 MIM:120330|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0030190 RGD:8554872 IAGP RGD:405852327 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0030674 PMID:10466411|PMID:10533062|PMID:11093271|PMID:11461952|PMID:20301624|PMID:21108633|PMID:24676634|PMID:25741868|PMID:27657687|PMID:28492532|PMID:28566479|PMID:32203253|PMID:34696790|PMID:35444690|PMID:36549658|RGD:8554872 IAGP RGD:8599574 H paired box 2 gene taxon:9606 20260602 ClinVar RGD 1313673 PAX2 HP:0030854 MIM:120330|PMID:7795640|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20250912 HPO RGD 1313673 PAX2 HP:0031504 ORPHA:656|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0032263 RGD:8554872 IAGP RGD:713501175 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0032263 RGD:8554872 IAGP RGD:713967051 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0100027 PMID:25741868|RGD:8554872 IAGP RGD:401920228 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313673 PAX2 HP:0100520 ORPHA:97362|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0100539 ORPHA:656|RGD:8699517 IAGP H paired box 2 gene taxon:9606 20230821 HPO RGD 1313673 PAX2 HP:0100543 RGD:8554872 IAGP RGD:405852327 H paired box 2 gene taxon:9606 20260519 ClinVar RGD 1313675 ARL5B HP:0003003 RGD:8554872 IAGP RGD:713383577 H ARF like GTPase 5B gene taxon:9606 20260519 ClinVar RGD 1313675 ARL5B HP:0004808 RGD:8554872 IAGP RGD:713781844 H ARF like GTPase 5B gene taxon:9606 20260519 ClinVar RGD 1313675 ARL5B HP:0004808 RGD:8554872 IAGP RGD:713788521 H ARF like GTPase 5B gene taxon:9606 20260519 ClinVar RGD 1313675 ARL5B HP:0030153 RGD:8554872 IAGP RGD:713383743 H ARF like GTPase 5B gene taxon:9606 20260519 ClinVar RGD 1313675 ARL5B HP:0030359 RGD:8554872 IAGP RGD:713383647 H ARF like GTPase 5B gene taxon:9606 20260519 ClinVar RGD 1313675 ARL5B HP:0030359 RGD:8554872 IAGP RGD:713383670 H ARF like GTPase 5B gene taxon:9606 20260519 ClinVar RGD 1313675 ARL5B HP:0100242 RGD:8554872 IAGP RGD:713383481 H ARF like GTPase 5B gene taxon:9606 20260519 ClinVar RGD 1313675 ARL5B HP:0100242 RGD:8554872 IAGP RGD:713383536 H ARF like GTPase 5B gene taxon:9606 20260519 ClinVar RGD 1313677 ZMPSTE24 HP:0000007 MIM:275210|MIM:608612|PMID:12913070|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20260209 HPO RGD 1313677 ZMPSTE24 HP:0000047 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0000050 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000073 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0000134 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000160 MIM:275210|MIM:608612|ORPHA:1662|ORPHA:740|ORPHA:90154|PMID:12913070|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0000164 ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000176 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0000200 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000218 MIM:608612|ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0000233 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000239 MIM:275210|ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0000260 MIM:275210|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0000270 MIM:608612|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0000278 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000292 MIM:608612|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0000316 MIM:275210|ORPHA:1662|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0000320 MIM:608612|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000331 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000347 MIM:275210|MIM:608612|ORPHA:1662|ORPHA:740|ORPHA:90154|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0000365 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0000369 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0000405 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000418 MIM:275210|MIM:608612|ORPHA:740|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0000436 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000444 MIM:275210|ORPHA:740|ORPHA:90154|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0000453 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0000464 MIM:608612|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000465 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000494 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000494 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0000506 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000520 MIM:608612|ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20260209 HPO RGD 1313677 ZMPSTE24 HP:0000540 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0000561 MIM:275210|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000581 MIM:275210|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000581 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0000586 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000621 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0000653 MIM:275210|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0000668 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20260209 HPO RGD 1313677 ZMPSTE24 HP:0000678 MIM:608612|ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20260209 HPO RGD 1313677 ZMPSTE24 HP:0000684 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000685 MIM:608612|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000695 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0000765 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000822 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000823 ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20251023 HPO RGD 1313677 ZMPSTE24 HP:0000831 MIM:608612|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000835 MIM:275210|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000842 MIM:608612|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000855 ORPHA:740|ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0000883 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000894 MIM:275210|MIM:608612|ORPHA:740|PMID:12913070|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20260209 HPO RGD 1313677 ZMPSTE24 HP:0000905 MIM:608612|ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0000924 ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000938 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000951 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0000953 ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000961 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0000962 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0000963 MIM:275210|ORPHA:90154|PMID:19504603|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0001015 MIM:608612|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0001030 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0001034 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001070 MIM:608612|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0001196 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0001211 ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001297 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001371 MIM:275210|MIM:608612|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0001376 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001387 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001510 MIM:608612|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0001511 MIM:275210|ORPHA:1662|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20260209 HPO RGD 1313677 ZMPSTE24 HP:0001518 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0001525 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001544 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001558 MIM:275210|ORPHA:1662|PMID:15317753|PMID:19504603|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0001558 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0001561 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0001562 MIM:275210|PMID:19504603|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0001595 ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001596 MIM:608612|ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0001620 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001622 MIM:275210|ORPHA:1662|PMID:15317753|PMID:19504603|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0001622 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0001631 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0001633 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001643 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0001646 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001650 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001651 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001653 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001658 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001659 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001669 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001681 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001714 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001718 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001757 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001773 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0001788 MIM:275210|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001799 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0001810 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001824 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001838 MIM:275210|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001870 MIM:608612|ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0001952 MIM:608612|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0001998 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0002033 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0002089 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0002092 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002119 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0002170 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002209 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0002223 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002232 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002299 MIM:608612|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0002326 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002362 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002597 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002621 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002643 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0002645 MIM:608612|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002673 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20260209 HPO RGD 1313677 ZMPSTE24 HP:0002751 MIM:275210|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002758 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002781 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002797 ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002804 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002827 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20260209 HPO RGD 1313677 ZMPSTE24 HP:0002828 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002875 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0002943 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0003074 MIM:608612|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0003077 MIM:608612|ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0003121 MIM:275210|PMID:19504603|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0003196 MIM:608612|ORPHA:90154|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0003292 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0003508 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0003561 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0003577 MIM:275210|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0003593 MIM:608612|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0003635 MIM:608612|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0003761 ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0003774 MIM:608612|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0003811 MIM:275210|PMID:15317753|PMID:19504603|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0003826 MIM:275210|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0004322 ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0004331 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0004334 MIM:608612|ORPHA:1662|ORPHA:740|ORPHA:90154|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0004349 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0004380 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0004382 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0004388 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0004482 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20260209 HPO RGD 1313677 ZMPSTE24 HP:0004482 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0004492 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0004808 RGD:8554872 IAGP RGD:713712164 H zinc metallopeptidase STE24 gene taxon:9606 20260519 ClinVar RGD 1313677 ZMPSTE24 HP:0004970 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0005253 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0005267 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0005280 MIM:275210|PMID:19504603|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20260209 HPO RGD 1313677 ZMPSTE24 HP:0005328 MIM:608612|ORPHA:90154|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0005461 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0005474 MIM:275210|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0005595 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0005659 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0005995 MIM:608612|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0006248 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0006266 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0006267 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0006335 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0006391 MIM:275210|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0006467 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0006480 MIM:608612|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0006585 MIM:275210|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0006645 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0006710 ORPHA:1662|ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0007394 MIM:275210|ORPHA:740|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0007418 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0007485 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0007495 ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0007592 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0007957 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0008070 MIM:608612|ORPHA:1662|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0008071 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0008244 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0008391 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0008404 ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0008551 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0008573 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0008647 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0008800 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0009002 MIM:608612|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0009064 MIM:608612|ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0009803 MIM:608612|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20260209 HPO RGD 1313677 ZMPSTE24 HP:0009839 MIM:275210|MIM:608612|ORPHA:740|ORPHA:90154|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0009882 ORPHA:90154|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0009904 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0009924 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0010219 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0010296 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0010505 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0010648 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0010648 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0010766 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0010885 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0011079 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0011313 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0011354 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0011414 MIM:275210|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0011451 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0011457 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0011461 MIM:275210|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20260209 HPO RGD 1313677 ZMPSTE24 HP:0011832 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0012126 RGD:8554872 IAGP RGD:714268331 H zinc metallopeptidase STE24 gene taxon:9606 20260519 ClinVar RGD 1313677 ZMPSTE24 HP:0012474 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0012478 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0012569 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0012745 MIM:275210|ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250416 HPO RGD 1313677 ZMPSTE24 HP:0012804 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0025168 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0025169 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0025354 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0025712 MIM:275210|PMID:19504603|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0030002 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0030053 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0030838 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0030880 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0031013 MIM:275210|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0034197 MIM:275210|PMID:19504603|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0040019 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0040187 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0040189 MIM:275210|ORPHA:1662|PMID:19504603|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0045075 MIM:275210|ORPHA:1662|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0100490 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0100490 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0100522 RGD:8554872 IAGP RGD:713406088 H zinc metallopeptidase STE24 gene taxon:9606 20260519 ClinVar RGD 1313677 ZMPSTE24 HP:0100602 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0100613 MIM:608612|PMID:12913070|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0100678 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0100679 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0100694 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0100840 MIM:275210|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0200034 ORPHA:740|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313677 ZMPSTE24 HP:0200041 MIM:275210|ORPHA:1662|PMID:15317753|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20250912 HPO RGD 1313677 ZMPSTE24 HP:0200055 PMID:12913070|PMID:15317753|PMID:15843403|PMID:16297189|PMID:19020898|PMID:20034068|PMID:21108632|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:30919593|RGD:8554872 IAGP RGD:8557973 H zinc metallopeptidase STE24 gene taxon:9606 20260616 ClinVar RGD 1313677 ZMPSTE24 HP:0200102 ORPHA:1662|RGD:8699517 IAGP H zinc metallopeptidase STE24 gene taxon:9606 20230821 HPO RGD 1313679 CNNM4 HP:0000007 MIM:217080|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260209 HPO RGD 1313679 CNNM4 HP:0000504 PMID:25741868|RGD:8554872 IAGP RGD:151348379 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260519 ClinVar RGD 1313679 CNNM4 HP:0000505 MIM:217080|ORPHA:1873|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250912 HPO RGD 1313679 CNNM4 HP:0000510 PMID:25741868|PMID:28492532|PMID:34906470|RGD:8554872 IAGP RGD:150438767 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20230606 ClinVar RGD 1313679 CNNM4 HP:0000510 RGD:8554872 IAGP RGD:13786185 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260519 ClinVar RGD 1313679 CNNM4 HP:0000543 MIM:217080|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260209 HPO RGD 1313679 CNNM4 HP:0000546 PMID:25741868|RGD:8554872 IAGP RGD:401830998 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260519 ClinVar RGD 1313679 CNNM4 HP:0000548 MIM:217080|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20230821 HPO RGD 1313679 CNNM4 HP:0000548 RGD:8554872 IAGP RGD:13786185 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260519 ClinVar RGD 1313679 CNNM4 HP:0000551 ORPHA:1873|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20230821 HPO RGD 1313679 CNNM4 HP:0000556 PMID:19200525|PMID:23362848|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13213030 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250311 ClinVar RGD 1313679 CNNM4 HP:0000556 PMID:19200525|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29421294|RGD:8554872 IAGP RGD:8557042 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250107 ClinVar RGD 1313679 CNNM4 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11581147 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250107 ClinVar RGD 1313679 CNNM4 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596929613 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20241210 ClinVar RGD 1313679 CNNM4 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596942138 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250107 ClinVar RGD 1313679 CNNM4 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944030 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250107 ClinVar RGD 1313679 CNNM4 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944036 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250107 ClinVar RGD 1313679 CNNM4 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944246 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250107 ClinVar RGD 1313679 CNNM4 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596945581 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250107 ClinVar RGD 1313679 CNNM4 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:8557039 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260602 ClinVar RGD 1313679 CNNM4 HP:0000556 RGD:8554872 IAGP RGD:26909688 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20210323 ClinVar RGD 1313679 CNNM4 HP:0000575 MIM:217080|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260209 HPO RGD 1313679 CNNM4 HP:0000613 MIM:217080|ORPHA:1873|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250912 HPO RGD 1313679 CNNM4 HP:0000639 MIM:217080|ORPHA:1873|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250912 HPO RGD 1313679 CNNM4 HP:0000639 PMID:25741868|RGD:8554872 IAGP RGD:151348379 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260519 ClinVar RGD 1313679 CNNM4 HP:0000648 ORPHA:1873|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20230821 HPO RGD 1313679 CNNM4 HP:0000662 MIM:217080|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260209 HPO RGD 1313679 CNNM4 HP:0000670 MIM:217080|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250912 HPO RGD 1313679 CNNM4 HP:0000682 ORPHA:1873|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20230821 HPO RGD 1313679 CNNM4 HP:0000705 ORPHA:1873|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20230821 HPO RGD 1313679 CNNM4 HP:0000705 PMID:25741868|RGD:8554872 IAGP RGD:151348379 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260519 ClinVar RGD 1313679 CNNM4 HP:0000705 RGD:8554872 IAGP RGD:13786185 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260519 ClinVar RGD 1313679 CNNM4 HP:0001045 PMID:25741868|RGD:8554872 IAGP RGD:151348379 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260519 ClinVar RGD 1313679 CNNM4 HP:0001402 RGD:8554872 IAGP RGD:714264109 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260519 ClinVar RGD 1313679 CNNM4 HP:0003593 MIM:217080|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250912 HPO RGD 1313679 CNNM4 HP:0006286 MIM:217080|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250912 HPO RGD 1313679 CNNM4 HP:0006725 RGD:8554872 IAGP RGD:713685389 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260519 ClinVar RGD 1313679 CNNM4 HP:0007401 MIM:217080|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250912 HPO RGD 1313679 CNNM4 HP:0007703 ORPHA:1873|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20230821 HPO RGD 1313679 CNNM4 HP:0007737 MIM:217080|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260209 HPO RGD 1313679 CNNM4 HP:0007803 MIM:217080|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20230821 HPO RGD 1313679 CNNM4 HP:0007814 MIM:217080|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250912 HPO RGD 1313679 CNNM4 HP:0007843 MIM:217080|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260209 HPO RGD 1313679 CNNM4 HP:0008499 MIM:217080|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250912 HPO RGD 1313679 CNNM4 HP:0011073 ORPHA:1873|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20230821 HPO RGD 1313679 CNNM4 HP:0012043 MIM:217080|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250912 HPO RGD 1313679 CNNM4 HP:0012126 RGD:8554872 IAGP RGD:713524282 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260519 ClinVar RGD 1313679 CNNM4 HP:0033785 MIM:217080|PMID:19200527|RGD:8699517 IAGP H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20250912 HPO RGD 1313679 CNNM4 HP:0100242 PMID:28492532|RGD:8554872 IAGP RGD:11584914 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260519 ClinVar RGD 1313679 CNNM4 HP:0100242 RGD:8554872 IAGP RGD:713685444 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260519 ClinVar RGD 1313679 CNNM4 HP:0100522 RGD:8554872 IAGP RGD:597647667 H cyclin and CBS domain divalent metal cation transport mediator 4 gene taxon:9606 20260519 ClinVar RGD 1313682 RPL38 HP:0002861 RGD:8554872 IAGP RGD:713359818 H ribosomal protein L38 gene taxon:9606 20260519 ClinVar RGD 1313682 RPL38 HP:0006770 RGD:8554872 IAGP RGD:713359782 H ribosomal protein L38 gene taxon:9606 20260519 ClinVar RGD 1313682 RPL38 HP:0012126 RGD:8554872 IAGP RGD:714266358 H ribosomal protein L38 gene taxon:9606 20260519 ClinVar RGD 1313682 RPL38 HP:0100522 RGD:8554872 IAGP RGD:713359729 H ribosomal protein L38 gene taxon:9606 20260519 ClinVar RGD 1313682 RPL38 HP:0100526 RGD:8554872 IAGP RGD:713359910 H ribosomal protein L38 gene taxon:9606 20260519 ClinVar RGD 1313687 KIF9 HP:0001402 RGD:8554872 IAGP RGD:713771548 H kinesin family member 9 gene taxon:9606 20260519 ClinVar RGD 1313687 KIF9 HP:0001402 RGD:8554872 IAGP RGD:713771559 H kinesin family member 9 gene taxon:9606 20260519 ClinVar RGD 1313687 KIF9 HP:0012126 RGD:8554872 IAGP RGD:713936863 H kinesin family member 9 gene taxon:9606 20260519 ClinVar RGD 1313687 KIF9 HP:0100242 RGD:8554872 IAGP RGD:713816197 H kinesin family member 9 gene taxon:9606 20260519 ClinVar RGD 1313687 KIF9 HP:0100242 RGD:8554872 IAGP RGD:713816234 H kinesin family member 9 gene taxon:9606 20260519 ClinVar RGD 1313687 KIF9 HP:0100242 RGD:8554872 IAGP RGD:713816251 H kinesin family member 9 gene taxon:9606 20260519 ClinVar RGD 1313687 KIF9 HP:0100526 RGD:8554872 IAGP RGD:713740283 H kinesin family member 9 gene taxon:9606 20260519 ClinVar RGD 1313687 KIF9 HP:0100615 RGD:8554872 IAGP RGD:713816312 H kinesin family member 9 gene taxon:9606 20260519 ClinVar RGD 1313689 MCM2 HP:0000006 MIM:616968|PMID:26196677|RGD:8699517 IAGP H minichromosome maintenance complex component 2 gene taxon:9606 20250912 HPO RGD 1313689 MCM2 HP:0000408 MIM:616968|PMID:26196677|RGD:8699517 IAGP H minichromosome maintenance complex component 2 gene taxon:9606 20250912 HPO RGD 1313689 MCM2 HP:0001751 MIM:616968|PMID:26196677|RGD:8699517 IAGP H minichromosome maintenance complex component 2 gene taxon:9606 20250912 HPO RGD 1313689 MCM2 HP:0003581 MIM:616968|PMID:26196677|RGD:8699517 IAGP H minichromosome maintenance complex component 2 gene taxon:9606 20250912 HPO RGD 1313689 MCM2 HP:0003621 MIM:616968|PMID:26196677|RGD:8699517 IAGP H minichromosome maintenance complex component 2 gene taxon:9606 20250912 HPO RGD 1313689 MCM2 HP:0003677 MIM:616968|PMID:26196677|RGD:8699517 IAGP H minichromosome maintenance complex component 2 gene taxon:9606 20250912 HPO RGD 1313689 MCM2 HP:0100242 RGD:8554872 IAGP RGD:714196849 H minichromosome maintenance complex component 2 gene taxon:9606 20260519 ClinVar RGD 1313689 MCM2 HP:0100522 RGD:8554872 IAGP RGD:714196887 H minichromosome maintenance complex component 2 gene taxon:9606 20260519 ClinVar RGD 1313689 MCM2 HP:0100526 RGD:8554872 IAGP RGD:714196862 H minichromosome maintenance complex component 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0000007 MIM:116920|PMID:12488604|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20250912 HPO RGD 1313694 ITGB2 HP:0000118 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11627293 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0000118 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8647015 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0000118 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8647007 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0000163 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0000230 MIM:116920|PMID:35281597|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20250912 HPO RGD 1313694 ITGB2 HP:0000504 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0000540 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0000545 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0000704 MIM:116920|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20230821 HPO RGD 1313694 ITGB2 HP:0000836 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0000978 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0001058 MIM:116920|PMID:12488604|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20250912 HPO RGD 1313694 ITGB2 HP:0001058 RGD:8554872 IAGP RGD:126908291 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0001072 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0001399 PMID:1590804|PMID:25703682|PMID:25741868|PMID:26639818|PMID:28492532|PMID:30919141|RGD:8554872 IAGP RGD:8647017 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0001402 RGD:8554872 IAGP RGD:713735720 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0001508 PMID:22134107|PMID:25703682|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15015017 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0001510 RGD:8554872 IAGP RGD:126908291 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0001518 PMID:1590804|PMID:25703682|PMID:25741868|PMID:26639818|PMID:28492532|PMID:30919141|RGD:8554872 IAGP RGD:8647017 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0001537 PMID:22134107|PMID:25703682|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15015017 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0001581 PMID:11703376|PMID:12488604|PMID:1968911|PMID:25703682|PMID:25741868|PMID:28492532|PMID:7705401|RGD:8554872 IAGP RGD:8561056 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0001911 PMID:25741868|RGD:8554872 IAGP RGD:401855670 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0001974 MIM:116920|PMID:26497373|PMID:26639818|PMID:35281597|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20250912 HPO RGD 1313694 ITGB2 HP:0001974 PMID:11703376|PMID:12488604|PMID:1968911|PMID:25703682|PMID:25741868|PMID:28492532|PMID:7705401|RGD:8554872 IAGP RGD:8561056 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0001974 PMID:22134107|PMID:25703682|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15015017 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0002028 MIM:116920|PMID:35281597|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20250912 HPO RGD 1313694 ITGB2 HP:0002093 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0002099 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0002242 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0002577 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0002715 PMID:22134107|PMID:25703682|PMID:25741868|PMID:28492532|PMID:32279896|RGD:8554872 IAGP RGD:156099670 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0002715 PMID:25741868|RGD:8554872 IAGP RGD:408394659 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0002718 MIM:116920|PMID:1347532|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20250912 HPO RGD 1313694 ITGB2 HP:0002718 PMID:25741868|RGD:8554872 IAGP RGD:401855670 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0002719 MIM:116920|PMID:35281597|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20250912 HPO RGD 1313694 ITGB2 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0002719 RGD:8554872 IAGP RGD:126908291 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0002721 PMID:11703376|PMID:12488604|PMID:1968911|PMID:25703682|PMID:25741868|PMID:28492532|PMID:7705401|RGD:8554872 IAGP RGD:8561056 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0002721 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0002721 RGD:8554872 IAGP RGD:126908291 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0002728 MIM:116920|PMID:35281597|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20250912 HPO RGD 1313694 ITGB2 HP:0002754 MIM:116920|PMID:26497373|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20250912 HPO RGD 1313694 ITGB2 HP:0002861 RGD:8554872 IAGP RGD:713872661 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0002861 RGD:8554872 IAGP RGD:713872826 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0002960 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0003003 RGD:8554872 IAGP RGD:713872676 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0003124 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0003623 MIM:116920|PMID:35281597|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20250912 HPO RGD 1313694 ITGB2 HP:0004808 PMID:20549317|PMID:22134107|PMID:28492532|RGD:8554872 IAGP RGD:8647008 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0005224 MIM:116920|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20230821 HPO RGD 1313694 ITGB2 HP:0005420 MIM:116920|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20230821 HPO RGD 1313694 ITGB2 HP:0005420 PMID:22134107|PMID:25703682|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15015017 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0005528 PMID:10886250|PMID:11703376|PMID:12488604|PMID:17875809|PMID:25514840|PMID:25703682|PMID:25741868|PMID:28492532|PMID:30412664|PMID:7686755|PMID:7705401|RGD:8554872 IAGP RGD:8561067 H integrin subunit beta 2 gene taxon:9606 20260602 ClinVar RGD 1313694 ITGB2 HP:0005528 PMID:1346132|PMID:22134107|PMID:25703682|PMID:28492532|RGD:8554872 IAGP RGD:40887155 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0006725 RGD:8554872 IAGP RGD:713872765 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0006770 RGD:8554872 IAGP RGD:713872748 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0007499 MIM:116920|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20230821 HPO RGD 1313694 ITGB2 HP:0009098 PMID:22134107|PMID:25703682|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15015017 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0010783 PMID:22134107|PMID:25703682|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15015017 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0011227 MIM:116920|PMID:35281597|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20250912 HPO RGD 1313694 ITGB2 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0011899 MIM:116920|PMID:35281597|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20250912 HPO RGD 1313694 ITGB2 HP:0012126 RGD:8554872 IAGP RGD:713785209 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0012126 RGD:8554872 IAGP RGD:713785225 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0025825 PMID:25741868|RGD:8554872 IAGP RGD:151661864 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0032434 MIM:116920|PMID:12488604|PMID:35281597|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20250912 HPO RGD 1313694 ITGB2 HP:0032435 MIM:116920|PMID:3519653|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20250912 HPO RGD 1313694 ITGB2 HP:0032435 PMID:25741868|RGD:8554872 IAGP RGD:401855192 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0100526 PMID:1590804|PMID:25703682|PMID:25741868|PMID:26639818|PMID:28492532|PMID:30919141|RGD:8554872 IAGP RGD:8647017 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0100526 RGD:8554872 IAGP RGD:150462900 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0100526 RGD:8554872 IAGP RGD:713872711 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0100526 RGD:8554872 IAGP RGD:713872776 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0100526 RGD:8554872 IAGP RGD:713872842 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0100806 PMID:1590804|PMID:25703682|PMID:25741868|PMID:26639818|PMID:28492532|PMID:30919141|RGD:8554872 IAGP RGD:8647017 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0100806 PMID:22134107|PMID:25703682|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15015017 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 HP:0200042 MIM:116920|PMID:26639818|RGD:8699517 IAGP H integrin subunit beta 2 gene taxon:9606 20250912 HPO RGD 1313694 ITGB2 HP:0410009 PMID:28492532|RGD:8554872 IAGP RGD:26903095 H integrin subunit beta 2 gene taxon:9606 20260519 ClinVar RGD 1313694 ITGB2 susceptibility HP:0001974 RGD:6482224|PMID:20549317 IAGP H integrin subunit beta 2 gene taxon:9606 20210701 RGD RGD 1313694 ITGB2 susceptibility HP:0011897 RGD:6482224|PMID:20549317 IAGP H integrin subunit beta 2 gene taxon:9606 20210701 RGD RGD 1313694 ITGB2 susceptibility HP:0032435 RGD:6482224|PMID:20549317 IAGP H integrin subunit beta 2 gene taxon:9606 20210701 RGD RGD 1313696 MCM9 HP:0000007 MIM:616185|PMID:25480036|RGD:8699517 IAGP H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20251023 HPO RGD 1313696 MCM9 HP:0000786 MIM:616185|PMID:25480036|RGD:8699517 IAGP H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20250912 HPO RGD 1313696 MCM9 HP:0000815 PMID:25741868|PMID:31042289|RGD:8554872 IAGP RGD:9589700 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260602 ClinVar RGD 1313696 MCM9 HP:0000939 PMID:31042289|RGD:8554872 IAGP RGD:21404382 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313696 MCM9 HP:0001402 RGD:8554872 IAGP RGD:597649961 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313696 MCM9 HP:0002750 MIM:616185|PMID:25480036|RGD:8699517 IAGP H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20250912 HPO RGD 1313696 MCM9 HP:0002861 RGD:8554872 IAGP RGD:713514076 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313696 MCM9 HP:0003003 RGD:8554872 IAGP RGD:713513984 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313696 MCM9 HP:0003621 MIM:616185|PMID:25480036|RGD:8699517 IAGP H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20250912 HPO RGD 1313696 MCM9 HP:0004322 MIM:616185|PMID:25480036|RGD:8699517 IAGP H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20250912 HPO RGD 1313696 MCM9 HP:0004325 MIM:616185|PMID:25480036|RGD:8699517 IAGP H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20250912 HPO RGD 1313696 MCM9 HP:0004808 RGD:8554872 IAGP RGD:713435186 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313696 MCM9 HP:0004808 RGD:8554872 IAGP RGD:713442407 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313696 MCM9 HP:0004808 RGD:8554872 IAGP RGD:714165757 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313696 MCM9 HP:0006770 RGD:8554872 IAGP RGD:713513762 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313696 MCM9 HP:0006770 RGD:8554872 IAGP RGD:713513777 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313696 MCM9 HP:0006770 RGD:8554872 IAGP RGD:713513946 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313696 MCM9 HP:0008209 PMID:25741868|RGD:8554872 IAGP RGD:596942335 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313696 MCM9 HP:0008209 PMID:25741868|RGD:8554872 IAGP RGD:616938146 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313696 MCM9 HP:0008214 MIM:616185|PMID:25480036|RGD:8699517 IAGP H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20250912 HPO RGD 1313696 MCM9 HP:0008232 MIM:616185|PMID:25480036|RGD:8699517 IAGP H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20250912 HPO RGD 1313696 MCM9 HP:0030153 RGD:8554872 IAGP RGD:713514002 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313696 MCM9 HP:0100242 RGD:8554872 IAGP RGD:713514018 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313696 MCM9 HP:0100526 RGD:8554872 IAGP RGD:713513706 H minichromosome maintenance 9 homologous recombination repair factor gene taxon:9606 20260519 ClinVar RGD 1313698 RANBP3 HP:0002861 RGD:8554872 IAGP RGD:713681086 H RAN binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313698 RANBP3 HP:0002861 RGD:8554872 IAGP RGD:713681110 H RAN binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313698 RANBP3 HP:0006770 RGD:8554872 IAGP RGD:713681208 H RAN binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313698 RANBP3 HP:0012126 RGD:8554872 IAGP RGD:713770714 H RAN binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313698 RANBP3 HP:0012126 RGD:8554872 IAGP RGD:713770744 H RAN binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313698 RANBP3 HP:0030153 RGD:8554872 IAGP RGD:713681059 H RAN binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313698 RANBP3 HP:0030153 RGD:8554872 IAGP RGD:713681119 H RAN binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313698 RANBP3 HP:0100242 RGD:8554872 IAGP RGD:713681046 H RAN binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313698 RANBP3 HP:0100242 RGD:8554872 IAGP RGD:713681130 H RAN binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313698 RANBP3 HP:0100242 RGD:8554872 IAGP RGD:713681142 H RAN binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313698 RANBP3 HP:0100242 RGD:8554872 IAGP RGD:713681152 H RAN binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313698 RANBP3 HP:0100242 RGD:8554872 IAGP RGD:713681180 H RAN binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313698 RANBP3 HP:0100522 RGD:8554872 IAGP RGD:713681071 H RAN binding protein 3 gene taxon:9606 20260519 ClinVar RGD 1313699 DHRS3 HP:0000007 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000023 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000047 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000218 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000248 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000256 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000316 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000324 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000325 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000358 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000369 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000407 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000414 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000431 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000475 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000494 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000520 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000639 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000689 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0000750 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001056 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001141 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001182 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001245 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001249 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001250 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001270 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001274 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001320 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001363 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001363 PMID:25741868|RGD:8554872 IAGP RGD:401830540 H dehydrogenase/reductase 3 gene taxon:9606 20231010 ClinVar RGD 1313699 DHRS3 HP:0001402 RGD:8554872 IAGP RGD:713422519 H dehydrogenase/reductase 3 gene taxon:9606 20260519 ClinVar RGD 1313699 DHRS3 HP:0001508 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001631 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001655 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001684 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001891 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0001999 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0002119 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0002162 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0002335 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0002436 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0002616 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0002678 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0002705 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0002861 RGD:8554872 IAGP RGD:713730868 H dehydrogenase/reductase 3 gene taxon:9606 20260519 ClinVar RGD 1313699 DHRS3 HP:0002861 RGD:8554872 IAGP RGD:713730945 H dehydrogenase/reductase 3 gene taxon:9606 20260519 ClinVar RGD 1313699 DHRS3 HP:0002944 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0003765 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0004322 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0004406 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0005295 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0008368 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0008513 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0008551 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0008598 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0008689 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0010447 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0010487 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0010535 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0010636 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0011315 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0011316 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0011317 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0011318 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0011321 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0011326 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0011342 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0011343 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0011344 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0011410 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0011800 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0011968 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0012126 RGD:8554872 IAGP RGD:713499420 H dehydrogenase/reductase 3 gene taxon:9606 20260519 ClinVar RGD 1313699 DHRS3 HP:0012443 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0020049 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0031664 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0031936 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0040196 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0040262 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0040288 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0100333 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0100334 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313699 DHRS3 HP:0100522 RGD:8554872 IAGP RGD:713426946 H dehydrogenase/reductase 3 gene taxon:9606 20260519 ClinVar RGD 1313699 DHRS3 HP:0100522 RGD:8554872 IAGP RGD:713731363 H dehydrogenase/reductase 3 gene taxon:9606 20260519 ClinVar RGD 1313699 DHRS3 HP:0100807 MIM:621499|PMID:40519748|RGD:8699517 IAGP H dehydrogenase/reductase 3 gene taxon:9606 20260618 HPO RGD 1313701 COL6A2 HP:0000006 MIM:620725|PMID:8782832|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0000007 MIM:255600|MIM:620727|PMID:11381124|PMID:18852439|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0000047 PMID:25741868|RGD:8554872 IAGP RGD:714124324 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000080 PMID:28492532|RGD:8554872 IAGP RGD:38463957 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000098 PMID:28492532|RGD:8554872 IAGP RGD:126919228 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000174 ORPHA:75840|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0000218 MIM:620727|PMID:11381124|PMID:11506412|PMID:16075202|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0000218 PMID:25741868|RGD:8554872 IAGP RGD:401917975 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000276 PMID:25741868|RGD:8554872 IAGP RGD:401917975 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000297 PMID:24271325|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14741004 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000297 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000347 MIM:620727|ORPHA:75840|PMID:11381124|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0000467 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0000470 MIM:620727|ORPHA:75840|PMID:11381124|PMID:11506412|PMID:16075202|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0000473 MIM:620727|ORPHA:75840|PMID:11381124|PMID:11506412|PMID:16075202|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0000473 PMID:15689448|PMID:19344236|PMID:24038877|PMID:25741868|PMID:28492532|PMID:29419890|PMID:32403337|PMID:7695699|PMID:8218237|RGD:8554872 IAGP RGD:9691314 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000478 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000496 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0000565 ORPHA:75840|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0000639 PMID:25741868|RGD:8554872 IAGP RGD:151662079 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000707 PMID:16199547|PMID:19884007|PMID:20976770|PMID:25204870|PMID:25741868|PMID:28492532|PMID:29419890|RGD:8554872 IAGP RGD:408393829 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:401940371 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000717 PMID:25741868|PMID:28492532|PMID:30564623|RGD:8554872 IAGP RGD:11641473 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000739 PMID:28492532|RGD:8554872 IAGP RGD:126919228 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000750 PMID:25741868|PMID:28492532|PMID:30564623|PMID:37091313|RGD:8554872 IAGP RGD:11636167 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000750 PMID:37091313|RGD:8554872 IAGP RGD:401796171 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000750 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000775 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0000924 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000961 PMID:25741868|RGD:8554872 IAGP RGD:401917975 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0000962 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0001072 PMID:28492532|RGD:8554872 IAGP RGD:126919228 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001073 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0001181 MIM:620727|ORPHA:75840|PMID:11381124|PMID:11506412|PMID:16075202|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0001212 PMID:24271325|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14741004 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001220 MIM:620725|ORPHA:610|PMID:11865138|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0001238 ORPHA:75840|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0001239 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0001249 MIM:620727|PMID:11381124|PMID:11506412|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0001250 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0001250 PMID:25741868|PMID:28492532|PMID:30564623|RGD:8554872 IAGP RGD:11641473 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001250 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11643467 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:126919228 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001252 MIM:620727|PMID:11381124|PMID:11506412|PMID:16075202|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:150339431 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:151662079 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:714124324 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:736709544 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0001263 PMID:25741868|PMID:28492532|PMID:30564623|RGD:8554872 IAGP RGD:11641473 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:150339431 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:714124324 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001270 MIM:620727|PMID:11506412|PMID:16075202|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0001270 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001287 PMID:25741868|RGD:8554872 IAGP RGD:151662079 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001288 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0001288 PMID:11381124|PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30609409|PMID:32065942|PMID:34106991|PMID:37526466|PMID:38374194|RGD:8554872 IAGP RGD:11559934 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0001290 ORPHA:75840|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0001290 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:151348306 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:243053167 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001290 PMID:28492532|RGD:8554872 IAGP RGD:126919228 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001298 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0001324 MIM:620727|ORPHA:610|ORPHA:75840|PMID:20106987|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0001324 PMID:11381124|PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30609409|PMID:32065942|PMID:34106991|PMID:37526466|PMID:38374194|RGD:8554872 IAGP RGD:11559934 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0001324 PMID:15689448|PMID:25204870|RGD:8554872 IAGP RGD:13531818 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001324 PMID:25741868|RGD:8554872 IAGP RGD:151662079 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001324 PMID:25741868|RGD:8554872 IAGP RGD:713429992 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001324 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001344 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11643467 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001357 PMID:25741868|RGD:8554872 IAGP RGD:150339431 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001371 ORPHA:610|ORPHA:75840|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250416 HPO RGD 1313701 COL6A2 HP:0001374 PMID:11381124|PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30609409|PMID:32065942|PMID:34106991|PMID:37526466|PMID:38374194|RGD:8554872 IAGP RGD:11559934 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0001382 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0001382 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0001382 PMID:25741868|RGD:8554872 IAGP RGD:401917975 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001382 PMID:28492532|RGD:8554872 IAGP RGD:126919228 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001508 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0001513 PMID:28492532|RGD:8554872 IAGP RGD:126919228 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001558 MIM:620727|ORPHA:75840|PMID:11381124|PMID:11506412|PMID:16075202|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0001558 PMID:25741868|RGD:8554872 IAGP RGD:714124324 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001561 PMID:25741868|RGD:8554872 IAGP RGD:714124324 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001622 PMID:28492532|RGD:8554872 IAGP RGD:126919228 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001638 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001761 PMID:25741868|PMID:28492532|PMID:30564623|PMID:37091313|RGD:8554872 IAGP RGD:11580324 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001761 PMID:25741868|PMID:28492532|PMID:30564623|PMID:37091313|RGD:8554872 IAGP RGD:11636167 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001761 PMID:37091313|RGD:8554872 IAGP RGD:401796171 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001763 PMID:25741868|RGD:8554872 IAGP RGD:243053167 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0001771 MIM:255600|ORPHA:610|PMID:18852439|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0001787 PMID:28492532|RGD:8554872 IAGP RGD:126919228 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002015 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002061 PMID:28492532|RGD:8554872 IAGP RGD:26899188 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002086 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0002087 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0002091 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0002093 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0002099 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0002153 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401940290 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002167 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002194 PMID:25741868|RGD:8554872 IAGP RGD:243053167 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002353 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0002353 PMID:25741868|PMID:28492532|PMID:34167565|PMID:37526466|RGD:8554872 IAGP RGD:11643076 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002353 PMID:28492532|RGD:8554872 IAGP RGD:126919228 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002359 ORPHA:75840|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0002359 PMID:25741868|RGD:8554872 IAGP RGD:401917975 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002460 MIM:255600|MIM:620725|ORPHA:610|PMID:11865138|PMID:18852439|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0002460 PMID:25741868|RGD:8554872 IAGP RGD:713429992 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002465 PMID:25741868|RGD:8554872 IAGP RGD:151662079 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002483 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002515 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0002527 PMID:11381124|PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30609409|PMID:32065942|PMID:34106991|PMID:37526466|PMID:38374194|RGD:8554872 IAGP RGD:11559934 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0002540 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11643467 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002650 MIM:620727|ORPHA:610|ORPHA:75840|PMID:11381124|PMID:11506412|PMID:16075202|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0002719 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0002783 MIM:620727|PMID:11381124|PMID:11506412|PMID:16075202|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0002791 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0002793 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0002808 MIM:620727|ORPHA:75840|PMID:11381124|PMID:11506412|PMID:16075202|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0002827 MIM:620727|ORPHA:75840|PMID:11381124|PMID:11506412|PMID:16075202|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0002828 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0002861 PMID:15689448|PMID:23040494|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:8640869 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002861 PMID:16199547|PMID:19884007|PMID:20976770|PMID:28492532|RGD:8554872 IAGP RGD:713964068 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002861 RGD:8554872 IAGP RGD:713875747 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0002878 MIM:620727|ORPHA:75840|PMID:11381124|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0002938 MIM:255600|ORPHA:610|PMID:18852439|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0002944 MIM:255600|PMID:18852439|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0002987 ORPHA:610|ORPHA:75840|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250416 HPO RGD 1313701 COL6A2 HP:0003003 RGD:8554872 IAGP RGD:713830322 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003011 PMID:11381124|PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30609409|PMID:32065942|PMID:34106991|PMID:37526466|PMID:38374194|RGD:8554872 IAGP RGD:11559934 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0003011 PMID:25741868|RGD:8554872 IAGP RGD:13705810 H collagen type VI alpha 2 chain gene taxon:9606 20220208 ClinVar RGD 1313701 COL6A2 HP:0003011 PMID:25741868|RGD:8554872 IAGP RGD:151349016 H collagen type VI alpha 2 chain gene taxon:9606 20220208 ClinVar RGD 1313701 COL6A2 HP:0003011 PMID:28492532|RGD:8554872 IAGP RGD:38463957 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003198 PMID:25741868|RGD:8554872 IAGP RGD:10406671 H collagen type VI alpha 2 chain gene taxon:9606 20210323 ClinVar RGD 1313701 COL6A2 HP:0003198 RGD:8554872 IAGP RGD:151350572 H collagen type VI alpha 2 chain gene taxon:9606 20220208 ClinVar RGD 1313701 COL6A2 HP:0003202 MIM:255600|MIM:620727|PMID:11506412|PMID:18852439|PMID:20106987|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003202 PMID:25741868|RGD:8554872 IAGP RGD:151348306 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003202 PMID:25741868|RGD:8554872 IAGP RGD:243052801 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003202 PMID:25741868|RGD:8554872 IAGP RGD:243053167 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003202 PMID:28492532|RGD:8554872 IAGP RGD:26899188 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003202 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003236 MIM:255600|MIM:620725|MIM:620727|ORPHA:610|ORPHA:75840|PMID:11381124|PMID:11865138|PMID:18852439|PMID:20106987|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003236 PMID:15689448|PMID:19344236|PMID:24038877|PMID:25741868|PMID:28492532|PMID:29419890|PMID:32403337|PMID:7695699|PMID:8218237|RGD:8554872 IAGP RGD:9691314 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0003273 MIM:620727|PMID:20106987|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003306 MIM:255600|MIM:620725|MIM:620727|ORPHA:610|ORPHA:75840|PMID:11381124|PMID:11506412|PMID:16075202|PMID:17886299|PMID:18852439|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003306 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003307 PMID:37091313|RGD:8554872 IAGP RGD:401796171 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003324 MIM:620727|ORPHA:75840|PMID:11381124|PMID:11506412|PMID:16075202|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003325 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0003327 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0003391 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0003391 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0003391 PMID:25741868|PMID:28492532|PMID:34167565|PMID:37526466|RGD:8554872 IAGP RGD:11643076 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003393 PMID:28492532|RGD:8554872 IAGP RGD:26899188 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003457 PMID:25741868|RGD:8554872 IAGP RGD:151348306 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003458 ORPHA:610|ORPHA:75840|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250416 HPO RGD 1313701 COL6A2 HP:0003458 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003549 RGD:8554872 IAGP RGD:736707210 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0003555 MIM:620725|PMID:11865138|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003557 MIM:620727|ORPHA:75840|PMID:11381124|PMID:16075202|PMID:20106987|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003560 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0003560 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0003560 RGD:8554872 IAGP RGD:9691311 H collagen type VI alpha 2 chain gene taxon:9606 20240312 ClinVar RGD 1313701 COL6A2 HP:0003560 RGD:8554872 IAGP RGD:9691317 H collagen type VI alpha 2 chain gene taxon:9606 20240312 ClinVar RGD 1313701 COL6A2 HP:0003560 RGD:8554872 IAGP RGD:9691321 H collagen type VI alpha 2 chain gene taxon:9606 20240312 ClinVar RGD 1313701 COL6A2 HP:0003577 MIM:620727|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003581 MIM:620725|PMID:11865138|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003593 MIM:620725|MIM:620727|PMID:11865138|PMID:16075202|PMID:20106987|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003623 MIM:620727|PMID:11381124|PMID:11506412|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003676 MIM:255600|PMID:18852439|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003687 MIM:620725|MIM:620727|PMID:11865138|PMID:20106987|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003690 PMID:25741868|RGD:8554872 IAGP RGD:401917975 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003691 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0003700 ORPHA:610|ORPHA:75840|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250416 HPO RGD 1313701 COL6A2 HP:0003701 MIM:255600|MIM:620725|MIM:620727|PMID:11865138|PMID:17886299|PMID:18852439|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003701 PMID:19884007|PMID:20976770|PMID:28492532|RGD:8554872 IAGP RGD:243049375 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003701 PMID:25741868|PMID:28492532|PMID:34167565|PMID:37526466|RGD:8554872 IAGP RGD:11643076 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003701 RGD:8554872 IAGP RGD:11558881 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003713 MIM:620725|MIM:620727|PMID:11865138|PMID:20106987|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003722 MIM:620727|PMID:11381124|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0003731 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0003797 PMID:15689448|PMID:19344236|PMID:24038877|PMID:25741868|PMID:28492532|PMID:29419890|PMID:32403337|PMID:7695699|PMID:8218237|RGD:8554872 IAGP RGD:9691314 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003798 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0003805 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0004303 ORPHA:75840|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0004303 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0004322 MIM:255600|PMID:18852439|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0004325 PMID:25741868|RGD:8554872 IAGP RGD:150339431 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0004684 PMID:25741868|RGD:8554872 IAGP RGD:243053167 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0005072 ORPHA:75840|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0005997 MIM:255600|PMID:18852439|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0006094 MIM:620727|PMID:11381124|PMID:11506412|PMID:16075202|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0006149 ORPHA:75840|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0006380 ORPHA:75840|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0006466 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0006731 PMID:28492532|RGD:8554872 IAGP RGD:26899188 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0006770 RGD:8554872 IAGP RGD:713875546 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0006770 RGD:8554872 IAGP RGD:713875565 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0006770 RGD:8554872 IAGP RGD:713875587 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0006770 RGD:8554872 IAGP RGD:713875620 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0006770 RGD:8554872 IAGP RGD:713875715 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0006770 RGD:8554872 IAGP RGD:713875730 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0006770 RGD:8554872 IAGP RGD:713875771 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0006770 RGD:8554872 IAGP RGD:713875828 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0006770 RGD:8554872 IAGP RGD:713875955 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0006770 RGD:8554872 IAGP RGD:713875969 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0006770 RGD:8554872 IAGP RGD:713875990 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0006785 PMID:25741868|RGD:8554872 IAGP RGD:713429992 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0007010 PMID:25741868|RGD:8554872 IAGP RGD:151662079 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0007149 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0007281 PMID:25741868|RGD:8554872 IAGP RGD:150339431 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0008081 MIM:620727|ORPHA:75840|PMID:11381124|PMID:11506412|PMID:16075202|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0008936 PMID:24271325|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14741004 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0008954 PMID:28492532|RGD:8554872 IAGP RGD:26899188 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0008959 PMID:28492532|RGD:8554872 IAGP RGD:26899188 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0008959 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0008994 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0008997 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0009027 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0009053 PMID:28492532|RGD:8554872 IAGP RGD:26899188 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0009053 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0009058 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0009073 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0009113 ORPHA:75840|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0009127 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0009131 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0009830 PMID:28492532|RGD:8554872 IAGP RGD:26899188 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0010176 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0010511 ORPHA:75840|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0010628 MIM:255600|PMID:18852439|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0011025 RGD:8554872 IAGP RGD:714054095 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0011443 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:126919228 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0011463 MIM:255600|MIM:620725|PMID:11865138|PMID:18852439|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0011804 PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313|RGD:8554872 IAGP RGD:8640843 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0011804 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:126919228 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:38463957 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0011805 PMID:28492532|RGD:8554872 IAGP RGD:126919228 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0011809 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401940290 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0012084 MIM:620725|PMID:11865138|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0012126 RGD:8554872 IAGP RGD:14737248 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0012126 RGD:8554872 IAGP RGD:713785561 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0012497 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0012515 PMID:11381124|PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30609409|PMID:32065942|PMID:34106991|PMID:37526466|PMID:38374194|RGD:8554872 IAGP RGD:11559934 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0012647 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0012759 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11643467 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0012904 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401940290 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0020045 MIM:620727|PMID:11381124|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0030051 PMID:25741868|PMID:28492532|PMID:30564623|PMID:37091313|RGD:8554872 IAGP RGD:11580324 H collagen type VI alpha 2 chain gene taxon:9606 20240709 ClinVar RGD 1313701 COL6A2 HP:0030051 PMID:25741868|PMID:28492532|PMID:30564623|PMID:37091313|RGD:8554872 IAGP RGD:11636167 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0030051 PMID:25741868|PMID:28492532|PMID:34167565|PMID:37526466|RGD:8554872 IAGP RGD:11643076 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0030051 PMID:25741868|RGD:8554872 IAGP RGD:401917975 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0030051 PMID:37091313|RGD:8554872 IAGP RGD:401796171 H collagen type VI alpha 2 chain gene taxon:9606 20240709 ClinVar RGD 1313701 COL6A2 HP:0030084 PMID:25741868|PMID:28492532|PMID:30564623|PMID:37091313|RGD:8554872 IAGP RGD:11636167 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0030095 MIM:620727|ORPHA:610|PMID:16075202|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0030674 MIM:620727|PMID:11381124|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0031189 PMID:25741868|RGD:8554872 IAGP RGD:243053167 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0031936 MIM:620727|PMID:20106987|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0032152 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0032341 MIM:255600|PMID:18852439|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0033127 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126740713 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0033127 PMID:25741868|RGD:8554872 IAGP RGD:243052801 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0034391 MIM:620725|MIM:620727|PMID:11381124|PMID:11506412|PMID:16075202|PMID:17886299|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0034392 PMID:25741868|RGD:8554872 IAGP RGD:401917975 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0034665 MIM:620727|PMID:20106987|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0034671 MIM:620725|MIM:620727|PMID:11381124|PMID:11506412|PMID:11865138|PMID:16075202|PMID:17886299|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0034677 MIM:620725|MIM:620727|PMID:11865138|PMID:17886299|PMID:20106987|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0100022 PMID:28492532|RGD:8554872 IAGP RGD:126919228 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0100242 RGD:8554872 IAGP RGD:14719692 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0100242 RGD:8554872 IAGP RGD:713785550 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0100242 RGD:8554872 IAGP RGD:713875603 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0100242 RGD:8554872 IAGP RGD:713875938 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0100242 RGD:8554872 IAGP RGD:713876040 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0100242 RGD:8554872 IAGP RGD:713964060 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0100297 MIM:620725|MIM:620727|ORPHA:75840|PMID:11381124|PMID:11865138|PMID:20106987|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313701 COL6A2 HP:0100490 ORPHA:610|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20230821 HPO RGD 1313701 COL6A2 HP:0100522 RGD:8554872 IAGP RGD:713875412 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0100522 RGD:8554872 IAGP RGD:713875848 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0100526 PMID:15689448|PMID:23040494|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:8640869 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0100526 PMID:28492532|RGD:8554872 IAGP RGD:13515284 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0100526 RGD:8554872 IAGP RGD:14737248 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0100526 RGD:8554872 IAGP RGD:713964060 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0100543 PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623|RGD:8554872 IAGP RGD:8566055 H collagen type VI alpha 2 chain gene taxon:9606 20260707 ClinVar RGD 1313701 COL6A2 HP:0100634 PMID:28492532|RGD:8554872 IAGP RGD:26899188 H collagen type VI alpha 2 chain gene taxon:9606 20260519 ClinVar RGD 1313701 COL6A2 HP:0100807 MIM:620727|PMID:11381124|PMID:11506412|PMID:16075202|PMID:20106987|PMID:20729548|RGD:8699517 IAGP H collagen type VI alpha 2 chain gene taxon:9606 20250912 HPO RGD 1313704 FAM241B HP:0012126 RGD:8554872 IAGP RGD:713786695 H family with sequence similarity 241 member B gene taxon:9606 20260519 ClinVar RGD 1313704 FAM241B HP:0030153 RGD:8554872 IAGP RGD:713363358 H family with sequence similarity 241 member B gene taxon:9606 20260519 ClinVar RGD 1313704 FAM241B HP:0100522 RGD:8554872 IAGP RGD:713363338 H family with sequence similarity 241 member B gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0000007 MIM:233650|MIM:601457|MIM:603554|PMID:19011808|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0000100 ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0000246 PMID:15025726|PMID:24174341|PMID:25741868|PMID:26457731|PMID:28492532|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32888943|RGD:8554872 IAGP RGD:8569715 H recombination activating 2 gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0000265 MIM:601457|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0000388 MIM:601457|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0000509 MIM:601457|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0000561 MIM:603554|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0000778 MIM:603554|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0000821 ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0000944 ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0000958 ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0000962 MIM:603554|PMID:19011808|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0000964 MIM:603554|PMID:25849362|PMID:28414192|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0000969 MIM:603554|ORPHA:39041|PMID:19011808|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0000980 ORPHA:331206|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0000988 MIM:603554|ORPHA:331206|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0000989 ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0001019 MIM:603554|ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20250416 HPO RGD 1313706 RAG2 HP:0001036 MIM:603554|PMID:19011808|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0001045 PMID:15025726|PMID:24174341|PMID:25741868|PMID:26457731|PMID:28492532|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32888943|RGD:8554872 IAGP RGD:8569715 H recombination activating 2 gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0001072 MIM:603554|ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20250416 HPO RGD 1313706 RAG2 HP:0001250 MIM:603554|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0001287 MIM:601457|MIM:603554|PMID:28414192|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0001369 MIM:601457|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0001433 MIM:603554|ORPHA:331206|PMID:19011808|PMID:19830075|PMID:25849362|PMID:28414192|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0001508 MIM:601457|MIM:603554|ORPHA:331206|ORPHA:39041|PMID:19011808|PMID:19830075|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0001581 MIM:603554|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0001596 MIM:603554|ORPHA:39041|PMID:19011808|PMID:19830075|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0001622 PMID:21502542|PMID:24139496|PMID:28492532|RGD:8554872 IAGP RGD:14739337 H recombination activating 2 gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0001744 MIM:603554|ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20250416 HPO RGD 1313706 RAG2 HP:0001831 ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0001873 MIM:603554|ORPHA:331206|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20250416 HPO RGD 1313706 RAG2 HP:0001875 MIM:603554|PMID:19011808|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0001880 MIM:603554|ORPHA:331206|ORPHA:39041|PMID:19011808|PMID:25849362|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0001888 ORPHA:331206|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0001890 ORPHA:331206|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0001903 MIM:603554|ORPHA:39041|PMID:19011808|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0001945 ORPHA:331206|ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20250416 HPO RGD 1313706 RAG2 HP:0001954 MIM:603554|PMID:19011808|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0001974 MIM:603554|ORPHA:39041|PMID:19830075|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0002014 MIM:601457|MIM:603554|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20250416 HPO RGD 1313706 RAG2 HP:0002028 ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0002041 MIM:603554|PMID:19011808|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0002090 MIM:601457|MIM:603554|ORPHA:39041|PMID:19830075|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0002113 MIM:603554|PMID:19011808|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0002205 MIM:233650|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0002223 MIM:603554|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0002240 MIM:603554|ORPHA:331206|ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0002293 MIM:603554|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0002299 MIM:603554|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0002583 PMID:15025726|PMID:24174341|PMID:25741868|PMID:26457731|PMID:28492532|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32888943|RGD:8554872 IAGP RGD:8569715 H recombination activating 2 gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0002665 ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0002665 PMID:15025726|PMID:24174341|PMID:25741868|PMID:26457731|PMID:28492532|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32888943|RGD:8554872 IAGP RGD:8569715 H recombination activating 2 gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0002716 MIM:603554|ORPHA:39041|PMID:19830075|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0002718 MIM:603554|ORPHA:331206|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0002719 PMID:21502542|PMID:24139496|PMID:28492532|RGD:8554872 IAGP RGD:14739337 H recombination activating 2 gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0002720 MIM:603554|ORPHA:331206|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0002720 PMID:15025726|PMID:24174341|PMID:25741868|PMID:26457731|PMID:28492532|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32888943|RGD:8554872 IAGP RGD:8569715 H recombination activating 2 gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0002721 MIM:603554|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0002721 PMID:21502542|PMID:24139496|PMID:28492532|RGD:8554872 IAGP RGD:14739337 H recombination activating 2 gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0002721 PMID:25741868|RGD:8554872 IAGP RGD:401856612 H recombination activating 2 gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0002743 ORPHA:331206|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0002840 ORPHA:331206|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0002841 MIM:603554|ORPHA:331206|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20250416 HPO RGD 1313706 RAG2 HP:0002850 ORPHA:331206|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0002910 ORPHA:331206|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0002960 ORPHA:331206|ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20250416 HPO RGD 1313706 RAG2 HP:0003073 MIM:603554|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0003075 MIM:603554|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0003139 MIM:601457|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0003212 MIM:603554|PMID:19830075|PMID:25849362|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0003577 MIM:603554|PMID:19011808|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0003593 MIM:233650|MIM:603554|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0003623 MIM:603554|PMID:19830075|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0004313 ORPHA:331206|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0004315 MIM:233650|MIM:603554|ORPHA:331206|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0004332 ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0004385 MIM:603554|ORPHA:331206|PMID:19830075|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0004429 MIM:603554|ORPHA:331206|PMID:19011808|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0004430 MIM:601457|ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20250416 HPO RGD 1313706 RAG2 HP:0004430 PMID:10635319|PMID:10777560|PMID:10891502|PMID:11133745|PMID:11908269|PMID:25741868|PMID:29772310|PMID:8617299|PMID:9630231|RGD:8554872 IAGP RGD:8563506 H recombination activating 2 gene taxon:9606 20250408 ClinVar RGD 1313706 RAG2 HP:0004430 PMID:10777560|PMID:11313270|PMID:15025726|PMID:16960852|PMID:23243423|PMID:25741868|PMID:28492532|PMID:28747913|PMID:28769923|PMID:30307608|PMID:33954879|RGD:8554872 IAGP RGD:13794422 H recombination activating 2 gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0004430 PMID:20603253|PMID:21131235|PMID:24481607|PMID:25109802|PMID:25333069|PMID:25741868|PMID:26476733|PMID:26515615|PMID:28492532|PMID:28747913|RGD:8554872 IAGP RGD:8569718 H recombination activating 2 gene taxon:9606 20230912 ClinVar RGD 1313706 RAG2 HP:0004430 PMID:21624848|PMID:25741868|PMID:28492532|PMID:29772310|RGD:8554872 IAGP RGD:12906651 H recombination activating 2 gene taxon:9606 20230606 ClinVar RGD 1313706 RAG2 HP:0004430 RGD:8554872 IAGP RGD:11653216 H recombination activating 2 gene taxon:9606 20211109 ClinVar RGD 1313706 RAG2 HP:0004432 MIM:603554|PMID:19011808|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0005359 MIM:603554|PMID:19011808|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0005387 MIM:233650|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0005390 MIM:601457|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0005403 MIM:233650|MIM:601457|ORPHA:331206|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260209 HPO RGD 1313706 RAG2 HP:0005415 MIM:603554|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0006532 PMID:15025726|PMID:24174341|PMID:25741868|PMID:26457731|PMID:28492532|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32888943|RGD:8554872 IAGP RGD:8569715 H recombination activating 2 gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0007381 MIM:603554|PMID:19011808|PMID:19830075|PMID:25849362|PMID:28414192|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0007549 ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0008070 MIM:603554|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0008866 MIM:601457|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0008940 MIM:603554|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0009098 MIM:603554|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0010783 MIM:603554|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0010975 ORPHA:331206|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0010976 MIM:233650|MIM:601457|MIM:603554|PMID:19011808|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0011132 PMID:15025726|PMID:24174341|PMID:25741868|PMID:26457731|PMID:28492532|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32888943|RGD:8554872 IAGP RGD:8569715 H recombination activating 2 gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0011227 MIM:603554|PMID:28414192|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0011839 MIM:603554|ORPHA:331206|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0012229 MIM:603554|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0020116 MIM:603554|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0025289 MIM:603554|PMID:19011808|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0025805 MIM:603554|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0025811 MIM:603554|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0025817 MIM:603554|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0025834 MIM:603554|PMID:19011808|PMID:19830075|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260618 HPO RGD 1313706 RAG2 HP:0030252 MIM:603554|PMID:19830075|PMID:25849362|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0031381 ORPHA:331206|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0031382 MIM:603554|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0031402 ORPHA:331206|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0031430 MIM:603554|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0031690 PMID:15025726|PMID:24174341|PMID:25741868|PMID:26457731|PMID:28492532|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32888943|RGD:8554872 IAGP RGD:8569715 H recombination activating 2 gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0031864 MIM:603554|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0032022 MIM:603554|PMID:19011808|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0032139 MIM:603554|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0033221 MIM:603554|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0033399 MIM:603554|PMID:19830075|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0034751 MIM:603554|PMID:19011808|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0034752 MIM:603554|PMID:19011808|PMID:28414192|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0040089 MIM:603554|ORPHA:331206|PMID:19011808|PMID:19830075|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0040189 MIM:603554|PMID:19011808|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0040219 MIM:603554|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0040334 MIM:601457|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0100633 PMID:15025726|PMID:24174341|PMID:25741868|PMID:26457731|PMID:28492532|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32888943|RGD:8554872 IAGP RGD:8569715 H recombination activating 2 gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0100646 ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0100646 PMID:15025726|PMID:24174341|PMID:25741868|PMID:26457731|PMID:28492532|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32888943|RGD:8554872 IAGP RGD:8569715 H recombination activating 2 gene taxon:9606 20260519 ClinVar RGD 1313706 RAG2 HP:0100806 MIM:603554|ORPHA:39041|PMID:28414192|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0100827 MIM:603554|PMID:19830075|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0100840 ORPHA:39041|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0200039 MIM:603554|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0200117 ORPHA:331206|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20230821 HPO RGD 1313706 RAG2 HP:0410295 MIM:603554|PMID:25849362|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:0410378 MIM:603554|PMID:37269334|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313706 RAG2 HP:6001166 MIM:603554|PMID:25849362|PMID:28414192|RGD:8699517 IAGP H recombination activating 2 gene taxon:9606 20260423 HPO RGD 1313708 FGD5 HP:0002665 RGD:8554872 IAGP RGD:713597527 H FYVE, RhoGEF and PH domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313708 FGD5 HP:0004808 RGD:8554872 IAGP RGD:713955794 H FYVE, RhoGEF and PH domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313708 FGD5 HP:0004808 RGD:8554872 IAGP RGD:713957236 H FYVE, RhoGEF and PH domain containing 5 gene taxon:9606 20260707 ClinVar RGD 1313708 FGD5 HP:0006725 RGD:8554872 IAGP RGD:713820342 H FYVE, RhoGEF and PH domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313708 FGD5 HP:0006770 RGD:8554872 IAGP RGD:713955794 H FYVE, RhoGEF and PH domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313708 FGD5 HP:0030153 RGD:8554872 IAGP RGD:713597578 H FYVE, RhoGEF and PH domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313708 FGD5 HP:0030153 RGD:8554872 IAGP RGD:713955794 H FYVE, RhoGEF and PH domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313708 FGD5 HP:0100242 RGD:8554872 IAGP RGD:713597515 H FYVE, RhoGEF and PH domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313708 FGD5 HP:0100242 RGD:8554872 IAGP RGD:713597567 H FYVE, RhoGEF and PH domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313708 FGD5 HP:0100242 RGD:8554872 IAGP RGD:713819715 H FYVE, RhoGEF and PH domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313708 FGD5 HP:0100242 RGD:8554872 IAGP RGD:713957236 H FYVE, RhoGEF and PH domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313708 FGD5 HP:0100522 RGD:8554872 IAGP RGD:713955794 H FYVE, RhoGEF and PH domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313708 FGD5 HP:0100526 RGD:8554872 IAGP RGD:713955794 H FYVE, RhoGEF and PH domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313708 FGD5 HP:0100615 RGD:8554872 IAGP RGD:713820270 H FYVE, RhoGEF and PH domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313708 FGD5 HP:0100615 RGD:8554872 IAGP RGD:713955794 H FYVE, RhoGEF and PH domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0000007 MIM:246700|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0000121 PMID:12692552|PMID:25741868|RGD:8554872 IAGP RGD:127328364 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0000488 ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0000505 ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0000848 PMID:12692552|PMID:25741868|RGD:8554872 IAGP RGD:127328364 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0000859 PMID:12692552|PMID:25741868|RGD:8554872 IAGP RGD:127328364 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0001249 MIM:246700|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0001284 ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0001315 MIM:246700|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0001397 ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0001508 MIM:246700|ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20250416 HPO RGD 1313710 SAR1B HP:0001508 PMID:12692552|PMID:25741868|RGD:8554872 IAGP RGD:127328364 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0001510 MIM:246700|ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20250416 HPO RGD 1313710 SAR1B HP:0001927 ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0002013 MIM:246700|ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20250416 HPO RGD 1313710 SAR1B HP:0002013 PMID:12692552|PMID:25741868|RGD:8554872 IAGP RGD:127328364 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0002014 MIM:246700|ORPHA:71|PMID:2426307|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20250912 HPO RGD 1313710 SAR1B HP:0002014 PMID:12692552|PMID:25741868|RGD:8554872 IAGP RGD:127328364 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0002155 ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0002495 MIM:246700|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0002570 MIM:246700|ORPHA:71|PMID:2426307|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20250912 HPO RGD 1313710 SAR1B HP:0002630 ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0002910 ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0003073 MIM:246700|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0003146 MIM:246700|ORPHA:71|PMID:2426307|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20250912 HPO RGD 1313710 SAR1B HP:0003198 ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0003270 ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0003458 ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0003563 MIM:246700|PMID:2426307|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20250912 HPO RGD 1313710 SAR1B HP:0003593 MIM:246700|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0004395 MIM:246700|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0004808 RGD:8554872 IAGP RGD:150485332 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0004808 RGD:8554872 IAGP RGD:713452573 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0004808 RGD:8554872 IAGP RGD:713455906 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0004808 RGD:8554872 IAGP RGD:713460251 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0004808 RGD:8554872 IAGP RGD:713465040 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0006565 ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0006770 RGD:8554872 IAGP RGD:713876642 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0007716 RGD:8554872 IAGP RGD:714012117 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0010831 ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0012126 RGD:8554872 IAGP RGD:713781692 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0012126 RGD:8554872 IAGP RGD:713781705 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0012153 MIM:246700|PMID:2426307|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20250912 HPO RGD 1313710 SAR1B HP:0030153 RGD:8554872 IAGP RGD:150485332 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313710 SAR1B HP:0034787 MIM:246700|PMID:2426307|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20250912 HPO RGD 1313710 SAR1B HP:0100508 ORPHA:71|RGD:8699517 IAGP H secretion associated Ras related GTPase 1B gene taxon:9606 20230821 HPO RGD 1313710 SAR1B HP:0100526 RGD:8554872 IAGP RGD:150485332 H secretion associated Ras related GTPase 1B gene taxon:9606 20260519 ClinVar RGD 1313712 SLC37A2 HP:0001402 RGD:8554872 IAGP RGD:714157529 H solute carrier family 37 member 2 gene taxon:9606 20260519 ClinVar RGD 1313712 SLC37A2 HP:0002861 RGD:8554872 IAGP RGD:714219964 H solute carrier family 37 member 2 gene taxon:9606 20260519 ClinVar RGD 1313712 SLC37A2 HP:0004808 RGD:8554872 IAGP RGD:713741460 H solute carrier family 37 member 2 gene taxon:9606 20260519 ClinVar RGD 1313712 SLC37A2 HP:0004808 RGD:8554872 IAGP RGD:713746804 H solute carrier family 37 member 2 gene taxon:9606 20260519 ClinVar RGD 1313712 SLC37A2 HP:0006770 RGD:8554872 IAGP RGD:714219997 H solute carrier family 37 member 2 gene taxon:9606 20260519 ClinVar RGD 1313712 SLC37A2 HP:0012126 RGD:8554872 IAGP RGD:713741435 H solute carrier family 37 member 2 gene taxon:9606 20260519 ClinVar RGD 1313712 SLC37A2 HP:0030153 RGD:8554872 IAGP RGD:713741412 H solute carrier family 37 member 2 gene taxon:9606 20260519 ClinVar RGD 1313712 SLC37A2 HP:0030153 RGD:8554872 IAGP RGD:714091583 H solute carrier family 37 member 2 gene taxon:9606 20260519 ClinVar RGD 1313712 SLC37A2 HP:0030359 RGD:8554872 IAGP RGD:714220002 H solute carrier family 37 member 2 gene taxon:9606 20260519 ClinVar RGD 1313712 SLC37A2 HP:0100242 RGD:8554872 IAGP RGD:713746804 H solute carrier family 37 member 2 gene taxon:9606 20260519 ClinVar RGD 1313712 SLC37A2 HP:0100242 RGD:8554872 IAGP RGD:714219982 H solute carrier family 37 member 2 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0001402 RGD:8554872 IAGP RGD:714189018 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0002861 RGD:8554872 IAGP RGD:713885039 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0002861 RGD:8554872 IAGP RGD:713885075 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0002861 RGD:8554872 IAGP RGD:713885181 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0002861 RGD:8554872 IAGP RGD:714189018 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0004808 RGD:8554872 IAGP RGD:714189018 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0007716 RGD:8554872 IAGP RGD:714189018 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0012126 RGD:8554872 IAGP RGD:714270872 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0030153 RGD:8554872 IAGP RGD:713885165 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0100242 RGD:8554872 IAGP RGD:714189018 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0100242 RGD:8554872 IAGP RGD:714190251 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0100522 RGD:8554872 IAGP RGD:714189018 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0100526 RGD:8554872 IAGP RGD:713885018 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0100526 RGD:8554872 IAGP RGD:713885051 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0100526 RGD:8554872 IAGP RGD:713885084 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313717 ADGRE5 HP:0100526 RGD:8554872 IAGP RGD:714189018 H adhesion G protein-coupled receptor E5 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0000007 MIM:614409|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0000020 MIM:614409|ORPHA:320391|ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250416 HPO RGD 1313721 GBA2 HP:0000365 MIM:614409|ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250416 HPO RGD 1313721 GBA2 HP:0000407 ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0000486 PMID:25741868|RGD:8554872 IAGP RGD:408378112 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0000518 MIM:614409|ORPHA:320391|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0000518 PMID:25741868|RGD:8554872 IAGP RGD:401721135 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0000518 PMID:25741868|RGD:8554872 IAGP RGD:408378112 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0000570 ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0000639 MIM:614409|ORPHA:320391|ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250416 HPO RGD 1313721 GBA2 HP:0000726 MIM:614409|ORPHA:320391|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0000789 MIM:614409|ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250416 HPO RGD 1313721 GBA2 HP:0001249 MIM:614409|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0001249 PMID:23332916|PMID:23332917|PMID:28492532|RGD:8554872 IAGP RGD:40888058 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38466164 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001251 ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0001251 PMID:23332916|PMID:23332917|PMID:25741868|PMID:26220345|PMID:28492532|RGD:8554872 IAGP RGD:8604639 H glucosylceramidase beta 2 gene taxon:9606 20260602 ClinVar RGD 1313721 GBA2 HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:38457471 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001251 PMID:25741868|RGD:8554872 IAGP RGD:408378112 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001256 ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0001257 ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0001257 PMID:23332916|PMID:23332917|PMID:25741868|PMID:26220345|PMID:28492532|RGD:8554872 IAGP RGD:8604639 H glucosylceramidase beta 2 gene taxon:9606 20260602 ClinVar RGD 1313721 GBA2 HP:0001258 MIM:614409|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0001258 PMID:16199547|PMID:23332916|PMID:23332917|PMID:28492532|RGD:8554872 IAGP RGD:127243265 H glucosylceramidase beta 2 gene taxon:9606 20230307 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:16199547|PMID:23332916|PMID:23332917|PMID:28492532|RGD:8554872 IAGP RGD:41405989 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:16199547|PMID:23332916|PMID:23332917|PMID:28492532|RGD:8554872 IAGP RGD:597895286 H glucosylceramidase beta 2 gene taxon:9606 20250311 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13537277 H glucosylceramidase beta 2 gene taxon:9606 20241112 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13615791 H glucosylceramidase beta 2 gene taxon:9606 20220607 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:14711079 H glucosylceramidase beta 2 gene taxon:9606 20210406 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:155974492 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:156310505 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:23332916|PMID:23332917|PMID:25741868|PMID:26220345|PMID:28492532|RGD:8554872 IAGP RGD:8604639 H glucosylceramidase beta 2 gene taxon:9606 20260602 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:23332916|PMID:23332917|PMID:25741868|PMID:26220345|PMID:28492532|RGD:8554872 IAGP RGD:8604640 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:23332916|PMID:23332917|PMID:28052128|PMID:28492532|RGD:8554872 IAGP RGD:156033313 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:23332916|PMID:23332917|PMID:28492532|PMID:33397523|RGD:8554872 IAGP RGD:13808982 H glucosylceramidase beta 2 gene taxon:9606 20240611 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:23332916|PMID:23332917|PMID:28492532|RGD:8554872 IAGP RGD:14706552 H glucosylceramidase beta 2 gene taxon:9606 20220607 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:23332916|PMID:23332917|PMID:28492532|RGD:8554872 IAGP RGD:151755249 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:23332916|PMID:23332917|PMID:28492532|RGD:8554872 IAGP RGD:151757759 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:23332916|PMID:23332917|PMID:28492532|RGD:8554872 IAGP RGD:156118076 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:23332916|PMID:23332917|PMID:28492532|RGD:8554872 IAGP RGD:156395195 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:23332916|PMID:23332917|PMID:28492532|RGD:8554872 IAGP RGD:405114303 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:23332916|PMID:23332917|PMID:28492532|RGD:8554872 IAGP RGD:405177795 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:23332916|PMID:23332917|PMID:28492532|RGD:8554872 IAGP RGD:405653996 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:24252062|PMID:25741868|PMID:28492532|PMID:30560021|PMID:30662006|RGD:8554872 IAGP RGD:13476736 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|PMID:33956305|PMID:34782662|RGD:8554872 IAGP RGD:597849479 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|PMID:34782662|RGD:8554872 IAGP RGD:156447250 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11350176 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126751026 H glucosylceramidase beta 2 gene taxon:9606 20240202 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127234133 H glucosylceramidase beta 2 gene taxon:9606 20240312 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127234412 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127273030 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12881111 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12881994 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12884716 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12886176 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12888975 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13490893 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13532574 H glucosylceramidase beta 2 gene taxon:9606 20211012 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13615818 H glucosylceramidase beta 2 gene taxon:9606 20210406 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14714882 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14720039 H glucosylceramidase beta 2 gene taxon:9606 20230411 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14729140 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14731534 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15115398 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15123712 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151755147 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151755165 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26920063 H glucosylceramidase beta 2 gene taxon:9606 20210406 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|RGD:8554872 IAGP RGD:127234135 H glucosylceramidase beta 2 gene taxon:9606 20210608 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|RGD:8554872 IAGP RGD:127234417 H glucosylceramidase beta 2 gene taxon:9606 20210608 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|RGD:8554872 IAGP RGD:401855648 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:25741868|RGD:8554872 IAGP RGD:408378112 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|PMID:29980238|PMID:34251556|RGD:8554872 IAGP RGD:14740589 H glucosylceramidase beta 2 gene taxon:9606 20240312 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|PMID:29980238|PMID:34251556|RGD:8554872 IAGP RGD:405195987 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|PMID:32590105|RGD:8554872 IAGP RGD:13475983 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:126733134 H glucosylceramidase beta 2 gene taxon:9606 20210406 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:126733487 H glucosylceramidase beta 2 gene taxon:9606 20210406 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:126764897 H glucosylceramidase beta 2 gene taxon:9606 20210406 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:126770478 H glucosylceramidase beta 2 gene taxon:9606 20210406 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:126924447 H glucosylceramidase beta 2 gene taxon:9606 20210511 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:127238233 H glucosylceramidase beta 2 gene taxon:9606 20210608 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:127276670 H glucosylceramidase beta 2 gene taxon:9606 20210608 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:127285906 H glucosylceramidase beta 2 gene taxon:9606 20210706 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:127292667 H glucosylceramidase beta 2 gene taxon:9606 20210706 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:127307833 H glucosylceramidase beta 2 gene taxon:9606 20210706 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:127312818 H glucosylceramidase beta 2 gene taxon:9606 20210706 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:127322214 H glucosylceramidase beta 2 gene taxon:9606 20210706 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:127329533 H glucosylceramidase beta 2 gene taxon:9606 20210706 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:12885497 H glucosylceramidase beta 2 gene taxon:9606 20210706 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:12886812 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:12887690 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:13474870 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:13479434 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:13484880 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:13615838 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:13615936 H glucosylceramidase beta 2 gene taxon:9606 20210608 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:13615945 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:13627207 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:13805516 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:13809638 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:13815307 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:13817441 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:13821026 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:14703831 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:14707357 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:14708487 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:14722951 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:14723591 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:14724203 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:14732993 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:14733897 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:15105752 H glucosylceramidase beta 2 gene taxon:9606 20220510 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:15118495 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:15131349 H glucosylceramidase beta 2 gene taxon:9606 20210706 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:15131512 H glucosylceramidase beta 2 gene taxon:9606 20241112 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:15134280 H glucosylceramidase beta 2 gene taxon:9606 20210608 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:15156109 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:15156308 H glucosylceramidase beta 2 gene taxon:9606 20210706 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:15170138 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:151711673 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:151715110 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:151808038 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:151820885 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:151822979 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:151872042 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:151882696 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:151887242 H glucosylceramidase beta 2 gene taxon:9606 20220420 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:152039032 H glucosylceramidase beta 2 gene taxon:9606 20220510 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:152061039 H glucosylceramidase beta 2 gene taxon:9606 20220510 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:152064654 H glucosylceramidase beta 2 gene taxon:9606 20220510 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:152077064 H glucosylceramidase beta 2 gene taxon:9606 20220510 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:152108691 H glucosylceramidase beta 2 gene taxon:9606 20220510 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:152123015 H glucosylceramidase beta 2 gene taxon:9606 20220510 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:152158923 H glucosylceramidase beta 2 gene taxon:9606 20220510 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:155932522 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:155960526 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:155983972 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156006642 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156031211 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156037211 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156038116 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156046516 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156046545 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156059544 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156061604 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156061787 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156096620 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156127772 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156133968 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156136800 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156157990 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156165155 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156173687 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156188007 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156197934 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156205365 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156217638 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156265400 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156266470 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156271750 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156272309 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156284394 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156293919 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156305927 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156309582 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156319590 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156328512 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156330741 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156335464 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156342844 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156378800 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156386406 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156386454 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156387618 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156388399 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156389949 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156393727 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156398094 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156406701 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156413669 H glucosylceramidase beta 2 gene taxon:9606 20230214 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:156437667 H glucosylceramidase beta 2 gene taxon:9606 20230307 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:26904053 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:26904056 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:26905200 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:26905570 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:38456774 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:38465053 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:38466463 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:38475027 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:38484277 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:38488550 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:38490760 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:38490891 H glucosylceramidase beta 2 gene taxon:9606 20210323 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:402471171 H glucosylceramidase beta 2 gene taxon:9606 20240312 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405087489 H glucosylceramidase beta 2 gene taxon:9606 20240319 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405107165 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405109625 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405111307 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405115562 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405115745 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405116521 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405117414 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405117642 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405179674 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405180138 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405184029 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405191418 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405194744 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405195856 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405195969 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405197257 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405197917 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405198074 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405199261 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405206855 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:405208737 H glucosylceramidase beta 2 gene taxon:9606 20240403 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:597849486 H glucosylceramidase beta 2 gene taxon:9606 20250311 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:597869561 H glucosylceramidase beta 2 gene taxon:9606 20250311 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:597873550 H glucosylceramidase beta 2 gene taxon:9606 20250311 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:597875855 H glucosylceramidase beta 2 gene taxon:9606 20250311 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:597889694 H glucosylceramidase beta 2 gene taxon:9606 20250311 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:597901803 H glucosylceramidase beta 2 gene taxon:9606 20250311 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:597919675 H glucosylceramidase beta 2 gene taxon:9606 20250311 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:597922998 H glucosylceramidase beta 2 gene taxon:9606 20250311 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:597924604 H glucosylceramidase beta 2 gene taxon:9606 20250311 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:597942558 H glucosylceramidase beta 2 gene taxon:9606 20250311 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:597975944 H glucosylceramidase beta 2 gene taxon:9606 20250311 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:713635294 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:713642874 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:713710062 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:714080982 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001258 PMID:28492532|RGD:8554872 IAGP RGD:714164646 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001260 MIM:614409|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0001260 PMID:25741868|RGD:8554872 IAGP RGD:408378112 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001268 MIM:614409|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0001268 PMID:25741868|RGD:8554872 IAGP RGD:408378112 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001272 MIM:614409|ORPHA:320391|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0001288 ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20240815 HPO RGD 1313721 GBA2 HP:0001298 PMID:25741868|RGD:8554872 IAGP RGD:401721135 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001317 PMID:25741868|RGD:8554872 IAGP RGD:401855648 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0001347 MIM:614409|ORPHA:320391|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0001348 ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0001761 MIM:614409|ORPHA:320391|ORPHA:352641|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0002015 ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0002059 MIM:614409|ORPHA:320391|ORPHA:352641|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0002061 MIM:614409|ORPHA:320391|ORPHA:352641|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20260209 HPO RGD 1313721 GBA2 HP:0002064 MIM:614409|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0002066 ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0002073 ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0002078 ORPHA:320391|ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250416 HPO RGD 1313721 GBA2 HP:0002079 MIM:614409|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0002120 ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0002136 ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0002166 MIM:614409|ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250416 HPO RGD 1313721 GBA2 HP:0002180 PMID:25741868|RGD:8554872 IAGP RGD:401855648 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0002310 MIM:614409|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0002313 PMID:25741868|RGD:8554872 IAGP RGD:401721135 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0002346 MIM:614409|ORPHA:320391|ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250416 HPO RGD 1313721 GBA2 HP:0002378 MIM:614409|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0002406 MIM:614409|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0002464 ORPHA:320391|ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250416 HPO RGD 1313721 GBA2 HP:0002495 MIM:614409|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0002500 ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0002650 MIM:614409|ORPHA:320391|ORPHA:352641|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0002808 MIM:614409|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0003477 ORPHA:320391|ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250416 HPO RGD 1313721 GBA2 HP:0003487 MIM:614409|ORPHA:320391|ORPHA:352641|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0003621 MIM:614409|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0003676 MIM:614409|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0003690 MIM:614409|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0003693 ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0004905 ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0006770 RGD:8554872 IAGP RGD:713757533 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0006770 RGD:8554872 IAGP RGD:713757573 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0006770 RGD:8554872 IAGP RGD:713757588 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0006938 ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0006986 MIM:614409|ORPHA:320391|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0007141 ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0007256 ORPHA:320391|ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250416 HPO RGD 1313721 GBA2 HP:0007340 MIM:614409|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0007371 ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0008003 MIM:614409|ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250416 HPO RGD 1313721 GBA2 HP:0008734 ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0010831 ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0011448 MIM:614409|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0011449 MIM:614409|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0011463 MIM:614409|PMID:20593214|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20250912 HPO RGD 1313721 GBA2 HP:0011797 RGD:8554872 IAGP RGD:714261587 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:13442809 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0012207 ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0012864 ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0012865 ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0020036 MIM:614409|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0033127 PMID:25741868|RGD:8554872 IAGP RGD:401887434 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0033725 PMID:25741868|RGD:8554872 IAGP RGD:408378112 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0100242 RGD:8554872 IAGP RGD:713757600 H glucosylceramidase beta 2 gene taxon:9606 20260519 ClinVar RGD 1313721 GBA2 HP:0100261 ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0100513 ORPHA:352641|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313721 GBA2 HP:0100543 ORPHA:320391|RGD:8699517 IAGP H glucosylceramidase beta 2 gene taxon:9606 20230821 HPO RGD 1313725 RSPH14 HP:0006770 RGD:8554872 IAGP RGD:713830420 H radial spoke head 14 homolog gene taxon:9606 20260519 ClinVar RGD 1313725 RSPH14 HP:0006770 RGD:8554872 IAGP RGD:713885944 H radial spoke head 14 homolog gene taxon:9606 20260519 ClinVar RGD 1313725 RSPH14 HP:0012126 RGD:8554872 IAGP RGD:713599762 H radial spoke head 14 homolog gene taxon:9606 20260519 ClinVar RGD 1313725 RSPH14 HP:0100242 RGD:8554872 IAGP RGD:713885929 H radial spoke head 14 homolog gene taxon:9606 20260519 ClinVar RGD 1313725 RSPH14 HP:0100522 RGD:8554872 IAGP RGD:713885795 H radial spoke head 14 homolog gene taxon:9606 20260519 ClinVar RGD 1313727 EPHB3 HP:0001402 RGD:8554872 IAGP RGD:714265092 H EPH receptor B3 gene taxon:9606 20260519 ClinVar RGD 1313727 EPHB3 HP:0002861 RGD:8554872 IAGP RGD:713843084 H EPH receptor B3 gene taxon:9606 20260519 ClinVar RGD 1313727 EPHB3 HP:0002861 RGD:8554872 IAGP RGD:713843110 H EPH receptor B3 gene taxon:9606 20260519 ClinVar RGD 1313727 EPHB3 HP:0002861 RGD:8554872 IAGP RGD:713843306 H EPH receptor B3 gene taxon:9606 20260519 ClinVar RGD 1313727 EPHB3 HP:0006770 RGD:8554872 IAGP RGD:713843066 H EPH receptor B3 gene taxon:9606 20260519 ClinVar RGD 1313727 EPHB3 HP:0012126 RGD:8554872 IAGP RGD:713600633 H EPH receptor B3 gene taxon:9606 20260519 ClinVar RGD 1313727 EPHB3 HP:0030153 RGD:8554872 IAGP RGD:713843173 H EPH receptor B3 gene taxon:9606 20260519 ClinVar RGD 1313727 EPHB3 HP:0030359 RGD:8554872 IAGP RGD:713843190 H EPH receptor B3 gene taxon:9606 20260519 ClinVar RGD 1313729 PFDN1 HP:0001402 RGD:8554872 IAGP RGD:713754705 H prefoldin subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313729 PFDN1 HP:0006770 RGD:8554872 IAGP RGD:713881609 H prefoldin subunit 1 gene taxon:9606 20260519 ClinVar RGD 1313732 NOP14 HP:0012126 RGD:8554872 IAGP RGD:713929319 H NOP14 nucleolar protein gene taxon:9606 20260519 ClinVar RGD 1313732 NOP14 HP:0100242 RGD:8554872 IAGP RGD:714241718 H NOP14 nucleolar protein gene taxon:9606 20260519 ClinVar RGD 1313732 NOP14 HP:0100242 RGD:8554872 IAGP RGD:714241722 H NOP14 nucleolar protein gene taxon:9606 20260519 ClinVar RGD 1313735 ADAMTSL5 HP:0002861 RGD:8554872 IAGP RGD:713886977 H ADAMTS like 5 gene taxon:9606 20260519 ClinVar RGD 1313735 ADAMTSL5 HP:0011797 RGD:8554872 IAGP RGD:714189007 H ADAMTS like 5 gene taxon:9606 20260519 ClinVar RGD 1313737 ADGRB1 HP:0000483 PMID:25741868|RGD:8554872 IAGP RGD:616933586 H adhesion G protein-coupled receptor B1 gene taxon:9606 20260519 ClinVar RGD 1313737 ADGRB1 HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:616933586 H adhesion G protein-coupled receptor B1 gene taxon:9606 20260519 ClinVar RGD 1313737 ADGRB1 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:616933586 H adhesion G protein-coupled receptor B1 gene taxon:9606 20260519 ClinVar RGD 1313737 ADGRB1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:616933586 H adhesion G protein-coupled receptor B1 gene taxon:9606 20260519 ClinVar RGD 1313737 ADGRB1 HP:0001402 RGD:8554872 IAGP RGD:714085172 H adhesion G protein-coupled receptor B1 gene taxon:9606 20260519 ClinVar RGD 1313737 ADGRB1 HP:0002861 RGD:8554872 IAGP RGD:714093089 H adhesion G protein-coupled receptor B1 gene taxon:9606 20260519 ClinVar RGD 1313737 ADGRB1 HP:0004387 PMID:25741868|RGD:8554872 IAGP RGD:616933586 H adhesion G protein-coupled receptor B1 gene taxon:9606 20260519 ClinVar RGD 1313737 ADGRB1 HP:0007018 PMID:25741868|RGD:8554872 IAGP RGD:616933586 H adhesion G protein-coupled receptor B1 gene taxon:9606 20260519 ClinVar RGD 1313737 ADGRB1 HP:0011797 RGD:8554872 IAGP RGD:713497458 H adhesion G protein-coupled receptor B1 gene taxon:9606 20260519 ClinVar RGD 1313737 ADGRB1 HP:0012537 PMID:25741868|RGD:8554872 IAGP RGD:616933586 H adhesion G protein-coupled receptor B1 gene taxon:9606 20260519 ClinVar RGD 1313737 ADGRB1 HP:0033454 PMID:25741868|RGD:8554872 IAGP RGD:616933586 H adhesion G protein-coupled receptor B1 gene taxon:9606 20260519 ClinVar RGD 1313737 ADGRB1 HP:0100242 RGD:8554872 IAGP RGD:714093141 H adhesion G protein-coupled receptor B1 gene taxon:9606 20260519 ClinVar RGD 1313737 ADGRB1 HP:0100615 RGD:8554872 IAGP RGD:714093067 H adhesion G protein-coupled receptor B1 gene taxon:9606 20260519 ClinVar RGD 1313739 SHCBP1L HP:0002861 RGD:8554872 IAGP RGD:713505544 H SHC binding and spindle associated 1 like gene taxon:9606 20260519 ClinVar RGD 1313739 SHCBP1L HP:0012125 RGD:8554872 IAGP RGD:9687094 H SHC binding and spindle associated 1 like gene taxon:9606 20250708 ClinVar RGD 1313739 SHCBP1L HP:0012126 RGD:8554872 IAGP RGD:713571907 H SHC binding and spindle associated 1 like gene taxon:9606 20260519 ClinVar RGD 1313739 SHCBP1L HP:0012126 RGD:8554872 IAGP RGD:713571927 H SHC binding and spindle associated 1 like gene taxon:9606 20260519 ClinVar RGD 1313739 SHCBP1L HP:0100522 RGD:8554872 IAGP RGD:713505653 H SHC binding and spindle associated 1 like gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0001402 RGD:8554872 IAGP RGD:713462177 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0001402 RGD:8554872 IAGP RGD:714073572 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0002665 RGD:8554872 IAGP RGD:713462177 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0003003 RGD:8554872 IAGP RGD:713462177 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0003003 RGD:8554872 IAGP RGD:714196935 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0004808 RGD:8554872 IAGP RGD:713454359 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0004808 RGD:8554872 IAGP RGD:713462177 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0006770 RGD:8554872 IAGP RGD:714196898 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0006770 RGD:8554872 IAGP RGD:714196915 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0006770 RGD:8554872 IAGP RGD:714196921 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0006770 RGD:8554872 IAGP RGD:714196928 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0011797 RGD:8554872 IAGP RGD:713454395 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0012126 RGD:8554872 IAGP RGD:713462177 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0012126 RGD:8554872 IAGP RGD:713777406 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0012126 RGD:8554872 IAGP RGD:713777430 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0100242 RGD:8554872 IAGP RGD:713462177 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0100242 RGD:8554872 IAGP RGD:714196875 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0100242 RGD:8554872 IAGP RGD:714197101 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0100522 RGD:8554872 IAGP RGD:714196853 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0100522 RGD:8554872 IAGP RGD:714197071 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0100526 RGD:8554872 IAGP RGD:713462177 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0100615 RGD:8554872 IAGP RGD:713462177 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0100615 RGD:8554872 IAGP RGD:714117640 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313741 SH3TC1 HP:0100615 RGD:8554872 IAGP RGD:714197052 H SH3 domain and tetratricopeptide repeats 1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0000006 MIM:607174|MIM:616938|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20251023 HPO RGD 1313743 SMARCE1 HP:0000020 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000028 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000044 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000047 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000085 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000119 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000141 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000154 MIM:616938|ORPHA:1465|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0000179 MIM:616938|ORPHA:1465|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0000219 MIM:616938|ORPHA:1465|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0000238 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000252 MIM:616938|ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260209 HPO RGD 1313743 SMARCE1 HP:0000280 MIM:616938|ORPHA:1465|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260209 HPO RGD 1313743 SMARCE1 HP:0000289 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000294 MIM:616938|ORPHA:1465|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0000322 MIM:616938|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0000360 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000365 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20251023 HPO RGD 1313743 SMARCE1 HP:0000365 RGD:8554872 IAGP RGD:713501375 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0000445 MIM:616938|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0000455 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000463 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000486 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000505 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000508 MIM:616938|ORPHA:1465|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0000520 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260209 HPO RGD 1313743 SMARCE1 HP:0000527 MIM:616938|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0000540 PMID:28492532|RGD:8554872 IAGP RGD:597874638 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0000545 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000574 MIM:616938|ORPHA:1465|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0000602 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000618 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000684 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000708 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000712 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000717 PMID:28492532|PMID:35980532|RGD:8554872 IAGP RGD:12884002 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0000717 RGD:8554872 IAGP RGD:713501375 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0000718 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000729 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000750 PMID:28492532|PMID:35980532|RGD:8554872 IAGP RGD:12884002 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0000752 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000802 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000870 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0000998 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001007 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001067 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001085 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001166 MIM:616938|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001249 MIM:616938|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260209 HPO RGD 1313743 SMARCE1 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:40814632 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20210323 ClinVar RGD 1313743 SMARCE1 HP:0001249 PMID:28492532|PMID:35980532|RGD:8554872 IAGP RGD:12884002 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0001250 MIM:616938|ORPHA:1465|ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250416 HPO RGD 1313743 SMARCE1 HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:15109096 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0001251 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001262 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001263 MIM:616938|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260209 HPO RGD 1313743 SMARCE1 HP:0001263 RGD:8554872 IAGP RGD:713501375 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0001269 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001274 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001279 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001288 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20240815 HPO RGD 1313743 SMARCE1 HP:0001305 MIM:616938|ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250416 HPO RGD 1313743 SMARCE1 HP:0001317 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001321 MIM:616938|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001342 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001344 MIM:616938|ORPHA:1465|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0001357 RGD:8554872 IAGP RGD:713501375 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0001382 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260209 HPO RGD 1313743 SMARCE1 HP:0001402 RGD:8554872 IAGP RGD:713358136 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0001402 RGD:8554872 IAGP RGD:713358149 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0001510 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001511 MIM:616938|ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260209 HPO RGD 1313743 SMARCE1 HP:0001513 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001520 RGD:8554872 IAGP RGD:713501375 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0001627 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001629 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001631 MIM:616938|ORPHA:1465|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0001636 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001643 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001792 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001800 MIM:616938|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0001810 MIM:616938|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001852 MIM:616938|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0001999 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0001999 RGD:8554872 IAGP RGD:713501375 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0002006 PMID:25741868|PMID:26760213|PMID:27993330|PMID:29489754|PMID:32025007|RGD:8554872 IAGP RGD:127286233 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0002017 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0002079 MIM:616938|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0002167 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0002209 MIM:616938|ORPHA:1465|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0002315 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20251023 HPO RGD 1313743 SMARCE1 HP:0002342 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0002353 PMID:28492532|RGD:8554872 IAGP RGD:597874638 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0002353 RGD:8554872 IAGP RGD:713501375 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0002354 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0002493 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151717120 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0002512 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0002516 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0002650 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20251023 HPO RGD 1313743 SMARCE1 HP:0002719 MIM:616938|ORPHA:1465|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0002719 PMID:28492532|RGD:8554872 IAGP RGD:597874638 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0002750 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0002788 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0002858 MIM:607174|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0002858 PMID:17576681|PMID:28492532|PMID:35101336|PMID:9536098|RGD:8554872 IAGP RGD:713547456 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0002858 PMID:25741868|RGD:8554872 IAGP RGD:730468038 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260616 ClinVar RGD 1313743 SMARCE1 HP:0002884 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0002895 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0002920 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0002960 PMID:28492532|RGD:8554872 IAGP RGD:597874638 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0003002 PMID:28492532|RGD:8554872 IAGP RGD:597874638 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0003196 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0003418 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0003484 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0003581 MIM:607174|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0003829 MIM:607174|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0004302 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0004322 MIM:616938|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0004408 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0004808 RGD:8554872 IAGP RGD:150434771 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0005280 MIM:616938|ORPHA:1465|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260209 HPO RGD 1313743 SMARCE1 HP:0006520 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0006824 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0007340 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0007359 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0007359 RGD:8554872 IAGP RGD:713501375 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0007715 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0007924 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0008069 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0008163 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0008202 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0008214 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0008237 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0008240 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0008245 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0008398 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0008751 PMID:25741868|RGD:8554872 IAGP RGD:598231186 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0008897 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260209 HPO RGD 1313743 SMARCE1 HP:0008947 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0009237 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0009879 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0009882 MIM:616938|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0009928 MIM:616938|ORPHA:1465|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0010534 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0010628 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0010828 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0010864 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0010997 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0011133 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0011231 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0011442 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0011730 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0011750 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0011752 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0011797 RGD:8554872 IAGP RGD:713706980 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0011937 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0011951 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0011968 MIM:616938|ORPHA:1465|PMID:23906836|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20250912 HPO RGD 1313743 SMARCE1 HP:0012246 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0012285 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0012505 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0012523 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0012658 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0012691 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0012758 RGD:8554872 IAGP RGD:13531455 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0012810 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0030084 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0030341 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0030344 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0030521 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0030532 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0030591 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0030766 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0030878 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0032867 RGD:8554872 IAGP RGD:713501375 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0040171 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0045026 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0100009 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0100010 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0100022 PMID:28492532|RGD:8554872 IAGP RGD:597874638 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0100526 RGD:8554872 IAGP RGD:597666860 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313743 SMARCE1 HP:0100543 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0100648 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0100661 ORPHA:2495|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0100790 ORPHA:1465|RGD:8699517 IAGP H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20230821 HPO RGD 1313743 SMARCE1 HP:0410263 RGD:8554872 IAGP RGD:713501375 H SWI/SNF related BAF chromatin remodeling complex subunit E1 gene taxon:9606 20260519 ClinVar RGD 1313749 SPAG6 HP:0002861 RGD:8554872 IAGP RGD:713385093 H sperm associated antigen 6 gene taxon:9606 20260519 ClinVar RGD 1313749 SPAG6 HP:0006770 RGD:8554872 IAGP RGD:713385199 H sperm associated antigen 6 gene taxon:9606 20260519 ClinVar RGD 1313749 SPAG6 HP:0100242 RGD:8554872 IAGP RGD:713385070 H sperm associated antigen 6 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0000006 MIM:616439|MIM:617900|PMID:22851595|PMID:25803835|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0000007 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0000010 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0000100 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0000217 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0000230 PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|RGD:8554872 IAGP RGD:13625067 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0000360 PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|RGD:8554872 IAGP RGD:13625067 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0000360 PMID:25741868|PMID:28492532|PMID:30033073|PMID:31244341|RGD:8554872 IAGP RGD:21075072 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0000508 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0000509 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0000517 PMID:25741868|PMID:28492532|PMID:30033073|PMID:31244341|RGD:8554872 IAGP RGD:21075072 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0000545 PMID:25741868|PMID:28492532|PMID:30033073|PMID:31244341|RGD:8554872 IAGP RGD:21075072 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0000605 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0000708 ORPHA:275872|ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0000712 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0000716 ORPHA:275872|ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0000716 PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|RGD:8554872 IAGP RGD:13625067 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0000722 PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|RGD:8554872 IAGP RGD:13625067 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0000734 MIM:616439|ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0000738 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0000739 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0000739 PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|RGD:8554872 IAGP RGD:13625067 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0000741 MIM:616439|ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0000750 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0000751 MIM:616439|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0000988 PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|PMID:32447396|PMID:33408239|RGD:8554872 IAGP RGD:42724056 H TANK binding kinase 1 gene taxon:9606 20260602 ClinVar RGD 1313752 TBK1 HP:0001250 MIM:617900|MIM:620880|ORPHA:1930|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0001251 PMID:25741868|PMID:28822984|RGD:8554872 IAGP RGD:155268188 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0001254 MIM:617900|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0001256 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20260209 HPO RGD 1313752 TBK1 HP:0001257 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0001259 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0001260 MIM:616439|ORPHA:275872|ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0001262 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0001263 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0001263 PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|PMID:32447396|PMID:33408239|RGD:8554872 IAGP RGD:42724056 H TANK binding kinase 1 gene taxon:9606 20260602 ClinVar RGD 1313752 TBK1 HP:0001265 MIM:616439|ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0001268 MIM:617900|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0001269 MIM:617900|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0001270 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0001283 MIM:616439|ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0001287 MIM:617900|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0001289 MIM:617900|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0001300 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0001308 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240815 HPO RGD 1313752 TBK1 HP:0001324 MIM:616439|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0001337 PMID:25741868|RGD:8554872 IAGP RGD:401856355 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0001347 MIM:616439|ORPHA:1930|ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0001348 PMID:25741868|RGD:8554872 IAGP RGD:401856355 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0001369 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0001382 PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|RGD:8554872 IAGP RGD:13625067 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0001402 RGD:8554872 IAGP RGD:714158248 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0001510 PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|PMID:32447396|PMID:33408239|RGD:8554872 IAGP RGD:42724056 H TANK binding kinase 1 gene taxon:9606 20260602 ClinVar RGD 1313752 TBK1 HP:0001618 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240815 HPO RGD 1313752 TBK1 HP:0001824 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240815 HPO RGD 1313752 TBK1 HP:0001894 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0001935 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0001945 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0001954 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0001954 PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|PMID:32447396|PMID:33408239|RGD:8554872 IAGP RGD:42724056 H TANK binding kinase 1 gene taxon:9606 20260602 ClinVar RGD 1313752 TBK1 HP:0001974 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002015 MIM:616439|ORPHA:275872|ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:401931277 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0002017 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002027 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0002031 PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|RGD:8554872 IAGP RGD:13625067 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0002071 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002073 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002094 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002119 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0002120 MIM:616439|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002127 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002133 MIM:620880|ORPHA:1930|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0002145 MIM:616439|ORPHA:275872|ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0002167 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002171 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002180 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002180 RGD:8554872 IAGP RGD:14399268 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0002181 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002186 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002191 PMID:25741868|PMID:26581300|PMID:28008748|PMID:28492532|PMID:28822984|PMID:32409511|RGD:8554872 IAGP RGD:12905666 H TANK binding kinase 1 gene taxon:9606 20250708 ClinVar RGD 1313752 TBK1 HP:0002273 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002283 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002300 MIM:616439|ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0002307 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240815 HPO RGD 1313752 TBK1 HP:0002313 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240815 HPO RGD 1313752 TBK1 HP:0002314 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002315 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002321 PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|RGD:8554872 IAGP RGD:13625067 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0002349 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002353 MIM:617900|ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0002360 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240118 HPO RGD 1313752 TBK1 HP:0002366 MIM:616439|ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0002366 PMID:25741868|RGD:8554872 IAGP RGD:401920026 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0002380 MIM:616439|ORPHA:275872|ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0002380 PMID:25741868|RGD:8554872 IAGP RGD:401920026 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0002384 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002385 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002425 PMID:25741868|RGD:8554872 IAGP RGD:401931277 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0002442 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002460 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002463 MIM:616439|ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0002608 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0002633 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0002716 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0002721 MIM:620880|ORPHA:1930|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0002721 PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|RGD:8554872 IAGP RGD:13625067 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0002754 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0002793 PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|RGD:8554872 IAGP RGD:13625067 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0002861 RGD:8554872 IAGP RGD:714067318 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0002861 RGD:8554872 IAGP RGD:714067337 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0002878 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002902 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002922 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0002960 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0003003 PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|RGD:8554872 IAGP RGD:13625067 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0003003 RGD:8554872 IAGP RGD:714067305 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0003202 MIM:616439|ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0003202 PMID:25741868|RGD:8554872 IAGP RGD:408395110 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0003271 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0003324 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0003324 PMID:25741868|RGD:8554872 IAGP RGD:408395110 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0003376 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240815 HPO RGD 1313752 TBK1 HP:0003394 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0003394 PMID:25741868|RGD:8554872 IAGP RGD:408395110 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0003470 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0003484 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240118 HPO RGD 1313752 TBK1 HP:0003487 ORPHA:275872|ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0003581 MIM:616439|PMID:25803835|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0003593 MIM:617900|MIM:620880|PMID:22851595|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0003596 MIM:617900|PMID:26513235|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0003621 MIM:617900|PMID:22851595|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0003676 MIM:616439|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0003690 PMID:25741868|RGD:8554872 IAGP RGD:401856355 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0003693 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240815 HPO RGD 1313752 TBK1 HP:0003698 PMID:25741868|RGD:8554872 IAGP RGD:401856355 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0003700 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0003701 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0003829 MIM:617900|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0004302 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0004322 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0004326 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240118 HPO RGD 1313752 TBK1 HP:0004372 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0004808 RGD:8554872 IAGP RGD:713658117 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0004808 RGD:8554872 IAGP RGD:713658128 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0004887 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0007185 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0007190 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0007340 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240118 HPO RGD 1313752 TBK1 HP:0007354 MIM:616439|ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0007354 PMID:16199547|PMID:25741868|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|PMID:33245169|RGD:8554872 IAGP RGD:14722957 H TANK binding kinase 1 gene taxon:9606 20230214 ClinVar RGD 1313752 TBK1 HP:0007354 PMID:25741868|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28008748|PMID:28492532|RGD:8554872 IAGP RGD:405187016 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0007354 PMID:25741868|PMID:28492532|PMID:30033073|PMID:31244341|RGD:8554872 IAGP RGD:21075072 H TANK binding kinase 1 gene taxon:9606 20231107 ClinVar RGD 1313752 TBK1 HP:0007354 PMID:25741868|RGD:8554872 IAGP RGD:401920026 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0007354 PMID:25741868|RGD:8554872 IAGP RGD:401931277 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0007354 PMID:25741868|RGD:8554872 IAGP RGD:408395110 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0007354 PMID:25741868|RGD:8554872 IAGP RGD:713816453 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0007373 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0007373 PMID:25741868|RGD:8554872 IAGP RGD:408395110 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0008322 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0008619 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0008873 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0008955 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240118 HPO RGD 1313752 TBK1 HP:0009027 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240118 HPO RGD 1313752 TBK1 HP:0009027 PMID:25741868|RGD:8554872 IAGP RGD:401856355 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0010549 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0011099 PMID:25741868|PMID:26581300|PMID:28008748|PMID:28492532|PMID:28822984|PMID:32409511|RGD:8554872 IAGP RGD:12905666 H TANK binding kinase 1 gene taxon:9606 20250708 ClinVar RGD 1313752 TBK1 HP:0011108 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0011110 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0011123 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0011227 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0011473 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0011797 PMID:25741868|PMID:28492532|PMID:30033073|PMID:31244341|RGD:8554872 IAGP RGD:21075072 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0011804 PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|RGD:8554872 IAGP RGD:13625067 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0011804 PMID:25741868|PMID:28492532|PMID:30033073|PMID:31244341|RGD:8554872 IAGP RGD:21075072 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0011897 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0011968 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0011972 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0012108 PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|RGD:8554872 IAGP RGD:13625067 H TANK binding kinase 1 gene taxon:9606 20241112 ClinVar RGD 1313752 TBK1 HP:0012126 PMID:25741868|PMID:28008748|PMID:28492532|RGD:8554872 IAGP RGD:38490989 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0012302 MIM:617900|MIM:620880|PMID:22851595|PMID:26513235|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0012378 ORPHA:1930|ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250416 HPO RGD 1313752 TBK1 HP:0012443 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0012444 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0012473 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240118 HPO RGD 1313752 TBK1 HP:0012531 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0012764 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240815 HPO RGD 1313752 TBK1 HP:0025143 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0025425 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0025722 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0030192 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0030195 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0030196 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0030223 ORPHA:275872|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0030237 PMID:25741868|RGD:8554872 IAGP RGD:401920026 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0030878 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240815 HPO RGD 1313752 TBK1 HP:0030955 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0031179 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:0031993 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240815 HPO RGD 1313752 TBK1 HP:0033683 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240118 HPO RGD 1313752 TBK1 HP:0034786 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0100242 PMID:25741868|RGD:8554872 IAGP RGD:150499838 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0100522 RGD:8554872 IAGP RGD:14732870 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0100522 RGD:8554872 IAGP RGD:713655893 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0100526 PMID:25741868|RGD:8554872 IAGP RGD:150499838 H TANK binding kinase 1 gene taxon:9606 20260519 ClinVar RGD 1313752 TBK1 HP:0100543 ORPHA:803|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20240118 HPO RGD 1313752 TBK1 HP:0200029 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313752 TBK1 HP:0200149 ORPHA:1930|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20230821 HPO RGD 1313752 TBK1 HP:4000054 MIM:620880|PMID:34363755|RGD:8699517 IAGP H TANK binding kinase 1 gene taxon:9606 20250912 HPO RGD 1313754 NDUFAB1 HP:0004808 RGD:8554872 IAGP RGD:713629516 H NADH:ubiquinone oxidoreductase subunit AB1 gene taxon:9606 20260519 ClinVar RGD 1313754 NDUFAB1 HP:0004808 RGD:8554872 IAGP RGD:713629563 H NADH:ubiquinone oxidoreductase subunit AB1 gene taxon:9606 20260519 ClinVar RGD 1313754 NDUFAB1 HP:0007716 RGD:8554872 IAGP RGD:713629563 H NADH:ubiquinone oxidoreductase subunit AB1 gene taxon:9606 20260519 ClinVar RGD 1313754 NDUFAB1 HP:0012126 RGD:8554872 IAGP RGD:713629563 H NADH:ubiquinone oxidoreductase subunit AB1 gene taxon:9606 20260519 ClinVar RGD 1313754 NDUFAB1 HP:0012126 RGD:8554872 IAGP RGD:713961859 H NADH:ubiquinone oxidoreductase subunit AB1 gene taxon:9606 20260519 ClinVar RGD 1313754 NDUFAB1 HP:0100242 RGD:8554872 IAGP RGD:713629563 H NADH:ubiquinone oxidoreductase subunit AB1 gene taxon:9606 20260519 ClinVar RGD 1313754 NDUFAB1 HP:0100522 RGD:8554872 IAGP RGD:713629563 H NADH:ubiquinone oxidoreductase subunit AB1 gene taxon:9606 20260519 ClinVar RGD 1313754 NDUFAB1 HP:0100526 RGD:8554872 IAGP RGD:713629563 H NADH:ubiquinone oxidoreductase subunit AB1 gene taxon:9606 20260519 ClinVar RGD 1313756 MYL6 HP:0002861 RGD:8554872 IAGP RGD:714059820 H myosin light chain 6 gene taxon:9606 20260519 ClinVar RGD 1313756 MYL6 HP:0006770 RGD:8554872 IAGP RGD:714059855 H myosin light chain 6 gene taxon:9606 20260519 ClinVar RGD 1313756 MYL6 HP:0006770 RGD:8554872 IAGP RGD:714059881 H myosin light chain 6 gene taxon:9606 20260519 ClinVar RGD 1313756 MYL6 HP:0012126 RGD:8554872 IAGP RGD:713794712 H myosin light chain 6 gene taxon:9606 20260519 ClinVar RGD 1313756 MYL6 HP:0030359 RGD:8554872 IAGP RGD:713351957 H myosin light chain 6 gene taxon:9606 20260519 ClinVar RGD 1313756 MYL6 HP:0030359 RGD:8554872 IAGP RGD:713819728 H myosin light chain 6 gene taxon:9606 20260519 ClinVar RGD 1313756 MYL6 HP:0100242 RGD:8554872 IAGP RGD:714059827 H myosin light chain 6 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0001402 RGD:8554872 IAGP RGD:714087874 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0001402 RGD:8554872 IAGP RGD:714087882 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0001402 RGD:8554872 IAGP RGD:714087896 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0001402 RGD:8554872 IAGP RGD:714087903 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0001402 RGD:8554872 IAGP RGD:714157071 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0002665 RGD:8554872 IAGP RGD:714254857 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0002861 RGD:8554872 IAGP RGD:713552755 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0004808 RGD:8554872 IAGP RGD:713506814 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0004808 RGD:8554872 IAGP RGD:713512171 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0004808 RGD:8554872 IAGP RGD:714254857 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0004808 RGD:8554872 IAGP RGD:714256812 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0006770 RGD:8554872 IAGP RGD:713552776 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0006770 RGD:8554872 IAGP RGD:713552791 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0006770 RGD:8554872 IAGP RGD:713552809 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0006770 RGD:8554872 IAGP RGD:713552884 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0006770 RGD:8554872 IAGP RGD:713552973 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0006770 RGD:8554872 IAGP RGD:713553173 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0006770 RGD:8554872 IAGP RGD:714254857 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0011797 RGD:8554872 IAGP RGD:714256791 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0012126 RGD:8554872 IAGP RGD:713719591 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0030153 RGD:8554872 IAGP RGD:714254857 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0100242 RGD:8554872 IAGP RGD:713512191 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0100522 RGD:8554872 IAGP RGD:713553083 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0100522 RGD:8554872 IAGP RGD:713719555 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0100522 RGD:8554872 IAGP RGD:714254857 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0100526 RGD:8554872 IAGP RGD:714254857 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313758 USP20 HP:0100615 RGD:8554872 IAGP RGD:714254857 H ubiquitin specific peptidase 20 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0000007 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0000085 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0000252 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0000256 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0000280 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0000365 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0000486 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0000508 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0000577 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0000639 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0000646 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0000648 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0000648 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0000657 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0001249 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0001250 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0001252 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0001257 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0001257 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0001263 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0001266 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0001272 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0001288 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0001332 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0001337 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0001344 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0001344 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0001347 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0001371 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0001522 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0001761 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0001771 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0002015 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0002019 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0002020 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0002121 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0002151 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0002167 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0002169 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0002194 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0002376 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0002490 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0002540 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0002751 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0003128 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0003593 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0003623 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0003676 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0006466 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0010535 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0010857 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0011968 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0012393 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313761 MRPS34 HP:0012707 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0034392 MIM:617664|PMID:28777931|RGD:8699517 IAGP H mitochondrial ribosomal protein S34 gene taxon:9606 20250912 HPO RGD 1313761 MRPS34 HP:0100702 PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969|RGD:8554872 IAGP RGD:13435390 H mitochondrial ribosomal protein S34 gene taxon:9606 20260519 ClinVar RGD 1313763 PALMD HP:0001402 RGD:8554872 IAGP RGD:714263901 H palmdelphin gene taxon:9606 20260519 ClinVar RGD 1313763 PALMD HP:0012126 RGD:8554872 IAGP RGD:713933181 H palmdelphin gene taxon:9606 20260519 ClinVar RGD 1313766 TAF11 HP:0002861 RGD:8554872 IAGP RGD:714084742 H TATA-box binding protein associated factor 11 gene taxon:9606 20260519 ClinVar RGD 1313766 TAF11 HP:0006770 RGD:8554872 IAGP RGD:714084766 H TATA-box binding protein associated factor 11 gene taxon:9606 20260519 ClinVar RGD 1313766 TAF11 HP:0011797 RGD:8554872 IAGP RGD:714158433 H TATA-box binding protein associated factor 11 gene taxon:9606 20260519 ClinVar RGD 1313770 CTDSP1 HP:0001402 RGD:8554872 IAGP RGD:714263210 H CTD small phosphatase 1 gene taxon:9606 20260519 ClinVar RGD 1313770 CTDSP1 HP:0006770 RGD:8554872 IAGP RGD:713821390 H CTD small phosphatase 1 gene taxon:9606 20260519 ClinVar RGD 1313770 CTDSP1 HP:0012126 RGD:8554872 IAGP RGD:713508339 H CTD small phosphatase 1 gene taxon:9606 20260519 ClinVar RGD 1313770 CTDSP1 HP:0012126 RGD:8554872 IAGP RGD:713508366 H CTD small phosphatase 1 gene taxon:9606 20260519 ClinVar RGD 1313770 CTDSP1 HP:0100242 RGD:8554872 IAGP RGD:713821344 H CTD small phosphatase 1 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0000006 MIM:133190|MIM:600110|PMID:11138005|PMID:24566826|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20260209 HPO RGD 1313772 ELOVL4 HP:0000007 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20260209 HPO RGD 1313772 ELOVL4 HP:0000023 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0000230 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0000252 MIM:614457|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0000324 ORPHA:1955|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0000479 PMID:28492532|RGD:8554872 IAGP RGD:150458098 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0000486 ORPHA:1955|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0000493 ORPHA:827|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0000505 MIM:600110|PMID:11138005|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0000518 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0000551 ORPHA:827|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156387660 H ELOVL fatty acid elongase 4 gene taxon:9606 20250107 ClinVar RGD 1313772 ELOVL4 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8690952 H ELOVL fatty acid elongase 4 gene taxon:9606 20250107 ClinVar RGD 1313772 ELOVL4 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596940056 H ELOVL fatty acid elongase 4 gene taxon:9606 20250107 ClinVar RGD 1313772 ELOVL4 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596945548 H ELOVL fatty acid elongase 4 gene taxon:9606 20250107 ClinVar RGD 1313772 ELOVL4 HP:0000556 RGD:8554872 IAGP RGD:9692910 H ELOVL fatty acid elongase 4 gene taxon:9606 20260616 ClinVar RGD 1313772 ELOVL4 HP:0000571 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0000603 ORPHA:827|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0000605 MIM:133190|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0000608 ORPHA:827|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0000610 ORPHA:827|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0000613 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0000639 MIM:133190|ORPHA:1955|PMID:24566826|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0000639 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0000649 MIM:614457|ORPHA:827|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250416 HPO RGD 1313772 ELOVL4 HP:0000651 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0000662 ORPHA:827|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20260209 HPO RGD 1313772 ELOVL4 HP:0000958 MIM:614457|ORPHA:1955|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0000958 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0000962 MIM:133190|MIM:614457|PMID:24566826|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0000966 ORPHA:1955|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0000966 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0001019 MIM:133190|PMID:24566826|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0001025 ORPHA:1955|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0001250 MIM:614457|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0001251 MIM:133190|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0001251 PMID:25741868|PMID:28492532|PMID:30065956|PMID:30982505|PMID:31105016|PMID:31616255|PMID:32780351|PMID:33556440|PMID:34234304|PMID:34623043|RGD:8554872 IAGP RGD:13706397 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0001257 MIM:133190|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0001260 MIM:133190|ORPHA:1955|PMID:24566826|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0001260 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0001263 MIM:614457|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0001265 MIM:133190|ORPHA:1955|PMID:24566826|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0001272 MIM:133190|PMID:24566826|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0001272 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0001288 ORPHA:1955|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0001288 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0001310 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0001347 MIM:133190|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0001347 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0001510 MIM:614457|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0001873 RGD:8554872 IAGP RGD:13211711 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0002066 MIM:133190|PMID:24566826|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0002066 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0002070 MIM:133190|PMID:24566826|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0002073 ORPHA:1955|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0002073 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0002075 MIM:133190|ORPHA:1955|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250416 HPO RGD 1313772 ELOVL4 HP:0002080 MIM:133190|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0002080 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0002099 MIM:614457|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0002120 MIM:133190|PMID:24566826|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0002123 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0002167 ORPHA:1955|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0002187 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20260209 HPO RGD 1313772 ELOVL4 HP:0002188 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0002380 MIM:133190|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0002495 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0002497 PMID:25741868|RGD:8554872 IAGP RGD:150447698 H ELOVL fatty acid elongase 4 gene taxon:9606 20211012 ClinVar RGD 1313772 ELOVL4 HP:0002509 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0002510 MIM:614457|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0002861 RGD:8554872 IAGP RGD:713479512 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0002977 MIM:614457|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0003011 ORPHA:1955|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0003473 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0003477 MIM:133190|PMID:24566826|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0003577 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0003584 MIM:133190|PMID:24566826|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0003596 MIM:133190|PMID:24566826|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0003819 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0003829 MIM:133190|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0007112 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0007256 MIM:133190|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0007401 MIM:600110|PMID:11138005|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0007431 RGD:8554872 IAGP RGD:13211711 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0007479 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0007663 MIM:600110|ORPHA:827|PMID:11138005|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20260209 HPO RGD 1313772 ELOVL4 HP:0007704 ORPHA:827|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0007722 ORPHA:827|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0007754 MIM:600110|PMID:11138005|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0007772 MIM:133190|PMID:24566826|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0007772 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0007814 ORPHA:827|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0007979 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0008002 ORPHA:827|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0008059 ORPHA:827|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0008064 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0010545 RGD:8554872 IAGP RGD:401830229 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0010783 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0011003 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0011462 MIM:133190|PMID:24566826|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20260209 HPO RGD 1313772 ELOVL4 HP:0011507 MIM:600110|PMID:11138005|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0012444 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0012733 ORPHA:1955|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0012736 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0030329 ORPHA:827|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0030500 ORPHA:827|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0030786 ORPHA:827|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20240118 HPO RGD 1313772 ELOVL4 HP:0034392 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0040189 MIM:614457|PMID:22100072|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20250912 HPO RGD 1313772 ELOVL4 HP:0100022 ORPHA:1955|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313772 ELOVL4 HP:0100806 RGD:8554872 IAGP RGD:13211711 H ELOVL fatty acid elongase 4 gene taxon:9606 20260519 ClinVar RGD 1313772 ELOVL4 HP:0200034 ORPHA:1955|RGD:8699517 IAGP H ELOVL fatty acid elongase 4 gene taxon:9606 20230821 HPO RGD 1313775 ASH2L HP:0001263 PMID:26539891|RGD:8554872 IAGP RGD:12858941 H ASH2 like, histone lysine methyltransferase complex subunit gene taxon:9606 20210323 ClinVar RGD 1313775 ASH2L HP:0001402 RGD:8554872 IAGP RGD:713770287 H ASH2 like, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313775 ASH2L HP:0004808 RGD:8554872 IAGP RGD:713494208 H ASH2 like, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313775 ASH2L HP:0012126 RGD:8554872 IAGP RGD:713675176 H ASH2 like, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313775 ASH2L HP:0012126 RGD:8554872 IAGP RGD:713675197 H ASH2 like, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313775 ASH2L HP:0012126 RGD:8554872 IAGP RGD:713675215 H ASH2 like, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313775 ASH2L HP:0030359 RGD:8554872 IAGP RGD:714050208 H ASH2 like, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313775 ASH2L HP:0100242 RGD:8554872 IAGP RGD:714050109 H ASH2 like, histone lysine methyltransferase complex subunit gene taxon:9606 20260519 ClinVar RGD 1313777 RRP1B HP:0001402 RGD:8554872 IAGP RGD:713735700 H ribosomal RNA processing 1B gene taxon:9606 20260519 ClinVar RGD 1313777 RRP1B HP:0003003 RGD:8554872 IAGP RGD:713869600 H ribosomal RNA processing 1B gene taxon:9606 20260519 ClinVar RGD 1313777 RRP1B HP:0004808 RGD:8554872 IAGP RGD:713967705 H ribosomal RNA processing 1B gene taxon:9606 20260519 ClinVar RGD 1313777 RRP1B HP:0004808 RGD:8554872 IAGP RGD:713967719 H ribosomal RNA processing 1B gene taxon:9606 20260519 ClinVar RGD 1313777 RRP1B HP:0030153 RGD:8554872 IAGP RGD:713967705 H ribosomal RNA processing 1B gene taxon:9606 20260519 ClinVar RGD 1313777 RRP1B HP:0100242 RGD:8554872 IAGP RGD:713967719 H ribosomal RNA processing 1B gene taxon:9606 20260519 ClinVar RGD 1313777 RRP1B HP:0100522 RGD:8554872 IAGP RGD:713869636 H ribosomal RNA processing 1B gene taxon:9606 20260519 ClinVar RGD 1313777 RRP1B HP:0100522 RGD:8554872 IAGP RGD:713869711 H ribosomal RNA processing 1B gene taxon:9606 20260519 ClinVar RGD 1313777 RRP1B HP:0100522 RGD:8554872 IAGP RGD:713967719 H ribosomal RNA processing 1B gene taxon:9606 20260519 ClinVar RGD 1313777 RRP1B HP:0100526 RGD:8554872 IAGP RGD:713784679 H ribosomal RNA processing 1B gene taxon:9606 20260707 ClinVar RGD 1313777 RRP1B HP:0100526 RGD:8554872 IAGP RGD:713869658 H ribosomal RNA processing 1B gene taxon:9606 20260519 ClinVar RGD 1313777 RRP1B HP:0100526 RGD:8554872 IAGP RGD:713967719 H ribosomal RNA processing 1B gene taxon:9606 20260519 ClinVar RGD 1313779 DDX27 HP:0001402 RGD:8554872 IAGP RGD:713369661 H DEAD-box helicase 27 gene taxon:9606 20260519 ClinVar RGD 1313779 DDX27 HP:0002861 RGD:8554872 IAGP RGD:713969818 H DEAD-box helicase 27 gene taxon:9606 20260519 ClinVar RGD 1313779 DDX27 HP:0002861 RGD:8554872 IAGP RGD:713969874 H DEAD-box helicase 27 gene taxon:9606 20260519 ClinVar RGD 1313779 DDX27 HP:0002861 RGD:8554872 IAGP RGD:713969906 H DEAD-box helicase 27 gene taxon:9606 20260519 ClinVar RGD 1313779 DDX27 HP:0004808 RGD:8554872 IAGP RGD:713963163 H DEAD-box helicase 27 gene taxon:9606 20260519 ClinVar RGD 1313779 DDX27 HP:0004808 RGD:8554872 IAGP RGD:713966304 H DEAD-box helicase 27 gene taxon:9606 20260519 ClinVar RGD 1313779 DDX27 HP:0011797 RGD:8554872 IAGP RGD:713964611 H DEAD-box helicase 27 gene taxon:9606 20260519 ClinVar RGD 1313779 DDX27 HP:0012126 RGD:8554872 IAGP RGD:713779250 H DEAD-box helicase 27 gene taxon:9606 20260519 ClinVar RGD 1313779 DDX27 HP:0012126 RGD:8554872 IAGP RGD:713779264 H DEAD-box helicase 27 gene taxon:9606 20260519 ClinVar RGD 1313779 DDX27 HP:0100522 RGD:8554872 IAGP RGD:713779296 H DEAD-box helicase 27 gene taxon:9606 20260519 ClinVar RGD 1313779 DDX27 HP:0100522 RGD:8554872 IAGP RGD:713966304 H DEAD-box helicase 27 gene taxon:9606 20260519 ClinVar RGD 1313779 DDX27 HP:0100522 RGD:8554872 IAGP RGD:713968694 H DEAD-box helicase 27 gene taxon:9606 20260519 ClinVar RGD 1313779 DDX27 HP:0100522 RGD:8554872 IAGP RGD:713969934 H DEAD-box helicase 27 gene taxon:9606 20260519 ClinVar RGD 1313779 DDX27 HP:0100526 RGD:8554872 IAGP RGD:713969898 H DEAD-box helicase 27 gene taxon:9606 20260519 ClinVar RGD 1313779 DDX27 HP:0100526 RGD:8554872 IAGP RGD:713969912 H DEAD-box helicase 27 gene taxon:9606 20260519 ClinVar RGD 1313781 IL1F10 HP:0012126 RGD:8554872 IAGP RGD:713667743 H interleukin 1 family member 10 gene taxon:9606 20260519 ClinVar RGD 1313783 ZNF410 HP:0001402 RGD:8554872 IAGP RGD:714158708 H zinc finger protein 410 gene taxon:9606 20260519 ClinVar RGD 1313783 ZNF410 HP:0002861 RGD:8554872 IAGP RGD:713539320 H zinc finger protein 410 gene taxon:9606 20260519 ClinVar RGD 1313783 ZNF410 HP:0006770 RGD:8554872 IAGP RGD:713539221 H zinc finger protein 410 gene taxon:9606 20260519 ClinVar RGD 1313783 ZNF410 HP:0006770 RGD:8554872 IAGP RGD:713539232 H zinc finger protein 410 gene taxon:9606 20260519 ClinVar RGD 1313783 ZNF410 HP:0006770 RGD:8554872 IAGP RGD:713539308 H zinc finger protein 410 gene taxon:9606 20260519 ClinVar RGD 1313783 ZNF410 HP:0012126 RGD:8554872 IAGP RGD:713956511 H zinc finger protein 410 gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0000007 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0000479 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0000648 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0000726 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0000938 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0001063 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20240118 HPO RGD 1313785 STN1 HP:0001249 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0001250 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0001251 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0001257 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0001263 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0001328 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0001332 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0001395 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0001409 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0001510 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0001511 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0001626 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0001876 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0002020 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20230821 HPO RGD 1313785 STN1 HP:0002040 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0002059 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0002072 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0002110 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20230821 HPO RGD 1313785 STN1 HP:0002135 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0002206 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20230821 HPO RGD 1313785 STN1 HP:0002216 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0002239 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0002376 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0002514 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0002783 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0002875 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20230821 HPO RGD 1313785 STN1 HP:0003546 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20240118 HPO RGD 1313785 STN1 HP:0003621 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0004808 RGD:8554872 IAGP RGD:713777127 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0004808 RGD:8554872 IAGP RGD:713777139 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0005528 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0005671 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0006530 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20230821 HPO RGD 1313785 STN1 HP:0007229 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0007346 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0007352 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0007763 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0010444 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20230821 HPO RGD 1313785 STN1 HP:0011463 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0012126 RGD:8554872 IAGP RGD:713733359 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0012378 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20240118 HPO RGD 1313785 STN1 HP:0012735 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20230821 HPO RGD 1313785 STN1 HP:0025175 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20230821 HPO RGD 1313785 STN1 HP:0025179 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20230821 HPO RGD 1313785 STN1 HP:0025390 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20230821 HPO RGD 1313785 STN1 HP:0030830 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20230821 HPO RGD 1313785 STN1 HP:0031545 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0031631 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20240118 HPO RGD 1313785 STN1 HP:0031950 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20240118 HPO RGD 1313785 STN1 HP:0032341 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20240118 HPO RGD 1313785 STN1 HP:0033044 MIM:617341|PMID:27432940|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20250912 HPO RGD 1313785 STN1 HP:0033367 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20240118 HPO RGD 1313785 STN1 HP:0045051 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20240118 HPO RGD 1313785 STN1 HP:0100522 RGD:8554872 IAGP RGD:713786197 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0100704 RGD:8554872 IAGP RGD:714063151 H STN1 subunit of CST complex gene taxon:9606 20260519 ClinVar RGD 1313785 STN1 HP:0100759 ORPHA:2032|RGD:8699517 IAGP H STN1 subunit of CST complex gene taxon:9606 20230821 HPO RGD 1313790 ADPRHL1 HP:0001402 RGD:8554872 IAGP RGD:714158324 H ADP-ribosylhydrolase like 1 gene taxon:9606 20260519 ClinVar RGD 1313790 ADPRHL1 HP:0100242 RGD:8554872 IAGP RGD:713659471 H ADP-ribosylhydrolase like 1 gene taxon:9606 20260519 ClinVar RGD 1313790 ADPRHL1 HP:0100242 RGD:8554872 IAGP RGD:713659480 H ADP-ribosylhydrolase like 1 gene taxon:9606 20260519 ClinVar RGD 1313790 ADPRHL1 HP:0100522 RGD:8554872 IAGP RGD:713855668 H ADP-ribosylhydrolase like 1 gene taxon:9606 20260519 ClinVar RGD 1313790 ADPRHL1 HP:0100522 RGD:8554872 IAGP RGD:713855721 H ADP-ribosylhydrolase like 1 gene taxon:9606 20260519 ClinVar RGD 1313791 ORMDL2 HP:0006770 RGD:8554872 IAGP RGD:714058492 H ORMDL sphingolipid biosynthesis regulator 2 gene taxon:9606 20260519 ClinVar RGD 1313791 ORMDL2 HP:0006770 RGD:8554872 IAGP RGD:714058501 H ORMDL sphingolipid biosynthesis regulator 2 gene taxon:9606 20260519 ClinVar RGD 1313793 CTNND1 HP:0000006 MIM:617681|PMID:28301459|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20260209 HPO RGD 1313793 CTNND1 HP:0000316 MIM:617681|ORPHA:1997|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20250416 HPO RGD 1313793 CTNND1 HP:0000324 MIM:617681|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20230821 HPO RGD 1313793 CTNND1 HP:0000348 MIM:617681|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20230821 HPO RGD 1313793 CTNND1 HP:0000405 ORPHA:1997|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20230821 HPO RGD 1313793 CTNND1 HP:0000478 ORPHA:1997|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20230821 HPO RGD 1313793 CTNND1 HP:0000492 ORPHA:1997|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20230821 HPO RGD 1313793 CTNND1 HP:0000504 ORPHA:1997|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20230821 HPO RGD 1313793 CTNND1 HP:0000670 ORPHA:1997|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20230821 HPO RGD 1313793 CTNND1 HP:0000698 MIM:617681|ORPHA:1997|PMID:28301459|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20250912 HPO RGD 1313793 CTNND1 HP:0002023 ORPHA:1997|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20230821 HPO RGD 1313793 CTNND1 HP:0002164 MIM:617681|PMID:28301459|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20250912 HPO RGD 1313793 CTNND1 HP:0006101 ORPHA:1997|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20230821 HPO RGD 1313793 CTNND1 HP:0007651 MIM:617681|ORPHA:1997|PMID:28301459|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20250912 HPO RGD 1313793 CTNND1 HP:0009743 MIM:617681|ORPHA:1997|PMID:28301459|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20250912 HPO RGD 1313793 CTNND1 HP:0009804 MIM:617681|PMID:28301459|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20250912 HPO RGD 1313793 CTNND1 HP:0011362 ORPHA:1997|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20230821 HPO RGD 1313793 CTNND1 HP:0012368 MIM:617681|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20230821 HPO RGD 1313793 CTNND1 HP:0012725 MIM:617681|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20230821 HPO RGD 1313793 CTNND1 HP:0012905 MIM:617681|ORPHA:1997|PMID:28301459|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20250912 HPO RGD 1313793 CTNND1 HP:0030001 MIM:617681|PMID:28301459|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20250912 HPO RGD 1313793 CTNND1 HP:0200040 ORPHA:1997|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20230821 HPO RGD 1313793 CTNND1 HP:0410030 MIM:617681|PMID:28301459|RGD:8699517 IAGP H catenin delta 1 gene taxon:9606 20250912 HPO RGD 1313797 CHIT1 HP:0000007 MIM:614122|RGD:8699517 IAGP H chitinase 1 gene taxon:9606 20260209 HPO RGD 1313797 CHIT1 HP:0000365 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0000479 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0000496 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0000540 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0000545 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0000707 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0000722 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0000739 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0000975 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0001075 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0001276 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0001290 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0001382 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0001469 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0001622 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0001928 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0002093 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0002719 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0002793 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0002960 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0003011 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0003110 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0010674 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0011443 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0011675 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0011804 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0030680 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0100022 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313797 CHIT1 HP:0100526 RGD:8554872 IAGP RGD:713462330 H chitinase 1 gene taxon:9606 20260519 ClinVar RGD 1313797 CHIT1 HP:0100526 RGD:8554872 IAGP RGD:713462487 H chitinase 1 gene taxon:9606 20260519 ClinVar RGD 1313797 CHIT1 HP:0100526 RGD:8554872 IAGP RGD:713502199 H chitinase 1 gene taxon:9606 20260519 ClinVar RGD 1313797 CHIT1 HP:0100543 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11635605 H chitinase 1 gene taxon:9606 20260602 ClinVar RGD 1313800 FBXO7 HP:0000007 MIM:260300|PMID:18513678|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0000011 ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0000338 MIM:260300|ORPHA:171695|PMID:18513678|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0000514 MIM:260300|ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250416 HPO RGD 1313800 FBXO7 HP:0000726 ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0001249 MIM:260300|PMID:25085748|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0001257 ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0001260 MIM:260300|PMID:25085748|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0001300 MIM:260300|ORPHA:171695|PMID:18513678|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0001332 MIM:260300|ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250416 HPO RGD 1313800 FBXO7 HP:0001336 ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0001337 PMID:25741868|RGD:8554872 IAGP RGD:401855291 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0001347 MIM:260300|ORPHA:171695|PMID:18513678|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0001402 RGD:8554872 IAGP RGD:713372832 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0001402 RGD:8554872 IAGP RGD:713372860 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0001762 MIM:260300|ORPHA:171695|PMID:18513678|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0002015 ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:401855291 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0002061 MIM:260300|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0002063 MIM:260300|ORPHA:171695|PMID:18513678|PMID:25085748|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0002067 MIM:260300|ORPHA:171695|PMID:18513678|PMID:25085748|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0002067 PMID:25741868|RGD:8554872 IAGP RGD:401855291 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0002071 MIM:260300|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0002078 PMID:25741868|RGD:8554872 IAGP RGD:401855291 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0002080 ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0002141 MIM:260300|PMID:25085748|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0002172 MIM:260300|ORPHA:171695|PMID:25085748|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0002322 MIM:260300|PMID:25085748|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0002322 PMID:25741868|RGD:8554872 IAGP RGD:401855291 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0002359 PMID:25741868|RGD:8554872 IAGP RGD:401855291 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0002360 ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0002362 ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0002367 ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0002548 MIM:260300|PMID:18513678|PMID:25085748|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0002861 RGD:8554872 IAGP RGD:713743748 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0002861 RGD:8554872 IAGP RGD:713743777 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0002861 RGD:8554872 IAGP RGD:713743885 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0003487 MIM:260300|ORPHA:171695|PMID:25085748|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0003552 PMID:25741868|RGD:8554872 IAGP RGD:401855291 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0003621 MIM:260300|PMID:25085748|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0003677 MIM:260300|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0003698 PMID:25741868|RGD:8554872 IAGP RGD:401855291 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0004808 RGD:8554872 IAGP RGD:714193043 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0006725 RGD:8554872 IAGP RGD:713743690 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0007256 ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0011463 MIM:260300|PMID:18513678|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0011797 RGD:8554872 IAGP RGD:714192184 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0011797 RGD:8554872 IAGP RGD:714197374 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0011960 ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0012332 ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0012407 MIM:260300|PMID:18513678|PMID:25085748|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0012443 PMID:25741868|RGD:8554872 IAGP RGD:401855291 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0012444 PMID:25741868|RGD:8554872 IAGP RGD:401855291 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0030153 RGD:8554872 IAGP RGD:714197381 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0031364 PMID:25741868|RGD:8554872 IAGP RGD:401855291 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0031435 MIM:260300|ORPHA:171695|PMID:18513678|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20250912 HPO RGD 1313800 FBXO7 HP:0100242 RGD:8554872 IAGP RGD:713743927 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0100242 RGD:8554872 IAGP RGD:713744036 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0100315 ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313800 FBXO7 HP:0100522 RGD:8554872 IAGP RGD:713743627 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0100522 RGD:8554872 IAGP RGD:713743795 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0100526 RGD:8554872 IAGP RGD:713743944 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0100526 RGD:8554872 IAGP RGD:713743999 H F-box protein 7 gene taxon:9606 20260519 ClinVar RGD 1313800 FBXO7 HP:0100543 ORPHA:171695|RGD:8699517 IAGP H F-box protein 7 gene taxon:9606 20230821 HPO RGD 1313803 MGAT4A HP:0001402 RGD:8554872 IAGP RGD:713747664 H alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene taxon:9606 20260519 ClinVar RGD 1313803 MGAT4A HP:0002861 RGD:8554872 IAGP RGD:714186944 H alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene taxon:9606 20260519 ClinVar RGD 1313803 MGAT4A HP:0002861 RGD:8554872 IAGP RGD:714186955 H alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene taxon:9606 20260519 ClinVar RGD 1313803 MGAT4A HP:0004808 RGD:8554872 IAGP RGD:714042816 H alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene taxon:9606 20260519 ClinVar RGD 1313803 MGAT4A HP:0004808 RGD:8554872 IAGP RGD:714042826 H alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene taxon:9606 20260519 ClinVar RGD 1313803 MGAT4A HP:0004808 RGD:8554872 IAGP RGD:714042836 H alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene taxon:9606 20260519 ClinVar RGD 1313803 MGAT4A HP:0011797 RGD:8554872 IAGP RGD:714050573 H alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene taxon:9606 20260519 ClinVar RGD 1313803 MGAT4A HP:0012126 RGD:8554872 IAGP RGD:713524462 H alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene taxon:9606 20260519 ClinVar RGD 1313803 MGAT4A HP:0012126 RGD:8554872 IAGP RGD:713524474 H alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene taxon:9606 20260519 ClinVar RGD 1313806 MKX HP:0004808 RGD:8554872 IAGP RGD:713785455 H mohawk homeobox gene taxon:9606 20260519 ClinVar RGD 1313806 MKX HP:0006770 RGD:8554872 IAGP RGD:713390412 H mohawk homeobox gene taxon:9606 20260519 ClinVar RGD 1313806 MKX HP:0100242 RGD:8554872 IAGP RGD:713390368 H mohawk homeobox gene taxon:9606 20260519 ClinVar RGD 1313812 IGFBPL1 HP:0100242 RGD:8554872 IAGP RGD:713760639 H insulin like growth factor binding protein like 1 gene taxon:9606 20260519 ClinVar RGD 1313812 IGFBPL1 HP:0100242 RGD:8554872 IAGP RGD:713760651 H insulin like growth factor binding protein like 1 gene taxon:9606 20260519 ClinVar RGD 1313814 PPP2R5E HP:0002861 RGD:8554872 IAGP RGD:713533747 H protein phosphatase 2 regulatory subunit B'epsilon gene taxon:9606 20260519 ClinVar RGD 1313814 PPP2R5E HP:0002861 RGD:8554872 IAGP RGD:714216958 H protein phosphatase 2 regulatory subunit B'epsilon gene taxon:9606 20260519 ClinVar RGD 1313814 PPP2R5E HP:0004808 RGD:8554872 IAGP RGD:714163375 H protein phosphatase 2 regulatory subunit B'epsilon gene taxon:9606 20260519 ClinVar RGD 1313814 PPP2R5E HP:0006770 RGD:8554872 IAGP RGD:713533705 H protein phosphatase 2 regulatory subunit B'epsilon gene taxon:9606 20260519 ClinVar RGD 1313814 PPP2R5E HP:0030153 RGD:8554872 IAGP RGD:714216950 H protein phosphatase 2 regulatory subunit B'epsilon gene taxon:9606 20260519 ClinVar RGD 1313814 PPP2R5E HP:0100242 RGD:8554872 IAGP RGD:713533766 H protein phosphatase 2 regulatory subunit B'epsilon gene taxon:9606 20260519 ClinVar RGD 1313814 PPP2R5E HP:0100242 RGD:8554872 IAGP RGD:714163375 H protein phosphatase 2 regulatory subunit B'epsilon gene taxon:9606 20260519 ClinVar RGD 1313814 PPP2R5E HP:0100522 RGD:8554872 IAGP RGD:714163375 H protein phosphatase 2 regulatory subunit B'epsilon gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0000717 RGD:8554872 IAGP RGD:153301042 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0001249 RGD:8554872 IAGP RGD:153301042 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0001402 RGD:8554872 IAGP RGD:713357075 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0001402 RGD:8554872 IAGP RGD:714159420 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0001631 RGD:8554872 IAGP RGD:153301042 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0004808 RGD:8554872 IAGP RGD:713668961 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0004808 RGD:8554872 IAGP RGD:713675493 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0006770 RGD:8554872 IAGP RGD:713665951 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0006770 RGD:8554872 IAGP RGD:713996460 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0007716 RGD:8554872 IAGP RGD:713794896 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0007716 RGD:8554872 IAGP RGD:713794921 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0010773 RGD:8554872 IAGP RGD:153301042 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0012126 RGD:8554872 IAGP RGD:714132246 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0012126 RGD:8554872 IAGP RGD:714132258 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0012126 RGD:8554872 IAGP RGD:714132288 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0030713 RGD:8554872 IAGP RGD:153301042 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0100242 RGD:8554872 IAGP RGD:713671596 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0100522 RGD:8554872 IAGP RGD:713668961 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313816 TAF1C HP:0100526 RGD:8554872 IAGP RGD:713798767 H TATA-box binding protein associated factor, RNA polymerase I subunit C gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0000006 MIM:121850|RGD:8699517 IAGP H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20230821 HPO RGD 1313818 PIKFYVE HP:0000478 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28894159 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0000478 PMID:25741868|RGD:8554872 IAGP RGD:408393978 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0000613 MIM:121850|RGD:8699517 IAGP H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20230821 HPO RGD 1313818 PIKFYVE HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:408394656 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0001402 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11592162 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0001402 PMID:28492532|RGD:8554872 IAGP RGD:28892991 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0001402 RGD:8554872 IAGP RGD:713507199 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0001402 RGD:8554872 IAGP RGD:714263085 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0002665 RGD:8554872 IAGP RGD:713815349 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0002861 RGD:8554872 IAGP RGD:713815739 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0004808 RGD:8554872 IAGP RGD:713783324 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0004808 RGD:8554872 IAGP RGD:713786531 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0006770 RGD:8554872 IAGP RGD:405791028 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0006770 RGD:8554872 IAGP RGD:713815361 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0006770 RGD:8554872 IAGP RGD:713815383 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0006770 RGD:8554872 IAGP RGD:713815582 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0006770 RGD:8554872 IAGP RGD:713815596 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0006770 RGD:8554872 IAGP RGD:713815613 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0006770 RGD:8554872 IAGP RGD:714113605 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0007962 MIM:121850|RGD:8699517 IAGP H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20230821 HPO RGD 1313818 PIKFYVE HP:0011797 RGD:8554872 IAGP RGD:713783316 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0012126 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11592162 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0012126 RGD:8554872 IAGP RGD:713507076 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0012126 RGD:8554872 IAGP RGD:713507140 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0012126 RGD:8554872 IAGP RGD:713507161 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0012126 RGD:8554872 IAGP RGD:713507199 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0030153 RGD:8554872 IAGP RGD:713815776 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0030359 RGD:8554872 IAGP RGD:713815712 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0100242 RGD:8554872 IAGP RGD:713507243 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0100522 RGD:8554872 IAGP RGD:713507117 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0100522 RGD:8554872 IAGP RGD:713507223 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0100522 RGD:8554872 IAGP RGD:713815794 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0100526 RGD:8554872 IAGP RGD:713507223 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0100526 RGD:8554872 IAGP RGD:713815533 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313818 PIKFYVE HP:0100526 RGD:8554872 IAGP RGD:714113597 H phosphoinositide kinase, FYVE-type zinc finger containing gene taxon:9606 20260519 ClinVar RGD 1313822 FBXW5 HP:0004808 RGD:8554872 IAGP RGD:714257271 H F-box and WD repeat domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313822 FBXW5 HP:0006725 RGD:8554872 IAGP RGD:713568788 H F-box and WD repeat domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313822 FBXW5 HP:0006770 RGD:8554872 IAGP RGD:713568788 H F-box and WD repeat domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313822 FBXW5 HP:0012126 RGD:8554872 IAGP RGD:713722341 H F-box and WD repeat domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313822 FBXW5 HP:0012126 RGD:8554872 IAGP RGD:713722353 H F-box and WD repeat domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313822 FBXW5 HP:0012126 RGD:8554872 IAGP RGD:713722372 H F-box and WD repeat domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313822 FBXW5 HP:0012126 RGD:8554872 IAGP RGD:713722386 H F-box and WD repeat domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313822 FBXW5 HP:0012126 RGD:8554872 IAGP RGD:714257262 H F-box and WD repeat domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313822 FBXW5 HP:0030153 RGD:8554872 IAGP RGD:714257271 H F-box and WD repeat domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313822 FBXW5 HP:0100242 RGD:8554872 IAGP RGD:713568788 H F-box and WD repeat domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313822 FBXW5 HP:0100242 RGD:8554872 IAGP RGD:714257271 H F-box and WD repeat domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313822 FBXW5 HP:0100522 RGD:8554872 IAGP RGD:713568824 H F-box and WD repeat domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313822 FBXW5 HP:0100522 RGD:8554872 IAGP RGD:714257271 H F-box and WD repeat domain containing 5 gene taxon:9606 20260519 ClinVar RGD 1313824 ZNF143 HP:0002861 RGD:8554872 IAGP RGD:713428276 H zinc finger protein 143 gene taxon:9606 20260519 ClinVar RGD 1313824 ZNF143 HP:0004808 RGD:8554872 IAGP RGD:714098304 H zinc finger protein 143 gene taxon:9606 20260519 ClinVar RGD 1313824 ZNF143 HP:0006770 RGD:8554872 IAGP RGD:713428322 H zinc finger protein 143 gene taxon:9606 20260519 ClinVar RGD 1313824 ZNF143 HP:0012126 RGD:8554872 IAGP RGD:713985626 H zinc finger protein 143 gene taxon:9606 20260519 ClinVar RGD 1313824 ZNF143 HP:0012126 RGD:8554872 IAGP RGD:714029240 H zinc finger protein 143 gene taxon:9606 20260519 ClinVar RGD 1313824 ZNF143 HP:0030153 RGD:8554872 IAGP RGD:713428191 H zinc finger protein 143 gene taxon:9606 20260519 ClinVar RGD 1313824 ZNF143 HP:0100242 RGD:8554872 IAGP RGD:713428267 H zinc finger protein 143 gene taxon:9606 20260519 ClinVar RGD 1313824 ZNF143 HP:0100242 RGD:8554872 IAGP RGD:713428336 H zinc finger protein 143 gene taxon:9606 20260519 ClinVar RGD 1313824 ZNF143 HP:0100526 RGD:8554872 IAGP RGD:713428205 H zinc finger protein 143 gene taxon:9606 20260519 ClinVar RGD 1313826 RAB40B HP:0002861 RGD:8554872 IAGP RGD:713408110 H RAB40B, member RAS oncogene family gene taxon:9606 20260519 ClinVar RGD 1313826 RAB40B HP:0004808 RGD:8554872 IAGP RGD:713712276 H RAB40B, member RAS oncogene family gene taxon:9606 20260707 ClinVar RGD 1313826 RAB40B HP:0006770 RGD:8554872 IAGP RGD:713408034 H RAB40B, member RAS oncogene family gene taxon:9606 20260519 ClinVar RGD 1313826 RAB40B HP:0012126 RGD:8554872 IAGP RGD:713712276 H RAB40B, member RAS oncogene family gene taxon:9606 20260707 ClinVar RGD 1313826 RAB40B HP:0030153 RGD:8554872 IAGP RGD:713712276 H RAB40B, member RAS oncogene family gene taxon:9606 20260519 ClinVar RGD 1313826 RAB40B HP:0100242 RGD:8554872 IAGP RGD:713712276 H RAB40B, member RAS oncogene family gene taxon:9606 20260707 ClinVar RGD 1313826 RAB40B HP:0100526 RGD:8554872 IAGP RGD:713712276 H RAB40B, member RAS oncogene family gene taxon:9606 20260707 ClinVar RGD 1313830 UNC45B HP:0000006 MIM:616279|MIM:619178|PMID:24549050|PMID:31852522|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0001252 PMID:12356907|PMID:17189627|PMID:17586488|PMID:19348700|PMID:19504455|PMID:19834024|PMID:19854944|PMID:24549050|PMID:25348405|PMID:28492532|PMID:2981587|RGD:8554872 IAGP RGD:13532523 H unc-45 myosin chaperone B gene taxon:9606 20260519 ClinVar RGD 1313830 UNC45B HP:0001402 RGD:8554872 IAGP RGD:713730225 H unc-45 myosin chaperone B gene taxon:9606 20260519 ClinVar RGD 1313830 UNC45B HP:0001558 MIM:619178|PMID:31852522|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0001611 MIM:619178|PMID:31852522|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0001680 MIM:619178|PMID:33217308|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0002015 MIM:619178|PMID:33217308|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0003198 PMID:25741868|PMID:31852522|PMID:33217308|RGD:8554872 IAGP RGD:26912743 H unc-45 myosin chaperone B gene taxon:9606 20231212 ClinVar RGD 1313830 UNC45B HP:0003327 MIM:619178|PMID:33217308|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0003391 MIM:619178|PMID:31852522|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0003458 MIM:619178|PMID:33217308|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0003557 MIM:619178|PMID:31852522|PMID:33217308|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0003577 MIM:619178|PMID:33217308|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0003593 MIM:619178|PMID:33217308|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0003687 MIM:619178|PMID:31852522|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0003700 MIM:619178|PMID:33217308|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0003701 MIM:619178|PMID:33217308|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0003724 MIM:619178|PMID:33217308|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0003803 MIM:619178|PMID:33217308|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0007787 MIM:616279|PMID:24549050|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0008872 MIM:619178|PMID:31852522|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0008981 MIM:619178|PMID:33217308|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0011463 MIM:619178|PMID:33217308|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0012126 RGD:8554872 IAGP RGD:150488448 H unc-45 myosin chaperone B gene taxon:9606 20260519 ClinVar RGD 1313830 UNC45B HP:0012126 RGD:8554872 IAGP RGD:714138334 H unc-45 myosin chaperone B gene taxon:9606 20260519 ClinVar RGD 1313830 UNC45B HP:0012378 MIM:619178|PMID:33217308|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0020203 MIM:619178|PMID:31852522|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0025502 MIM:619178|PMID:31852522|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0032341 MIM:619178|PMID:31852522|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313830 UNC45B HP:0034635 MIM:619178|PMID:33217308|RGD:8699517 IAGP H unc-45 myosin chaperone B gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0000006 MIM:148300|MIM:614195|PMID:11978762|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0000238 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0000316 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0000377 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0000483 MIM:148300|ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250416 HPO RGD 1313832 VSX1 HP:0000501 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0000512 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0000533 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20260209 HPO RGD 1313832 VSX1 HP:0000539 RGD:8657032|PMID:18626569 IAGP H visual system homeobox 1 gene taxon:9606 20180413 RGD RGD 1313832 VSX1 HP:0000543 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0000559 RGD:8657032|PMID:18626569 IAGP H visual system homeobox 1 gene taxon:9606 20180413 RGD RGD 1313832 VSX1 HP:0000563 MIM:148300|PMID:11978762|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0000565 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0000585 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0000613 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0000622 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0000632 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0000646 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0001657 RGD:8554872 IAGP RGD:10398625 H visual system homeobox 1 gene taxon:9606 20260602 ClinVar RGD 1313832 VSX1 HP:0002119 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0002315 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0002321 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0002861 RGD:8554872 IAGP RGD:713700303 H visual system homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313832 VSX1 HP:0003577 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0007291 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0007663 MIM:614195|ORPHA:98973|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0007676 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0007700 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0007906 MIM:614195|ORPHA:98973|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0007915 PMID:11978762|PMID:16303937|PMID:21976959|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11630036 H visual system homeobox 1 gene taxon:9606 20230214 ClinVar RGD 1313832 VSX1 HP:0007915 PMID:11978762|PMID:22171159|RGD:8554872 IAGP RGD:8596746 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 PMID:15623752|PMID:21976959|RGD:8554872 IAGP RGD:8596750 H visual system homeobox 1 gene taxon:9606 20241112 ClinVar RGD 1313832 VSX1 HP:0007915 PMID:16384943|PMID:28492532|RGD:8554872 IAGP RGD:11632198 H visual system homeobox 1 gene taxon:9606 20241112 ClinVar RGD 1313832 VSX1 HP:0007915 PMID:18626569|PMID:28492532|RGD:8554872 IAGP RGD:11628557 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 PMID:23592923|PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:11616012 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 PMID:24033266|PMID:28492532|RGD:8554872 IAGP RGD:8596747 H visual system homeobox 1 gene taxon:9606 20260707 ClinVar RGD 1313832 VSX1 HP:0007915 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11542250 H visual system homeobox 1 gene taxon:9606 20260707 ClinVar RGD 1313832 VSX1 HP:0007915 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11581533 H visual system homeobox 1 gene taxon:9606 20260707 ClinVar RGD 1313832 VSX1 HP:0007915 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11630392 H visual system homeobox 1 gene taxon:9606 20260707 ClinVar RGD 1313832 VSX1 HP:0007915 PMID:26879370|PMID:28492532|RGD:8554872 IAGP RGD:13509999 H visual system homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313832 VSX1 HP:0007915 PMID:28492532|RGD:8554872 IAGP RGD:11626439 H visual system homeobox 1 gene taxon:9606 20241112 ClinVar RGD 1313832 VSX1 HP:0007915 PMID:28492532|RGD:8554872 IAGP RGD:11630892 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 PMID:28492532|RGD:8554872 IAGP RGD:15104057 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 PMID:28492532|RGD:8554872 IAGP RGD:28886420 H visual system homeobox 1 gene taxon:9606 20241112 ClinVar RGD 1313832 VSX1 HP:0007915 PMID:28492532|RGD:8554872 IAGP RGD:28892837 H visual system homeobox 1 gene taxon:9606 20230214 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11617296 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11619754 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11622417 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11625358 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11625686 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11626675 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11626687 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11629529 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11630495 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11631730 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11631841 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11632053 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11635023 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11647599 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11647863 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11650633 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11656793 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11657520 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11659371 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:11662057 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28886039 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28886045 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28886052 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28886413 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28892829 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28892835 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28892840 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28892843 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28894628 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28894917 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28899630 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28899632 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28899635 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28899637 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28899925 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28899928 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28899932 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:28899936 H visual system homeobox 1 gene taxon:9606 20210323 ClinVar RGD 1313832 VSX1 HP:0007915 RGD:8554872 IAGP RGD:8596748 H visual system homeobox 1 gene taxon:9606 20260602 ClinVar RGD 1313832 VSX1 HP:0007957 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0008625 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0009918 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0011462 MIM:148300|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0011483 MIM:614195|ORPHA:98973|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0011483 RGD:8657029|PMID:15051220 IAGP H visual system homeobox 1 gene taxon:9606 20180413 RGD RGD 1313832 VSX1 HP:0011486 RGD:8657032|PMID:18626569 IAGP H visual system homeobox 1 gene taxon:9606 20180413 RGD RGD 1313832 VSX1 HP:0011490 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0011491 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0011492 RGD:8657034|PMID:15623752 IAGP H visual system homeobox 1 gene taxon:9606 20180413 RGD RGD 1313832 VSX1 HP:0011818 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0012040 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0012126 RGD:8554872 IAGP RGD:713774573 H visual system homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313832 VSX1 HP:0012506 MIM:614195|PMID:15051220|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20250912 HPO RGD 1313832 VSX1 HP:0025358 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0032122 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0100522 RGD:8554872 IAGP RGD:11626687 H visual system homeobox 1 gene taxon:9606 20260519 ClinVar RGD 1313832 VSX1 HP:0100692 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0200026 ORPHA:98973|RGD:8699517 IAGP H visual system homeobox 1 gene taxon:9606 20230821 HPO RGD 1313832 VSX1 HP:0200032 RGD:8657032|PMID:18626569 IAGP H visual system homeobox 1 gene taxon:9606 20180413 RGD RGD 1313832 VSX1 HP:0200032 RGD:8657034|PMID:15623752 IAGP H visual system homeobox 1 gene taxon:9606 20180413 RGD RGD 1313834 PAIP1 HP:0001402 RGD:8554872 IAGP RGD:713757210 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0001402 RGD:8554872 IAGP RGD:714076565 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0001402 RGD:8554872 IAGP RGD:714161053 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0002861 RGD:8554872 IAGP RGD:713878356 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0003003 RGD:8554872 IAGP RGD:714118959 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0004808 RGD:8554872 IAGP RGD:714163409 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0004808 RGD:8554872 IAGP RGD:714163414 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0006725 RGD:8554872 IAGP RGD:713878346 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0006770 RGD:8554872 IAGP RGD:713878316 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0012126 RGD:8554872 IAGP RGD:713788625 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0012126 RGD:8554872 IAGP RGD:713788637 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0012126 RGD:8554872 IAGP RGD:713788651 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0012126 RGD:8554872 IAGP RGD:713788673 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0012126 RGD:8554872 IAGP RGD:713788688 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0030153 RGD:8554872 IAGP RGD:714163414 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0100522 RGD:8554872 IAGP RGD:713878254 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0100522 RGD:8554872 IAGP RGD:713878305 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313834 PAIP1 HP:0100522 RGD:8554872 IAGP RGD:714163414 H poly(A) binding protein interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1313837 LMO4 HP:0012126 RGD:8554872 IAGP RGD:713612372 H LIM domain only 4 gene taxon:9606 20260519 ClinVar RGD 1313837 LMO4 HP:0100242 RGD:8554872 IAGP RGD:713729936 H LIM domain only 4 gene taxon:9606 20260519 ClinVar RGD 1313840 SPOCK3 HP:0001402 RGD:8554872 IAGP RGD:714071645 H SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 gene taxon:9606 20260519 ClinVar RGD 1313840 SPOCK3 HP:0004808 RGD:8554872 IAGP RGD:713793892 H SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 gene taxon:9606 20260519 ClinVar RGD 1313840 SPOCK3 HP:0012126 RGD:8554872 IAGP RGD:713769933 H SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 gene taxon:9606 20260519 ClinVar RGD 1313840 SPOCK3 HP:0030359 RGD:8554872 IAGP RGD:714237238 H SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 gene taxon:9606 20260519 ClinVar RGD 1313843 ADGRG3 HP:0004808 RGD:8554872 IAGP RGD:713628929 H adhesion G protein-coupled receptor G3 gene taxon:9606 20260519 ClinVar RGD 1313843 ADGRG3 HP:0100522 RGD:8554872 IAGP RGD:713715592 H adhesion G protein-coupled receptor G3 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0001402 RGD:8554872 IAGP RGD:713352853 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0002861 RGD:8554872 IAGP RGD:713875699 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0004808 RGD:8554872 IAGP RGD:714159741 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0004808 RGD:8554872 IAGP RGD:714159745 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0006770 RGD:8554872 IAGP RGD:713875758 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0006770 RGD:8554872 IAGP RGD:713875897 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0012126 RGD:8554872 IAGP RGD:713803992 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0012126 RGD:8554872 IAGP RGD:713804010 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0012126 RGD:8554872 IAGP RGD:713804031 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260707 ClinVar RGD 1313845 LRCH1 HP:0012126 RGD:8554872 IAGP RGD:713804082 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0030153 RGD:8554872 IAGP RGD:713352853 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0030153 RGD:8554872 IAGP RGD:713804010 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260707 ClinVar RGD 1313845 LRCH1 HP:0030153 RGD:8554872 IAGP RGD:713804031 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0100242 RGD:8554872 IAGP RGD:713804067 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0100242 RGD:8554872 IAGP RGD:713875738 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0100242 RGD:8554872 IAGP RGD:713875849 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0100242 RGD:8554872 IAGP RGD:713876023 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0100526 RGD:8554872 IAGP RGD:713803992 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0100526 RGD:8554872 IAGP RGD:713804051 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0100526 RGD:8554872 IAGP RGD:713875811 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0100526 RGD:8554872 IAGP RGD:713876004 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313845 LRCH1 HP:0100526 RGD:8554872 IAGP RGD:714159734 H leucine rich repeats and calponin homology domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313847 CADM2 HP:0001402 RGD:8554872 IAGP RGD:713772865 H cell adhesion molecule 2 gene taxon:9606 20260519 ClinVar RGD 1313847 CADM2 HP:0004808 RGD:8554872 IAGP RGD:713732879 H cell adhesion molecule 2 gene taxon:9606 20260519 ClinVar RGD 1313847 CADM2 HP:0012126 RGD:8554872 IAGP RGD:713941933 H cell adhesion molecule 2 gene taxon:9606 20260519 ClinVar RGD 1313847 CADM2 HP:0100242 RGD:8554872 IAGP RGD:713397066 H cell adhesion molecule 2 gene taxon:9606 20260519 ClinVar RGD 1313849 ADTRP HP:0012126 RGD:8554872 IAGP RGD:713551072 H androgen dependent TFPI regulating protein gene taxon:9606 20260519 ClinVar RGD 1313849 ADTRP HP:0012126 RGD:8554872 IAGP RGD:714165719 H androgen dependent TFPI regulating protein gene taxon:9606 20260519 ClinVar RGD 1313849 ADTRP HP:0100242 RGD:8554872 IAGP RGD:713512808 H androgen dependent TFPI regulating protein gene taxon:9606 20260519 ClinVar RGD 1313849 ADTRP HP:0100242 RGD:8554872 IAGP RGD:713551072 H androgen dependent TFPI regulating protein gene taxon:9606 20260519 ClinVar RGD 1313849 ADTRP HP:0100522 RGD:8554872 IAGP RGD:713512488 H androgen dependent TFPI regulating protein gene taxon:9606 20260519 ClinVar RGD 1313851 BICRAL HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:156435212 H BICRA like chromatin remodeling complex associated protein gene taxon:9606 20230307 ClinVar RGD 1313851 BICRAL HP:0003003 RGD:8554872 IAGP RGD:714090404 H BICRA like chromatin remodeling complex associated protein gene taxon:9606 20260519 ClinVar RGD 1313851 BICRAL HP:0004808 RGD:8554872 IAGP RGD:713721855 H BICRA like chromatin remodeling complex associated protein gene taxon:9606 20260707 ClinVar RGD 1313851 BICRAL HP:0004808 RGD:8554872 IAGP RGD:713722233 H BICRA like chromatin remodeling complex associated protein gene taxon:9606 20260519 ClinVar RGD 1313851 BICRAL HP:0004808 RGD:8554872 IAGP RGD:713726043 H BICRA like chromatin remodeling complex associated protein gene taxon:9606 20260519 ClinVar RGD 1313851 BICRAL HP:0012125 RGD:8554872 IAGP RGD:9687009 H BICRA like chromatin remodeling complex associated protein gene taxon:9606 20250708 ClinVar RGD 1313851 BICRAL HP:0012126 RGD:8554872 IAGP RGD:713564805 H BICRA like chromatin remodeling complex associated protein gene taxon:9606 20260519 ClinVar RGD 1313851 BICRAL HP:0030153 RGD:8554872 IAGP RGD:713721855 H BICRA like chromatin remodeling complex associated protein gene taxon:9606 20260519 ClinVar RGD 1313851 BICRAL HP:0030359 RGD:8554872 IAGP RGD:714090389 H BICRA like chromatin remodeling complex associated protein gene taxon:9606 20260519 ClinVar RGD 1313851 BICRAL HP:0100242 RGD:8554872 IAGP RGD:714090396 H BICRA like chromatin remodeling complex associated protein gene taxon:9606 20260519 ClinVar RGD 1313851 BICRAL HP:0100522 RGD:8554872 IAGP RGD:714158654 H BICRA like chromatin remodeling complex associated protein gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0001402 RGD:8554872 IAGP RGD:714081216 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0001402 RGD:8554872 IAGP RGD:714081230 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0002665 RGD:8554872 IAGP RGD:714090348 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0002861 RGD:8554872 IAGP RGD:714090165 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0004808 RGD:8554872 IAGP RGD:713717963 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0004808 RGD:8554872 IAGP RGD:713722202 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0004808 RGD:8554872 IAGP RGD:713722215 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0004808 RGD:8554872 IAGP RGD:713725911 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0004808 RGD:8554872 IAGP RGD:713725928 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0004808 RGD:8554872 IAGP RGD:713726024 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0004808 RGD:8554872 IAGP RGD:714158630 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0004808 RGD:8554872 IAGP RGD:714158636 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0004808 RGD:8554872 IAGP RGD:714158644 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0006770 RGD:8554872 IAGP RGD:713931103 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260707 ClinVar RGD 1313853 UBR2 HP:0006770 RGD:8554872 IAGP RGD:714090138 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0011797 RGD:8554872 IAGP RGD:713717827 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0011797 RGD:8554872 IAGP RGD:713717923 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0011797 RGD:8554872 IAGP RGD:713725864 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0011797 RGD:8554872 IAGP RGD:713725878 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0011797 RGD:8554872 IAGP RGD:713725893 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0011797 RGD:8554872 IAGP RGD:714158640 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0012126 RGD:8554872 IAGP RGD:713564767 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0012126 RGD:8554872 IAGP RGD:713717940 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0012126 RGD:8554872 IAGP RGD:713794521 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0012126 RGD:8554872 IAGP RGD:713931090 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0012126 RGD:8554872 IAGP RGD:713931103 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0030153 RGD:8554872 IAGP RGD:713725993 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0030153 RGD:8554872 IAGP RGD:714090172 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0030153 RGD:8554872 IAGP RGD:714158620 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0030359 RGD:8554872 IAGP RGD:714090313 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0100242 RGD:8554872 IAGP RGD:713717901 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0100242 RGD:8554872 IAGP RGD:714090235 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0100242 RGD:8554872 IAGP RGD:714090317 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0100242 RGD:8554872 IAGP RGD:714090334 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0100242 RGD:8554872 IAGP RGD:714158624 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0100522 RGD:8554872 IAGP RGD:713564732 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0100522 RGD:8554872 IAGP RGD:713717901 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0100522 RGD:8554872 IAGP RGD:713725993 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0100522 RGD:8554872 IAGP RGD:714158624 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260707 ClinVar RGD 1313853 UBR2 HP:0100526 RGD:8554872 IAGP RGD:714090229 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0100526 RGD:8554872 IAGP RGD:714090251 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0100526 RGD:8554872 IAGP RGD:714090326 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260519 ClinVar RGD 1313853 UBR2 HP:0100526 RGD:8554872 IAGP RGD:714158624 H ubiquitin protein ligase E3 component n-recognin 2 gene taxon:9606 20260707 ClinVar RGD 1313855 CMTM7 HP:0002861 RGD:8554872 IAGP RGD:713802162 H CKLF like MARVEL transmembrane domain containing 7 gene taxon:9606 20260519 ClinVar RGD 1313855 CMTM7 HP:0006770 RGD:8554872 IAGP RGD:713802112 H CKLF like MARVEL transmembrane domain containing 7 gene taxon:9606 20260519 ClinVar RGD 1313855 CMTM7 HP:0007716 RGD:8554872 IAGP RGD:714010392 H CKLF like MARVEL transmembrane domain containing 7 gene taxon:9606 20260519 ClinVar RGD 1313855 CMTM7 HP:0011797 RGD:8554872 IAGP RGD:713566971 H CKLF like MARVEL transmembrane domain containing 7 gene taxon:9606 20260519 ClinVar RGD 1313855 CMTM7 HP:0100242 RGD:8554872 IAGP RGD:713802125 H CKLF like MARVEL transmembrane domain containing 7 gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0000175 PMID:25741868|RGD:8554872 IAGP RGD:401798414 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0000324 PMID:25741868|RGD:8554872 IAGP RGD:713479774 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0000388 PMID:25741868|RGD:8554872 IAGP RGD:401798414 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0000508 PMID:25741868|RGD:8554872 IAGP RGD:713479774 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0000580 PMID:25741868|RGD:8554872 IAGP RGD:713479774 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0000581 PMID:25741868|RGD:8554872 IAGP RGD:713479774 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0000708 PMID:25741868|RGD:8554872 IAGP RGD:401798414 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0000717 RGD:8554872 IAGP RGD:39456932 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0000729 RGD:8554872 IAGP RGD:42723478 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260602 ClinVar RGD 1313857 SYNCRIP HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:151728887 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0001249 RGD:8554872 IAGP RGD:39456932 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:151728887 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:713479774 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0001250 RGD:8554872 IAGP RGD:39456932 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0001260 PMID:25741868|RGD:8554872 IAGP RGD:401798414 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:713479774 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:401798414 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0001357 PMID:25741868|RGD:8554872 IAGP RGD:713479774 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0001402 RGD:8554872 IAGP RGD:713761399 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0001402 RGD:8554872 IAGP RGD:714081935 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0002069 PMID:25741868|RGD:8554872 IAGP RGD:713479774 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0002861 RGD:8554872 IAGP RGD:714121212 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0003774 PMID:25741868|RGD:8554872 IAGP RGD:151728887 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0007018 RGD:8554872 IAGP RGD:39456932 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0011342 PMID:25741868|RGD:8554872 IAGP RGD:401798414 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0012126 RGD:8554872 IAGP RGD:713569080 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0012126 RGD:8554872 IAGP RGD:713569097 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0012126 RGD:8554872 IAGP RGD:713569116 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0012126 RGD:8554872 IAGP RGD:713569134 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0012126 RGD:8554872 IAGP RGD:713791830 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0012126 RGD:8554872 IAGP RGD:713931322 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0030153 RGD:8554872 IAGP RGD:713989633 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0030153 RGD:8554872 IAGP RGD:714258464 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0100022 PMID:25741868|RGD:8554872 IAGP RGD:401798414 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0100242 RGD:8554872 IAGP RGD:713483935 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313857 SYNCRIP HP:0100526 RGD:8554872 IAGP RGD:713483914 H synaptotagmin binding cytoplasmic RNA interacting protein gene taxon:9606 20260519 ClinVar RGD 1313858 PCMTD2 HP:0012126 RGD:8554872 IAGP RGD:713781895 H protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 gene taxon:9606 20260519 ClinVar RGD 1313863 RHPN1 HP:0001402 RGD:8554872 IAGP RGD:713767998 H rhophilin Rho GTPase binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313863 RHPN1 HP:0012126 RGD:8554872 IAGP RGD:713670660 H rhophilin Rho GTPase binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313863 RHPN1 HP:0012126 RGD:8554872 IAGP RGD:713670669 H rhophilin Rho GTPase binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313863 RHPN1 HP:0030359 RGD:8554872 IAGP RGD:714093991 H rhophilin Rho GTPase binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313863 RHPN1 HP:0100242 RGD:8554872 IAGP RGD:714093953 H rhophilin Rho GTPase binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313863 RHPN1 HP:0100522 RGD:8554872 IAGP RGD:713670648 H rhophilin Rho GTPase binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313863 RHPN1 HP:0100522 RGD:8554872 IAGP RGD:713670669 H rhophilin Rho GTPase binding protein 1 gene taxon:9606 20260707 ClinVar RGD 1313863 RHPN1 HP:0100522 RGD:8554872 IAGP RGD:714093845 H rhophilin Rho GTPase binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313863 RHPN1 HP:0100522 RGD:8554872 IAGP RGD:714093866 H rhophilin Rho GTPase binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313863 RHPN1 HP:0100526 RGD:8554872 IAGP RGD:713670648 H rhophilin Rho GTPase binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313863 RHPN1 HP:0100615 RGD:8554872 IAGP RGD:713491292 H rhophilin Rho GTPase binding protein 1 gene taxon:9606 20260519 ClinVar RGD 1313865 TMEM254 HP:0002861 RGD:8554872 IAGP RGD:713379753 H transmembrane protein 254 gene taxon:9606 20260519 ClinVar RGD 1313865 TMEM254 HP:0011797 RGD:8554872 IAGP RGD:713787259 H transmembrane protein 254 gene taxon:9606 20260519 ClinVar RGD 1313865 TMEM254 HP:0100242 RGD:8554872 IAGP RGD:713787325 H transmembrane protein 254 gene taxon:9606 20260519 ClinVar RGD 1313865 TMEM254 HP:0100526 RGD:8554872 IAGP RGD:713984822 H transmembrane protein 254 gene taxon:9606 20260519 ClinVar RGD 1313865 TMEM254 HP:0100526 RGD:8554872 IAGP RGD:714011406 H transmembrane protein 254 gene taxon:9606 20260519 ClinVar RGD 1313874 LSM14A HP:0001402 RGD:8554872 IAGP RGD:713363627 H LSM14A mRNA processing body assembly factor gene taxon:9606 20260519 ClinVar RGD 1313874 LSM14A HP:0002861 RGD:8554872 IAGP RGD:714268542 H LSM14A mRNA processing body assembly factor gene taxon:9606 20260519 ClinVar RGD 1313874 LSM14A HP:0006725 RGD:8554872 IAGP RGD:713354427 H LSM14A mRNA processing body assembly factor gene taxon:9606 20260519 ClinVar RGD 1313874 LSM14A HP:0100242 RGD:8554872 IAGP RGD:713354355 H LSM14A mRNA processing body assembly factor gene taxon:9606 20260519 ClinVar RGD 1313874 LSM14A HP:0100526 RGD:8554872 IAGP RGD:713354365 H LSM14A mRNA processing body assembly factor gene taxon:9606 20260519 ClinVar RGD 1313876 HSH2D HP:0012126 RGD:8554872 IAGP RGD:714271122 H hematopoietic SH2 domain containing gene taxon:9606 20260519 ClinVar RGD 1313879 TAF1A HP:0000407 ORPHA:154|RGD:8699517 IAGP H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20230821 HPO RGD 1313879 TAF1A HP:0000969 ORPHA:154|RGD:8699517 IAGP H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20240118 HPO RGD 1313879 TAF1A HP:0001635 ORPHA:154|RGD:8699517 IAGP H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20240118 HPO RGD 1313879 TAF1A HP:0001644 ORPHA:154|RGD:8699517 IAGP H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20230821 HPO RGD 1313879 TAF1A HP:0001723 RGD:8554872 IAGP RGD:155265995 H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20260519 ClinVar RGD 1313879 TAF1A HP:0001727 ORPHA:154|RGD:8699517 IAGP H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20240118 HPO RGD 1313879 TAF1A HP:0002665 RGD:8554872 IAGP RGD:713736985 H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20260519 ClinVar RGD 1313879 TAF1A HP:0002861 RGD:8554872 IAGP RGD:713736985 H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20260519 ClinVar RGD 1313879 TAF1A HP:0002861 RGD:8554872 IAGP RGD:714224081 H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20260519 ClinVar RGD 1313879 TAF1A HP:0002875 ORPHA:154|RGD:8699517 IAGP H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20240118 HPO RGD 1313879 TAF1A HP:0003198 ORPHA:154|RGD:8699517 IAGP H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20230821 HPO RGD 1313879 TAF1A HP:0003457 ORPHA:154|RGD:8699517 IAGP H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20230821 HPO RGD 1313879 TAF1A HP:0004808 RGD:8554872 IAGP RGD:713748026 H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20260519 ClinVar RGD 1313879 TAF1A HP:0007716 RGD:8554872 IAGP RGD:713736985 H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20260519 ClinVar RGD 1313879 TAF1A HP:0011675 ORPHA:154|RGD:8699517 IAGP H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20240118 HPO RGD 1313879 TAF1A HP:0012126 RGD:8554872 IAGP RGD:714017886 H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20260519 ClinVar RGD 1313879 TAF1A HP:0012378 ORPHA:154|RGD:8699517 IAGP H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20240118 HPO RGD 1313879 TAF1A HP:0012764 ORPHA:154|RGD:8699517 IAGP H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20240118 HPO RGD 1313879 TAF1A HP:0025169 ORPHA:154|RGD:8699517 IAGP H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20240118 HPO RGD 1313879 TAF1A HP:0100242 RGD:8554872 IAGP RGD:714224089 H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20260519 ClinVar RGD 1313879 TAF1A HP:0100522 RGD:8554872 IAGP RGD:713730912 H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20260519 ClinVar RGD 1313879 TAF1A HP:0100578 ORPHA:154|RGD:8699517 IAGP H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20230821 HPO RGD 1313879 TAF1A HP:0100615 RGD:8554872 IAGP RGD:713742768 H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20260519 ClinVar RGD 1313879 TAF1A HP:0100615 RGD:8554872 IAGP RGD:714017816 H TATA-box binding protein associated factor, RNA polymerase I subunit A gene taxon:9606 20260519 ClinVar RGD 1313881 P3H3 HP:0002861 RGD:8554872 IAGP RGD:714070454 H prolyl 3-hydroxylase 3 gene taxon:9606 20260519 ClinVar RGD 1313881 P3H3 HP:0006770 RGD:8554872 IAGP RGD:714070403 H prolyl 3-hydroxylase 3 gene taxon:9606 20260519 ClinVar RGD 1313881 P3H3 HP:0012126 RGD:8554872 IAGP RGD:713796894 H prolyl 3-hydroxylase 3 gene taxon:9606 20260707 ClinVar RGD 1313881 P3H3 HP:0100522 RGD:8554872 IAGP RGD:714070447 H prolyl 3-hydroxylase 3 gene taxon:9606 20260519 ClinVar RGD 1313881 P3H3 HP:0100526 RGD:8554872 IAGP RGD:714070454 H prolyl 3-hydroxylase 3 gene taxon:9606 20260519 ClinVar RGD 1313883 CATSPER3 HP:0001402 RGD:8554872 IAGP RGD:713754540 H cation channel sperm associated 3 gene taxon:9606 20260519 ClinVar RGD 1313883 CATSPER3 HP:0001402 RGD:8554872 IAGP RGD:714074518 H cation channel sperm associated 3 gene taxon:9606 20260519 ClinVar RGD 1313885 MBD4 HP:0000006 MIM:606660|MIM:619975|PMID:31322271|PMID:32239153|RGD:8699517 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20251023 HPO RGD 1313885 MBD4 HP:0001386 RGD:9588977|PMID:20676650 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20160907 RGD RGD 1313885 MBD4 HP:0001387 RGD:9588977|PMID:20676650 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20160907 RGD RGD 1313885 MBD4 HP:0002858 MIM:619975|PMID:35460607|RGD:8699517 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20250912 HPO RGD 1313885 MBD4 HP:0002923 RGD:9588977|PMID:20676650 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20160907 RGD RGD 1313885 MBD4 HP:0003003 MIM:619975|PMID:35460607|RGD:8699517 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20251023 HPO RGD 1313885 MBD4 HP:0003581 MIM:606660|PMID:32239153|RGD:8699517 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20250912 HPO RGD 1313885 MBD4 HP:0003596 MIM:619975|PMID:31322271|PMID:35460607|RGD:8699517 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20250912 HPO RGD 1313885 MBD4 HP:0003621 MIM:619975|PMID:35460607|RGD:8699517 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20250912 HPO RGD 1313885 MBD4 HP:0004808 MIM:619975|PMID:35460607|RGD:8699517 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20250912 HPO RGD 1313885 MBD4 HP:0004808 RGD:8554872 IAGP RGD:713955636 H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20260519 ClinVar RGD 1313885 MBD4 HP:0004808 RGD:8554872 IAGP RGD:714044465 H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20260519 ClinVar RGD 1313885 MBD4 HP:0005227 MIM:619975|PMID:35460607|RGD:8699517 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20251023 HPO RGD 1313885 MBD4 HP:0006162 RGD:9588977|PMID:20676650 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20160907 RGD RGD 1313885 MBD4 HP:0006252 RGD:9588977|PMID:20676650 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20160907 RGD RGD 1313885 MBD4 HP:0006770 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151355830 H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20260519 ClinVar RGD 1313885 MBD4 HP:0007716 MIM:606660|MIM:619975|PMID:32239153|PMID:35460607|RGD:8699517 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20250912 HPO RGD 1313885 MBD4 HP:0007716 PMID:25741868|PMID:28492532|PMID:29760383|PMID:30049810|PMID:32239153|PMID:35460607|PMID:38060262|PMID:40605265|RGD:8554872 IAGP RGD:153348602 H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20260519 ClinVar RGD 1313885 MBD4 HP:0011462 MIM:619975|PMID:30049810|PMID:35460607|RGD:8699517 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20250912 HPO RGD 1313885 MBD4 HP:0030075 MIM:619975|PMID:35460607|RGD:8699517 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20250912 HPO RGD 1313885 MBD4 HP:0031919 MIM:619975|PMID:35460607|RGD:8699517 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20250912 HPO RGD 1313885 MBD4 HP:0100008 MIM:619975|PMID:35460607|RGD:8699517 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20250912 HPO RGD 1313885 MBD4 no_association HP:0001386 RGD:9588978|PMID:22505706 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20160913 RGD RGD 1313885 MBD4 no_association HP:0001387 RGD:9588978|PMID:22505706 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20160913 RGD RGD 1313885 MBD4 no_association HP:0002923 RGD:9588978|PMID:22505706 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20160913 RGD RGD 1313885 MBD4 no_association HP:0006252 RGD:9588978|PMID:22505706 IAGP H methyl-CpG binding domain 4, DNA glycosylase gene taxon:9606 20160913 RGD RGD 1313887 TBX5 HP:0000003 PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164|RGD:8554872 IAGP RGD:10409674 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0000006 MIM:142900|PMID:12789647|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20260209 HPO RGD 1313887 TBX5 HP:0000185 MIM:142900|PMID:26219450|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0000218 MIM:142900|PMID:18706711|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0000256 RGD:8554872 IAGP RGD:405853987 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0000268 MIM:142900|PMID:22190901|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0000343 MIM:142900|PMID:18828908|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20260209 HPO RGD 1313887 TBX5 HP:0000347 MIM:142900|PMID:18828908|PMID:26219450|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0000365 ORPHA:101016|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20251023 HPO RGD 1313887 TBX5 HP:0000470 MIM:142900|PMID:18706711|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20260209 HPO RGD 1313887 TBX5 HP:0000506 PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164|RGD:8554872 IAGP RGD:10409674 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0000767 MIM:142900|ORPHA:392|PMID:18706711|PMID:22190901|PMID:24408148|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20260209 HPO RGD 1313887 TBX5 HP:0000772 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0000774 MIM:142900|PMID:12789647|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20260209 HPO RGD 1313887 TBX5 HP:0000878 MIM:142900|PMID:17534187|PMID:20519243|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0000882 MIM:142900|PMID:12789647|PMID:17534187|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0000889 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0000894 MIM:142900|PMID:18828908|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20260209 HPO RGD 1313887 TBX5 HP:0000912 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0000914 MIM:142900|PMID:18706711|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0000954 MIM:142900|PMID:22190901|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20260209 HPO RGD 1313887 TBX5 HP:0000960 MIM:142900|PMID:22190901|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001159 MIM:142900|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001162 MIM:142900|PMID:18706711|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001171 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0001191 MIM:142900|PMID:10077612|PMID:27026770|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001197 ORPHA:101016|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0001199 MIM:142900|ORPHA:392|PMID:10077612|PMID:10842287|PMID:12789647|PMID:12818525|PMID:15710732|PMID:16917909|PMID:17534187|PMID:18351627|PMID:18706711|PMID:20519243|PMID:22190901|PMID:24408148|PMID:25216260|PMID:26219450|PMID:26401820|PMID:27026770|PMID:27552067|PMID:27652283|PMID:28434921|PMID:29755943|PMID:33866394|PMID:34490705|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001199 PMID:10077612|PMID:11431700|PMID:11555635|PMID:12499378|PMID:12789647|PMID:17534187|PMID:19648116|PMID:20450920|PMID:20519243|PMID:21897873|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30552424|PMID:8988165|RGD:8554872 IAGP RGD:8597742 H T-box transcription factor 5 gene taxon:9606 20260707 ClinVar RGD 1313887 TBX5 HP:0001233 MIM:142900|PMID:33866394|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001245 MIM:142900|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0001250 ORPHA:101016|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0001252 RGD:8554872 IAGP RGD:405853987 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0001279 ORPHA:101016|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0001347 RGD:8554872 IAGP RGD:405853987 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0001377 MIM:142900|PMID:33866394|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001387 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0001626 PMID:25741868|RGD:8554872 IAGP RGD:243053019 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0001627 PMID:10077612|PMID:10077762|PMID:12499378|PMID:12789647|PMID:16380715|PMID:20519243|PMID:25216260|PMID:25931334|PMID:28492532|PMID:34917776|RGD:8554872 IAGP RGD:8597744 H T-box transcription factor 5 gene taxon:9606 20260707 ClinVar RGD 1313887 TBX5 HP:0001629 MIM:142900|ORPHA:392|PMID:10077612|PMID:12789647|PMID:15710732|PMID:16917909|PMID:17534187|PMID:18706711|PMID:20519243|PMID:22190901|PMID:24408148|PMID:26219450|PMID:26401820|PMID:27026770|PMID:27552067|PMID:27652283|PMID:34490705|PMID:36444245|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001629 PMID:10077612|PMID:11431700|PMID:11555635|PMID:12499378|PMID:12789647|PMID:17534187|PMID:19648116|PMID:20450920|PMID:20519243|PMID:21897873|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30552424|PMID:8988165|RGD:8554872 IAGP RGD:8597742 H T-box transcription factor 5 gene taxon:9606 20260707 ClinVar RGD 1313887 TBX5 HP:0001629 PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164|RGD:8554872 IAGP RGD:10409674 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0001629 RGD:8554872 IAGP RGD:13437293 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0001631 MIM:142900|ORPHA:392|PMID:10077612|PMID:10842287|PMID:12789647|PMID:12818525|PMID:16917909|PMID:17534187|PMID:18828908|PMID:20519243|PMID:25216260|PMID:29755943|PMID:33866394|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001631 PMID:10077612|PMID:11431700|PMID:11555635|PMID:12499378|PMID:12789647|PMID:17534187|PMID:19648116|PMID:20450920|PMID:20519243|PMID:21897873|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30552424|PMID:8988165|RGD:8554872 IAGP RGD:8597742 H T-box transcription factor 5 gene taxon:9606 20260707 ClinVar RGD 1313887 TBX5 HP:0001631 PMID:25741868|RGD:8554872 IAGP RGD:401751113 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0001631 RGD:8554872 IAGP RGD:13437293 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0001631 RGD:8554872 IAGP RGD:14745368 H T-box transcription factor 5 gene taxon:9606 20260707 ClinVar RGD 1313887 TBX5 HP:0001634 MIM:142900|PMID:16917909|PMID:18351627|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001642 MIM:142900|PMID:17534187|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001643 MIM:142900|ORPHA:392|PMID:10077612|PMID:16917909|PMID:22190901|PMID:25216260|PMID:27552067|PMID:34490705|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001644 PMID:16183809|PMID:16917909|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150499944 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0001645 ORPHA:101016|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0001653 MIM:142900|PMID:16917909|PMID:17534187|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001655 MIM:142900|PMID:10842287|PMID:12789647|PMID:12818525|PMID:15710732|PMID:16917909|PMID:17534187|PMID:18351627|PMID:18828908|PMID:20519243|PMID:22190901|PMID:24408148|PMID:25216260|PMID:26219450|PMID:26401820|PMID:27026770|PMID:27652283|PMID:28434921|PMID:29755943|PMID:33866394|PMID:34490705|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001664 ORPHA:101016|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0001674 MIM:142900|PMID:10842287|PMID:12789647|PMID:12818525|PMID:15710732|PMID:16917909|PMID:17534187|PMID:18351627|PMID:18828908|PMID:20519243|PMID:22190901|PMID:24408148|PMID:25216260|PMID:26219450|PMID:26401820|PMID:27026770|PMID:28434921|PMID:29755943|PMID:30538526|PMID:33866394|PMID:34490705|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001678 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0001679 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0001684 MIM:142900|PMID:12789647|PMID:15710732|PMID:16917909|PMID:17534187|PMID:18351627|PMID:18706711|PMID:20519243|PMID:24408148|PMID:25216260|PMID:26219450|PMID:26401820|PMID:27026770|PMID:27552067|PMID:27652283|PMID:28434921|PMID:29755943|PMID:30538526|PMID:33866394|PMID:34490705|PMID:36444245|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001684 PMID:25741868|PMID:29555671|RGD:8554872 IAGP RGD:13517554 H T-box transcription factor 5 gene taxon:9606 20210323 ClinVar RGD 1313887 TBX5 HP:0001684 PMID:25741868|RGD:8554872 IAGP RGD:14396020 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0001688 MIM:142900|ORPHA:101016|PMID:22190901|PMID:25216260|PMID:29755943|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001704 MIM:142900|PMID:16917909|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001709 MIM:142900|PMID:33866394|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0001719 MIM:142900|PMID:12789647|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0002092 MIM:142900|PMID:12789647|PMID:16917909|PMID:18706711|PMID:25216260|PMID:28434921|PMID:30538526|PMID:33866394|PMID:34490705|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0002389 PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164|RGD:8554872 IAGP RGD:10409674 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0002558 PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164|RGD:8554872 IAGP RGD:10409674 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0002650 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20251023 HPO RGD 1313887 TBX5 HP:0002779 PMID:10077612|PMID:11431700|PMID:11555635|PMID:12499378|PMID:12789647|PMID:17534187|PMID:19648116|PMID:20450920|PMID:20519243|PMID:21897873|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30552424|PMID:8988165|RGD:8554872 IAGP RGD:8597742 H T-box transcription factor 5 gene taxon:9606 20260707 ClinVar RGD 1313887 TBX5 HP:0002808 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0002861 RGD:8554872 IAGP RGD:401765259 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0002900 ORPHA:101016|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0002943 MIM:142900|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0002974 MIM:142900|ORPHA:392|PMID:12789647|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0002984 MIM:142900|PMID:10077612|PMID:12789647|PMID:12818525|PMID:16917909|PMID:17534187|PMID:18706711|PMID:26219450|PMID:27026770|PMID:27552067|PMID:30538526|PMID:33866394|PMID:34490705|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0002984 PMID:25741868|RGD:8554872 IAGP RGD:150423552 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0002986 MIM:142900|PMID:10842287|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0003022 MIM:142900|PMID:12789647|PMID:30538526|PMID:33866394|PMID:34490705|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0003031 MIM:142900|PMID:10842287|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0003042 MIM:142900|PMID:24408148|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0003182 PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164|RGD:8554872 IAGP RGD:10409674 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0003363 MIM:142900|PMID:12789647|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0003577 MIM:142900|PMID:10077612|PMID:18706711|PMID:26219450|PMID:27026770|PMID:27552067|PMID:27652283|PMID:28434921|PMID:30538526|PMID:33866394|PMID:36444245|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0003808 RGD:8554872 IAGP RGD:405853987 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0003834 MIM:142900|PMID:33866394|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0003974 MIM:142900|PMID:12789647|PMID:15710732|PMID:16917909|PMID:17534187|PMID:20519243|PMID:25216260|PMID:26219450|PMID:27026770|PMID:27652283|PMID:28434921|PMID:33866394|PMID:34490705|PMID:36444245|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0003982 MIM:142900|PMID:20519243|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0004058 MIM:142900|PMID:20519243|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0004209 MIM:142900|PMID:12789647|PMID:18351627|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20260209 HPO RGD 1313887 TBX5 HP:0004220 MIM:142900|PMID:17534187|PMID:18351627|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0004308 ORPHA:101016|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0004383 MIM:142900|ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250416 HPO RGD 1313887 TBX5 HP:0004602 MIM:142900|PMID:12789647|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0004756 MIM:142900|PMID:20519243|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0004757 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0004762 MIM:142900|PMID:20519243|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0004977 PMID:25741868|RGD:8554872 IAGP RGD:243053019 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0005135 ORPHA:101016|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0005180 MIM:142900|PMID:26219450|PMID:27652283|PMID:34490705|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0005184 ORPHA:101016|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0005184 PMID:12624158|PMID:25741868|RGD:8554872 IAGP RGD:34895907 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0005301 MIM:142900|PMID:10077612|PMID:20519243|PMID:34490705|PMID:36444245|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0005707 PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164|RGD:8554872 IAGP RGD:10409674 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0005773 MIM:142900|PMID:16917909|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0005792 MIM:142900|PMID:12789647|PMID:15710732|PMID:16917909|PMID:17534187|PMID:18706711|PMID:27552067|PMID:27652283|PMID:30538526|PMID:33866394|PMID:34490705|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0005916 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0006101 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0006156 MIM:142900|PMID:12789647|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0006394 MIM:142900|PMID:16917909|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0006501 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0006695 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0006695 PMID:25741868|RGD:8554872 IAGP RGD:12743336 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0008081 PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164|RGD:8554872 IAGP RGD:10409674 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0009460 MIM:142900|PMID:10842287|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0009486 MIM:142900|PMID:26219450|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0009535 MIM:142900|PMID:12789647|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0009577 MIM:142900|PMID:18351627|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0009601 PMID:16183809|PMID:16917909|PMID:25741868|PMID:26938784|PMID:28492532|PMID:29755943|RGD:8554872 IAGP RGD:11632456 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0009601 PMID:25741868|RGD:8554872 IAGP RGD:14396020 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0009622 MIM:142900|PMID:22190901|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0009623 MIM:142900|PMID:17534187|PMID:18351627|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0009751 MIM:142900|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0009777 MIM:142900|ORPHA:392|PMID:10077612|PMID:10842287|PMID:12789647|PMID:12818525|PMID:15710732|PMID:16917909|PMID:17534187|PMID:18351627|PMID:18706711|PMID:20519243|PMID:24408148|PMID:25216260|PMID:26219450|PMID:26401820|PMID:27026770|PMID:27652283|PMID:28434921|PMID:29755943|PMID:30538526|PMID:33866394|PMID:34490705|PMID:36444245|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0009777 PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164|RGD:8554872 IAGP RGD:10409674 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0009778 MIM:142900|PMID:10077612|PMID:10842287|PMID:12789647|PMID:12818525|PMID:15710732|PMID:16917909|PMID:17534187|PMID:18351627|PMID:18706711|PMID:20519243|PMID:24408148|PMID:25216260|PMID:26219450|PMID:26401820|PMID:27026770|PMID:27652283|PMID:28434921|PMID:29755943|PMID:30538526|PMID:33866394|PMID:34490705|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0009812 MIM:142900|PMID:10077612|PMID:10842287|PMID:12789647|PMID:12818525|PMID:15710732|PMID:16917909|PMID:17534187|PMID:18351627|PMID:18706711|PMID:18828908|PMID:20519243|PMID:22190901|PMID:24408148|PMID:25216260|PMID:26219450|PMID:26401820|PMID:27026770|PMID:27552067|PMID:27652283|PMID:28434921|PMID:29755943|PMID:30538526|PMID:33866394|PMID:34490705|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0009813 MIM:142900|PMID:10077612|PMID:10842287|PMID:12789647|PMID:12818525|PMID:15710732|PMID:16917909|PMID:17534187|PMID:18351627|PMID:18706711|PMID:18828908|PMID:20519243|PMID:22190901|PMID:24408148|PMID:25216260|PMID:26219450|PMID:26401820|PMID:27026770|PMID:27552067|PMID:27652283|PMID:28434921|PMID:29755943|PMID:30538526|PMID:33866394|PMID:34490705|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0009824 MIM:142900|PMID:18706711|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0009829 MIM:142900|ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250416 HPO RGD 1313887 TBX5 HP:0009944 MIM:142900|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0010034 MIM:142900|PMID:18351627|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0010035 MIM:142900|PMID:16917909|PMID:18351627|PMID:34490705|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0010438 PMID:25741868|RGD:8554872 IAGP RGD:150423552 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0010487 MIM:142900|PMID:12789647|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0010567 MIM:142900|PMID:18706711|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0010704 MIM:142900|PMID:12789647|PMID:27552067|PMID:33866394|PMID:34490705|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0010772 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0011304 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20260209 HPO RGD 1313887 TBX5 HP:0011565 MIM:142900|PMID:10077612|PMID:10842287|PMID:12789647|PMID:12818525|PMID:15710732|PMID:16917909|PMID:17534187|PMID:18351627|PMID:18706711|PMID:18828908|PMID:20519243|PMID:22190901|PMID:24408148|PMID:25216260|PMID:26219450|PMID:26401820|PMID:27026770|PMID:27552067|PMID:27652283|PMID:28434921|PMID:29755943|PMID:30538526|PMID:33866394|PMID:34490705|PMID:36444245|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0011567 MIM:142900|PMID:22190901|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0011623 MIM:142900|PMID:10842287|PMID:12789647|PMID:12818525|PMID:16917909|PMID:17534187|PMID:18351627|PMID:18828908|PMID:20519243|PMID:25216260|PMID:27026770|PMID:28434921|PMID:29755943|PMID:30538526|PMID:33866394|PMID:34490705|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0011636 MIM:142900|PMID:16917909|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0011643 MIM:142900|PMID:10077612|PMID:10842287|PMID:12789647|PMID:12818525|PMID:15710732|PMID:16917909|PMID:17534187|PMID:18351627|PMID:18706711|PMID:18828908|PMID:20519243|PMID:22190901|PMID:24408148|PMID:25216260|PMID:26219450|PMID:26401820|PMID:27026770|PMID:27552067|PMID:27652283|PMID:28434921|PMID:29755943|PMID:30538526|PMID:33866394|PMID:34490705|PMID:36444245|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20260209 HPO RGD 1313887 TBX5 HP:0011664 MIM:142900|PMID:10842287|PMID:26401820|PMID:29755943|PMID:34490705|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0011682 MIM:142900|PMID:10842287|PMID:12789647|PMID:12818525|PMID:16917909|PMID:17534187|PMID:18351627|PMID:18828908|PMID:20519243|PMID:25216260|PMID:27026770|PMID:28434921|PMID:29755943|PMID:30538526|PMID:33866394|PMID:34490705|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0011705 MIM:142900|ORPHA:392|PMID:16917909|PMID:22190901|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0011709 MIM:142900|PMID:16917909|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0011927 MIM:142900|PMID:16917909|PMID:8730285|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0011939 MIM:142900|PMID:10842287|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0011995 MIM:142900|PMID:18706711|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0012332 ORPHA:101016|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0030148 RGD:8554872 IAGP RGD:405853987 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0030153 RGD:8554872 IAGP RGD:713667937 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0030241 MIM:142900|PMID:12818525|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0030680 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0030718 MIM:142900|PMID:18706711|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0031095 ORPHA:392|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20241212 HPO RGD 1313887 TBX5 HP:0031134 MIM:142900|PMID:34490705|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0031546 MIM:142900|PMID:10077612|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0031664 RGD:8554872 IAGP RGD:405853987 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0031826 RGD:8554872 IAGP RGD:405853987 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0034198 MIM:142900|PMID:27026770|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0040019 MIM:142900|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313887 TBX5 HP:0040064 PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164|RGD:8554872 IAGP RGD:10409674 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0040194 RGD:8554872 IAGP RGD:405853987 H T-box transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1313887 TBX5 HP:0100379 MIM:142900|PMID:18351627|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0100398 MIM:142900|PMID:18351627|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0200021 MIM:142900|ORPHA:392|PMID:20519243|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20250912 HPO RGD 1313887 TBX5 HP:0500018 ORPHA:101016|RGD:8699517 IAGP H T-box transcription factor 5 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000006 MIM:610125|MIM:613986|PMID:18728160|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20260209 HPO RGD 1313892 OTX2 HP:0000028 MIM:610125|ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250416 HPO RGD 1313892 OTX2 HP:0000044 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000054 MIM:610125|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000133 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0000141 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000160 ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000171 ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000175 MIM:610125|ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20260209 HPO RGD 1313892 OTX2 HP:0000252 PMID:19965921|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38596992 H orthodenticle homeobox 2 gene taxon:9606 20230214 ClinVar RGD 1313892 OTX2 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:150557117 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0000348 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0000356 PMID:25741868|RGD:8554872 IAGP RGD:150557117 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0000358 ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20240815 HPO RGD 1313892 OTX2 HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:8598371 H orthodenticle homeobox 2 gene taxon:9606 20260602 ClinVar RGD 1313892 OTX2 HP:0000377 PMID:25741868|RGD:8554872 IAGP RGD:8598371 H orthodenticle homeobox 2 gene taxon:9606 20260602 ClinVar RGD 1313892 OTX2 HP:0000407 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000457 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000458 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000478 ORPHA:95494|ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250416 HPO RGD 1313892 OTX2 HP:0000482 MIM:610125|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000482 PMID:15846561|PMID:25741868|RGD:8554872 IAGP RGD:730467009 H orthodenticle homeobox 2 gene taxon:9606 20260609 ClinVar RGD 1313892 OTX2 HP:0000486 ORPHA:3157|ORPHA:35612|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250416 HPO RGD 1313892 OTX2 HP:0000486 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0000501 ORPHA:35612|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000505 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:243059207 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0000518 MIM:610125|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000518 PMID:25741868|RGD:8554872 IAGP RGD:150557117 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0000528 MIM:610125|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000528 PMID:25741868|RGD:8554872 IAGP RGD:155644673 H orthodenticle homeobox 2 gene taxon:9606 20221108 ClinVar RGD 1313892 OTX2 HP:0000528 PMID:29178648|RGD:8554872 IAGP RGD:13592879 H orthodenticle homeobox 2 gene taxon:9606 20210323 ClinVar RGD 1313892 OTX2 HP:0000548 PMID:25741868|RGD:8554872 IAGP RGD:243059207 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0000556 MIM:610125|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000556 PMID:15846561|PMID:25741868|RGD:8554872 IAGP RGD:730467009 H orthodenticle homeobox 2 gene taxon:9606 20260609 ClinVar RGD 1313892 OTX2 HP:0000556 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20250311 ClinVar RGD 1313892 OTX2 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:243059207 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0000556 RGD:8554872 IAGP RGD:26909640 H orthodenticle homeobox 2 gene taxon:9606 20210323 ClinVar RGD 1313892 OTX2 HP:0000556 RGD:8554872 IAGP RGD:26910427 H orthodenticle homeobox 2 gene taxon:9606 20210323 ClinVar RGD 1313892 OTX2 HP:0000568 MIM:610125|ORPHA:35612|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250416 HPO RGD 1313892 OTX2 HP:0000568 PMID:15846561|PMID:25741868|RGD:8554872 IAGP RGD:730467009 H orthodenticle homeobox 2 gene taxon:9606 20260609 ClinVar RGD 1313892 OTX2 HP:0000589 MIM:610125|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000609 MIM:610125|ORPHA:3157|ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250416 HPO RGD 1313892 OTX2 HP:0000610 ORPHA:35612|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000618 PMID:25741868|RGD:8554872 IAGP RGD:8598371 H orthodenticle homeobox 2 gene taxon:9606 20260602 ClinVar RGD 1313892 OTX2 HP:0000639 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000639 PMID:25741868|RGD:8554872 IAGP RGD:21404323 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0000648 PMID:25741868|RGD:8554872 IAGP RGD:596944305 H orthodenticle homeobox 2 gene taxon:9606 20250107 ClinVar RGD 1313892 OTX2 HP:0000648 PMID:25741868|RGD:8554872 IAGP RGD:596944600 H orthodenticle homeobox 2 gene taxon:9606 20250107 ClinVar RGD 1313892 OTX2 HP:0000648 PMID:25741868|RGD:8554872 IAGP RGD:8598371 H orthodenticle homeobox 2 gene taxon:9606 20260602 ClinVar RGD 1313892 OTX2 HP:0000708 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0000717 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000717 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:8598371 H orthodenticle homeobox 2 gene taxon:9606 20260602 ClinVar RGD 1313892 OTX2 HP:0000789 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000808 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0000823 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20251023 HPO RGD 1313892 OTX2 HP:0000824 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000839 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000851 RGD:8554872 IAGP RGD:153303098 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0000864 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000873 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000938 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000958 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0000966 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0001249 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20260209 HPO RGD 1313892 OTX2 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:8598371 H orthodenticle homeobox 2 gene taxon:9606 20260602 ClinVar RGD 1313892 OTX2 HP:0001249 RGD:8554872 IAGP RGD:713889970 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0001250 MIM:610125|MIM:613986|ORPHA:3157|ORPHA:95494|PMID:18728160|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250912 HPO RGD 1313892 OTX2 HP:0001250 PMID:15846561|PMID:25741868|RGD:8554872 IAGP RGD:730467009 H orthodenticle homeobox 2 gene taxon:9606 20260609 ClinVar RGD 1313892 OTX2 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:8598371 H orthodenticle homeobox 2 gene taxon:9606 20260602 ClinVar RGD 1313892 OTX2 HP:0001251 PMID:15846561|PMID:25741868|RGD:8554872 IAGP RGD:730467009 H orthodenticle homeobox 2 gene taxon:9606 20260609 ClinVar RGD 1313892 OTX2 HP:0001252 MIM:610125|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20260209 HPO RGD 1313892 OTX2 HP:0001263 MIM:610125|ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20260209 HPO RGD 1313892 OTX2 HP:0001274 ORPHA:3157|ORPHA:95494|ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250416 HPO RGD 1313892 OTX2 HP:0001274 PMID:25741868|RGD:8554872 IAGP RGD:150557117 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0001290 MIM:610125|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0001291 ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0001331 ORPHA:3157|ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250416 HPO RGD 1313892 OTX2 HP:0001360 ORPHA:95494|ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250416 HPO RGD 1313892 OTX2 HP:0001382 MIM:610125|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20260209 HPO RGD 1313892 OTX2 HP:0001510 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0001511 PMID:25741868|RGD:8554872 IAGP RGD:8598371 H orthodenticle homeobox 2 gene taxon:9606 20260602 ClinVar RGD 1313892 OTX2 HP:0001513 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0001513 PMID:25741868|RGD:8554872 IAGP RGD:243059207 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0001561 ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0001622 PMID:25741868|RGD:8554872 IAGP RGD:8598371 H orthodenticle homeobox 2 gene taxon:9606 20260602 ClinVar RGD 1313892 OTX2 HP:0001631 PMID:25741868|RGD:8554872 IAGP RGD:150557117 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0001696 ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0001763 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0001943 MIM:613986|ORPHA:95494|PMID:18728160|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250912 HPO RGD 1313892 OTX2 HP:0001959 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0001998 MIM:613986|PMID:18728160|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250912 HPO RGD 1313892 OTX2 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:8598371 H orthodenticle homeobox 2 gene taxon:9606 20260602 ClinVar RGD 1313892 OTX2 HP:0002019 ORPHA:3157|ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250416 HPO RGD 1313892 OTX2 HP:0002032 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0002098 ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0002194 PMID:25741868|RGD:8554872 IAGP RGD:8598371 H orthodenticle homeobox 2 gene taxon:9606 20260602 ClinVar RGD 1313892 OTX2 HP:0002360 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0002539 PMID:25741868|RGD:8554872 IAGP RGD:150557117 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0002575 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0002615 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0002750 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0002904 MIM:613986|PMID:18728160|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250912 HPO RGD 1313892 OTX2 HP:0002920 MIM:613986|ORPHA:95494|PMID:18728160|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250912 HPO RGD 1313892 OTX2 HP:0003623 MIM:613986|PMID:18728160|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250912 HPO RGD 1313892 OTX2 HP:0004322 MIM:610125|MIM:613986|ORPHA:3157|PMID:18728160|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250912 HPO RGD 1313892 OTX2 HP:0004322 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0004374 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0004637 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0004691 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0004796 PMID:25741868|RGD:8554872 IAGP RGD:150557117 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0005625 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0007360 ORPHA:3157|ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250416 HPO RGD 1313892 OTX2 HP:0007703 ORPHA:35612|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0008187 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0008232 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0008245 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0008499 ORPHA:35612|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0008551 PMID:25741868|RGD:8554872 IAGP RGD:8598371 H orthodenticle homeobox 2 gene taxon:9606 20260602 ClinVar RGD 1313892 OTX2 HP:0008689 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0008734 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0008734 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0008736 ORPHA:3157|ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250416 HPO RGD 1313892 OTX2 HP:0009099 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20240404 HPO RGD 1313892 OTX2 HP:0009800 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0009888 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0009892 PMID:25741868|RGD:8554872 IAGP RGD:150557117 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0009914 ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0009924 ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0009939 ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0010311 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0010442 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0010626 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0010627 ORPHA:3157|ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250416 HPO RGD 1313892 OTX2 HP:0010862 PMID:25741868|RGD:8554872 IAGP RGD:8598371 H orthodenticle homeobox 2 gene taxon:9606 20260602 ClinVar RGD 1313892 OTX2 HP:0010864 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0010864 PMID:25741868|RGD:8554872 IAGP RGD:8598371 H orthodenticle homeobox 2 gene taxon:9606 20260602 ClinVar RGD 1313892 OTX2 HP:0011297 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0011344 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0011386 ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0011478 PMID:25741868|RGD:8554872 IAGP RGD:152999318 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0011755 MIM:610125|MIM:613986|ORPHA:95494|PMID:18728160|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250912 HPO RGD 1313892 OTX2 HP:0011757 MIM:613986|PMID:18728160|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250912 HPO RGD 1313892 OTX2 HP:0011968 MIM:613986|PMID:18728160|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250912 HPO RGD 1313892 OTX2 HP:0011969 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0012378 ORPHA:3157|ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250416 HPO RGD 1313892 OTX2 HP:0012448 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0012469 PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076|RGD:8554872 IAGP RGD:21072593 H orthodenticle homeobox 2 gene taxon:9606 20260519 ClinVar RGD 1313892 OTX2 HP:0012731 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0030341 MIM:613986|PMID:18728160|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250912 HPO RGD 1313892 OTX2 HP:0030344 MIM:613986|PMID:18728160|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250912 HPO RGD 1313892 OTX2 HP:0030680 ORPHA:3157|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0031098 MIM:613986|PMID:18728160|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250912 HPO RGD 1313892 OTX2 HP:0034323 MIM:613986|PMID:18728160|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250912 HPO RGD 1313892 OTX2 HP:0040075 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0040086 ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0100596 ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0100663 ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0100716 PMID:25741868|RGD:8554872 IAGP RGD:8598371 H orthodenticle homeobox 2 gene taxon:9606 20260602 ClinVar RGD 1313892 OTX2 HP:0100840 ORPHA:990|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20230821 HPO RGD 1313892 OTX2 HP:0100842 ORPHA:3157|ORPHA:95494|RGD:8699517 IAGP H orthodenticle homeobox 2 gene taxon:9606 20250416 HPO RGD 1313896 CAPRIN1 HP:0000006 MIM:620636|MIM:620782|PMID:35979925|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000006 PMID:25741868|PMID:35979925|RGD:8554872 IAGP RGD:401830897 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0000201 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000219 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000219 PMID:25741868|RGD:8554872 IAGP RGD:713948785 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0000276 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000294 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000316 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000319 PMID:25741868|RGD:8554872 IAGP RGD:713948785 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0000324 PMID:25741868|PMID:35979925|RGD:8554872 IAGP RGD:713969303 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0000343 PMID:25741868|RGD:8554872 IAGP RGD:713948785 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0000347 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000365 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000369 PMID:25741868|PMID:35979925|RGD:8554872 IAGP RGD:713969303 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0000455 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000455 PMID:25741868|PMID:35979925|RGD:8554872 IAGP RGD:714141079 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0000470 PMID:25741868|PMID:35979925|RGD:8554872 IAGP RGD:713969303 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0000483 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000486 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000490 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000508 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000540 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000545 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000601 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:401720027 H cell cycle associated protein 1 gene taxon:9606 20230808 ClinVar RGD 1313896 CAPRIN1 HP:0000718 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000729 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:156435432 H cell cycle associated protein 1 gene taxon:9606 20230307 ClinVar RGD 1313896 CAPRIN1 HP:0000739 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000750 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:713948785 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0000957 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0000960 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0001195 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0001212 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:405026724 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0001251 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0001260 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0001263 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0001263 PMID:25741868|PMID:35979925|RGD:8554872 IAGP RGD:713969303 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:713948785 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0001272 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0001284 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0001337 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0001402 RGD:8554872 IAGP RGD:714157623 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0001513 PMID:25741868|RGD:8554872 IAGP RGD:405026724 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0001537 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0001631 PMID:25741868|RGD:8554872 IAGP RGD:713948785 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0002015 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0002059 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0002066 PMID:25741868|RGD:8554872 IAGP RGD:713948785 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0002075 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0002121 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0002194 PMID:25741868|RGD:8554872 IAGP RGD:713948785 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0002317 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0002384 PMID:25741868|RGD:8554872 IAGP RGD:405026724 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0002392 PMID:25741868|PMID:35979925|RGD:8554872 IAGP RGD:401830897 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0002505 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0002521 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0002650 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0002861 RGD:8554872 IAGP RGD:714225584 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0002861 RGD:8554872 IAGP RGD:714225596 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0002870 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0003202 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0003391 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0003477 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0003577 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0003593 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0003621 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0003701 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0004209 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0004808 RGD:8554872 IAGP RGD:713743248 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0004808 RGD:8554872 IAGP RGD:713743265 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0004808 RGD:8554872 IAGP RGD:713748348 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0007000 PMID:25741868|PMID:35979925|RGD:8554872 IAGP RGD:401830897 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0007018 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0007359 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0007359 PMID:25741868|RGD:8554872 IAGP RGD:405026724 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0009765 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0010862 PMID:25741868|RGD:8554872 IAGP RGD:713948785 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0011167 PMID:25741868|RGD:8554872 IAGP RGD:401798363 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0011265 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0011463 MIM:620636|MIM:620782|PMID:35979925|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0011797 RGD:8554872 IAGP RGD:713731415 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0012126 RGD:8554872 IAGP RGD:714018537 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0012126 RGD:8554872 IAGP RGD:714018543 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0012126 RGD:8554872 IAGP RGD:714018554 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0012126 RGD:8554872 IAGP RGD:714018581 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0012469 MIM:620782|PMID:35979925|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0030153 RGD:8554872 IAGP RGD:714018554 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0034332 MIM:620636|PMID:36136249|RGD:8699517 IAGP H cell cycle associated protein 1 gene taxon:9606 20250912 HPO RGD 1313896 CAPRIN1 HP:0100242 RGD:8554872 IAGP RGD:714018554 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0100242 RGD:8554872 IAGP RGD:714225592 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0100522 RGD:8554872 IAGP RGD:714018554 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0200134 PMID:25741868|RGD:8554872 IAGP RGD:151661288 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313896 CAPRIN1 HP:0200134 PMID:25741868|RGD:8554872 IAGP RGD:329848445 H cell cycle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313898 C10orf90 HP:0030153 RGD:8554872 IAGP RGD:713777983 H chromosome 10 open reading frame 90 gene taxon:9606 20260519 ClinVar RGD 1313900 ARMH3 HP:0004808 RGD:8554872 IAGP RGD:714258677 H armadillo like helical domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1313900 ARMH3 HP:0011797 RGD:8554872 IAGP RGD:713776898 H armadillo like helical domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1313900 ARMH3 HP:0011797 RGD:8554872 IAGP RGD:713776912 H armadillo like helical domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1313900 ARMH3 HP:0012126 RGD:8554872 IAGP RGD:713732273 H armadillo like helical domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1313900 ARMH3 HP:0012126 RGD:8554872 IAGP RGD:713732295 H armadillo like helical domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1313900 ARMH3 HP:0100242 RGD:8554872 IAGP RGD:713732251 H armadillo like helical domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1313900 ARMH3 HP:0100526 RGD:8554872 IAGP RGD:713783064 H armadillo like helical domain containing 3 gene taxon:9606 20260519 ClinVar RGD 1313902 AP1G2 HP:0001402 RGD:8554872 IAGP RGD:713353286 H adaptor related protein complex 1 subunit gamma 2 gene taxon:9606 20260519 ClinVar RGD 1313902 AP1G2 HP:0100522 RGD:8554872 IAGP RGD:714206911 H adaptor related protein complex 1 subunit gamma 2 gene taxon:9606 20260519 ClinVar RGD 1313904 FOXN3 HP:0004808 RGD:8554872 IAGP RGD:713549282 H forkhead box N3 gene taxon:9606 20260519 ClinVar RGD 1313904 FOXN3 HP:0004808 RGD:8554872 IAGP RGD:713553668 H forkhead box N3 gene taxon:9606 20260519 ClinVar RGD 1313904 FOXN3 HP:0004808 RGD:8554872 IAGP RGD:714163807 H forkhead box N3 gene taxon:9606 20260519 ClinVar RGD 1313904 FOXN3 HP:0012126 RGD:8554872 IAGP RGD:713956881 H forkhead box N3 gene taxon:9606 20260707 ClinVar RGD 1313906 ETF1 HP:0001402 RGD:8554872 IAGP RGD:713929886 H eukaryotic translation termination factor 1 gene taxon:9606 20260707 ClinVar RGD 1313906 ETF1 HP:0003003 RGD:8554872 IAGP RGD:713929886 H eukaryotic translation termination factor 1 gene taxon:9606 20260519 ClinVar RGD 1313906 ETF1 HP:0006770 RGD:8554872 IAGP RGD:713880093 H eukaryotic translation termination factor 1 gene taxon:9606 20260519 ClinVar RGD 1313906 ETF1 HP:0006770 RGD:8554872 IAGP RGD:713929886 H eukaryotic translation termination factor 1 gene taxon:9606 20260707 ClinVar RGD 1313906 ETF1 HP:0012126 RGD:8554872 IAGP RGD:713929886 H eukaryotic translation termination factor 1 gene taxon:9606 20260707 ClinVar RGD 1313906 ETF1 HP:0100522 RGD:8554872 IAGP RGD:713782247 H eukaryotic translation termination factor 1 gene taxon:9606 20260519 ClinVar RGD 1313906 ETF1 HP:0100526 RGD:8554872 IAGP RGD:713460719 H eukaryotic translation termination factor 1 gene taxon:9606 20260519 ClinVar RGD 1313906 ETF1 HP:0100526 RGD:8554872 IAGP RGD:713879918 H eukaryotic translation termination factor 1 gene taxon:9606 20260519 ClinVar RGD 1313906 ETF1 HP:0100526 RGD:8554872 IAGP RGD:713879986 H eukaryotic translation termination factor 1 gene taxon:9606 20260519 ClinVar RGD 1313910 ZSWIM1 HP:0030153 RGD:8554872 IAGP RGD:713778671 H zinc finger SWIM-type containing 1 gene taxon:9606 20260519 ClinVar RGD 1313910 ZSWIM1 HP:0100242 RGD:8554872 IAGP RGD:713778671 H zinc finger SWIM-type containing 1 gene taxon:9606 20260519 ClinVar RGD 1313912 HAT1 HP:0002861 RGD:8554872 IAGP RGD:713736386 H histone acetyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313912 HAT1 HP:0004808 RGD:8554872 IAGP RGD:713784719 H histone acetyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313912 HAT1 HP:0011797 RGD:8554872 IAGP RGD:713388706 H histone acetyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313912 HAT1 HP:0012126 RGD:8554872 IAGP RGD:713500364 H histone acetyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313912 HAT1 HP:0100242 RGD:8554872 IAGP RGD:713736478 H histone acetyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313912 HAT1 HP:0100526 RGD:8554872 IAGP RGD:713736429 H histone acetyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313918 L3HYPDH HP:0001402 RGD:8554872 IAGP RGD:713353687 H trans-L-3-hydroxyproline dehydratase gene taxon:9606 20260519 ClinVar RGD 1313918 L3HYPDH HP:0001402 RGD:8554872 IAGP RGD:713353697 H trans-L-3-hydroxyproline dehydratase gene taxon:9606 20260519 ClinVar RGD 1313918 L3HYPDH HP:0006725 RGD:8554872 IAGP RGD:714215960 H trans-L-3-hydroxyproline dehydratase gene taxon:9606 20260519 ClinVar RGD 1313918 L3HYPDH HP:0100242 RGD:8554872 IAGP RGD:714215975 H trans-L-3-hydroxyproline dehydratase gene taxon:9606 20260519 ClinVar RGD 1313918 L3HYPDH HP:0100522 RGD:8554872 IAGP RGD:714215999 H trans-L-3-hydroxyproline dehydratase gene taxon:9606 20260519 ClinVar RGD 1313918 L3HYPDH HP:0100526 RGD:8554872 IAGP RGD:714215993 H trans-L-3-hydroxyproline dehydratase gene taxon:9606 20260519 ClinVar RGD 1313920 TMEM14C HP:0001402 RGD:8554872 IAGP RGD:714078071 H transmembrane protein 14C gene taxon:9606 20260519 ClinVar RGD 1313920 TMEM14C HP:0004808 RGD:8554872 IAGP RGD:713441913 H transmembrane protein 14C gene taxon:9606 20260519 ClinVar RGD 1313920 TMEM14C HP:0006770 RGD:8554872 IAGP RGD:713503169 H transmembrane protein 14C gene taxon:9606 20260519 ClinVar RGD 1313920 TMEM14C HP:0012126 RGD:8554872 IAGP RGD:713441926 H transmembrane protein 14C gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0000007 MIM:615471|PMID:23993193|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000023 MIM:615471|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000028 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27182039|PMID:28940506|PMID:31442532|PMID:31969900|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000047 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27182039|PMID:28940506|PMID:31969900|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000126 MIM:615471|PMID:31442532|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000126 PMID:25741868|RGD:8554872 IAGP RGD:408395111 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0000232 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0000238 MIM:615471|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000252 MIM:615471|PMID:23993193|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27743463|PMID:28940506|PMID:30804983|PMID:31969900|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:405291049 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0000252 RGD:8554872 IAGP RGD:38598887 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0000275 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0000286 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27182039|PMID:27290639|PMID:28940506|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000316 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27290639|PMID:28940506|PMID:32559514|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000319 MIM:615471|PMID:23993194|PMID:25868664|PMID:26404457|PMID:27099744|PMID:27182039|PMID:27290639|PMID:28940506|PMID:30804983|PMID:32779419|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000331 MIM:615471|PMID:27182039|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000336 MIM:615471|PMID:30804983|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000343 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27182039|PMID:27290639|PMID:28940506|PMID:30804983|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000347 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27290639|PMID:28940506|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000365 MIM:615471|PMID:23993194|PMID:25868664|PMID:27182039|PMID:27743463|PMID:28940506|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000369 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27290639|PMID:28940506|PMID:31969900|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000411 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0000431 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27182039|PMID:27290639|PMID:28940506|PMID:32559514|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000486 MIM:615471|PMID:23993194|PMID:25868664|PMID:27182039|PMID:28940506|PMID:30804983|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000494 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0000508 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27182039|PMID:27290639|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000518 MIM:615471|PMID:23993193|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000527 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27290639|PMID:28940506|PMID:30804983|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000574 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27182039|PMID:27290639|PMID:28940506|PMID:30804983|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000639 MIM:615471|PMID:23993194|PMID:25868664|PMID:27182039|PMID:27743463|PMID:28940506|PMID:30804983|PMID:31969900|PMID:32779419|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000648 MIM:615471|PMID:23993194|PMID:25868664|PMID:28940506|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000664 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27290639|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0000707 PMID:23993194|PMID:25741868|PMID:25868664|PMID:27743463|RGD:8554872 IAGP RGD:8573562 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0000750 PMID:23993194|PMID:25741868|PMID:25868664|PMID:27743463|RGD:8554872 IAGP RGD:8573562 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0000750 RGD:8554872 IAGP RGD:38598887 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001249 PMID:23993194|PMID:25741868|PMID:25868664|PMID:27743463|RGD:8554872 IAGP RGD:8573562 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001250 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27743463|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001250 PMID:23993194|PMID:25741868|PMID:25868664|PMID:27743463|RGD:8554872 IAGP RGD:8573562 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001250 PMID:25741868|PMID:27182039|PMID:27182309|RGD:8554872 IAGP RGD:11345015 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:405291049 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001251 MIM:615471|PMID:23993194|PMID:25868664|PMID:27290639|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001252 MIM:615471|PMID:23993193|PMID:23993194|PMID:25868664|PMID:26404457|PMID:27099744|PMID:27182039|PMID:27743463|PMID:28940506|PMID:30771478|PMID:30804983|PMID:31969900|PMID:32559514|PMID:32779419|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001252 PMID:25741868|PMID:27182039|PMID:27182309|RGD:8554872 IAGP RGD:11345015 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001257 PMID:23993194|PMID:25741868|PMID:25868664|PMID:27743463|RGD:8554872 IAGP RGD:8573562 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001263 MIM:615471|PMID:23993193|PMID:27182039|PMID:27743463|PMID:28940506|PMID:30771478|PMID:31442532|PMID:31969900|PMID:32559514|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001263 PMID:23993194|PMID:25741868|PMID:25868664|PMID:27743463|RGD:8554872 IAGP RGD:8573562 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001263 PMID:25741868|PMID:27182039|PMID:27182309|RGD:8554872 IAGP RGD:11345015 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001266 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0001270 RGD:8554872 IAGP RGD:38598887 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001272 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:28940506|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001298 MIM:615471|PMID:31969900|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001298 PMID:23993193|PMID:23993194|PMID:25741868|PMID:25868664|PMID:28492532|RGD:8554872 IAGP RGD:15040503 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001300 RGD:8554872 IAGP RGD:40887691 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001321 MIM:615471|PMID:31442532|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001332 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0001347 MIM:615471|PMID:27182039|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001357 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0001508 MIM:615471|PMID:23993194|PMID:25868664|PMID:26404457|PMID:27743463|PMID:28940506|PMID:30804983|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001510 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0001511 PMID:25741868|RGD:8554872 IAGP RGD:408395111 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001518 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27290639|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001537 MIM:615471|PMID:27182039|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001537 PMID:23993193|PMID:23993194|PMID:25741868|PMID:25868664|PMID:28492532|RGD:8554872 IAGP RGD:13215633 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001537 PMID:25741868|PMID:25868664|PMID:28492532|PMID:28940506|PMID:34056100|RGD:8554872 IAGP RGD:12913546 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001622 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27290639|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001631 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27743463|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001636 MIM:615471|PMID:27743463|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001639 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:28940506|PMID:31442532|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001643 MIM:615471|PMID:27743463|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001655 MIM:615471|PMID:27743463|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001655 PMID:23993193|PMID:23993194|PMID:25868664|PMID:28492532|PMID:29565416|RGD:8554872 IAGP RGD:13531483 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001667 MIM:615471|PMID:27743463|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001712 MIM:615471|PMID:27743463|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001712 PMID:25741868|RGD:8554872 IAGP RGD:405291049 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001773 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0001875 MIM:615471|PMID:23993194|PMID:25868664|PMID:26404457|PMID:27099744|PMID:28940506|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001888 MIM:615471|PMID:26404457|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001903 MIM:615471|PMID:30804983|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001942 MIM:615471|PMID:26404457|PMID:27182039|PMID:31969900|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001943 PMID:23993194|PMID:25741868|PMID:25868664|PMID:27743463|RGD:8554872 IAGP RGD:8573562 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001947 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0001987 MIM:615471|PMID:23993193|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27743463|PMID:28940506|PMID:30771478|PMID:30804983|PMID:31969900|PMID:32559514|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0001987 PMID:23993194|PMID:25741868|PMID:25868664|PMID:27743463|RGD:8554872 IAGP RGD:8573562 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001987 PMID:25741868|RGD:8554872 IAGP RGD:405291049 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:405291049 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0002007 MIM:615471|PMID:30804983|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002013 MIM:615471|PMID:27182039|PMID:31969900|PMID:32559514|PMID:32779419|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002015 MIM:615471|PMID:30804983|PMID:31969900|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002020 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0002059 MIM:615471|PMID:23993193|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27182039|PMID:27743463|PMID:28940506|PMID:32779419|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002059 PMID:25741868|PMID:27182039|PMID:27182309|RGD:8554872 IAGP RGD:11345015 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0002079 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0002092 MIM:615471|PMID:23993194|PMID:25868664|PMID:26404457|PMID:27099744|PMID:27743463|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002119 MIM:615471|PMID:23993193|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27182039|PMID:28940506|PMID:30771478|PMID:30804983|PMID:32779419|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002126 MIM:615471|PMID:31442532|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002151 MIM:615471|PMID:23993193|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27182039|PMID:27290639|PMID:27743463|PMID:28940506|PMID:30771478|PMID:30804983|PMID:31442532|PMID:31969900|PMID:32559514|PMID:32779419|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002188 MIM:615471|PMID:23993193|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002240 MIM:615471|PMID:27182039|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002280 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:28940506|PMID:31969900|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002283 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27182039|PMID:27290639|PMID:30804983|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002384 MIM:615471|PMID:25868664|PMID:27182039|PMID:27743463|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002415 MIM:615471|PMID:27743463|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002421 MIM:615471|PMID:27182039|PMID:30804983|PMID:32559514|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002487 MIM:615471|PMID:27182039|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002518 PMID:23993194|PMID:25741868|PMID:25868664|PMID:27743463|RGD:8554872 IAGP RGD:8573562 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0002650 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0002719 MIM:615471|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0002910 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20240404 HPO RGD 1313923 FBXL4 HP:0003128 MIM:615471|PMID:23993193|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0003128 PMID:23993194|PMID:25741868|PMID:25868664|PMID:27743463|RGD:8554872 IAGP RGD:8573562 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0003128 PMID:25741868|PMID:27182039|PMID:27182309|RGD:8554872 IAGP RGD:11345015 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0003128 PMID:25741868|RGD:8554872 IAGP RGD:405291049 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0003128 PMID:25741868|RGD:8554872 IAGP RGD:408395111 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0003202 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0003244 PMID:25741868|RGD:8554872 IAGP RGD:408395111 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0003348 MIM:615471|PMID:26404457|PMID:27182039|PMID:31969900|PMID:32779419|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0003429 MIM:615471|PMID:26404457|PMID:27182039|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0003487 MIM:615471|PMID:27182039|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0003535 MIM:615471|PMID:31442532|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0003593 MIM:615471|PMID:23993194|PMID:25868664|PMID:27743463|PMID:28940506|PMID:30804983|PMID:32559514|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0003621 MIM:615471|PMID:27290639|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0003623 MIM:615471|PMID:23993194|PMID:25868664|PMID:26404457|PMID:27099744|PMID:27182039|PMID:27290639|PMID:27743463|PMID:28940506|PMID:31969900|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0003648 MIM:615471|PMID:26404457|PMID:27182039|PMID:30771478|PMID:32559514|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0003688 MIM:615471|PMID:26404457|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0004313 MIM:615471|PMID:26404457|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0004322 MIM:615471|PMID:23993194|PMID:25868664|PMID:27743463|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0004755 MIM:615471|PMID:27743463|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0005487 MIM:615471|PMID:27182039|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0007109 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0007109 PMID:25741868|RGD:8554872 IAGP RGD:408395111 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0007663 MIM:615471|PMID:23993194|PMID:25868664|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0008314 MIM:615471|PMID:23993194|PMID:25868664|PMID:27290639|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0008347 MIM:615471|PMID:23993193|PMID:23993194|PMID:25868664|PMID:27290639|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0010602 MIM:615471|PMID:23993193|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0011120 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0011220 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:27182039|PMID:27290639|PMID:28940506|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0011344 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0011427 MIM:615471|PMID:31969900|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0011463 MIM:615471|PMID:25868664|PMID:27743463|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0011675 MIM:615471|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20230821 HPO RGD 1313923 FBXL4 HP:0011923 MIM:615471|PMID:23993193|PMID:23993194|PMID:25868664|PMID:27290639|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0011924 MIM:615471|PMID:23993193|PMID:23993194|PMID:25868664|PMID:27290639|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0011925 MIM:615471|PMID:25868664|PMID:27290639|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0011968 MIM:615471|PMID:23993194|PMID:25868664|PMID:26404457|PMID:27182039|PMID:28940506|PMID:30804983|PMID:32559514|PMID:32779419|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0011968 PMID:25741868|PMID:27182039|PMID:27182309|RGD:8554872 IAGP RGD:11345015 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0012043 PMID:25741868|RGD:8554872 IAGP RGD:405291049 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0012443 PMID:25741868|PMID:25868664|PMID:27743463|PMID:28492532|RGD:8554872 IAGP RGD:13212953 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0012469 MIM:615471|PMID:27743463|PMID:28940506|PMID:31969900|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0012707 MIM:615471|PMID:26404457|PMID:27182039|PMID:28940506|PMID:32779419|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0012745 MIM:615471|PMID:23993194|PMID:25868664|PMID:26404457|PMID:27099744|PMID:27182039|PMID:27290639|PMID:28940506|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0025190 MIM:615471|PMID:23993194|PMID:28940506|PMID:30771478|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0030059 MIM:615471|PMID:23993194|PMID:25868664|PMID:27290639|PMID:28940506|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0030359 PMID:25741868|PMID:27743463|RGD:8554872 IAGP RGD:13215799 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0030674 MIM:615471|PMID:27743463|PMID:30771478|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0033725 MIM:615471|PMID:23993194|PMID:25868664|PMID:27099744|PMID:28940506|PMID:32779419|PMID:34602956|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0034648 MIM:615471|PMID:32779419|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0040155 MIM:615471|PMID:32559514|RGD:8699517 IAGP H F-box and leucine rich repeat protein 4 gene taxon:9606 20250912 HPO RGD 1313923 FBXL4 HP:0100242 RGD:8554872 IAGP RGD:713569978 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0100526 RGD:8554872 IAGP RGD:713491634 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0100543 PMID:23993194|PMID:25741868|PMID:25868664|PMID:27743463|RGD:8554872 IAGP RGD:8573562 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313923 FBXL4 HP:0100615 RGD:8554872 IAGP RGD:713491685 H F-box and leucine rich repeat protein 4 gene taxon:9606 20260519 ClinVar RGD 1313925 VSTM2L HP:0100526 RGD:8554872 IAGP RGD:713963896 H V-set and transmembrane domain containing 2 like gene taxon:9606 20260519 ClinVar RGD 1313927 TUBGCP3 HP:0001402 RGD:8554872 IAGP RGD:714158320 H tubulin gamma complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313927 TUBGCP3 HP:0012126 RGD:8554872 IAGP RGD:713800528 H tubulin gamma complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313927 TUBGCP3 HP:0030359 RGD:8554872 IAGP RGD:713820436 H tubulin gamma complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313927 TUBGCP3 HP:0100242 RGD:8554872 IAGP RGD:713853709 H tubulin gamma complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313927 TUBGCP3 HP:0100526 RGD:8554872 IAGP RGD:713853673 H tubulin gamma complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313927 TUBGCP3 HP:0100526 RGD:8554872 IAGP RGD:713853759 H tubulin gamma complex component 3 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0001402 RGD:8554872 IAGP RGD:714190983 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0002665 RGD:8554872 IAGP RGD:714190983 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0002861 RGD:8554872 IAGP RGD:713903388 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0002861 RGD:8554872 IAGP RGD:713903411 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0002861 RGD:8554872 IAGP RGD:714190983 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0004808 RGD:8554872 IAGP RGD:714190983 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0004808 RGD:8554872 IAGP RGD:714264715 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0004808 RGD:8554872 IAGP RGD:714265978 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0006770 RGD:8554872 IAGP RGD:713903304 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0006770 RGD:8554872 IAGP RGD:713903400 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0006770 RGD:8554872 IAGP RGD:713903622 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0006770 RGD:8554872 IAGP RGD:714190983 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0006770 RGD:8554872 IAGP RGD:714264715 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0007716 RGD:8554872 IAGP RGD:714190983 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0012126 RGD:8554872 IAGP RGD:714190983 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0012126 RGD:8554872 IAGP RGD:714264708 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0012126 RGD:8554872 IAGP RGD:714264735 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0012126 RGD:8554872 IAGP RGD:714271739 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0012126 RGD:8554872 IAGP RGD:714271754 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0012126 RGD:8554872 IAGP RGD:714271759 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0030153 RGD:8554872 IAGP RGD:714190983 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0100242 RGD:8554872 IAGP RGD:713903476 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0100242 RGD:8554872 IAGP RGD:714190983 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0100242 RGD:8554872 IAGP RGD:714264715 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0100522 RGD:8554872 IAGP RGD:714190983 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0100526 RGD:8554872 IAGP RGD:713903448 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0100526 RGD:8554872 IAGP RGD:713903633 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313930 MKNK2 HP:0100526 RGD:8554872 IAGP RGD:714190983 H MAPK interacting serine/threonine kinase 2 gene taxon:9606 20260519 ClinVar RGD 1313932 LRP8 HP:0001402 RGD:8554872 IAGP RGD:713367822 H LDL receptor related protein 8 gene taxon:9606 20260519 ClinVar RGD 1313932 LRP8 HP:0006725 RGD:8554872 IAGP RGD:713694737 H LDL receptor related protein 8 gene taxon:9606 20260519 ClinVar RGD 1313932 LRP8 HP:0006770 RGD:8554872 IAGP RGD:713694059 H LDL receptor related protein 8 gene taxon:9606 20260519 ClinVar RGD 1313932 LRP8 HP:0012126 RGD:8554872 IAGP RGD:713772928 H LDL receptor related protein 8 gene taxon:9606 20260519 ClinVar RGD 1313932 LRP8 HP:0012126 RGD:8554872 IAGP RGD:713773069 H LDL receptor related protein 8 gene taxon:9606 20260519 ClinVar RGD 1313932 LRP8 HP:0100242 RGD:8554872 IAGP RGD:713693843 H LDL receptor related protein 8 gene taxon:9606 20260519 ClinVar RGD 1313932 LRP8 HP:0100543 RGD:6483059|PMID:22419519 IAGP H LDL receptor related protein 8 gene taxon:9606 20190724 RGD RGD 1313932 LRP8 HP:0100753 RGD:6483059|PMID:22419519 IAGP H LDL receptor related protein 8 gene taxon:9606 20190724 RGD RGD 1313935 PHF12 HP:0001402 RGD:8554872 IAGP RGD:713357781 H PHD finger protein 12 gene taxon:9606 20260519 ClinVar RGD 1313935 PHF12 HP:0002861 RGD:8554872 IAGP RGD:713667432 H PHD finger protein 12 gene taxon:9606 20260519 ClinVar RGD 1313935 PHF12 HP:0002861 RGD:8554872 IAGP RGD:714173124 H PHD finger protein 12 gene taxon:9606 20260519 ClinVar RGD 1313935 PHF12 HP:0004808 RGD:8554872 IAGP RGD:713667432 H PHD finger protein 12 gene taxon:9606 20260519 ClinVar RGD 1313935 PHF12 HP:0004808 RGD:8554872 IAGP RGD:713673505 H PHD finger protein 12 gene taxon:9606 20260519 ClinVar RGD 1313935 PHF12 HP:0006770 RGD:8554872 IAGP RGD:714173130 H PHD finger protein 12 gene taxon:9606 20260519 ClinVar RGD 1313935 PHF12 HP:0012126 RGD:8554872 IAGP RGD:713667432 H PHD finger protein 12 gene taxon:9606 20260519 ClinVar RGD 1313935 PHF12 HP:0100242 RGD:8554872 IAGP RGD:713667432 H PHD finger protein 12 gene taxon:9606 20260519 ClinVar RGD 1313935 PHF12 HP:0100522 RGD:8554872 IAGP RGD:713667432 H PHD finger protein 12 gene taxon:9606 20260519 ClinVar RGD 1313935 PHF12 HP:0100522 RGD:8554872 IAGP RGD:714173145 H PHD finger protein 12 gene taxon:9606 20260519 ClinVar RGD 1313935 PHF12 HP:0100526 RGD:8554872 IAGP RGD:713667432 H PHD finger protein 12 gene taxon:9606 20260519 ClinVar RGD 1313937 LIMS1 HP:0001402 RGD:8554872 IAGP RGD:713743002 H LIM zinc finger domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313937 LIMS1 HP:0001402 RGD:8554872 IAGP RGD:713743022 H LIM zinc finger domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313937 LIMS1 HP:0001402 RGD:8554872 IAGP RGD:713743051 H LIM zinc finger domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313937 LIMS1 HP:0001402 RGD:8554872 IAGP RGD:713743071 H LIM zinc finger domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313937 LIMS1 HP:0001402 RGD:8554872 IAGP RGD:714262228 H LIM zinc finger domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313937 LIMS1 HP:0003003 RGD:8554872 IAGP RGD:713702199 H LIM zinc finger domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313937 LIMS1 HP:0004808 RGD:8554872 IAGP RGD:713366485 H LIM zinc finger domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313937 LIMS1 HP:0006770 RGD:8554872 IAGP RGD:713702199 H LIM zinc finger domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313937 LIMS1 HP:0030153 RGD:8554872 IAGP RGD:713702199 H LIM zinc finger domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313937 LIMS1 HP:0100242 RGD:8554872 IAGP RGD:713702199 H LIM zinc finger domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313937 LIMS1 HP:0100522 RGD:8554872 IAGP RGD:713366485 H LIM zinc finger domain containing 1 gene taxon:9606 20260519 ClinVar RGD 1313940 ILF2 HP:0001402 RGD:8554872 IAGP RGD:713750308 H interleukin enhancer binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1313940 ILF2 HP:0001402 RGD:8554872 IAGP RGD:713750347 H interleukin enhancer binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1313940 ILF2 HP:0001402 RGD:8554872 IAGP RGD:714264351 H interleukin enhancer binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1313940 ILF2 HP:0004808 RGD:8554872 IAGP RGD:714043805 H interleukin enhancer binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1313940 ILF2 HP:0006770 RGD:8554872 IAGP RGD:714192975 H interleukin enhancer binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1313940 ILF2 HP:0006770 RGD:8554872 IAGP RGD:714193215 H interleukin enhancer binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1313940 ILF2 HP:0006770 RGD:8554872 IAGP RGD:714193262 H interleukin enhancer binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1313940 ILF2 HP:0011797 RGD:8554872 IAGP RGD:714051231 H interleukin enhancer binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1313940 ILF2 HP:0012126 RGD:8554872 IAGP RGD:713526716 H interleukin enhancer binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1313940 ILF2 HP:0100522 RGD:8554872 IAGP RGD:714264372 H interleukin enhancer binding factor 2 gene taxon:9606 20260519 ClinVar RGD 1313942 GRHL1 HP:0001402 RGD:8554872 IAGP RGD:714261873 H grainyhead like transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1313942 GRHL1 HP:0006770 RGD:8554872 IAGP RGD:714231463 H grainyhead like transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1313942 GRHL1 HP:0011797 RGD:8554872 IAGP RGD:713369504 H grainyhead like transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1313942 GRHL1 HP:0012126 RGD:8554872 IAGP RGD:713618167 H grainyhead like transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1313942 GRHL1 HP:0012126 RGD:8554872 IAGP RGD:713618181 H grainyhead like transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1313942 GRHL1 HP:0030359 RGD:8554872 IAGP RGD:714229617 H grainyhead like transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1313942 GRHL1 HP:0030359 RGD:8554872 IAGP RGD:714230310 H grainyhead like transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1313942 GRHL1 HP:0030359 RGD:8554872 IAGP RGD:714231596 H grainyhead like transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1313942 GRHL1 HP:0100522 RGD:8554872 IAGP RGD:714229410 H grainyhead like transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1313942 GRHL1 HP:0100526 RGD:8554872 IAGP RGD:714232485 H grainyhead like transcription factor 1 gene taxon:9606 20260519 ClinVar RGD 1313944 PRXL2C HP:0100522 RGD:8554872 IAGP RGD:714258562 H peroxiredoxin like 2C gene taxon:9606 20260707 ClinVar RGD 1313946 UPF1 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38459367 H UPF1 RNA helicase and ATPase gene taxon:9606 20210323 ClinVar RGD 1313946 UPF1 HP:0002007 PMID:25741868|RGD:8554872 IAGP RGD:598122720 H UPF1 RNA helicase and ATPase gene taxon:9606 20260519 ClinVar RGD 1313946 UPF1 HP:0002007 PMID:25741868|RGD:8554872 IAGP RGD:598122721 H UPF1 RNA helicase and ATPase gene taxon:9606 20260519 ClinVar RGD 1313946 UPF1 HP:0002861 RGD:8554872 IAGP RGD:713899496 H UPF1 RNA helicase and ATPase gene taxon:9606 20260519 ClinVar RGD 1313946 UPF1 HP:0002861 RGD:8554872 IAGP RGD:713899549 H UPF1 RNA helicase and ATPase gene taxon:9606 20260519 ClinVar RGD 1313946 UPF1 HP:0002861 RGD:8554872 IAGP RGD:713899610 H UPF1 RNA helicase and ATPase gene taxon:9606 20260519 ClinVar RGD 1313946 UPF1 HP:0004808 RGD:8554872 IAGP RGD:714190765 H UPF1 RNA helicase and ATPase gene taxon:9606 20260519 ClinVar RGD 1313946 UPF1 HP:0006770 RGD:8554872 IAGP RGD:713899624 H UPF1 RNA helicase and ATPase gene taxon:9606 20260519 ClinVar RGD 1313946 UPF1 HP:0007018 PMID:25741868|RGD:8554872 IAGP RGD:401720101 H UPF1 RNA helicase and ATPase gene taxon:9606 20260519 ClinVar RGD 1313946 UPF1 HP:0012126 RGD:8554872 IAGP RGD:713925487 H UPF1 RNA helicase and ATPase gene taxon:9606 20260519 ClinVar RGD 1313946 UPF1 HP:0012126 RGD:8554872 IAGP RGD:714271530 H UPF1 RNA helicase and ATPase gene taxon:9606 20260519 ClinVar RGD 1313946 UPF1 HP:0100242 RGD:8554872 IAGP RGD:714271534 H UPF1 RNA helicase and ATPase gene taxon:9606 20260707 ClinVar RGD 1313949 ADAM23 HP:0001402 RGD:8554872 IAGP RGD:713744663 H ADAM metallopeptidase domain 23 gene taxon:9606 20260519 ClinVar RGD 1313949 ADAM23 HP:0001402 RGD:8554872 IAGP RGD:714263062 H ADAM metallopeptidase domain 23 gene taxon:9606 20260519 ClinVar RGD 1313949 ADAM23 HP:0002861 RGD:8554872 IAGP RGD:713814195 H ADAM metallopeptidase domain 23 gene taxon:9606 20260519 ClinVar RGD 1313949 ADAM23 HP:0004808 RGD:8554872 IAGP RGD:713384737 H ADAM metallopeptidase domain 23 gene taxon:9606 20260519 ClinVar RGD 1313949 ADAM23 HP:0007716 RGD:8554872 IAGP RGD:713798300 H ADAM metallopeptidase domain 23 gene taxon:9606 20260519 ClinVar RGD 1313949 ADAM23 HP:0012126 RGD:8554872 IAGP RGD:713506718 H ADAM metallopeptidase domain 23 gene taxon:9606 20260707 ClinVar RGD 1313949 ADAM23 HP:0012126 RGD:8554872 IAGP RGD:713506739 H ADAM metallopeptidase domain 23 gene taxon:9606 20260519 ClinVar RGD 1313949 ADAM23 HP:0012126 RGD:8554872 IAGP RGD:713506757 H ADAM metallopeptidase domain 23 gene taxon:9606 20260519 ClinVar RGD 1313949 ADAM23 HP:0100522 RGD:8554872 IAGP RGD:713506718 H ADAM metallopeptidase domain 23 gene taxon:9606 20260519 ClinVar RGD 1313951 CYBRD1 HP:0001402 RGD:8554872 IAGP RGD:713947358 H cytochrome b reductase 1 gene taxon:9606 20260519 ClinVar RGD 1313951 CYBRD1 HP:0004808 RGD:8554872 IAGP RGD:713785000 H cytochrome b reductase 1 gene taxon:9606 20260519 ClinVar RGD 1313951 CYBRD1 HP:0006770 RGD:8554872 IAGP RGD:713735807 H cytochrome b reductase 1 gene taxon:9606 20260519 ClinVar RGD 1313951 CYBRD1 HP:0012126 RGD:8554872 IAGP RGD:713947358 H cytochrome b reductase 1 gene taxon:9606 20260519 ClinVar RGD 1313951 CYBRD1 HP:0100242 RGD:8554872 IAGP RGD:713735914 H cytochrome b reductase 1 gene taxon:9606 20260519 ClinVar RGD 1313951 CYBRD1 HP:0100526 RGD:8554872 IAGP RGD:713947358 H cytochrome b reductase 1 gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0000006 MIM:604454|MIM:619133|PMID:23348830|PMID:28817800|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0000007 MIM:604454|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20230821 HPO RGD 1313955 TIA1 HP:0000118 PMID:28492532|RGD:8554872 IAGP RGD:156101135 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0000751 MIM:619133|PMID:28817800|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0001283 MIM:619133|PMID:28817800|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0001288 ORPHA:603|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20240815 HPO RGD 1313955 TIA1 HP:0001638 ORPHA:603|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20230821 HPO RGD 1313955 TIA1 HP:0002145 MIM:619133|PMID:28817800|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0002312 ORPHA:603|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20230821 HPO RGD 1313955 TIA1 HP:0002354 MIM:619133|PMID:28817800|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0002381 MIM:619133|PMID:28817800|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0002460 MIM:604454|PMID:23348830|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0002665 RGD:8554872 IAGP RGD:150521012 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0002861 RGD:8554872 IAGP RGD:713669897 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0003198 ORPHA:603|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20230821 HPO RGD 1313955 TIA1 HP:0003376 MIM:604454|ORPHA:603|PMID:23348830|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0003458 ORPHA:603|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20230821 HPO RGD 1313955 TIA1 HP:0003581 MIM:604454|PMID:23348830|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0003584 MIM:619133|PMID:28817800|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0003596 MIM:619133|PMID:28817800|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0003677 MIM:604454|PMID:23348830|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0003690 MIM:619133|PMID:28817800|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0003693 MIM:604454|PMID:23348830|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0003805 MIM:604454|ORPHA:603|PMID:23348830|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0006770 RGD:8554872 IAGP RGD:713669778 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0006770 RGD:8554872 IAGP RGD:713669809 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0006770 RGD:8554872 IAGP RGD:713669836 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0006770 RGD:8554872 IAGP RGD:713669849 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0007149 ORPHA:603|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20230821 HPO RGD 1313955 TIA1 HP:0007354 MIM:619133|PMID:28817800|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0008180 MIM:604454|ORPHA:603|PMID:23348830|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0008954 ORPHA:603|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20230821 HPO RGD 1313955 TIA1 HP:0008959 ORPHA:603|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20230821 HPO RGD 1313955 TIA1 HP:0009027 ORPHA:603|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20230821 HPO RGD 1313955 TIA1 HP:0009077 ORPHA:603|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20230821 HPO RGD 1313955 TIA1 HP:0011462 MIM:619133|PMID:28817800|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0011797 RGD:8554872 IAGP RGD:713793253 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0012126 RGD:8554872 IAGP RGD:150463822 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0012126 RGD:8554872 IAGP RGD:150501310 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0012126 RGD:8554872 IAGP RGD:713520883 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0012126 RGD:8554872 IAGP RGD:713520899 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0012126 RGD:8554872 IAGP RGD:713520915 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0012126 RGD:8554872 IAGP RGD:713520930 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0012126 RGD:8554872 IAGP RGD:713927932 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0030153 PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:13484010 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260707 ClinVar RGD 1313955 TIA1 HP:0030153 PMID:28492532|RGD:8554872 IAGP RGD:152053508 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0030359 PMID:28492532|RGD:8554872 IAGP RGD:597959198 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0100242 RGD:8554872 IAGP RGD:150521012 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0100242 RGD:8554872 IAGP RGD:713669758 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313955 TIA1 HP:0100315 MIM:619133|PMID:28817800|RGD:8699517 IAGP H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20250912 HPO RGD 1313955 TIA1 HP:0100615 RGD:8554872 IAGP RGD:150521012 H TIA1 cytotoxic granule associated RNA binding protein gene taxon:9606 20260519 ClinVar RGD 1313957 RCOR1 HP:0002861 RGD:8554872 IAGP RGD:714200642 H REST corepressor 1 gene taxon:9606 20260519 ClinVar RGD 1313957 RCOR1 HP:0004808 RGD:8554872 IAGP RGD:713661097 H REST corepressor 1 gene taxon:9606 20260707 ClinVar RGD 1313957 RCOR1 HP:0004808 RGD:8554872 IAGP RGD:713661107 H REST corepressor 1 gene taxon:9606 20260519 ClinVar RGD 1313957 RCOR1 HP:0004808 RGD:8554872 IAGP RGD:714161687 H REST corepressor 1 gene taxon:9606 20260519 ClinVar RGD 1313957 RCOR1 HP:0100242 RGD:8554872 IAGP RGD:713661097 H REST corepressor 1 gene taxon:9606 20260519 ClinVar RGD 1313957 RCOR1 HP:0100526 RGD:8554872 IAGP RGD:714200634 H REST corepressor 1 gene taxon:9606 20260519 ClinVar RGD 1313960 STAC HP:0002861 RGD:8554872 IAGP RGD:713804470 H SH3 and cysteine rich domain gene taxon:9606 20260519 ClinVar RGD 1313960 STAC HP:0006770 RGD:8554872 IAGP RGD:713804428 H SH3 and cysteine rich domain gene taxon:9606 20260519 ClinVar RGD 1313960 STAC HP:0030153 RGD:8554872 IAGP RGD:713470263 H SH3 and cysteine rich domain gene taxon:9606 20260519 ClinVar RGD 1313960 STAC HP:0030153 RGD:8554872 IAGP RGD:713567194 H SH3 and cysteine rich domain gene taxon:9606 20260519 ClinVar RGD 1313960 STAC HP:0100242 RGD:8554872 IAGP RGD:713804442 H SH3 and cysteine rich domain gene taxon:9606 20260519 ClinVar RGD 1313962 DPEP2 HP:0100242 RGD:8554872 IAGP RGD:713984436 H dipeptidase 2 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0000006 MIM:620443|PMID:37256972|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250912 HPO RGD 1313964 STAT4 HP:0000031 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0000047 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0000079 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000083 ORPHA:117|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0000093 ORPHA:536|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0000099 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0000100 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000123 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000155 MIM:620443|ORPHA:117|ORPHA:536|ORPHA:93552|PMID:37256972|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250912 HPO RGD 1313964 STAT4 HP:0000155 RGD:5147916|PMID:21719445 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190808 RGD RGD 1313964 STAT4 HP:0000163 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126748830 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0000488 ORPHA:117|ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0000501 ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000518 ORPHA:117|ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0000518 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0000554 ORPHA:85408|ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0000572 ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000585 ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000613 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000618 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000707 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000707 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126748830 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0000708 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000709 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000716 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000718 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126748830 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0000722 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126748830 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0000737 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000739 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126748830 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0000790 ORPHA:536|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0000822 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000938 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0000951 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000953 PMID:25741868|RGD:8554872 IAGP RGD:243063854 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0000969 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000987 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0000988 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0000992 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001058 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0001061 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001094 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001097 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001155 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001250 ORPHA:117|ORPHA:536|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0001251 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001269 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001287 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001288 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001289 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001324 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001347 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001369 ORPHA:117|ORPHA:536|ORPHA:85408|ORPHA:85410|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0001370 ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001370 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0001371 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001371 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0001382 ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001384 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001386 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001386 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0001387 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001402 RGD:8554872 IAGP RGD:713504023 H signal transducer and activator of transcription 4 gene taxon:9606 20260707 ClinVar RGD 1313964 STAT4 HP:0001433 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001482 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001508 ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001530 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001541 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001596 ORPHA:536|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0001637 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001653 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001658 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001659 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001698 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001701 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001732 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126748830 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0001733 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001744 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001785 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001824 ORPHA:117|ORPHA:536|ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0001832 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001873 ORPHA:536|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0001875 MIM:620443|PMID:37256972|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250912 HPO RGD 1313964 STAT4 HP:0001878 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001882 ORPHA:536|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0001888 MIM:620443|ORPHA:93552|PMID:37256972|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250912 HPO RGD 1313964 STAT4 HP:0001903 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001937 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0001945 ORPHA:117|ORPHA:536|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0001954 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0001954 PMID:25741868|RGD:8554872 IAGP RGD:243063854 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0002013 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002014 ORPHA:117|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0002014 PMID:25741868|RGD:8554872 IAGP RGD:243063854 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0002017 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002024 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002027 ORPHA:117|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0002039 ORPHA:117|ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0002072 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002076 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002086 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002094 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002102 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002105 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002113 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002202 ORPHA:117|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0002204 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002239 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002301 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002315 ORPHA:117|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0002321 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002354 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002376 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002383 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002463 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002516 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002540 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0002633 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002637 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002638 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0002716 ORPHA:117|ORPHA:536|ORPHA:85408|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0002719 MIM:620443|PMID:37256972|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250912 HPO RGD 1313964 STAT4 HP:0002719 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126748830 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0002721 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126748830 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0002725 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0002725 RGD:7207869|PMID:22729903 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190820 RGD RGD 1313964 STAT4 HP:0002725 RGD:7207878|PMID:20479942 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190820 RGD RGD 1313964 STAT4 HP:0002725 RGD:7207879|PMID:18803832 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190820 RGD RGD 1313964 STAT4 HP:0002725 RGD:7207881|PMID:18516230 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190820 RGD RGD 1313964 STAT4 HP:0002829 ORPHA:117|ORPHA:85408|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0002861 RGD:8554872 IAGP RGD:713576114 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0002960 ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0003019 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0003028 ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0003043 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0003121 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0003249 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0003270 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0003270 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0003319 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0003326 ORPHA:117|ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0003401 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0003453 ORPHA:536|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0003493 ORPHA:536|ORPHA:85408|ORPHA:85410|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0003565 ORPHA:117|ORPHA:85408|ORPHA:85410|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0003613 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0003761 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0004372 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0004420 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0004936 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0005086 ORPHA:85408|ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0005186 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0005421 ORPHA:536|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0005585 PMID:25741868|RGD:8554872 IAGP RGD:243063854 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0005764 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0006739 MIM:620443|PMID:37256972|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250912 HPO RGD 1313964 STAT4 HP:0006770 RGD:8554872 IAGP RGD:713575971 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0006824 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0007256 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0007302 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126748830 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0007400 PMID:25741868|RGD:8554872 IAGP RGD:243063854 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0007417 ORPHA:536|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0007521 PMID:25741868|RGD:8554872 IAGP RGD:243063854 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0007663 ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0007813 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0007833 ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0008066 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0008843 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0008850 ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0010754 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0010766 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0010885 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0011024 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0011107 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0011117 ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240404 HPO RGD 1313964 STAT4 HP:0011123 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0011134 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0011227 MIM:620443|ORPHA:117|PMID:37256972|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250912 HPO RGD 1313964 STAT4 HP:0011463 MIM:620443|PMID:37256972|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250912 HPO RGD 1313964 STAT4 HP:0011797 RGD:8554872 IAGP RGD:713383320 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0011911 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0012085 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0012121 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0012126 RGD:8554872 IAGP RGD:713504023 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0012126 RGD:8554872 IAGP RGD:713504050 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0012219 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0012344 MIM:620443|PMID:37256972|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250912 HPO RGD 1313964 STAT4 HP:0012344 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0012378 ORPHA:117|ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0012532 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0012649 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0012819 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0020151 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0025300 ORPHA:536|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0025343 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0025435 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0025502 PMID:25741868|RGD:8554872 IAGP RGD:243063854 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0025532 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0030153 PMID:28492532|RGD:8554872 IAGP RGD:152121503 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0030153 RGD:8554872 IAGP RGD:713504023 H signal transducer and activator of transcription 4 gene taxon:9606 20260707 ClinVar RGD 1313964 STAT4 HP:0030356 ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0030359 RGD:8554872 IAGP RGD:713576089 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0030880 ORPHA:536|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0032235 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0033028 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0033040 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240118 HPO RGD 1313964 STAT4 HP:0033430 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0033556 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0033726 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0033834 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240118 HPO RGD 1313964 STAT4 HP:0034076 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0034077 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0034093 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0034096 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0034392 MIM:620443|PMID:37256972|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250912 HPO RGD 1313964 STAT4 HP:0040313 ORPHA:85408|ORPHA:85410|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0040319 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0045042 ORPHA:536|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0045073 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0100242 RGD:8554872 IAGP RGD:713575989 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0100324 PMID:25741868|RGD:8554872 IAGP RGD:401724575 H signal transducer and activator of transcription 4 gene taxon:9606 20260602 ClinVar RGD 1313964 STAT4 HP:0100326 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0100543 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0100584 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0100614 ORPHA:117|ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250416 HPO RGD 1313964 STAT4 HP:0100653 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0100654 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0100669 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0100686 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0100743 RGD:153323313|PMID:22121102 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20220812 RGD RGD 1313964 STAT4 HP:0100749 ORPHA:93552|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0100755 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0100758 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0100769 ORPHA:85408|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0100796 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0100820 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0100825 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0200029 PMID:25741868|RGD:8554872 IAGP RGD:243063854 H signal transducer and activator of transcription 4 gene taxon:9606 20260519 ClinVar RGD 1313964 STAT4 HP:0200034 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20230821 HPO RGD 1313964 STAT4 HP:0200039 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:0200042 MIM:620443|PMID:37256972|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20250912 HPO RGD 1313964 STAT4 HP:4000041 ORPHA:117|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 HP:5000038 ORPHA:536|RGD:8699517 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20240815 HPO RGD 1313964 STAT4 no_association HP:0002206 RGD:8661714|PMID:19286670 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190726 RGD RGD 1313964 STAT4 no_association HP:0003493 RGD:8661701|PMID:23755762 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190726 RGD RGD 1313964 STAT4 no_association HP:0011838 RGD:8661701|PMID:23755762 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190726 RGD RGD 1313964 STAT4 no_association HP:0030859 RGD:8661714|PMID:19286670 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190726 RGD RGD 1313964 STAT4 no_association HP:0030873 RGD:8661714|PMID:19286670 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190726 RGD RGD 1313964 STAT4 no_association HP:0032235 RGD:8661709|PMID:20360187 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190918 RGD RGD 1313964 STAT4 no_association HP:0100324 RGD:8661701|PMID:23755762 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190726 RGD RGD 1313964 STAT4 onset HP:0000077 RGD:7207877|PMID:23049788 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20180816 RGD RGD 1313964 STAT4 onset HP:0000155 RGD:7207877|PMID:23049788 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20180816 RGD RGD 1313964 STAT4 onset HP:0002715 RGD:7207877|PMID:23049788 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20180816 RGD RGD 1313964 STAT4 onset HP:0002725 RGD:7207877|PMID:23049788 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190820 RGD RGD 1313964 STAT4 severity HP:0006562 RGD:25671423|PMID:25041342 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0000217 RGD:8661708|PMID:18273036 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190918 RGD RGD 1313964 STAT4 susceptibility HP:0001097 RGD:8661708|PMID:18273036 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190918 RGD RGD 1313964 STAT4 susceptibility HP:0001396 RGD:25671415|PMID:24648611 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0002206 RGD:8661701|PMID:23755762 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190726 RGD RGD 1313964 STAT4 susceptibility HP:0002613 RGD:25671415|PMID:24648611 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0002613 RGD:25671416|PMID:28395724 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0002613 RGD:25671421|PMID:26084578 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0002896 RGD:11553302|PMID:26745093 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0003155 RGD:25671418|PMID:23990947 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0003155 RGD:25671419|PMID:28977835 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0003237 RGD:25671419|PMID:28977835 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0003493 RGD:25671415|PMID:24648611 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0003493 RGD:25671418|PMID:23990947 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0003493 RGD:25671419|PMID:28977835 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0003493 RGD:8661701|PMID:23755762 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190726 RGD RGD 1313964 STAT4 susceptibility HP:0003493 RGD:8661708|PMID:18273036 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190918 RGD RGD 1313964 STAT4 susceptibility HP:0003573 RGD:25671420|PMID:25829184 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0003765 RGD:8661715|PMID:19500629 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190801 RGD RGD 1313964 STAT4 susceptibility HP:0006562 RGD:25671420|PMID:25829184 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0011838 RGD:8661701|PMID:23755762 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190726 RGD RGD 1313964 STAT4 susceptibility HP:0030859 RGD:8661701|PMID:23755762 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190726 RGD RGD 1313964 STAT4 susceptibility HP:0031907 RGD:25671415|PMID:24648611 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0031956 RGD:11553302|PMID:26745093 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0031964 RGD:11553302|PMID:26745093 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0031964 RGD:25671420|PMID:25829184 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0100280 RGD:25671421|PMID:26084578 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313964 STAT4 susceptibility HP:0100324 RGD:8661700|PMID:19644887 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190823 RGD RGD 1313964 STAT4 susceptibility HP:0100324 RGD:8661701|PMID:23755762 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190726 RGD RGD 1313964 STAT4 susceptibility HP:0100324 RGD:8661711|PMID:19950257 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190823 RGD RGD 1313964 STAT4 susceptibility HP:0100614 RGD:8661720|PMID:24632671 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20190802 RGD RGD 1313964 STAT4 susceptibility HP:0410369 RGD:25671420|PMID:25829184 IAGP H signal transducer and activator of transcription 4 gene taxon:9606 20200427 RGD RGD 1313966 EXT1 HP:0000006 MIM:133700|PMID:7550340|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20251023 HPO RGD 1313966 EXT1 HP:0000010 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0000016 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0000076 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0000164 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0000174 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0000219 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0000252 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20260209 HPO RGD 1313966 EXT1 HP:0000343 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20260209 HPO RGD 1313966 EXT1 HP:0000358 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20240815 HPO RGD 1313966 EXT1 HP:0000405 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0000411 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0000414 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0000431 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0000545 PMID:10679937|PMID:11391482|PMID:19810120|PMID:23262345|PMID:25230886|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151811511 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0000574 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0000639 PMID:10713884|PMID:11391482|PMID:17589361|PMID:19810120|PMID:23439489|PMID:24532482|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:29126381|PMID:30334991|PMID:30806661|PMID:33414810|PMID:33552269|PMID:34006472|PMID:37317574|PMID:9521425|RGD:8554872 IAGP RGD:11559724 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0000716 PMID:10679937|PMID:11391482|PMID:19810120|PMID:23262345|PMID:25230886|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151811511 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0000729 PMID:10679937|PMID:11391482|PMID:16199547|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:13495014 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0000729 PMID:10679937|PMID:11391482|PMID:19810120|PMID:23262345|PMID:25230886|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151811511 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0000736 PMID:10679937|PMID:11391482|PMID:19810120|PMID:23262345|PMID:25230886|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151811511 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0000739 PMID:10679937|PMID:11391482|PMID:19810120|PMID:23262345|PMID:25230886|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151811511 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:596921705 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0000896 MIM:133700|ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20250416 HPO RGD 1313966 EXT1 HP:0000896 PMID:10679937|PMID:11391482|PMID:16088908|PMID:19810120|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26915025 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0000918 MIM:133700|ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20250416 HPO RGD 1313966 EXT1 HP:0000924 PMID:19810120|PMID:25741868|PMID:28492532|PMID:29529714|RGD:8554872 IAGP RGD:11560030 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0000924 PMID:25741868|RGD:8554872 IAGP RGD:151349133 H exostosin glycosyltransferase 1 gene taxon:9606 20220208 ClinVar RGD 1313966 EXT1 HP:0000924 PMID:25741868|RGD:8554872 IAGP RGD:8595792 H exostosin glycosyltransferase 1 gene taxon:9606 20260602 ClinVar RGD 1313966 EXT1 HP:0000929 PMID:10679937|PMID:11391482|PMID:19810120|PMID:23262345|PMID:25230886|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151811511 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0000952 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0000953 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0000974 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001009 PMID:10713884|PMID:11391482|PMID:17589361|PMID:19810120|PMID:23439489|PMID:24532482|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:29126381|PMID:30334991|PMID:30806661|PMID:33414810|PMID:33552269|PMID:34006472|PMID:37317574|PMID:9521425|RGD:8554872 IAGP RGD:11559724 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001065 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001156 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0001161 PMID:10713884|PMID:11391482|PMID:17589361|PMID:19810120|PMID:23439489|PMID:24532482|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:29126381|PMID:30334991|PMID:30806661|PMID:33414810|PMID:33552269|PMID:34006472|PMID:37317574|PMID:9521425|RGD:8554872 IAGP RGD:11559724 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001191 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0001225 PMID:25741868|RGD:8554872 IAGP RGD:151728072 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001249 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20260209 HPO RGD 1313966 EXT1 HP:0001252 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20260209 HPO RGD 1313966 EXT1 HP:0001256 PMID:10713884|PMID:11391482|PMID:17589361|PMID:19810120|PMID:23439489|PMID:24532482|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:29126381|PMID:30334991|PMID:30806661|PMID:33414810|PMID:33552269|PMID:34006472|PMID:37317574|PMID:9521425|RGD:8554872 IAGP RGD:11559724 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:596921705 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001272 PMID:10713884|PMID:11391482|PMID:17589361|PMID:19810120|PMID:23439489|PMID:24532482|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:29126381|PMID:30334991|PMID:30806661|PMID:33414810|PMID:33552269|PMID:34006472|PMID:37317574|PMID:9521425|RGD:8554872 IAGP RGD:11559724 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001317 PMID:10713884|PMID:11391482|PMID:17589361|PMID:19810120|PMID:23439489|PMID:24532482|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:29126381|PMID:30334991|PMID:30806661|PMID:33414810|PMID:33552269|PMID:34006472|PMID:37317574|PMID:9521425|RGD:8554872 IAGP RGD:11559724 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001369 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0001373 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0001376 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0001382 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20260209 HPO RGD 1313966 EXT1 HP:0001382 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001385 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0001402 RGD:8554872 IAGP RGD:713766505 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001402 RGD:8554872 IAGP RGD:713766521 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001402 RGD:8554872 IAGP RGD:713766536 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001402 RGD:8554872 IAGP RGD:713766552 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001402 RGD:8554872 IAGP RGD:713766567 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001442 MIM:215300|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0001510 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0001582 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0001845 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001850 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0001852 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0001883 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002002 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002015 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002066 PMID:10713884|PMID:11391482|PMID:17589361|PMID:19810120|PMID:23439489|PMID:24532482|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:29126381|PMID:30334991|PMID:30806661|PMID:33414810|PMID:33552269|PMID:34006472|PMID:37317574|PMID:9521425|RGD:8554872 IAGP RGD:11559724 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0002076 PMID:10679937|PMID:11391482|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:26915519 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0002107 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002119 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002144 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002176 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002209 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002280 PMID:10713884|PMID:11391482|PMID:17589361|PMID:19810120|PMID:23439489|PMID:24532482|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:29126381|PMID:30334991|PMID:30806661|PMID:33414810|PMID:33552269|PMID:34006472|PMID:37317574|PMID:9521425|RGD:8554872 IAGP RGD:11559724 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0002318 MIM:133700|ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20250416 HPO RGD 1313966 EXT1 HP:0002653 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002664 PMID:25741868|RGD:8554872 IAGP RGD:405855354 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0002673 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20260209 HPO RGD 1313966 EXT1 HP:0002673 PMID:25741868|RGD:8554872 IAGP RGD:596921705 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0002750 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002762 MIM:133700|PMID:11432960|PMID:34012378|PMID:35106951|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20250912 HPO RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:10713884|PMID:11391482|PMID:17301954|PMID:19810120|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11559888 H exostosin glycosyltransferase 1 gene taxon:9606 20241210 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:11432960|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:12894705 H exostosin glycosyltransferase 1 gene taxon:9606 20240403 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:11432960|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:25318493 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:15253765|PMID:16199547|PMID:16283885|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:11560281 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:15253765|PMID:16199547|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:8556856 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:16088908|PMID:19810120|PMID:23262345|PMID:25741868|PMID:26961984|PMID:28492532|PMID:37317574|RGD:8554872 IAGP RGD:596943910 H exostosin glycosyltransferase 1 gene taxon:9606 20250311 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:16199547|PMID:16283885|PMID:19810120|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150417544 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:16199547|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:11559873 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:17041877|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:11560189 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:17041877|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:40887453 H exostosin glycosyltransferase 1 gene taxon:9606 20250311 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:17301954|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:13509049 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:18165274|PMID:19810120|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38486837 H exostosin glycosyltransferase 1 gene taxon:9606 20230808 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:18165274|PMID:19810120|PMID:28492532|PMID:30334991|PMID:9150727|RGD:8554872 IAGP RGD:13520503 H exostosin glycosyltransferase 1 gene taxon:9606 20210608 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:18165274|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:13509083 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:18373409|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:25317588 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:18976157|PMID:19810120|PMID:28492532|PMID:9521425|RGD:8554872 IAGP RGD:25318679 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:19810120|PMID:23439489|PMID:25741868|PMID:28492532|PMID:29126381|PMID:7550340|RGD:8554872 IAGP RGD:11560141 H exostosin glycosyltransferase 1 gene taxon:9606 20221108 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:11559746 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:12894365 H exostosin glycosyltransferase 1 gene taxon:9606 20220607 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:12914109 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:13509246 H exostosin glycosyltransferase 1 gene taxon:9606 20210608 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10679937|PMID:11391482|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:13520466 H exostosin glycosyltransferase 1 gene taxon:9606 20210608 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:10713884|PMID:11391482|PMID:17589361|PMID:19810120|PMID:23439489|PMID:24532482|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:29126381|PMID:30334991|PMID:30806661|PMID:33414810|PMID:33552269|PMID:34006472|PMID:37317574|PMID:9521425|RGD:8554872 IAGP RGD:11559724 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:11170095|PMID:25741868|PMID:26690531|PMID:28492532|RGD:8554872 IAGP RGD:13509213 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:15586175|PMID:19810120|PMID:20301413|PMID:22820392|PMID:23439489|PMID:28492532|PMID:33632255|PMID:37317574|RGD:8554872 IAGP RGD:13477647 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:17576681|PMID:19810120|PMID:23439489|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:329847726 H exostosin glycosyltransferase 1 gene taxon:9606 20240403 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:19810120|PMID:23439489|PMID:28492532|RGD:8554872 IAGP RGD:13476120 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:19810120|PMID:25741868|PMID:28492532|PMID:29529714|RGD:8554872 IAGP RGD:11560030 H exostosin glycosyltransferase 1 gene taxon:9606 20240910 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:19810120|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11545849 H exostosin glycosyltransferase 1 gene taxon:9606 20210323 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:19810120|PMID:28492532|PMID:29529714|RGD:8554872 IAGP RGD:13476978 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:23439489|PMID:28492532|RGD:8554872 IAGP RGD:155265581 H exostosin glycosyltransferase 1 gene taxon:9606 20240403 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:24532482|PMID:28492532|PMID:31400121|RGD:8554872 IAGP RGD:12895382 H exostosin glycosyltransferase 1 gene taxon:9606 20240403 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:28600779|PMID:33726816|PMID:9521425|RGD:8554872 IAGP RGD:40904274 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10048443 H exostosin glycosyltransferase 1 gene taxon:9606 20210706 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11544909 H exostosin glycosyltransferase 1 gene taxon:9606 20210323 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11551853 H exostosin glycosyltransferase 1 gene taxon:9606 20210706 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:21067121 H exostosin glycosyltransferase 1 gene taxon:9606 20240319 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:28492532|PMID:29620724|RGD:8554872 IAGP RGD:150551727 H exostosin glycosyltransferase 1 gene taxon:9606 20220420 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:28492532|RGD:8554872 IAGP RGD:12913998 H exostosin glycosyltransferase 1 gene taxon:9606 20220420 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:28492532|RGD:8554872 IAGP RGD:13522671 H exostosin glycosyltransferase 1 gene taxon:9606 20241112 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:28492532|RGD:8554872 IAGP RGD:13530201 H exostosin glycosyltransferase 1 gene taxon:9606 20220420 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:28492532|RGD:8554872 IAGP RGD:14743175 H exostosin glycosyltransferase 1 gene taxon:9606 20210608 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:28492532|RGD:8554872 IAGP RGD:153347980 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0002762 PMID:28492532|RGD:8554872 IAGP RGD:243054399 H exostosin glycosyltransferase 1 gene taxon:9606 20240319 ClinVar RGD 1313966 EXT1 HP:0002762 RGD:8554872 IAGP RGD:127252944 H exostosin glycosyltransferase 1 gene taxon:9606 20230411 ClinVar RGD 1313966 EXT1 HP:0002762 RGD:8554872 IAGP RGD:127252948 H exostosin glycosyltransferase 1 gene taxon:9606 20230411 ClinVar RGD 1313966 EXT1 HP:0002762 RGD:8554872 IAGP RGD:127252953 H exostosin glycosyltransferase 1 gene taxon:9606 20230411 ClinVar RGD 1313966 EXT1 HP:0002762 RGD:8554872 IAGP RGD:127270010 H exostosin glycosyltransferase 1 gene taxon:9606 20230411 ClinVar RGD 1313966 EXT1 HP:0002762 RGD:8554872 IAGP RGD:151852869 H exostosin glycosyltransferase 1 gene taxon:9606 20230411 ClinVar RGD 1313966 EXT1 HP:0002763 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002812 MIM:133700|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002815 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002823 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002857 MIM:133700|ORPHA:321|ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20251023 HPO RGD 1313966 EXT1 HP:0002857 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0002991 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002991 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0002992 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0002992 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0003002 PMID:28492532|RGD:8554872 IAGP RGD:40903344 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0003016 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20260209 HPO RGD 1313966 EXT1 HP:0003026 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20260209 HPO RGD 1313966 EXT1 HP:0003068 MIM:133700|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0003105 MIM:133700|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0003276 MIM:133700|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0003326 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0003330 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0003396 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0003406 MIM:133700|ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20250416 HPO RGD 1313966 EXT1 HP:0003474 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0003621 MIM:133700|PMID:34012378|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20251023 HPO RGD 1313966 EXT1 HP:0003835 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0003959 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0003977 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0003977 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0004302 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0004322 MIM:133700|ORPHA:321|ORPHA:502|PMID:11432960|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20250912 HPO RGD 1313966 EXT1 HP:0004322 PMID:17041877|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13805706 H exostosin glycosyltransferase 1 gene taxon:9606 20260707 ClinVar RGD 1313966 EXT1 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:151728072 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:596921705 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0004684 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0005039 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0005039 PMID:10679937|PMID:11391482|PMID:16088908|PMID:19810120|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26915025 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0005039 PMID:25741868|RGD:8554872 IAGP RGD:151728072 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0005214 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0005743 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0005922 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0006094 PMID:25741868|RGD:8554872 IAGP RGD:713565916 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0006254 PMID:10713884|PMID:11391482|PMID:17589361|PMID:19810120|PMID:23439489|PMID:24532482|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:29126381|PMID:30334991|PMID:30806661|PMID:33414810|PMID:33552269|PMID:34006472|PMID:37317574|PMID:9521425|RGD:8554872 IAGP RGD:11559724 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0006385 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0006487 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0006488 PMID:25741868|RGD:8554872 IAGP RGD:151728072 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0006765 MIM:133700|MIM:215300|ORPHA:321|PMID:11432960|PMID:34012378|PMID:35106951|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20250912 HPO RGD 1313966 EXT1 HP:0006765 PMID:10639137|PMID:10679296|PMID:11391482|PMID:11432960|PMID:16283885|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:25230886|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:29529714|PMID:30806661|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772|RGD:8554872 IAGP RGD:8595793 H exostosin glycosyltransferase 1 gene taxon:9606 20250211 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:10679937|PMID:10713884|PMID:11391482|PMID:17301954|PMID:19810120|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11559888 H exostosin glycosyltransferase 1 gene taxon:9606 20241210 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:10679937|PMID:11391482|PMID:16088908|PMID:19810120|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26915025 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:10679937|PMID:11391482|PMID:19344451|PMID:19810120|PMID:25741868|PMID:28492532|PMID:29126381|RGD:8554872 IAGP RGD:38463566 H exostosin glycosyltransferase 1 gene taxon:9606 20250311 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:10679937|PMID:11391482|PMID:19810120|PMID:21499719|PMID:25468659|PMID:25541963|PMID:25741868|PMID:28492532|PMID:30334991|PMID:8981950|PMID:9521425|RGD:8554872 IAGP RGD:13487397 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:10679937|PMID:11391482|PMID:19810120|PMID:23262345|PMID:25230886|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127268645 H exostosin glycosyltransferase 1 gene taxon:9606 20241210 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:10679937|PMID:11391482|PMID:19810120|PMID:23439489|PMID:25741868|PMID:28492532|PMID:29126381|PMID:7550340|RGD:8554872 IAGP RGD:11560141 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:10679937|PMID:11391482|PMID:19810120|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155984065 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:11391482|PMID:18165274|PMID:18330718|PMID:19810120|PMID:25741868|PMID:26961984|PMID:28492532|PMID:8981950|RGD:8554872 IAGP RGD:8595790 H exostosin glycosyltransferase 1 gene taxon:9606 20250211 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:11391482|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156305736 H exostosin glycosyltransferase 1 gene taxon:9606 20250211 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25727835|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156305702 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28170084|PMID:28492532|RGD:8554872 IAGP RGD:401941967 H exostosin glycosyltransferase 1 gene taxon:9606 20250311 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|PMID:29126381|RGD:8554872 IAGP RGD:151822836 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|PMID:34516402|RGD:8554872 IAGP RGD:401927334 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11600050 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126729669 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126910124 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151233935 H exostosin glycosyltransferase 1 gene taxon:9606 20230214 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151764240 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151771039 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151785646 H exostosin glycosyltransferase 1 gene taxon:9606 20250211 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151795680 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151807702 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151814611 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151840322 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151849035 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151855487 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151892285 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15193311 H exostosin glycosyltransferase 1 gene taxon:9606 20230110 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152026565 H exostosin glycosyltransferase 1 gene taxon:9606 20250211 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155955515 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155993860 H exostosin glycosyltransferase 1 gene taxon:9606 20250211 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156081481 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156161694 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156189459 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156219074 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156302061 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156329651 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156390735 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156445071 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:21067121 H exostosin glycosyltransferase 1 gene taxon:9606 20240319 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26892494 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38457251 H exostosin glycosyltransferase 1 gene taxon:9606 20240319 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38463734 H exostosin glycosyltransferase 1 gene taxon:9606 20230110 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38484689 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401940777 H exostosin glycosyltransferase 1 gene taxon:9606 20250311 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401940780 H exostosin glycosyltransferase 1 gene taxon:9606 20240319 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401941954 H exostosin glycosyltransferase 1 gene taxon:9606 20240403 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401941955 H exostosin glycosyltransferase 1 gene taxon:9606 20250311 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401941960 H exostosin glycosyltransferase 1 gene taxon:9606 20240319 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401941961 H exostosin glycosyltransferase 1 gene taxon:9606 20240403 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401941964 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401941968 H exostosin glycosyltransferase 1 gene taxon:9606 20240319 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401941974 H exostosin glycosyltransferase 1 gene taxon:9606 20240319 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405043938 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405113765 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405868323 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597724704 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:155918266 H exostosin glycosyltransferase 1 gene taxon:9606 20250211 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:243054490 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:243062552 H exostosin glycosyltransferase 1 gene taxon:9606 20230606 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:38461520 H exostosin glycosyltransferase 1 gene taxon:9606 20210323 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401940771 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401940772 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401940773 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401940774 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401940775 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401940776 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401940778 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401940779 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401940781 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941951 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941952 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941953 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941956 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941957 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941958 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941959 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941963 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941965 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941966 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941969 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941970 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941971 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941972 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941973 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941975 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401941976 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401942078 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401949998 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401949999 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:401950000 H exostosin glycosyltransferase 1 gene taxon:9606 20240109 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868311 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868314 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868316 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868318 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868321 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868325 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868328 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868330 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868332 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868334 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868338 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868340 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868343 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868345 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868347 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868350 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:405868411 H exostosin glycosyltransferase 1 gene taxon:9606 20240709 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:597705411 H exostosin glycosyltransferase 1 gene taxon:9606 20250211 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:597705421 H exostosin glycosyltransferase 1 gene taxon:9606 20250211 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:597724658 H exostosin glycosyltransferase 1 gene taxon:9606 20250211 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:597724672 H exostosin glycosyltransferase 1 gene taxon:9606 20250211 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:597724688 H exostosin glycosyltransferase 1 gene taxon:9606 20250211 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:597724717 H exostosin glycosyltransferase 1 gene taxon:9606 20250211 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:597724731 H exostosin glycosyltransferase 1 gene taxon:9606 20250211 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:598125814 H exostosin glycosyltransferase 1 gene taxon:9606 20250408 ClinVar RGD 1313966 EXT1 HP:0006765 PMID:25741868|RGD:8554872 IAGP RGD:713961165 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0006765 RGD:8554872 IAGP RGD:8556854 H exostosin glycosyltransferase 1 gene taxon:9606 20220809 ClinVar RGD 1313966 EXT1 HP:0006765 RGD:8554872 IAGP RGD:8556855 H exostosin glycosyltransferase 1 gene taxon:9606 20260602 ClinVar RGD 1313966 EXT1 HP:0006770 PMID:10679937|PMID:11391482|PMID:16199547|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:13814369 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0006770 PMID:25741868|RGD:8554872 IAGP RGD:12913838 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0007598 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0008443 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0008800 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0009118 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0009821 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0009826 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0009912 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0009928 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0010049 MIM:133700|ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20260209 HPO RGD 1313966 EXT1 HP:0010230 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0010344 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0010501 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0010647 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0011069 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0011463 MIM:133700|PMID:35106951|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20250912 HPO RGD 1313966 EXT1 HP:0012126 RGD:8554872 IAGP RGD:713668545 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0012151 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0012531 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0020110 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0025232 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0030021 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0030025 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0030084 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0030359 RGD:8554872 IAGP RGD:714085178 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0030431 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0030431 PMID:25741868|PMID:28492532|PMID:34516402|RGD:8554872 IAGP RGD:401927334 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0030431 PMID:25741868|RGD:8554872 IAGP RGD:151728072 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0030680 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0030883 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0031625 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0032510 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0040069 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0040071 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0040163 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0040188 PMID:10679937|PMID:11391482|PMID:16088908|PMID:19810120|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26915025 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0100522 PMID:25741868|RGD:8554872 IAGP RGD:150413191 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0100526 PMID:25741868|RGD:8554872 IAGP RGD:150413191 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0100543 PMID:10679937|PMID:11391482|PMID:16199547|PMID:19810120|PMID:28492532|RGD:8554872 IAGP RGD:13495014 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0100543 PMID:10679937|PMID:11391482|PMID:19810120|PMID:23262345|PMID:25230886|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151811511 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0100555 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0100559 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0100560 PMID:25741868|RGD:8554872 IAGP RGD:152981146 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0100615 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151758773 H exostosin glycosyltransferase 1 gene taxon:9606 20230411 ClinVar RGD 1313966 EXT1 HP:0100615 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152033873 H exostosin glycosyltransferase 1 gene taxon:9606 20230411 ClinVar RGD 1313966 EXT1 HP:0100615 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152154256 H exostosin glycosyltransferase 1 gene taxon:9606 20230411 ClinVar RGD 1313966 EXT1 HP:0100615 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156214644 H exostosin glycosyltransferase 1 gene taxon:9606 20230411 ClinVar RGD 1313966 EXT1 HP:0100615 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:243054623 H exostosin glycosyltransferase 1 gene taxon:9606 20240403 ClinVar RGD 1313966 EXT1 HP:0100615 PMID:25741868|RGD:8554872 IAGP RGD:243054582 H exostosin glycosyltransferase 1 gene taxon:9606 20230411 ClinVar RGD 1313966 EXT1 HP:0100615 PMID:25741868|RGD:8554872 IAGP RGD:243054635 H exostosin glycosyltransferase 1 gene taxon:9606 20230411 ClinVar RGD 1313966 EXT1 HP:0100749 ORPHA:321|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0100777 ORPHA:502|RGD:8699517 IAGP H exostosin glycosyltransferase 1 gene taxon:9606 20230821 HPO RGD 1313966 EXT1 HP:0100777 PMID:10679937|PMID:11391482|PMID:16199547|PMID:18165274|PMID:19810120|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26903945 H exostosin glycosyltransferase 1 gene taxon:9606 20250107 ClinVar RGD 1313966 EXT1 HP:0100777 PMID:10679937|PMID:11391482|PMID:19810120|PMID:25741868|PMID:28492532|PMID:9150727|RGD:8554872 IAGP RGD:14736752 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0100777 PMID:10713884|PMID:11391482|PMID:17589361|PMID:19810120|PMID:23439489|PMID:24532482|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:29126381|PMID:30334991|PMID:30806661|PMID:33414810|PMID:33552269|PMID:34006472|PMID:37317574|PMID:9521425|RGD:8554872 IAGP RGD:11559724 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0100777 PMID:25741868|PMID:28492532|PMID:34516402|RGD:8554872 IAGP RGD:401927334 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313966 EXT1 HP:0100777 PMID:25741868|RGD:8554872 IAGP RGD:596921705 H exostosin glycosyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1313969 ZDHHC21 HP:0002861 RGD:8554872 IAGP RGD:713723513 H zDHHC palmitoyltransferase 21 gene taxon:9606 20260519 ClinVar RGD 1313969 ZDHHC21 HP:0004808 RGD:8554872 IAGP RGD:713513773 H zDHHC palmitoyltransferase 21 gene taxon:9606 20260519 ClinVar RGD 1313969 ZDHHC21 HP:0006770 RGD:8554872 IAGP RGD:713575495 H zDHHC palmitoyltransferase 21 gene taxon:9606 20260519 ClinVar RGD 1313969 ZDHHC21 HP:0006770 RGD:8554872 IAGP RGD:714257375 H zDHHC palmitoyltransferase 21 gene taxon:9606 20260519 ClinVar RGD 1313969 ZDHHC21 HP:0030153 RGD:8554872 IAGP RGD:713513773 H zDHHC palmitoyltransferase 21 gene taxon:9606 20260519 ClinVar RGD 1313969 ZDHHC21 HP:0030359 RGD:8554872 IAGP RGD:713575524 H zDHHC palmitoyltransferase 21 gene taxon:9606 20260519 ClinVar RGD 1313969 ZDHHC21 HP:0100242 RGD:8554872 IAGP RGD:713575554 H zDHHC palmitoyltransferase 21 gene taxon:9606 20260519 ClinVar RGD 1313969 ZDHHC21 HP:0100242 RGD:8554872 IAGP RGD:714255510 H zDHHC palmitoyltransferase 21 gene taxon:9606 20260519 ClinVar RGD 1313969 ZDHHC21 HP:0100522 RGD:8554872 IAGP RGD:713575715 H zDHHC palmitoyltransferase 21 gene taxon:9606 20260519 ClinVar RGD 1313969 ZDHHC21 HP:0100522 RGD:8554872 IAGP RGD:713723447 H zDHHC palmitoyltransferase 21 gene taxon:9606 20260519 ClinVar RGD 1313969 ZDHHC21 HP:0100526 RGD:8554872 IAGP RGD:713575605 H zDHHC palmitoyltransferase 21 gene taxon:9606 20260519 ClinVar RGD 1313972 PSMD2 HP:0002032 RGD:8554872 IAGP RGD:15174117 H proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene taxon:9606 20210323 ClinVar RGD 1313972 PSMD2 HP:0002665 RGD:8554872 IAGP RGD:713841109 H proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene taxon:9606 20260519 ClinVar RGD 1313972 PSMD2 HP:0006770 RGD:8554872 IAGP RGD:713840958 H proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene taxon:9606 20260519 ClinVar RGD 1313972 PSMD2 HP:0006770 RGD:8554872 IAGP RGD:713840998 H proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene taxon:9606 20260519 ClinVar RGD 1313972 PSMD2 HP:0006770 RGD:8554872 IAGP RGD:713841123 H proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene taxon:9606 20260519 ClinVar RGD 1313972 PSMD2 HP:0006770 RGD:8554872 IAGP RGD:713841171 H proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene taxon:9606 20260519 ClinVar RGD 1313972 PSMD2 HP:0006770 RGD:8554872 IAGP RGD:713841191 H proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene taxon:9606 20260519 ClinVar RGD 1313972 PSMD2 HP:0011797 RGD:8554872 IAGP RGD:713959040 H proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene taxon:9606 20260519 ClinVar RGD 1313972 PSMD2 HP:0012126 RGD:8554872 IAGP RGD:713600283 H proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene taxon:9606 20260519 ClinVar RGD 1313972 PSMD2 HP:0030153 RGD:8554872 IAGP RGD:714115574 H proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene taxon:9606 20260519 ClinVar RGD 1313972 PSMD2 HP:0030359 RGD:8554872 IAGP RGD:713841050 H proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene taxon:9606 20260519 ClinVar RGD 1313972 PSMD2 HP:0100242 RGD:8554872 IAGP RGD:713959037 H proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene taxon:9606 20260519 ClinVar RGD 1313972 PSMD2 HP:0100522 RGD:8554872 IAGP RGD:713600283 H proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene taxon:9606 20260519 ClinVar RGD 1313972 PSMD2 HP:0100522 RGD:8554872 IAGP RGD:713840942 H proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene taxon:9606 20260519 ClinVar RGD 1313972 PSMD2 HP:0100526 RGD:8554872 IAGP RGD:713959037 H proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene taxon:9606 20260519 ClinVar RGD 1313974 ZKSCAN3 HP:0002861 RGD:8554872 IAGP RGD:713738128 H zinc finger with KRAB and SCAN domains 3 gene taxon:9606 20260519 ClinVar RGD 1313974 ZKSCAN3 HP:0004808 RGD:8554872 IAGP RGD:714155146 H zinc finger with KRAB and SCAN domains 3 gene taxon:9606 20260519 ClinVar RGD 1313974 ZKSCAN3 HP:0004808 RGD:8554872 IAGP RGD:714157834 H zinc finger with KRAB and SCAN domains 3 gene taxon:9606 20260519 ClinVar RGD 1313976 TTPAL HP:0002861 RGD:8554872 IAGP RGD:713966355 H alpha tocopherol transfer protein like gene taxon:9606 20260519 ClinVar RGD 1313976 TTPAL HP:0004808 RGD:8554872 IAGP RGD:713962979 H alpha tocopherol transfer protein like gene taxon:9606 20260519 ClinVar RGD 1313976 TTPAL HP:0006725 RGD:8554872 IAGP RGD:713966359 H alpha tocopherol transfer protein like gene taxon:9606 20260519 ClinVar RGD 1313976 TTPAL HP:0011797 RGD:8554872 IAGP RGD:713962973 H alpha tocopherol transfer protein like gene taxon:9606 20260519 ClinVar RGD 1313979 TYMP HP:0000007 MIM:603041|PMID:9924029|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0000044 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0000407 MIM:603041|ORPHA:298|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0000508 MIM:603041|ORPHA:298|PMID:10852545|PMID:14757860|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0000544 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0000590 MIM:603041|PMID:14757860|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0000597 MIM:603041|ORPHA:298|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0000651 MIM:603041|PMID:14757860|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0000726 MIM:603041|ORPHA:298|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0000815 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0001155 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0001249 MIM:603041|ORPHA:298|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0001271 PMID:15781193|PMID:25741868|PMID:28492532|PMID:9924029|RGD:8554872 IAGP RGD:155794875 H thymidine phosphorylase gene taxon:9606 20260519 ClinVar RGD 1313979 TYMP HP:0001284 MIM:603041|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0001394 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0001403 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0001533 MIM:603041|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0001824 MIM:603041|ORPHA:298|PMID:10852545|PMID:14757860|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0001903 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0001939 PMID:25741868|RGD:8554872 IAGP RGD:408365268 H thymidine phosphorylase gene taxon:9606 20260519 ClinVar RGD 1313979 TYMP HP:0002013 MIM:603041|ORPHA:298|PMID:10852545|PMID:14757860|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0002014 MIM:603041|ORPHA:298|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0002015 MIM:603041|ORPHA:298|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0002018 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0002019 MIM:603041|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0002020 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0002024 MIM:603041|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0002027 MIM:603041|ORPHA:298|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0002253 MIM:603041|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0002254 MIM:603041|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0002352 MIM:603041|ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250416 HPO RGD 1313979 TYMP HP:0002460 MIM:603041|ORPHA:298|PMID:14757860|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0002500 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0002518 PMID:15781193|PMID:25741868|PMID:28492532|PMID:9924029|RGD:8554872 IAGP RGD:155794875 H thymidine phosphorylase gene taxon:9606 20260519 ClinVar RGD 1313979 TYMP HP:0002522 MIM:603041|PMID:14757860|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0002578 MIM:603041|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0002579 MIM:603041|ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250416 HPO RGD 1313979 TYMP HP:0002579 PMID:25741868|RGD:8554872 IAGP RGD:13437411 H thymidine phosphorylase gene taxon:9606 20260602 ClinVar RGD 1313979 TYMP HP:0002579 PMID:25741868|RGD:8554872 IAGP RGD:13437583 H thymidine phosphorylase gene taxon:9606 20260602 ClinVar RGD 1313979 TYMP HP:0002861 RGD:8554872 IAGP RGD:713770382 H thymidine phosphorylase gene taxon:9606 20260519 ClinVar RGD 1313979 TYMP HP:0002910 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0002922 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0002936 MIM:603041|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0003128 MIM:603041|ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250416 HPO RGD 1313979 TYMP HP:0003199 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0003200 MIM:603041|ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250416 HPO RGD 1313979 TYMP HP:0003270 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0003348 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0003387 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0003388 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0003401 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0003431 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0003448 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0003477 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0003548 MIM:603041|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0003621 MIM:603041|PMID:14757860|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0003676 MIM:603041|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0003688 MIM:603041|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0003689 MIM:603041|PMID:14757860|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0003693 MIM:603041|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0003737 MIM:603041|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0004326 MIM:603041|ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250416 HPO RGD 1313979 TYMP HP:0004326 PMID:15781193|PMID:25741868|PMID:28492532|PMID:9924029|RGD:8554872 IAGP RGD:155794875 H thymidine phosphorylase gene taxon:9606 20260519 ClinVar RGD 1313979 TYMP HP:0004389 MIM:603041|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0004389 PMID:25741868|RGD:8554872 IAGP RGD:405813913 H thymidine phosphorylase gene taxon:9606 20250708 ClinVar RGD 1313979 TYMP HP:0004395 MIM:603041|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0004396 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0007103 MIM:603041|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0007108 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0007141 MIM:603041|ORPHA:298|PMID:14757860|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0008049 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0009027 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0009830 MIM:603041|ORPHA:298|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0009830 PMID:25741868|RGD:8554872 IAGP RGD:13437411 H thymidine phosphorylase gene taxon:9606 20260602 ClinVar RGD 1313979 TYMP HP:0009830 PMID:25741868|RGD:8554872 IAGP RGD:13437583 H thymidine phosphorylase gene taxon:9606 20260602 ClinVar RGD 1313979 TYMP HP:0011024 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0012103 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0012126 RGD:8554872 IAGP RGD:713606478 H thymidine phosphorylase gene taxon:9606 20260519 ClinVar RGD 1313979 TYMP HP:0012533 MIM:603041|PMID:14757860|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0012850 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0025149 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0025461 ORPHA:298|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0030143 MIM:603041|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0031368 MIM:603041|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:0032155 MIM:603041|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0033748 MIM:603041|PMID:14757860|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0033842 MIM:603041|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0034276 MIM:603041|PMID:14757860|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0034277 MIM:603041|PMID:14757860|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313979 TYMP HP:0100613 MIM:603041|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20230821 HPO RGD 1313979 TYMP HP:6000570 MIM:603041|PMID:10852545|RGD:8699517 IAGP H thymidine phosphorylase gene taxon:9606 20250912 HPO RGD 1313984 PXN HP:0001402 RGD:8554872 IAGP RGD:713350927 H paxillin gene taxon:9606 20260519 ClinVar RGD 1313984 PXN HP:0002861 RGD:8554872 IAGP RGD:713670954 H paxillin gene taxon:9606 20260519 ClinVar RGD 1313984 PXN HP:0012126 RGD:8554872 IAGP RGD:713622634 H paxillin gene taxon:9606 20260519 ClinVar RGD 1313984 PXN HP:0100242 RGD:8554872 IAGP RGD:713622640 H paxillin gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0000007 MIM:278720|PMID:8298653|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20250912 HPO RGD 1313986 XPC HP:0000028 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000135 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000164 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000252 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000365 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000407 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000486 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000491 MIM:278720|ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20250416 HPO RGD 1313986 XPC HP:0000498 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000509 MIM:278720|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000518 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000524 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000613 MIM:278720|ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20250416 HPO RGD 1313986 XPC HP:0000613 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0000613 PMID:20054342|PMID:23173980|PMID:24218596|PMID:25256075|PMID:25566891|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29178624|RGD:8554872 IAGP RGD:13435508 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0000621 MIM:278720|ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20250416 HPO RGD 1313986 XPC HP:0000648 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000656 MIM:278720|ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20250416 HPO RGD 1313986 XPC HP:0000951 PMID:10766188|PMID:16081512|PMID:23173980|PMID:25256075|PMID:25741868|PMID:27387384|PMID:28492532|RGD:8554872 IAGP RGD:13785318 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0000951 PMID:20054342|PMID:23173980|PMID:24218596|PMID:25256075|PMID:25566891|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29178624|RGD:8554872 IAGP RGD:13435508 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0000953 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0000958 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000962 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000963 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000992 MIM:278720|ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20250416 HPO RGD 1313986 XPC HP:0000992 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0000995 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0000996 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0001009 MIM:278720|ORPHA:910|PMID:14662655|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20250912 HPO RGD 1313986 XPC HP:0001009 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0001010 MIM:278720|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0001010 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0001029 MIM:278720|ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20250416 HPO RGD 1313986 XPC HP:0001034 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0001053 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0001053 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0001059 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0001072 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0001249 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20251023 HPO RGD 1313986 XPC HP:0001250 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0001251 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0001257 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0001315 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0001374 PMID:25741868|RGD:8554872 IAGP RGD:243063744 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0001480 MIM:278720|ORPHA:910|PMID:14662655|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20250912 HPO RGD 1313986 XPC HP:0001508 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0001596 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0001945 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0002071 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0002120 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0002353 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0002376 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0002664 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0002671 MIM:278720|PMID:14662655|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20250912 HPO RGD 1313986 XPC HP:0002750 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0002829 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0002861 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0002861 PMID:25741868|RGD:8554872 IAGP RGD:243063744 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0003079 MIM:278720|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0003079 PMID:23173980|PMID:25256075|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13785174 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0003355 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0004322 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0004334 MIM:278720|ORPHA:910|PMID:14662655|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20250912 HPO RGD 1313986 XPC HP:0004493 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0004808 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11545324 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0004808 RGD:8554872 IAGP RGD:150420403 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0005306 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0005336 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0005585 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0005586 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0006739 MIM:278720|PMID:14662655|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20250912 HPO RGD 1313986 XPC HP:0006770 RGD:8554872 IAGP RGD:713815865 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0007400 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0007452 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0007466 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0007603 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0007759 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0008069 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0008734 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0009123 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0009755 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0009830 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0010649 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0010783 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0011276 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0011463 MIM:278720|PMID:14662655|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20250912 HPO RGD 1313986 XPC HP:0012056 MIM:278720|PMID:14662655|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20250912 HPO RGD 1313986 XPC HP:0012126 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11545324 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0012378 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0012733 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0012740 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0025127 MIM:278720|PMID:14662655|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20250912 HPO RGD 1313986 XPC HP:0025127 PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200|RGD:8554872 IAGP RGD:10044797 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0100012 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0100242 PMID:16199547|PMID:23173980|PMID:25256075|PMID:25741868|PMID:28492532|PMID:9804340|RGD:8554872 IAGP RGD:13789246 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0100242 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11545324 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0100242 RGD:8554872 IAGP RGD:150420403 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0100242 RGD:8554872 IAGP RGD:713815964 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0100242 RGD:8554872 IAGP RGD:713816253 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0100522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11545324 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0100522 RGD:8554872 IAGP RGD:150420403 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313986 XPC HP:0100543 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0100585 ORPHA:910|RGD:8699517 IAGP H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230821 HPO RGD 1313986 XPC HP:0100615 PMID:25741868|RGD:8554872 IAGP RGD:156019528 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230411 ClinVar RGD 1313986 XPC HP:0100615 PMID:25741868|RGD:8554872 IAGP RGD:243054474 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230411 ClinVar RGD 1313986 XPC HP:0100615 PMID:25741868|RGD:8554872 IAGP RGD:243054520 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230411 ClinVar RGD 1313986 XPC HP:0100615 PMID:25741868|RGD:8554872 IAGP RGD:243054758 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20230411 ClinVar RGD 1313986 XPC HP:0100615 PMID:28492532|RGD:8554872 IAGP RGD:11666856 H XPC complex subunit, DNA damage recognition and repair factor gene taxon:9606 20260519 ClinVar RGD 1313988 MYLIP HP:0100242 RGD:8554872 IAGP RGD:713722682 H myosin regulatory light chain interacting protein gene taxon:9606 20260519 ClinVar RGD 1313990 EBNA1BP2 HP:0001402 RGD:8554872 IAGP RGD:714260328 H EBNA1 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313990 EBNA1BP2 HP:0002861 RGD:8554872 IAGP RGD:713997023 H EBNA1 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313990 EBNA1BP2 HP:0002861 RGD:8554872 IAGP RGD:714265434 H EBNA1 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313990 EBNA1BP2 HP:0030153 RGD:8554872 IAGP RGD:713931142 H EBNA1 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313990 EBNA1BP2 HP:0100615 RGD:8554872 IAGP RGD:714189822 H EBNA1 binding protein 2 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0000006 MIM:614098|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0000194 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0000212 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0000218 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0000218 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0000252 MIM:614098|ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250416 HPO RGD 1313992 KCNJ6 HP:0000276 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0000290 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313992 KCNJ6 HP:0000292 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313992 KCNJ6 HP:0000298 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313992 KCNJ6 HP:0000322 MIM:614098|ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250416 HPO RGD 1313992 KCNJ6 HP:0000347 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0000430 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0000446 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0000496 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313992 KCNJ6 HP:0000520 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0000545 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0000586 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0001090 MIM:614098|ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250416 HPO RGD 1313992 KCNJ6 HP:0001249 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313992 KCNJ6 HP:0001250 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0001250 RGD:8554872 IAGP RGD:151663661 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0001263 MIM:614098|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0001276 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0001285 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0001347 MIM:614098|ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250416 HPO RGD 1313992 KCNJ6 HP:0001371 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0001371 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0001508 MIM:614098|ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250416 HPO RGD 1313992 KCNJ6 HP:0001558 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0001561 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0001762 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0002011 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0002093 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0002094 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313992 KCNJ6 HP:0002099 RGD:8554872 IAGP RGD:151663661 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0002179 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0002187 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313992 KCNJ6 HP:0002194 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0002373 MIM:614098|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0002415 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0002643 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0002650 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0002659 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313992 KCNJ6 HP:0002781 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0002803 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0002804 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0003292 MIM:614098|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0003577 MIM:614098|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0005274 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313992 KCNJ6 HP:0005320 MIM:614098|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0005328 MIM:614098|ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250416 HPO RGD 1313992 KCNJ6 HP:0005745 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0005781 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0006532 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0006956 MIM:614098|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0007485 MIM:614098|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0008734 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313992 KCNJ6 HP:0008897 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313992 KCNJ6 HP:0009059 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313992 KCNJ6 HP:0009064 MIM:614098|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0009125 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313992 KCNJ6 HP:0009933 MIM:614098|ORPHA:435628|PMID:25620207|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250912 HPO RGD 1313992 KCNJ6 HP:0010751 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313992 KCNJ6 HP:0010804 MIM:614098|ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20250416 HPO RGD 1313992 KCNJ6 HP:0010862 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0010864 MIM:614098|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260209 HPO RGD 1313992 KCNJ6 HP:0011229 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0011344 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313992 KCNJ6 HP:0011797 RGD:8554872 IAGP RGD:713963713 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0025335 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0025336 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0031936 PMID:25741868|RGD:8554872 IAGP RGD:243063855 H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20260519 ClinVar RGD 1313992 KCNJ6 HP:0100678 ORPHA:435628|RGD:8699517 IAGP H potassium inwardly rectifying channel subfamily J member 6 gene taxon:9606 20230821 HPO RGD 1313993 NUSAP1 HP:0000252 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597958854 H nucleolar and spindle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313993 NUSAP1 HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597958854 H nucleolar and spindle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313993 NUSAP1 HP:0001250 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597958854 H nucleolar and spindle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313993 NUSAP1 HP:0001274 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597958854 H nucleolar and spindle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313993 NUSAP1 HP:0001302 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597958854 H nucleolar and spindle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313993 NUSAP1 HP:0001513 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597958854 H nucleolar and spindle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313993 NUSAP1 HP:0004322 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597958854 H nucleolar and spindle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313993 NUSAP1 HP:0004808 RGD:8554872 IAGP RGD:713551093 H nucleolar and spindle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313993 NUSAP1 HP:0011344 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597958854 H nucleolar and spindle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313993 NUSAP1 HP:0011797 RGD:8554872 IAGP RGD:714163113 H nucleolar and spindle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313993 NUSAP1 HP:0012443 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597958854 H nucleolar and spindle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313993 NUSAP1 HP:0100522 RGD:8554872 IAGP RGD:713733725 H nucleolar and spindle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313993 NUSAP1 HP:0100547 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597958854 H nucleolar and spindle associated protein 1 gene taxon:9606 20260519 ClinVar RGD 1313995 HBQ1 HP:0100522 RGD:8554872 IAGP RGD:714043851 H hemoglobin subunit theta 1 gene taxon:9606 20260519 ClinVar RGD 1313996 NUDT21 HP:0100526 RGD:8554872 IAGP RGD:713712669 H nudix hydrolase 21 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0000007 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0000158 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0000218 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0000252 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0000276 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0000463 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0000486 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0000565 RGD:8554872 IAGP RGD:405000265 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0000639 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0000648 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0000666 RGD:8554872 IAGP RGD:405000265 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0001249 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0001250 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0001252 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0001257 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0001257 RGD:8554872 IAGP RGD:405000265 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0001263 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0001263 RGD:8554872 IAGP RGD:405000265 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0001270 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0001272 RGD:8554872 IAGP RGD:405000265 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0001320 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0001402 RGD:8554872 IAGP RGD:713747499 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0001402 RGD:8554872 IAGP RGD:714047987 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0001402 RGD:8554872 IAGP RGD:714264064 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0001508 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0001518 RGD:8554872 IAGP RGD:405000265 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0001558 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0001786 RGD:8554872 IAGP RGD:405000265 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0002020 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0002059 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0002181 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0002509 RGD:8554872 IAGP RGD:405000265 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0002719 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0002861 RGD:8554872 IAGP RGD:713682620 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0003593 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0003693 RGD:8554872 IAGP RGD:405000265 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0004283 RGD:8554872 IAGP RGD:405000265 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0004808 RGD:8554872 IAGP RGD:714045347 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0006770 RGD:8554872 IAGP RGD:713683441 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0006855 RGD:8554872 IAGP RGD:405000265 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0007178 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0007371 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0008883 RGD:8554872 IAGP RGD:405000265 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0008936 RGD:8554872 IAGP RGD:405000265 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0011344 RGD:8554872 IAGP RGD:405000265 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0011461 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0011968 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0012126 RGD:8554872 IAGP RGD:713523863 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0012126 RGD:8554872 IAGP RGD:713523876 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0012126 RGD:8554872 IAGP RGD:713523887 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0030359 RGD:8554872 IAGP RGD:713682594 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0100021 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1313998 CPSF3 HP:0100242 RGD:8554872 IAGP RGD:713683416 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0100242 RGD:8554872 IAGP RGD:714045347 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0100522 RGD:8554872 IAGP RGD:713682910 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0100526 RGD:8554872 IAGP RGD:713682504 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0100526 RGD:8554872 IAGP RGD:713682642 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0100526 RGD:8554872 IAGP RGD:713683082 H cleavage and polyadenylation specific factor 3 gene taxon:9606 20260519 ClinVar RGD 1313998 CPSF3 HP:0100704 MIM:619876|PMID:35121750|RGD:8699517 IAGP H cleavage and polyadenylation specific factor 3 gene taxon:9606 20250912 HPO RGD 1314001 PINK1 HP:0000007 MIM:605909|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0000012 MIM:605909|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0000551 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0000651 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0000713 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0000716 MIM:605909|ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20250416 HPO RGD 1314001 PINK1 HP:0000726 MIM:605909|ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20250416 HPO RGD 1314001 PINK1 HP:0000727 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0000736 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0000738 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0000739 MIM:605909|ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20250416 HPO RGD 1314001 PINK1 HP:0000741 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0001257 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0001300 MIM:605909|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0001300 PMID:24033266|RGD:8554872 IAGP RGD:10042527 H PTEN induced kinase 1 gene taxon:9606 20260519 ClinVar RGD 1314001 PINK1 HP:0001332 MIM:605909|ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20250416 HPO RGD 1314001 PINK1 HP:0001337 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0001337 PMID:25741868|RGD:8554872 IAGP RGD:401919876 H PTEN induced kinase 1 gene taxon:9606 20260519 ClinVar RGD 1314001 PINK1 HP:0001347 MIM:605909|ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20250416 HPO RGD 1314001 PINK1 HP:0002014 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0002018 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0002019 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0002061 PMID:25741868|RGD:8554872 IAGP RGD:401919876 H PTEN induced kinase 1 gene taxon:9606 20260519 ClinVar RGD 1314001 PINK1 HP:0002063 MIM:605909|ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20250416 HPO RGD 1314001 PINK1 HP:0002067 MIM:605909|ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20250416 HPO RGD 1314001 PINK1 HP:0002067 PMID:25741868|RGD:8554872 IAGP RGD:401919876 H PTEN induced kinase 1 gene taxon:9606 20260519 ClinVar RGD 1314001 PINK1 HP:0002141 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0002172 MIM:605909|ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20250416 HPO RGD 1314001 PINK1 HP:0002322 MIM:605909|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0002493 PMID:25741868|PMID:27926857|PMID:31324919|RGD:8554872 IAGP RGD:405866763 H PTEN induced kinase 1 gene taxon:9606 20260519 ClinVar RGD 1314001 PINK1 HP:0002578 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0003394 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0003593 MIM:605909|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0003677 MIM:605909|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0004409 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0012126 RGD:8554872 IAGP RGD:713726122 H PTEN induced kinase 1 gene taxon:9606 20260519 ClinVar RGD 1314001 PINK1 HP:0012126 RGD:8554872 IAGP RGD:713726176 H PTEN induced kinase 1 gene taxon:9606 20260519 ClinVar RGD 1314001 PINK1 HP:0012332 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0012452 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0012760 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20240307 HPO RGD 1314001 PINK1 HP:0025269 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0030014 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0040307 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0100543 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0100660 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0100710 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314001 PINK1 HP:0100785 ORPHA:2828|RGD:8699517 IAGP H PTEN induced kinase 1 gene taxon:9606 20230821 HPO RGD 1314003 RBM22 HP:0002861 RGD:8554872 IAGP RGD:713893402 H RNA binding motif protein 22 gene taxon:9606 20260519 ClinVar RGD 1314003 RBM22 HP:0002861 RGD:8554872 IAGP RGD:713893418 H RNA binding motif protein 22 gene taxon:9606 20260519 ClinVar RGD 1314003 RBM22 HP:0002861 RGD:8554872 IAGP RGD:713893553 H RNA binding motif protein 22 gene taxon:9606 20260519 ClinVar RGD 1314003 RBM22 HP:0004808 RGD:8554872 IAGP RGD:714163919 H RNA binding motif protein 22 gene taxon:9606 20260519 ClinVar RGD 1314003 RBM22 HP:0006770 RGD:8554872 IAGP RGD:713893479 H RNA binding motif protein 22 gene taxon:9606 20260519 ClinVar RGD 1314003 RBM22 HP:0006770 RGD:8554872 IAGP RGD:713893512 H RNA binding motif protein 22 gene taxon:9606 20260519 ClinVar RGD 1314003 RBM22 HP:0006770 RGD:8554872 IAGP RGD:714118418 H RNA binding motif protein 22 gene taxon:9606 20260519 ClinVar RGD 1314003 RBM22 HP:0012126 RGD:8554872 IAGP RGD:713930016 H RNA binding motif protein 22 gene taxon:9606 20260519 ClinVar RGD 1314010 YAF2 HP:0100242 RGD:8554872 IAGP RGD:713851092 H YY1 associated factor 2 gene taxon:9606 20260519 ClinVar RGD 1314010 YAF2 HP:0100522 RGD:8554872 IAGP RGD:713624185 H YY1 associated factor 2 gene taxon:9606 20260707 ClinVar RGD 1314010 YAF2 HP:0100522 RGD:8554872 IAGP RGD:713851054 H YY1 associated factor 2 gene taxon:9606 20260519 ClinVar RGD 1314010 YAF2 HP:0100522 RGD:8554872 IAGP RGD:713851123 H YY1 associated factor 2 gene taxon:9606 20260519 ClinVar RGD 1314013 INPP5F HP:0002861 RGD:8554872 IAGP RGD:713362188 H inositol polyphosphate-5-phosphatase F gene taxon:9606 20260519 ClinVar RGD 1314013 INPP5F HP:0002861 RGD:8554872 IAGP RGD:713362245 H inositol polyphosphate-5-phosphatase F gene taxon:9606 20260519 ClinVar RGD 1314013 INPP5F HP:0002861 RGD:8554872 IAGP RGD:713362309 H inositol polyphosphate-5-phosphatase F gene taxon:9606 20260519 ClinVar RGD 1314013 INPP5F HP:0002861 RGD:8554872 IAGP RGD:714180434 H inositol polyphosphate-5-phosphatase F gene taxon:9606 20260519 ClinVar RGD 1314013 INPP5F HP:0005181 RGD:8554872 IAGP RGD:714007417 H inositol polyphosphate-5-phosphatase F gene taxon:9606 20260519 ClinVar RGD 1314013 INPP5F HP:0012126 RGD:8554872 IAGP RGD:713736055 H inositol polyphosphate-5-phosphatase F gene taxon:9606 20260519 ClinVar RGD 1314013 INPP5F HP:0012126 RGD:8554872 IAGP RGD:713736080 H inositol polyphosphate-5-phosphatase F gene taxon:9606 20260519 ClinVar RGD 1314013 INPP5F HP:0033678 RGD:8554872 IAGP RGD:714007417 H inositol polyphosphate-5-phosphatase F gene taxon:9606 20260519 ClinVar RGD 1314013 INPP5F HP:0100522 RGD:8554872 IAGP RGD:713736106 H inositol polyphosphate-5-phosphatase F gene taxon:9606 20260519 ClinVar RGD 1314017 TIGD4 HP:0004808 RGD:8554872 IAGP RGD:713933203 H tigger transposable element derived 4 gene taxon:9606 20260519 ClinVar RGD 1314017 TIGD4 HP:0004808 RGD:8554872 IAGP RGD:713937080 H tigger transposable element derived 4 gene taxon:9606 20260519 ClinVar RGD 1314017 TIGD4 HP:0006770 RGD:8554872 IAGP RGD:714235615 H tigger transposable element derived 4 gene taxon:9606 20260519 ClinVar RGD 1314019 SNX10 HP:0000007 MIM:615085|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20260209 HPO RGD 1314019 SNX10 HP:0000238 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0000238 PMID:25741868|RGD:8554872 IAGP RGD:596922174 H sorting nexin 10 gene taxon:9606 20260519 ClinVar RGD 1314019 SNX10 HP:0000256 MIM:615085|ORPHA:667|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20250912 HPO RGD 1314019 SNX10 HP:0000365 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20251023 HPO RGD 1314019 SNX10 HP:0000388 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0000505 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0000572 MIM:615085|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20250912 HPO RGD 1314019 SNX10 HP:0000618 PMID:25741868|RGD:8554872 IAGP RGD:596922174 H sorting nexin 10 gene taxon:9606 20260519 ClinVar RGD 1314019 SNX10 HP:0000639 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0000648 MIM:615085|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20250912 HPO RGD 1314019 SNX10 HP:0000649 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0000684 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0000772 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0000774 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20260209 HPO RGD 1314019 SNX10 HP:0000944 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0000978 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0000980 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0001337 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0001363 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0001508 MIM:615085|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20250912 HPO RGD 1314019 SNX10 HP:0001510 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0001641 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0001744 MIM:615085|ORPHA:667|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20250912 HPO RGD 1314019 SNX10 HP:0001873 MIM:615085|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20250912 HPO RGD 1314019 SNX10 HP:0001903 MIM:615085|ORPHA:667|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20251023 HPO RGD 1314019 SNX10 HP:0001903 PMID:25741868|RGD:8554872 IAGP RGD:596922174 H sorting nexin 10 gene taxon:9606 20260519 ClinVar RGD 1314019 SNX10 HP:0001939 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0002007 MIM:615085|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20250912 HPO RGD 1314019 SNX10 HP:0002092 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0002104 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0002148 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0002205 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0002240 MIM:615085|ORPHA:667|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20250912 HPO RGD 1314019 SNX10 HP:0002257 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0002653 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0002665 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15105726 H sorting nexin 10 gene taxon:9606 20260519 ClinVar RGD 1314019 SNX10 HP:0002716 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0002757 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0002901 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0003593 MIM:615085|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20250912 HPO RGD 1314019 SNX10 HP:0004349 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0004370 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0004415 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0004808 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15105726 H sorting nexin 10 gene taxon:9606 20260519 ClinVar RGD 1314019 SNX10 HP:0005930 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0006323 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0006487 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0006770 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15105726 H sorting nexin 10 gene taxon:9606 20260519 ClinVar RGD 1314019 SNX10 HP:0006824 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0007807 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20251023 HPO RGD 1314019 SNX10 HP:0008066 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0010543 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0010628 MIM:615085|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20250912 HPO RGD 1314019 SNX10 HP:0010719 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0011002 MIM:615085|ORPHA:667|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20250912 HPO RGD 1314019 SNX10 HP:0011002 PMID:25741868|RGD:8554872 IAGP RGD:596922174 H sorting nexin 10 gene taxon:9606 20260519 ClinVar RGD 1314019 SNX10 HP:0011002 PMID:25741868|RGD:8554872 IAGP RGD:596944751 H sorting nexin 10 gene taxon:9606 20250107 ClinVar RGD 1314019 SNX10 HP:0011463 MIM:615085|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20250912 HPO RGD 1314019 SNX10 HP:0011480 MIM:615085|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20250912 HPO RGD 1314019 SNX10 HP:0011968 MIM:615085|PMID:22499339|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20250912 HPO RGD 1314019 SNX10 HP:0012126 RGD:8554872 IAGP RGD:713661826 H sorting nexin 10 gene taxon:9606 20260519 ClinVar RGD 1314019 SNX10 HP:0030153 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15105726 H sorting nexin 10 gene taxon:9606 20260519 ClinVar RGD 1314019 SNX10 HP:0100022 ORPHA:667|RGD:8699517 IAGP H sorting nexin 10 gene taxon:9606 20230821 HPO RGD 1314019 SNX10 HP:0100242 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15105726 H sorting nexin 10 gene taxon:9606 20260519 ClinVar RGD 1314019 SNX10 HP:0100526 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15105726 H sorting nexin 10 gene taxon:9606 20260519 ClinVar RGD 1314019 SNX10 HP:0100615 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15105726 H sorting nexin 10 gene taxon:9606 20260519 ClinVar RGD 1314021 HMGXB4 HP:0001402 RGD:8554872 IAGP RGD:713372894 H HMG-box containing 4 gene taxon:9606 20260519 ClinVar RGD 1314021 HMGXB4 HP:0001402 RGD:8554872 IAGP RGD:713372912 H HMG-box containing 4 gene taxon:9606 20260519 ClinVar RGD 1314021 HMGXB4 HP:0001402 RGD:8554872 IAGP RGD:713372937 H HMG-box containing 4 gene taxon:9606 20260519 ClinVar RGD 1314021 HMGXB4 HP:0002861 RGD:8554872 IAGP RGD:713744710 H HMG-box containing 4 gene taxon:9606 20260519 ClinVar RGD 1314023 ELMO2 HP:0000007 MIM:606893|PMID:27476657|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20250912 HPO RGD 1314023 ELMO2 HP:0000169 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0000189 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0000225 MIM:606893|PMID:27476657|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20250912 HPO RGD 1314023 ELMO2 HP:0000225 PMID:25741868|RGD:8554872 IAGP RGD:152999235 H engulfment and cell motility 2 gene taxon:9606 20260519 ClinVar RGD 1314023 ELMO2 HP:0000293 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0000324 MIM:606893|PMID:27476657|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20250912 HPO RGD 1314023 ELMO2 HP:0000405 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0000407 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0000421 PMID:25741868|RGD:8554872 IAGP RGD:152999235 H engulfment and cell motility 2 gene taxon:9606 20260519 ClinVar RGD 1314023 ELMO2 HP:0000520 MIM:606893|PMID:27476657|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20250912 HPO RGD 1314023 ELMO2 HP:0000572 MIM:606893|PMID:27476657|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20250912 HPO RGD 1314023 ELMO2 HP:0000593 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0000682 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0000684 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0000819 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0000962 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0001028 PMID:25741868|RGD:8554872 IAGP RGD:155268125 H engulfment and cell motility 2 gene taxon:9606 20260519 ClinVar RGD 1314023 ELMO2 HP:0001249 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0001250 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0001508 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0001537 MIM:606893|PMID:27476657|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20250912 HPO RGD 1314023 ELMO2 HP:0001540 MIM:606893|PMID:27476657|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20250912 HPO RGD 1314023 ELMO2 HP:0001873 PMID:25741868|RGD:8554872 IAGP RGD:155268125 H engulfment and cell motility 2 gene taxon:9606 20260519 ClinVar RGD 1314023 ELMO2 HP:0001931 MIM:606893|PMID:27476657|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20250912 HPO RGD 1314023 ELMO2 HP:0002230 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0002516 MIM:606893|PMID:27476657|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20250912 HPO RGD 1314023 ELMO2 HP:0002797 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0002861 RGD:8554872 IAGP RGD:713968268 H engulfment and cell motility 2 gene taxon:9606 20260519 ClinVar RGD 1314023 ELMO2 HP:0003003 RGD:8554872 IAGP RGD:713968202 H engulfment and cell motility 2 gene taxon:9606 20260519 ClinVar RGD 1314023 ELMO2 HP:0003155 MIM:606893|PMID:27476657|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20250912 HPO RGD 1314023 ELMO2 HP:0003676 MIM:606893|PMID:27476657|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20250912 HPO RGD 1314023 ELMO2 HP:0004808 RGD:8554872 IAGP RGD:713966210 H engulfment and cell motility 2 gene taxon:9606 20260519 ClinVar RGD 1314023 ELMO2 HP:0006770 RGD:8554872 IAGP RGD:713968252 H engulfment and cell motility 2 gene taxon:9606 20260519 ClinVar RGD 1314023 ELMO2 HP:0007703 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0011797 RGD:8554872 IAGP RGD:713966226 H engulfment and cell motility 2 gene taxon:9606 20260519 ClinVar RGD 1314023 ELMO2 HP:0012126 RGD:8554872 IAGP RGD:713778820 H engulfment and cell motility 2 gene taxon:9606 20260519 ClinVar RGD 1314023 ELMO2 HP:0030153 RGD:8554872 IAGP RGD:713966210 H engulfment and cell motility 2 gene taxon:9606 20260519 ClinVar RGD 1314023 ELMO2 HP:0100242 RGD:8554872 IAGP RGD:713968276 H engulfment and cell motility 2 gene taxon:9606 20260519 ClinVar RGD 1314023 ELMO2 HP:0100522 RGD:8554872 IAGP RGD:713966210 H engulfment and cell motility 2 gene taxon:9606 20260519 ClinVar RGD 1314023 ELMO2 HP:0100585 ORPHA:3019|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20230821 HPO RGD 1314023 ELMO2 HP:0410276 MIM:606893|PMID:27476657|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20250912 HPO RGD 1314023 ELMO2 HP:4000093 MIM:606893|PMID:27476657|RGD:8699517 IAGP H engulfment and cell motility 2 gene taxon:9606 20250912 HPO RGD 1314025 MANBA HP:0000007 MIM:248510|PMID:9384606|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20260209 HPO RGD 1314025 MANBA HP:0000194 RGD:8554872 IAGP RGD:405867353 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000256 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13497479 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000276 RGD:8554872 IAGP RGD:405867353 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000288 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13497479 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000365 MIM:248510|ORPHA:118|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20251023 HPO RGD 1314025 MANBA HP:0000365 PMID:12468273|PMID:16199547|PMID:18565776|PMID:25741868|PMID:28492532|PMID:30872814|PMID:32847582|PMID:9384606|RGD:8554872 IAGP RGD:14352690 H mannosidase beta gene taxon:9606 20260602 ClinVar RGD 1314025 MANBA HP:0000365 PMID:12468273|PMID:16199547|PMID:28492532|PMID:9384606|RGD:8554872 IAGP RGD:13820843 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000365 PMID:18565776|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8556385 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:616937491 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000365 RGD:8554872 IAGP RGD:714054043 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000391 RGD:8554872 IAGP RGD:405867353 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000503 MIM:248510|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20230821 HPO RGD 1314025 MANBA HP:0000582 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13497479 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:408365202 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000717 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150547285 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000718 MIM:248510|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20230821 HPO RGD 1314025 MANBA HP:0000729 PMID:18565776|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8556385 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:616937491 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000750 RGD:8554872 IAGP RGD:405867353 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000750 RGD:8554872 IAGP RGD:405869610 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0000752 MIM:248510|PMID:18565776|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20250912 HPO RGD 1314025 MANBA HP:0000973 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13497479 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0001014 MIM:248510|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20230821 HPO RGD 1314025 MANBA HP:0001249 MIM:248510|ORPHA:118|PMID:18565776|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20260209 HPO RGD 1314025 MANBA HP:0001249 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:28870302 H mannosidase beta gene taxon:9606 20230214 ClinVar RGD 1314025 MANBA HP:0001249 PMID:18980795|PMID:19728872|PMID:22369051|PMID:25741868|PMID:28492532|PMID:30552791|RGD:8554872 IAGP RGD:38596885 H mannosidase beta gene taxon:9606 20241112 ClinVar RGD 1314025 MANBA HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38596887 H mannosidase beta gene taxon:9606 20210406 ClinVar RGD 1314025 MANBA HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38596886 H mannosidase beta gene taxon:9606 20210323 ClinVar RGD 1314025 MANBA HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38596888 H mannosidase beta gene taxon:9606 20210323 ClinVar RGD 1314025 MANBA HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38596889 H mannosidase beta gene taxon:9606 20210323 ClinVar RGD 1314025 MANBA HP:0001250 MIM:248510|ORPHA:118|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20250416 HPO RGD 1314025 MANBA HP:0001250 PMID:25741868|PMID:28492532|PMID:31115173|RGD:8554872 IAGP RGD:151807090 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0001252 MIM:248510|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20260209 HPO RGD 1314025 MANBA HP:0001252 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13497479 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0001256 PMID:18565776|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8556385 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:616937491 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0001263 PMID:25741868|PMID:28492532|PMID:31115173|RGD:8554872 IAGP RGD:151807090 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0001263 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13497479 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0001263 RGD:8554872 IAGP RGD:405867353 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0001272 PMID:25741868|PMID:28492532|PMID:31115173|RGD:8554872 IAGP RGD:151807090 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0001288 RGD:8554872 IAGP RGD:714054043 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0001290 MIM:248510|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20230821 HPO RGD 1314025 MANBA HP:0001324 RGD:8554872 IAGP RGD:714054043 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0001402 PMID:28492532|RGD:8554872 IAGP RGD:155930234 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0001612 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13497479 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0001999 MIM:248510|ORPHA:118|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20250416 HPO RGD 1314025 MANBA HP:0002033 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13497479 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0002066 PMID:25741868|PMID:28492532|PMID:31115173|RGD:8554872 IAGP RGD:151807090 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0002167 MIM:248510|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20230821 HPO RGD 1314025 MANBA HP:0002205 ORPHA:118|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20230821 HPO RGD 1314025 MANBA HP:0002376 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150547285 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0002474 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150547285 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0002474 RGD:8554872 IAGP RGD:405867353 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0002650 RGD:8554872 IAGP RGD:714054043 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0002665 RGD:8554872 IAGP RGD:713408679 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0002719 MIM:248510|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20230821 HPO RGD 1314025 MANBA HP:0003473 RGD:8554872 IAGP RGD:714054043 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0003593 MIM:248510|PMID:18565776|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20250912 HPO RGD 1314025 MANBA HP:0004401 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13497479 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0004808 PMID:28492532|RGD:8554872 IAGP RGD:152135496 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0004808 RGD:8554872 IAGP RGD:713738459 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0005247 ORPHA:118|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20230821 HPO RGD 1314025 MANBA HP:0005268 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13497479 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0007018 PMID:18565776|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8556385 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0007018 PMID:25741868|RGD:8554872 IAGP RGD:616937491 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0007108 MIM:248510|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20230821 HPO RGD 1314025 MANBA HP:0008625 PMID:25741868|PMID:28492532|PMID:31115173|RGD:8554872 IAGP RGD:151807090 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0009904 RGD:8554872 IAGP RGD:405867353 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0010863 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150547285 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0010992 RGD:8554872 IAGP RGD:714054043 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0011039 RGD:8554872 IAGP RGD:405867353 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0011797 RGD:8554872 IAGP RGD:713926313 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0011822 RGD:8554872 IAGP RGD:405867353 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0012066 MIM:248510|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20230821 HPO RGD 1314025 MANBA HP:0012126 PMID:12468273|PMID:16199547|PMID:18565776|PMID:25741868|PMID:28492532|PMID:30872814|PMID:32847582|PMID:9384606|RGD:8554872 IAGP RGD:14352690 H mannosidase beta gene taxon:9606 20260602 ClinVar RGD 1314025 MANBA HP:0012126 RGD:8554872 IAGP RGD:713942968 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0012126 RGD:8554872 IAGP RGD:713942979 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0012432 PMID:2079835|PMID:25741868|RGD:8554872 IAGP RGD:714262965 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0012760 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150547285 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0034367 MIM:248510|PMID:18565776|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20250912 HPO RGD 1314025 MANBA HP:0100242 PMID:28492532|RGD:8554872 IAGP RGD:15189577 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0100242 RGD:8554872 IAGP RGD:713408447 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0100242 RGD:8554872 IAGP RGD:713408701 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0100522 PMID:28492532|RGD:8554872 IAGP RGD:15189577 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0100526 PMID:12468273|PMID:16199547|PMID:28492532|PMID:9384606|RGD:8554872 IAGP RGD:405021855 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:0100760 RGD:8554872 IAGP RGD:714054043 H mannosidase beta gene taxon:9606 20260519 ClinVar RGD 1314025 MANBA HP:4000205 MIM:248510|PMID:18565776|RGD:8699517 IAGP H mannosidase beta gene taxon:9606 20250912 HPO RGD 1314029 AGPAT3 HP:0001249 RGD:8554872 IAGP RGD:401946567 H 1-acylglycerol-3-phosphate O-acyltransferase 3 gene taxon:9606 20240109 ClinVar RGD 1314029 AGPAT3 HP:0004808 RGD:8554872 IAGP RGD:713967751 H 1-acylglycerol-3-phosphate O-acyltransferase 3 gene taxon:9606 20260519 ClinVar RGD 1314029 AGPAT3 HP:0004808 RGD:8554872 IAGP RGD:713967760 H 1-acylglycerol-3-phosphate O-acyltransferase 3 gene taxon:9606 20260519 ClinVar RGD 1314029 AGPAT3 HP:0012126 RGD:8554872 IAGP RGD:713784791 H 1-acylglycerol-3-phosphate O-acyltransferase 3 gene taxon:9606 20260519 ClinVar RGD 1314029 AGPAT3 HP:0100242 RGD:8554872 IAGP RGD:713870326 H 1-acylglycerol-3-phosphate O-acyltransferase 3 gene taxon:9606 20260519 ClinVar RGD 1314031 SCMH1 HP:0001402 RGD:8554872 IAGP RGD:713739481 H Scm polycomb group protein homolog 1 gene taxon:9606 20260519 ClinVar RGD 1314031 SCMH1 HP:0004808 RGD:8554872 IAGP RGD:714184747 H Scm polycomb group protein homolog 1 gene taxon:9606 20260519 ClinVar RGD 1314031 SCMH1 HP:0004808 RGD:8554872 IAGP RGD:714186065 H Scm polycomb group protein homolog 1 gene taxon:9606 20260519 ClinVar RGD 1314031 SCMH1 HP:0006770 RGD:8554872 IAGP RGD:714112231 H Scm polycomb group protein homolog 1 gene taxon:9606 20260519 ClinVar RGD 1314031 SCMH1 HP:0012126 RGD:8554872 IAGP RGD:713713285 H Scm polycomb group protein homolog 1 gene taxon:9606 20260519 ClinVar RGD 1314031 SCMH1 HP:0030153 RGD:8554872 IAGP RGD:713737354 H Scm polycomb group protein homolog 1 gene taxon:9606 20260519 ClinVar RGD 1314031 SCMH1 HP:0030359 RGD:8554872 IAGP RGD:713737436 H Scm polycomb group protein homolog 1 gene taxon:9606 20260519 ClinVar RGD 1314031 SCMH1 HP:0100242 RGD:8554872 IAGP RGD:713738068 H Scm polycomb group protein homolog 1 gene taxon:9606 20260519 ClinVar RGD 1314031 SCMH1 HP:0100526 RGD:8554872 IAGP RGD:713737277 H Scm polycomb group protein homolog 1 gene taxon:9606 20260519 ClinVar RGD 1314033 WDR1 HP:0000007 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0000230 PMID:25741868|PMID:27557945|RGD:8554872 IAGP RGD:730466801 H WD repeat domain 1 gene taxon:9606 20260609 ClinVar RGD 1314033 WDR1 HP:0001251 PMID:25741868|PMID:27557945|RGD:8554872 IAGP RGD:730466801 H WD repeat domain 1 gene taxon:9606 20260609 ClinVar RGD 1314033 WDR1 HP:0001328 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0001402 RGD:8554872 IAGP RGD:713773280 H WD repeat domain 1 gene taxon:9606 20260519 ClinVar RGD 1314033 WDR1 HP:0001402 RGD:8554872 IAGP RGD:713773291 H WD repeat domain 1 gene taxon:9606 20260519 ClinVar RGD 1314033 WDR1 HP:0001744 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0001873 PMID:25741868|PMID:27557945|RGD:8554872 IAGP RGD:730466801 H WD repeat domain 1 gene taxon:9606 20260609 ClinVar RGD 1314033 WDR1 HP:0001875 MIM:150550|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20230821 HPO RGD 1314033 WDR1 HP:0001954 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0002014 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0002110 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0002716 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0002719 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0002721 PMID:25741868|PMID:27557945|RGD:8554872 IAGP RGD:730466801 H WD repeat domain 1 gene taxon:9606 20260609 ClinVar RGD 1314033 WDR1 HP:0002861 RGD:8554872 IAGP RGD:713406545 H WD repeat domain 1 gene taxon:9606 20260519 ClinVar RGD 1314033 WDR1 HP:0004808 RGD:8554872 IAGP RGD:713738277 H WD repeat domain 1 gene taxon:9606 20260519 ClinVar RGD 1314033 WDR1 HP:0004854 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0006532 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0006770 PMID:28492532|RGD:8554872 IAGP RGD:714080969 H WD repeat domain 1 gene taxon:9606 20260519 ClinVar RGD 1314033 WDR1 HP:0006770 RGD:8554872 IAGP RGD:713405822 H WD repeat domain 1 gene taxon:9606 20260519 ClinVar RGD 1314033 WDR1 HP:0006770 RGD:8554872 IAGP RGD:713405978 H WD repeat domain 1 gene taxon:9606 20260519 ClinVar RGD 1314033 WDR1 HP:0006770 RGD:8554872 IAGP RGD:713406006 H WD repeat domain 1 gene taxon:9606 20260519 ClinVar RGD 1314033 WDR1 HP:0009098 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0010976 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0011107 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0011797 RGD:8554872 IAGP RGD:713581465 H WD repeat domain 1 gene taxon:9606 20260519 ClinVar RGD 1314033 WDR1 HP:0012126 RGD:8554872 IAGP RGD:713738277 H WD repeat domain 1 gene taxon:9606 20260707 ClinVar RGD 1314033 WDR1 HP:0025452 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0025615 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0030153 RGD:8554872 IAGP RGD:713738277 H WD repeat domain 1 gene taxon:9606 20260707 ClinVar RGD 1314033 WDR1 HP:0031394 MIM:150550|PMID:29751004|RGD:8699517 IAGP H WD repeat domain 1 gene taxon:9606 20250912 HPO RGD 1314033 WDR1 HP:0032323 PMID:25741868|PMID:27557945|RGD:8554872 IAGP RGD:730466801 H WD repeat domain 1 gene taxon:9606 20260609 ClinVar RGD 1314033 WDR1 HP:0100242 RGD:8554872 IAGP RGD:713738189 H WD repeat domain 1 gene taxon:9606 20260707 ClinVar RGD 1314033 WDR1 HP:0100526 RGD:8554872 IAGP RGD:713406488 H WD repeat domain 1 gene taxon:9606 20260519 ClinVar RGD 1314033 WDR1 HP:0100526 RGD:8554872 IAGP RGD:713406596 H WD repeat domain 1 gene taxon:9606 20260519 ClinVar RGD 1314035 PHYHIP HP:0002665 RGD:8554872 IAGP RGD:713611636 H phytanoyl-CoA 2-hydroxylase interacting protein gene taxon:9606 20260519 ClinVar RGD 1314035 PHYHIP HP:0100615 RGD:8554872 IAGP RGD:713611636 H phytanoyl-CoA 2-hydroxylase interacting protein gene taxon:9606 20260519 ClinVar RGD 1314037 SNX8 HP:0002665 RGD:8554872 IAGP RGD:713504075 H sorting nexin 8 gene taxon:9606 20260519 ClinVar RGD 1314037 SNX8 HP:0002861 RGD:8554872 IAGP RGD:713503828 H sorting nexin 8 gene taxon:9606 20260519 ClinVar RGD 1314037 SNX8 HP:0002861 RGD:8554872 IAGP RGD:713504101 H sorting nexin 8 gene taxon:9606 20260519 ClinVar RGD 1314037 SNX8 HP:0002861 RGD:8554872 IAGP RGD:713504118 H sorting nexin 8 gene taxon:9606 20260519 ClinVar RGD 1314037 SNX8 HP:0007716 RGD:8554872 IAGP RGD:714011259 H sorting nexin 8 gene taxon:9606 20260519 ClinVar RGD 1314037 SNX8 HP:0030153 RGD:8554872 IAGP RGD:713505211 H sorting nexin 8 gene taxon:9606 20260519 ClinVar RGD 1314037 SNX8 HP:0100522 RGD:8554872 IAGP RGD:713504051 H sorting nexin 8 gene taxon:9606 20260519 ClinVar RGD 1314037 SNX8 HP:0100526 RGD:8554872 IAGP RGD:713504051 H sorting nexin 8 gene taxon:9606 20260519 ClinVar RGD 1314037 SNX8 HP:0100615 RGD:8554872 IAGP RGD:713504171 H sorting nexin 8 gene taxon:9606 20260519 ClinVar RGD 1314041 WBP1L HP:0100242 RGD:8554872 IAGP RGD:713784961 H WW domain binding protein 1 like gene taxon:9606 20260519 ClinVar RGD 1314041 WBP1L HP:0100242 RGD:8554872 IAGP RGD:713784972 H WW domain binding protein 1 like gene taxon:9606 20260519 ClinVar RGD 1314041 WBP1L HP:0100522 RGD:8554872 IAGP RGD:713784937 H WW domain binding protein 1 like gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000006 MIM:607450|MIM:612908|MIM:615821|PMID:12373648|PMID:16628197|PMID:9887343|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0000007 MIM:605676|MIM:609638|PMID:16175511|PMID:9738775|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0000014 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000014 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000080 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000163 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000164 MIM:612908|PMID:9887343|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0000175 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0000301 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000360 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000377 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0000407 ORPHA:154|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0000421 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000496 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000496 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000504 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000540 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000540 PMID:27532257|PMID:28492532|PMID:28527814|RGD:8554872 IAGP RGD:156301165 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000545 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000545 PMID:27532257|PMID:28492532|PMID:28527814|RGD:8554872 IAGP RGD:156301165 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000561 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0000653 MIM:605676|PMID:11841538|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0000695 MIM:609638|ORPHA:158687|PMID:16175511|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0000707 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000716 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000722 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000736 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000739 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000739 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000826 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000836 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000836 PMID:27532257|PMID:28492532|PMID:28527814|RGD:8554872 IAGP RGD:156301165 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000853 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000924 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0000953 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000958 PMID:25741868|PMID:26148547|PMID:28492532|RGD:8554872 IAGP RGD:26923189 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000962 MIM:615821|PMID:16628197|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0000966 PMID:25741868|PMID:26148547|PMID:28492532|RGD:8554872 IAGP RGD:26923189 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000968 PMID:25741868|PMID:26148547|PMID:28492532|RGD:8554872 IAGP RGD:26923189 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000969 MIM:605676|ORPHA:154|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250416 HPO RGD 1314043 DSP HP:0000970 PMID:25741868|PMID:26148547|PMID:28492532|RGD:8554872 IAGP RGD:26923189 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000972 MIM:605676|PMID:11841538|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0000978 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0000982 MIM:605676|MIM:612908|MIM:615821|ORPHA:50942|PMID:16628197|PMID:9738775|PMID:9887343|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0000982 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20250708 ClinVar RGD 1314043 DSP HP:0000989 MIM:615821|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0000992 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001030 MIM:605676|ORPHA:158687|PMID:11841538|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0001036 MIM:615821|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0001057 MIM:609638|PMID:16175511|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0001063 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20240118 HPO RGD 1314043 DSP HP:0001072 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001075 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001159 MIM:609638|PMID:20302578|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0001233 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0001263 PMID:25741868|PMID:25741904|PMID:28527814|PMID:31028357|RGD:8554872 IAGP RGD:39456591 H desmoplakin gene taxon:9606 20210907 ClinVar RGD 1314043 DSP HP:0001279 MIM:615821|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0001279 RGD:8554872 IAGP RGD:714062912 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001290 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001382 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001385 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001392 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001402 RGD:8554872 IAGP RGD:713761201 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001508 MIM:605676|PMID:11841538|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0001508 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001511 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0001513 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001513 PMID:27532257|PMID:28492532|PMID:28527814|RGD:8554872 IAGP RGD:156301165 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001562 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0001595 MIM:612908|ORPHA:50942|PMID:9887343|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0001596 MIM:605676|PMID:11841538|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0001596 PMID:25741868|RGD:8554872 IAGP RGD:714141691 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001597 MIM:612908|ORPHA:50942|PMID:9887343|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0001626 MIM:605676|PMID:11841538|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0001626 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001626 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001626 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34895167 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001635 MIM:605676|MIM:607450|ORPHA:154|ORPHA:65282|PMID:12373648|PMID:9738775|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0001638 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0001638 PMID:11063735|PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12881692 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:11841538|PMID:24033266|PMID:25225338|PMID:25741868|PMID:25765472|PMID:27532257|PMID:28472724|PMID:28492532|PMID:30731207|PMID:34352074|RGD:8554872 IAGP RGD:8607814 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:20400443|PMID:20716751|PMID:21606390|PMID:21756917|PMID:21859740|PMID:23137101|PMID:24503780|PMID:25741868|PMID:28492532|PMID:37881594|PMID:38938828|PMID:39285490|RGD:8554872 IAGP RGD:34901263 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:20400443|PMID:21756917|PMID:24901346|PMID:25516398|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28527814|PMID:29062697|PMID:30847666|PMID:32878047|PMID:34640625|PMID:36431211|PMID:36580316|PMID:37904629|RGD:8554872 IAGP RGD:10056756 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:21859740|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28527814|RGD:8554872 IAGP RGD:405756146 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:21859740|PMID:25741868|PMID:28492532|PMID:28527814|RGD:8554872 IAGP RGD:25318807 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:23891292|PMID:25741868|PMID:27532257|PMID:27698334|PMID:28341588|PMID:28492532|PMID:28527814|PMID:29606362|PMID:29885824|PMID:31514951|PMID:32659924|PMID:33313835|PMID:33684294|PMID:35444050|RGD:8554872 IAGP RGD:13807646 H desmoplakin gene taxon:9606 20240507 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|PMID:25825460|PMID:28492532|PMID:28527814|PMID:32005173|RGD:8554872 IAGP RGD:151233836 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|PMID:26656175|PMID:26899768|PMID:28492532|PMID:34368507|PMID:35474678|PMID:36768812|PMID:38938828|RGD:8554872 IAGP RGD:11040353 H desmoplakin gene taxon:9606 20250211 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|PMID:27532257|PMID:28527814|RGD:8554872 IAGP RGD:405072793 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|PMID:27532257|PMID:38938828|RGD:8554872 IAGP RGD:713465033 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|PMID:28492532|PMID:31514951|PMID:32880476|PMID:34194005|PMID:34352074|RGD:8554872 IAGP RGD:9832349 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|PMID:28492532|PMID:32659924|RGD:8554872 IAGP RGD:13798610 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|PMID:28492532|PMID:32931854|RGD:8554872 IAGP RGD:13211963 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892525 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|PMID:35653365|RGD:8554872 IAGP RGD:34899335 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|RGD:8554872 IAGP RGD:151351054 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|RGD:8554872 IAGP RGD:329366338 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|RGD:8554872 IAGP RGD:34893874 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|RGD:8554872 IAGP RGD:405072539 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|RGD:8554872 IAGP RGD:405072665 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|RGD:8554872 IAGP RGD:405072802 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|RGD:8554872 IAGP RGD:405745115 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|RGD:8554872 IAGP RGD:408381732 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|RGD:8554872 IAGP RGD:596942370 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|RGD:8554872 IAGP RGD:713452128 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|RGD:8554872 IAGP RGD:713452964 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:12802069|PMID:21756917|PMID:25741868|RGD:8554872 IAGP RGD:713461574 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:20400443|PMID:20716751|PMID:21606390|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23671136|PMID:24503780|PMID:25741868|PMID:25820315|PMID:27532257|PMID:28442525|PMID:28492532|PMID:28588093|PMID:29759408|PMID:32969603|PMID:35444050|PMID:37461109|RGD:8554872 IAGP RGD:10056754 H desmoplakin gene taxon:9606 20260602 ClinVar RGD 1314043 DSP HP:0001638 PMID:12101406|PMID:21756917|PMID:25741868|PMID:29165669|RGD:8554872 IAGP RGD:405720330 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:15210133|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607757 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:15941723|PMID:20152563|PMID:24070718|PMID:25741868|PMID:26138720|PMID:27532257|PMID:28492532|RGD:8554872 IAGP RGD:14975373 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:16199547|PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|RGD:8554872 IAGP RGD:9690876 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:16199547|PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:29892087|PMID:31131953|PMID:31447099|PMID:31589614|PMID:33684294|PMID:36264615|RGD:8554872 IAGP RGD:12848896 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:16199547|PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:30398466|PMID:31447099|PMID:34352074|RGD:8554872 IAGP RGD:12742376 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:16199547|PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:38254962|RGD:8554872 IAGP RGD:10056698 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:16467215|PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:26383259|PMID:27532257|PMID:28492532|PMID:29062697|PMID:29915097|PMID:30398466|PMID:30993396|PMID:35083019|RGD:8554872 IAGP RGD:8600353 H desmoplakin gene taxon:9606 20241210 ClinVar RGD 1314043 DSP HP:0001638 PMID:16917092|PMID:25733715|PMID:25741868|PMID:26545710|PMID:28492532|RGD:8554872 IAGP RGD:8600355 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:34352074|PMID:9536098|RGD:8554872 IAGP RGD:10056699 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:10056728 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:127325181 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13501063 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:26892313 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:34894643 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:34897948 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:34897959 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:34901167 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:404985388 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:19597050|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28600387|PMID:35352813|RGD:8554872 IAGP RGD:34897751 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:19863551|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13610850 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:19924139|PMID:24341478|PMID:25741868|PMID:26084686|PMID:28492532|PMID:29062697|PMID:30354334|PMID:32005173|PMID:35653365|RGD:8554872 IAGP RGD:9832348 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:19924139|PMID:25741868|PMID:30354334|PMID:36580316|RGD:8554872 IAGP RGD:34898583 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:20031617|PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607755 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:20031617|PMID:25741868|PMID:28492532|PMID:28588093|RGD:8554872 IAGP RGD:156250962 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607783 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:20400443|PMID:20716751|PMID:21606390|PMID:21859740|PMID:22555271|PMID:23137101|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:30398466|PMID:31402444|PMID:33821670|PMID:35653365|PMID:35766183|RGD:8554872 IAGP RGD:8607695 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:20400443|PMID:20716751|PMID:21606390|PMID:21859740|PMID:23137101|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13474666 H desmoplakin gene taxon:9606 20240507 ClinVar RGD 1314043 DSP HP:0001638 PMID:20400443|PMID:20716751|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8602836 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:20400443|PMID:25741868|PMID:28492532|PMID:38895864|RGD:8554872 IAGP RGD:12883509 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:20400443|PMID:27194543|PMID:28492532|PMID:32746448|PMID:35083019|RGD:8554872 IAGP RGD:14689691 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:20525856|PMID:25741868|PMID:28492532|PMID:32880476|RGD:8554872 IAGP RGD:14692571 H desmoplakin gene taxon:9606 20240507 ClinVar RGD 1314043 DSP HP:0001638 PMID:20525856|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126917424 H desmoplakin gene taxon:9606 20250506 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:21606390|PMID:22240500|PMID:24503780|PMID:25227139|PMID:25525159|PMID:25741868|PMID:28492532|PMID:33313835|RGD:8554872 IAGP RGD:9832331 H desmoplakin gene taxon:9606 20260616 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:23137101|PMID:24503780|PMID:24704780|PMID:25227139|PMID:25741868|PMID:26383259|PMID:28436997|PMID:28492532|PMID:29062697|PMID:30398466|PMID:31402444|PMID:31447099|PMID:34930020|RGD:8554872 IAGP RGD:10056732 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:23810894|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25616645|PMID:25741868|PMID:26850880|PMID:27532257|PMID:28492532|PMID:28588093|PMID:29062697|PMID:29633331|PMID:30398466|PMID:31317183|PMID:31319917|PMID:31386562|PMID:31402444|PMID:32372669|PMID:33079602|PMID:34352074|PMID:35151254|PMID:36580316|RGD:8554872 IAGP RGD:8607760 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:23812740|PMID:24503780|PMID:25227139|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29062697|PMID:30398466|RGD:8554872 IAGP RGD:26923227 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29062697|PMID:30398466|PMID:31402444|PMID:31983221|PMID:32372669|PMID:34352074|PMID:36580316|PMID:39288222|RGD:8554872 IAGP RGD:10056774 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:32372669|PMID:35819174|RGD:8554872 IAGP RGD:8607691 H desmoplakin gene taxon:9606 20250506 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25163546|PMID:25227139|PMID:25741868|PMID:28492532|PMID:32826072|RGD:8554872 IAGP RGD:12912919 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25403600|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32522011|PMID:35444050|PMID:37477868|RGD:8554872 IAGP RGD:151846695 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25616645|PMID:25741868|PMID:25820315|PMID:26314686|PMID:28492532|PMID:28588093|PMID:29759408|PMID:30398466|PMID:31386562|PMID:32592540|PMID:33460606|PMID:34352074|PMID:35083019|RGD:8554872 IAGP RGD:10056741 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:26187847|PMID:28492532|PMID:28527814|PMID:30398466|RGD:8554872 IAGP RGD:10056767 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:26383259|PMID:27532257|PMID:28492532|PMID:29062697|PMID:29915097|PMID:31251381|PMID:31317183|PMID:36580316|RGD:8554872 IAGP RGD:404992317 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:26569459|PMID:28471438|PMID:28492532|PMID:30398466|PMID:31317183|PMID:31386562|PMID:32372669|PMID:35083019|RGD:8554872 IAGP RGD:8607752 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:30398466|PMID:36768812|RGD:8554872 IAGP RGD:596940849 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:30398466|RGD:8554872 IAGP RGD:10048319 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:30398466|RGD:8554872 IAGP RGD:38493822 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:30398466|RGD:8554872 IAGP RGD:402493929 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:32372669|RGD:8554872 IAGP RGD:14725112 H desmoplakin gene taxon:9606 20220607 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056706 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13805921 H desmoplakin gene taxon:9606 20220607 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14729196 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15014952 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156149299 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26906135 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|RGD:8554872 IAGP RGD:596940940 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532|RGD:8554872 IAGP RGD:14689682 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:24503780|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13501853 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:20716751|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29062697|RGD:8554872 IAGP RGD:34895151 H desmoplakin gene taxon:9606 20241210 ClinVar RGD 1314043 DSP HP:0001638 PMID:20857253|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221|PMID:33874732|RGD:8554872 IAGP RGD:8607817 H desmoplakin gene taxon:9606 20240507 ClinVar RGD 1314043 DSP HP:0001638 PMID:20864495|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25661095|PMID:25741868|PMID:26073755|PMID:26743238|PMID:28492532|PMID:30820396|PMID:30975432|PMID:31028937|PMID:33232181|RGD:8554872 IAGP RGD:8607774 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:20864495|PMID:25741868|PMID:35008956|RGD:8554872 IAGP RGD:34897601 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:21397041|PMID:23651034|PMID:25741868|PMID:27532257|PMID:28471438|PMID:28492532|PMID:35087879|RGD:8554872 IAGP RGD:13805711 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:21606390|PMID:25163546|PMID:25741868|PMID:28527814|RGD:8554872 IAGP RGD:405071848 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:21606390|PMID:25741868|RGD:8554872 IAGP RGD:243055865 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532|PMID:30821013|PMID:32746448|RGD:8554872 IAGP RGD:8607764 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:21606396|PMID:24440382|PMID:25741868|PMID:27153395|PMID:27532257|PMID:28492532|PMID:30975432|RGD:8554872 IAGP RGD:10041733 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:21636032|PMID:22216297|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27413182|PMID:28492532|RGD:8554872 IAGP RGD:8607725 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:21636032|PMID:23514727|PMID:23861362|PMID:24033266|PMID:24125834|PMID:25741868|PMID:26230511|PMID:27153395|PMID:28492532|RGD:8554872 IAGP RGD:8607805 H desmoplakin gene taxon:9606 20230510 ClinVar RGD 1314043 DSP HP:0001638 PMID:21636032|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|RGD:8554872 IAGP RGD:8607809 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:21636032|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31195250|RGD:8554872 IAGP RGD:13471243 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:21636032|PMID:25741868|PMID:28492532|PMID:29802319|RGD:8554872 IAGP RGD:11599792 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:21636032|PMID:25741868|PMID:28492532|PMID:30354334|PMID:35352813|RGD:8554872 IAGP RGD:12891646 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:21636032|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126760071 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:21636032|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9832335 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:21723241|PMID:24070718|PMID:25225338|PMID:25741868|PMID:26138720|PMID:28492532|PMID:31194698|RGD:8554872 IAGP RGD:402520461 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:21723241|PMID:24070718|PMID:25741868|PMID:26138720|PMID:28492532|RGD:8554872 IAGP RGD:13611345 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:21756917|PMID:23299917|PMID:23396983|PMID:23861362|PMID:25163546|PMID:25351510|PMID:25569433|PMID:25637381|PMID:25741868|PMID:26332594|PMID:27153395|PMID:28492532|RGD:8554872 IAGP RGD:8607713 H desmoplakin gene taxon:9606 20240806 ClinVar RGD 1314043 DSP HP:0001638 PMID:21859740|PMID:25741868|PMID:26899768|PMID:28492532|PMID:29511324|RGD:8554872 IAGP RGD:34898552 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:21859740|PMID:25741868|PMID:28492532|PMID:32164419|RGD:8554872 IAGP RGD:34898829 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:23137101|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156250938 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:23396983|PMID:25351510|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056747 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:23396983|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611290 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:23396983|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405072275 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:23514727|PMID:23524727|PMID:23861362|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10046679 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:23514727|PMID:25550050|PMID:25741868|PMID:28471438|PMID:28492532|PMID:29178656|PMID:31402444|RGD:8554872 IAGP RGD:13611370 H desmoplakin gene taxon:9606 20250506 ClinVar RGD 1314043 DSP HP:0001638 PMID:23861362|PMID:24033266|PMID:24125834|PMID:25741868|PMID:26846766|PMID:28492532|RGD:8554872 IAGP RGD:8690921 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29062697|RGD:8554872 IAGP RGD:8607762 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8602842 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607763 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607800 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:23861362|PMID:24070718|PMID:25741868|PMID:28492532|PMID:31402444|PMID:37418234|RGD:8554872 IAGP RGD:9832337 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:23861362|PMID:25741868|PMID:28492532|PMID:30775854|RGD:8554872 IAGP RGD:8690919 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:23861362|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10046300 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:23861362|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10046304 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:23861362|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10046307 H desmoplakin gene taxon:9606 20210511 ClinVar RGD 1314043 DSP HP:0001638 PMID:23861362|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10046677 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:23861362|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607732 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:24125834|PMID:25741868|PMID:26585738|PMID:28492532|PMID:29802319|PMID:30731207|PMID:31118017|RGD:8554872 IAGP RGD:10041738 H desmoplakin gene taxon:9606 20210406 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:24503780|PMID:25196244|PMID:25616645|PMID:25741868|PMID:25820315|PMID:26585738|PMID:27532257|PMID:27707468|PMID:28301460|PMID:28492532|PMID:29750433|PMID:29759408|RGD:8554872 IAGP RGD:8607819 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607779 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:3198322|RGD:8554872 IAGP RGD:9690774 H desmoplakin gene taxon:9606 20260602 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11551530 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25447171|PMID:25741868|PMID:28341588|PMID:28492532|RGD:8554872 IAGP RGD:8607818 H desmoplakin gene taxon:9606 20240507 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:26383259|PMID:26743238|PMID:28492532|PMID:31333075|PMID:31568572|RGD:8554872 IAGP RGD:10056726 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|RGD:8554872 IAGP RGD:11558118 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666|PMID:34137518|RGD:8554872 IAGP RGD:8607708 H desmoplakin gene taxon:9606 20221011 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221|RGD:8554872 IAGP RGD:10056752 H desmoplakin gene taxon:9606 20231107 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221|RGD:8554872 IAGP RGD:11039985 H desmoplakin gene taxon:9606 20230808 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|PMID:33500567|RGD:8554872 IAGP RGD:8607696 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|PMID:33684294|RGD:8554872 IAGP RGD:13814803 H desmoplakin gene taxon:9606 20250211 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056696 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11094569 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11095897 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12881182 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13540669 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8602835 H desmoplakin gene taxon:9606 20250408 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8602837 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607689 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607707 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607709 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607716 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607718 H desmoplakin gene taxon:9606 20230307 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607721 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607728 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607736 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607737 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607745 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607746 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607754 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607768 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607772 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607776 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607780 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607785 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607787 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607790 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607798 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607801 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607810 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607813 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8690918 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9687743 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9687744 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9687746 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9689238 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9689241 H desmoplakin gene taxon:9606 20241112 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9689246 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9690049 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9690532 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9691586 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9691588 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:24033266|PMID:25741868|PMID:37652022|RGD:8554872 IAGP RGD:13540680 H desmoplakin gene taxon:9606 20241210 ClinVar RGD 1314043 DSP HP:0001638 PMID:24125834|PMID:25741868|PMID:28492532|PMID:37418234|RGD:8554872 IAGP RGD:151890782 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:24125834|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056692 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:24125834|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34890895 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:24503780|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611373 H desmoplakin gene taxon:9606 20230509 ClinVar RGD 1314043 DSP HP:0001638 PMID:24598986|PMID:25741868|PMID:28074886|PMID:29062697|PMID:29555771|PMID:29961767|PMID:36580316|RGD:8554872 IAGP RGD:150556791 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:24967631|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31402444|PMID:37589201|RGD:8554872 IAGP RGD:10056788 H desmoplakin gene taxon:9606 20250107 ClinVar RGD 1314043 DSP HP:0001638 PMID:24981977|PMID:25741868|PMID:28492532|PMID:35008956|PMID:35653365|RGD:8554872 IAGP RGD:14689288 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:25227139|PMID:25741868|PMID:26399581|PMID:28492532|PMID:33874732|PMID:34317553|PMID:34352074|PMID:36768812|RGD:8554872 IAGP RGD:10056709 H desmoplakin gene taxon:9606 20250506 ClinVar RGD 1314043 DSP HP:0001638 PMID:25332820|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31983221|RGD:8554872 IAGP RGD:13481773 H desmoplakin gene taxon:9606 20230808 ClinVar RGD 1314043 DSP HP:0001638 PMID:25344691|PMID:25741868|PMID:26688388|PMID:28492532|PMID:28798025|RGD:8554872 IAGP RGD:13520995 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25351510|PMID:25741868|PMID:28492532|PMID:28790152|RGD:8554872 IAGP RGD:13520281 H desmoplakin gene taxon:9606 20230509 ClinVar RGD 1314043 DSP HP:0001638 PMID:25351510|PMID:25741868|PMID:28492532|PMID:29386531|RGD:8554872 IAGP RGD:13474590 H desmoplakin gene taxon:9606 20230509 ClinVar RGD 1314043 DSP HP:0001638 PMID:25351510|PMID:25741868|PMID:28492532|PMID:31568572|PMID:31983221|RGD:8554872 IAGP RGD:12886398 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25351510|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12841727 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25351510|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13815542 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:25351510|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14711044 H desmoplakin gene taxon:9606 20240507 ClinVar RGD 1314043 DSP HP:0001638 PMID:25351510|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155744602 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25351510|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156159955 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25351510|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893975 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25351510|PMID:25741868|RGD:8554872 IAGP RGD:34888605 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25351510|PMID:25741868|RGD:8554872 IAGP RGD:34897787 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25447171|PMID:25741868|PMID:27930701|PMID:28492532|PMID:37904629|RGD:8554872 IAGP RGD:13519484 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25447171|PMID:25741868|PMID:27930701|PMID:28492532|RGD:8554872 IAGP RGD:28868349 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25637381|PMID:25741868|PMID:26606670|PMID:28416588|PMID:28492532|PMID:29062697|PMID:29915098|PMID:31378211|PMID:31514951|RGD:8554872 IAGP RGD:9832341 H desmoplakin gene taxon:9606 20241210 ClinVar RGD 1314043 DSP HP:0001638 PMID:25693453|PMID:25741868|PMID:28492532|PMID:30847666|PMID:33500567|RGD:8554872 IAGP RGD:9832336 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25693453|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056703 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:25979592|PMID:28492532|PMID:31983221|PMID:37652022|RGD:8554872 IAGP RGD:38491671 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:26084686|PMID:26265630|PMID:28492532|PMID:30615648|PMID:30775854|RGD:8554872 IAGP RGD:12845629 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:26099957|PMID:28492532|RGD:8554872 IAGP RGD:13212047 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:26148547|PMID:28492532|RGD:8554872 IAGP RGD:26923189 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:26220970|PMID:26272908|PMID:27532257|PMID:28492532|PMID:33874732|PMID:35026164|RGD:8554872 IAGP RGD:11523110 H desmoplakin gene taxon:9606 20240507 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:26220970|PMID:28492532|RGD:8554872 IAGP RGD:11523452 H desmoplakin gene taxon:9606 20241210 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:26585738|PMID:27707468|PMID:28492532|RGD:8554872 IAGP RGD:151756904 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:26585738|PMID:28492532|PMID:29062697|PMID:36008935|PMID:36580316|RGD:8554872 IAGP RGD:34901560 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:26585738|PMID:28492532|PMID:30615648|RGD:8554872 IAGP RGD:11601916 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:26585738|PMID:28492532|RGD:8554872 IAGP RGD:12881139 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:26743238|PMID:28492532|RGD:8554872 IAGP RGD:8607761 H desmoplakin gene taxon:9606 20250107 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:27135274|PMID:28492532|RGD:8554872 IAGP RGD:11600932 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:27329731|PMID:28492532|RGD:8554872 IAGP RGD:15014954 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:27332903|PMID:28492532|PMID:30847666|RGD:8554872 IAGP RGD:13533672 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:27374306|PMID:28492532|PMID:28784889|PMID:28798025|RGD:8554872 IAGP RGD:10056760 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:27532257|PMID:28492532|PMID:30615648|PMID:32879264|RGD:8554872 IAGP RGD:13806458 H desmoplakin gene taxon:9606 20230808 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:27532257|PMID:28492532|PMID:31194698|PMID:33460606|RGD:8554872 IAGP RGD:10041726 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:27532257|PMID:28492532|PMID:31402444|PMID:34486814|RGD:8554872 IAGP RGD:34892662 H desmoplakin gene taxon:9606 20230509 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:27532257|PMID:28492532|PMID:31402444|RGD:8554872 IAGP RGD:34897265 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:27532257|PMID:28492532|PMID:32880476|RGD:8554872 IAGP RGD:34894128 H desmoplakin gene taxon:9606 20240507 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:27532257|PMID:28492532|PMID:37652022|RGD:8554872 IAGP RGD:14692675 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:27532257|PMID:28492532|PMID:38938828|RGD:8554872 IAGP RGD:13530894 H desmoplakin gene taxon:9606 20250211 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:27532257|PMID:28492532|RGD:8554872 IAGP RGD:14709419 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:27532257|RGD:8554872 IAGP RGD:713461717 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:27930701|PMID:28492532|RGD:8554872 IAGP RGD:38476621 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28087566|PMID:28492532|RGD:8554872 IAGP RGD:34901361 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28255936|PMID:28492532|RGD:8554872 IAGP RGD:11545219 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28341588|RGD:8554872 IAGP RGD:34901372 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28361054|PMID:28492532|RGD:8554872 IAGP RGD:13819923 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28416588|PMID:28492532|PMID:31514951|RGD:8554872 IAGP RGD:9832327 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:28527814|RGD:8554872 IAGP RGD:38491843 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:28600387|RGD:8554872 IAGP RGD:13490745 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:28767663|RGD:8554872 IAGP RGD:26886480 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:28790152|RGD:8554872 IAGP RGD:10449696 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:28798025|RGD:8554872 IAGP RGD:126762938 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:28912206|RGD:8554872 IAGP RGD:13805828 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:29016939|PMID:31737537|RGD:8554872 IAGP RGD:10056748 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:29032884|RGD:8554872 IAGP RGD:405751564 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:29062697|PMID:29247119|RGD:8554872 IAGP RGD:34891470 H desmoplakin gene taxon:9606 20241210 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:29062697|RGD:8554872 IAGP RGD:127325993 H desmoplakin gene taxon:9606 20241210 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:29095814|RGD:8554872 IAGP RGD:151873953 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:29192238|RGD:8554872 IAGP RGD:11600014 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:29253866|PMID:32826072|RGD:8554872 IAGP RGD:12911410 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:29255176|PMID:35470680|RGD:8554872 IAGP RGD:13211177 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:29334134|PMID:29420653|PMID:31983221|PMID:37652022|RGD:8554872 IAGP RGD:10056700 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:29447731|PMID:33500567|RGD:8554872 IAGP RGD:34894235 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:29511324|RGD:8554872 IAGP RGD:153000778 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:29607617|PMID:30276209|RGD:8554872 IAGP RGD:14688525 H desmoplakin gene taxon:9606 20220906 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:29884292|RGD:8554872 IAGP RGD:13484593 H desmoplakin gene taxon:9606 20231107 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:29956481|RGD:8554872 IAGP RGD:155729959 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30086531|RGD:8554872 IAGP RGD:15107844 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30086531|RGD:8554872 IAGP RGD:26914749 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30122538|RGD:8554872 IAGP RGD:26914974 H desmoplakin gene taxon:9606 20250107 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30206291|RGD:8554872 IAGP RGD:14692273 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30354300|RGD:8554872 IAGP RGD:34894390 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30403391|RGD:8554872 IAGP RGD:405156381 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30615648|RGD:8554872 IAGP RGD:14975393 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30699244|RGD:8554872 IAGP RGD:10056712 H desmoplakin gene taxon:9606 20231107 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30731207|RGD:8554872 IAGP RGD:12906469 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30775854|PMID:31770195|RGD:8554872 IAGP RGD:11600225 H desmoplakin gene taxon:9606 20230509 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30775854|PMID:35087879|RGD:8554872 IAGP RGD:126913506 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30775854|RGD:8554872 IAGP RGD:9832329 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30847666|RGD:8554872 IAGP RGD:10056720 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30847666|RGD:8554872 IAGP RGD:11523180 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30847666|RGD:8554872 IAGP RGD:127326259 H desmoplakin gene taxon:9606 20240507 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30847666|RGD:8554872 IAGP RGD:13611295 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30847666|RGD:8554872 IAGP RGD:13813010 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30847666|RGD:8554872 IAGP RGD:34898113 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30847666|RGD:8554872 IAGP RGD:401906121 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30847666|RGD:8554872 IAGP RGD:9832330 H desmoplakin gene taxon:9606 20230509 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:30975432|PMID:33652588|RGD:8554872 IAGP RGD:34900222 H desmoplakin gene taxon:9606 20231107 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31064352|RGD:8554872 IAGP RGD:26893630 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31114860|PMID:37589201|RGD:8554872 IAGP RGD:12883956 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31194698|PMID:38938828|RGD:8554872 IAGP RGD:12740991 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31514951|RGD:8554872 IAGP RGD:14727453 H desmoplakin gene taxon:9606 20230509 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31534214|RGD:8554872 IAGP RGD:13611298 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31737537|RGD:8554872 IAGP RGD:126767580 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31983221|PMID:33652588|RGD:8554872 IAGP RGD:34896975 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31983221|PMID:37652022|PMID:37937776|RGD:8554872 IAGP RGD:34889493 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31983221|PMID:37652022|RGD:8554872 IAGP RGD:13806855 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31983221|PMID:37652022|RGD:8554872 IAGP RGD:26890903 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31983221|PMID:37652022|RGD:8554872 IAGP RGD:26913408 H desmoplakin gene taxon:9606 20250506 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31983221|PMID:37652022|RGD:8554872 IAGP RGD:34894815 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31983221|RGD:8554872 IAGP RGD:10041735 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31983221|RGD:8554872 IAGP RGD:10056751 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31983221|RGD:8554872 IAGP RGD:11040046 H desmoplakin gene taxon:9606 20240507 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31983221|RGD:8554872 IAGP RGD:12885643 H desmoplakin gene taxon:9606 20220607 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31983221|RGD:8554872 IAGP RGD:14692553 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31983221|RGD:8554872 IAGP RGD:14709956 H desmoplakin gene taxon:9606 20230509 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31983221|RGD:8554872 IAGP RGD:14712461 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31983221|RGD:8554872 IAGP RGD:14718589 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:31983221|RGD:8554872 IAGP RGD:38494873 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:32233023|RGD:8554872 IAGP RGD:13612966 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:32268277|RGD:8554872 IAGP RGD:151717042 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:32659924|RGD:8554872 IAGP RGD:13529396 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:32746448|RGD:8554872 IAGP RGD:12899094 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:32826072|RGD:8554872 IAGP RGD:10056723 H desmoplakin gene taxon:9606 20240910 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:32880476|PMID:36788754|RGD:8554872 IAGP RGD:26901399 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:32880476|PMID:37198425|RGD:8554872 IAGP RGD:12901191 H desmoplakin gene taxon:9606 20260602 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:32880476|RGD:8554872 IAGP RGD:151235389 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:33029862|RGD:8554872 IAGP RGD:10056743 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:33029862|RGD:8554872 IAGP RGD:151735935 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:33049752|RGD:8554872 IAGP RGD:34899231 H desmoplakin gene taxon:9606 20250211 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:33082984|RGD:8554872 IAGP RGD:14712648 H desmoplakin gene taxon:9606 20221206 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:33500567|RGD:8554872 IAGP RGD:126770464 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:33500567|RGD:8554872 IAGP RGD:155944067 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:33552729|RGD:8554872 IAGP RGD:13477164 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:33652119|RGD:8554872 IAGP RGD:13529724 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:33874732|RGD:8554872 IAGP RGD:10056690 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:33874732|RGD:8554872 IAGP RGD:151871017 H desmoplakin gene taxon:9606 20250107 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:33874732|RGD:8554872 IAGP RGD:38488650 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:33954932|PMID:35947370|RGD:8554872 IAGP RGD:13821998 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:33954932|RGD:8554872 IAGP RGD:14692102 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:33954932|RGD:8554872 IAGP RGD:26886069 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:34352074|PMID:39288222|RGD:8554872 IAGP RGD:14396064 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:34815391|RGD:8554872 IAGP RGD:26912669 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:35819174|RGD:8554872 IAGP RGD:13465449 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:35947370|RGD:8554872 IAGP RGD:126757959 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:36008935|RGD:8554872 IAGP RGD:26921815 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:36178741|RGD:8554872 IAGP RGD:34898190 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:37477868|RGD:8554872 IAGP RGD:13611315 H desmoplakin gene taxon:9606 20240507 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:37510372|RGD:8554872 IAGP RGD:127323241 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:37589201|RGD:8554872 IAGP RGD:34890004 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:37702310|RGD:8554872 IAGP RGD:12900388 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:37904629|RGD:8554872 IAGP RGD:402507441 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:38254962|RGD:8554872 IAGP RGD:126748818 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:38489124|RGD:8554872 IAGP RGD:13611400 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:38540378|RGD:8554872 IAGP RGD:14701209 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:38691546|RGD:8554872 IAGP RGD:14393584 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:38691546|RGD:8554872 IAGP RGD:34896806 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:38757491|RGD:8554872 IAGP RGD:155934732 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|PMID:39205944|RGD:8554872 IAGP RGD:34898754 H desmoplakin gene taxon:9606 20250211 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10041724 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10041730 H desmoplakin gene taxon:9606 20260602 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10041734 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10041739 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10054933 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10054935 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056711 H desmoplakin gene taxon:9606 20210511 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056716 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056725 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056729 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056730 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056731 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056737 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056740 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056746 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056750 H desmoplakin gene taxon:9606 20260602 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056755 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056758 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056761 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056786 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056789 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10056791 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10449681 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10449929 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:10450177 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11039956 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11040343 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11040365 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523105 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523351 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523469 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523516 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523638 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523819 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523861 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523901 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11523978 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11524002 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11543973 H desmoplakin gene taxon:9606 20210511 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11544911 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11546801 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11547257 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11550146 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11550731 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11551608 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11552480 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11582781 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11583494 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11583635 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11584732 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11585107 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11585655 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11586511 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11587487 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11599495 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11601096 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11601293 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11601850 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11604304 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11652071 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126727226 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126727470 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126730787 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126735973 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126747589 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126750180 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126752514 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126752830 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126753395 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126753757 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126758957 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126759399 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126761483 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126764492 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126770555 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126770938 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126772017 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126772351 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126772630 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126773316 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126909962 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126913050 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126916044 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126919924 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126923593 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126924334 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127233210 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127236443 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127236445 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127243109 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127246501 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127249967 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127250601 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127266652 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127267127 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127269163 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127271700 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127275295 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127279690 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127286587 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127286612 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127286622 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127286639 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127286678 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127291516 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127294837 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127301323 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127302613 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127306905 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127307839 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127310689 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127310885 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127311838 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127317292 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127317633 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127317669 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127323244 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127323370 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127323508 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127323551 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127323766 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127323843 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127323847 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127323859 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127323896 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127324096 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127324158 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127324351 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127324495 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127324587 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127324735 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127324801 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127324830 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127325269 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127325464 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127325536 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127325642 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127326054 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127326168 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127326171 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127326278 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127326284 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127326326 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127326480 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127326552 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127337335 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833845 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12834582 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12835384 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12836088 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12836508 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12836535 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12836774 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12838029 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12843595 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12843611 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12844032 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12845798 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12846058 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12846800 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12847613 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12880551 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12881068 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12881699 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12882059 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12882092 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12883364 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12883602 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12885306 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12885546 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12886902 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12888533 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12889037 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12889523 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12891901 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12892428 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12898512 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12898924 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12899163 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12900224 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12900794 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12901480 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13211854 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13469810 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13471408 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13474060 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13474468 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13476568 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13478041 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13482320 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13482812 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13483375 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13483481 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13486178 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13486548 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13488704 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13490772 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13492407 H desmoplakin gene taxon:9606 20220118 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13493506 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13493785 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13494920 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13495324 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13496793 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13501167 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13502071 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13502131 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13503779 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13519711 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13521869 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13526560 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13527397 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13527683 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13527877 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13527942 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13527993 H desmoplakin gene taxon:9606 20210511 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13528044 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13528731 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13529655 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13529852 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13530097 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13532096 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13532334 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13532632 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13533639 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13533752 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13534635 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13535224 H desmoplakin gene taxon:9606 20230411 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13537042 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13539508 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13539665 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13539775 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13540387 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611288 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611324 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611329 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611338 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611362 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611378 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611382 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611388 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611394 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611405 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611408 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611416 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611431 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611474 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611477 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611479 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611484 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611487 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13611489 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13627083 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13805237 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13806432 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13806743 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13807664 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13808278 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13809130 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13809202 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13812182 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13812717 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13812749 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13812927 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13813836 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13813994 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13814879 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13815108 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13817856 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13818319 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13818720 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13818958 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13819542 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13821724 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14394126 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14688520 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14688522 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14688524 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14688530 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14688533 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14688957 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14688958 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14688962 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14688965 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14688967 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14688968 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14688971 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14688973 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14689678 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14689680 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14689683 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14691482 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14691494 H desmoplakin gene taxon:9606 20220607 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14691794 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14691856 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14691868 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14691904 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14691973 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692119 H desmoplakin gene taxon:9606 20210406 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692543 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692565 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692576 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692612 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692650 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692654 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692677 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692689 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692699 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692729 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692765 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692766 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692769 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692775 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692780 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692806 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692818 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14692862 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14694161 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14694663 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14710903 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14712248 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14713133 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14717455 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14717905 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14718238 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14720930 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14721738 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14723151 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14724609 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14729527 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14730154 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14731242 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14732562 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14732607 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14734885 H desmoplakin gene taxon:9606 20250211 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14736673 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14737368 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14739496 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14741088 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14742417 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14745130 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:150533791 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15097520 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15098151 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15104425 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15107472 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15109938 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15110622 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15118902 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15127484 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15133792 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151348204 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151348292 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151348312 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151348557 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151348813 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151349331 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151350231 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151350257 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151350402 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151350416 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151350507 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151350961 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151351040 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151351109 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15135899 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15139017 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15142407 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15143670 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15143965 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15147896 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15148351 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15153457 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15154032 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15156936 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15160097 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15160444 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15160538 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15160686 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15160977 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15161236 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151662373 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15168290 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15170557 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15171635 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151730300 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151731358 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151732084 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151733377 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151734959 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151743883 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151744547 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151753100 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151753524 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15175494 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151761469 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151766851 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151766866 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151791256 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151793787 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151795341 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151799742 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151803503 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151804933 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151809816 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151812917 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15181755 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151820760 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151824819 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151834374 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151837408 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151837648 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151839508 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151845744 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151845918 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151848075 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151848329 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151850775 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151853154 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15185586 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151857293 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151864920 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151867629 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151872907 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151879451 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151888965 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151892681 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15189508 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15189636 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15193013 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152028731 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152030595 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152036317 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152037279 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152038128 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152038765 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152043120 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152043447 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152048308 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152052434 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152056976 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152067537 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152073252 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152076256 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152082850 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152083145 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152099454 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152107957 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152122911 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152124680 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152145524 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152149718 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152153809 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152156584 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152157113 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:152172342 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155673705 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155678555 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155679617 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155683308 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155683553 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155685026 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155685551 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155696490 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155699773 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155704800 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155706531 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155708452 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155711856 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155718848 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155733790 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155736121 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155736211 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155741943 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155743089 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155913906 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155914439 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155938336 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155985777 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155988790 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156000968 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156012513 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156039307 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156050688 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156055922 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156060642 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156060939 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156066455 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156092732 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156111841 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156151772 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156157159 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156174001 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156176536 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156186433 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156195848 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156221681 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156224503 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156230055 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156240590 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156252630 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156255692 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156317158 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156349087 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156358416 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156365403 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156370725 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156373013 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156377469 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156378755 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156379265 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156379625 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156396508 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156404656 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156408366 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156419370 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156444417 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156446676 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156449070 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:21069196 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:21069200 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:21069202 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26885640 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26886703 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26886926 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26888324 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26888717 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26890469 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26892385 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26896683 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26899634 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26904746 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26904883 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26905620 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26906733 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26911667 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26912203 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26912320 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26913869 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26914021 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26915542 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26916035 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26916477 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26917124 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26917349 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26917424 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26920185 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26920890 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26922642 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26922848 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26923349 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26923673 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28868822 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28870074 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28871271 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28871675 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28873036 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28891563 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28891580 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28896898 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28908024 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28910141 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:329366344 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:329366357 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:329366364 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:329366373 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34888238 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34888256 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34888268 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34888370 H desmoplakin gene taxon:9606 20210406 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34888376 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34888498 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34888506 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34888637 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34888638 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34888648 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34888660 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34888762 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34888774 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34888994 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34889772 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34890003 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34890213 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34890243 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34890369 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34890566 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34890571 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34890920 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34890933 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34890953 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34891000 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34891025 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34891082 H desmoplakin gene taxon:9606 20210511 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34891181 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34891195 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34891292 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34891307 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34891697 H desmoplakin gene taxon:9606 20230307 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34891731 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34891786 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34891855 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34891932 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892057 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892092 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892162 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892306 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892397 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892449 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892479 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892496 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892538 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892590 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892626 H desmoplakin gene taxon:9606 20210511 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892628 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892639 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892654 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892676 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892858 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892877 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892882 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892913 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892917 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892962 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34892977 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893014 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893021 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893108 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893144 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893195 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893339 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893432 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893445 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893446 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893478 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893584 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893593 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893604 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893636 H desmoplakin gene taxon:9606 20210511 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893647 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893658 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893675 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893681 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893691 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893828 H desmoplakin gene taxon:9606 20210406 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893854 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893861 H desmoplakin gene taxon:9606 20230307 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893928 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893956 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893980 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894011 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894019 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894035 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894044 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894154 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894224 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894243 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894263 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894264 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894293 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894431 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894453 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894509 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894516 H desmoplakin gene taxon:9606 20210406 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894545 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894553 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894638 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894679 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894832 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894843 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894964 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894999 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34895010 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34895146 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34895156 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34895167 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34895351 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34895444 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34895618 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34895743 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34895978 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34896298 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34896300 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34896316 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34896469 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34896745 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34896769 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34896782 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34896793 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34896832 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34896840 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34896890 H desmoplakin gene taxon:9606 20210406 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34896986 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34896993 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897020 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897104 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897170 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897194 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897200 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897266 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897323 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897345 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897440 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897469 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897487 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897509 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897535 H desmoplakin gene taxon:9606 20210406 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897560 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897565 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897625 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897631 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897634 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897656 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897678 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897692 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897816 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897862 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897938 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897944 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897953 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897972 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898046 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898058 H desmoplakin gene taxon:9606 20210406 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898254 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898261 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898273 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898333 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898400 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898435 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898457 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898510 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898523 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898551 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898556 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898572 H desmoplakin gene taxon:9606 20210406 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898576 H desmoplakin gene taxon:9606 20230307 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898577 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898582 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898599 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898718 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898761 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898786 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898795 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898908 H desmoplakin gene taxon:9606 20210406 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898909 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898988 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899014 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899076 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899109 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899113 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899137 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899173 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899180 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899193 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899213 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899297 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899393 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899432 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899454 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899462 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899508 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899519 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899550 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899562 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899684 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899796 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899800 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899876 H desmoplakin gene taxon:9606 20210511 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899896 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899939 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899955 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899965 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899981 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34900201 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34900220 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34900327 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34900382 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34900752 H desmoplakin gene taxon:9606 20210406 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34900832 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34900859 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34900912 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34900969 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901025 H desmoplakin gene taxon:9606 20210406 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901092 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901146 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901182 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901245 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901281 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901310 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901322 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901359 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901443 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901451 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901463 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901478 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901555 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901570 H desmoplakin gene taxon:9606 20210511 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901603 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901635 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901637 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901710 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901711 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901769 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901816 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901842 H desmoplakin gene taxon:9606 20210406 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38464251 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38472170 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38474720 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38474955 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38477537 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38478390 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38478443 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38480829 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38482481 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38482896 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38484539 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38489809 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38492099 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38494368 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38598421 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401755893 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401755898 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401759508 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401784371 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401900005 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402489070 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402493892 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402493901 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402493916 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402493922 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402493937 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402493948 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402493957 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402493964 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402493972 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402493977 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402493985 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402493995 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402493999 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402500462 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402501821 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402515732 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402518020 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:402523746 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:404999634 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:404999705 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405001733 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405002453 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405006866 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405006971 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405011219 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405026815 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405034572 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405036320 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405042138 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405057225 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405071675 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405071707 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405071834 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405071912 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405071949 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405072035 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405072102 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405072206 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405072381 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405072449 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405072517 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405072691 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405072755 H desmoplakin gene taxon:9606 20250311 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405072815 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405074055 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405076094 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405077342 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405158549 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405171096 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405689093 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405689135 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405693687 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405714676 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405721631 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405733607 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405745062 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405748182 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405751163 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405753486 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:407489657 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:596940812 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:596940921 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:596940946 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597838842 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597860162 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597863365 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597870875 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597875848 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597888565 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597909960 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597914172 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597915615 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:597931089 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:616934577 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:616934737 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:616934855 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:713434638 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:713931175 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:713965463 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:713965682 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:713967131 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:713968078 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:713970036 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:713970811 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:713972776 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:713974293 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:713974490 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:713979068 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8602840 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607723 H desmoplakin gene taxon:9606 20230214 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8626264 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8632159 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9586829 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9586830 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9832333 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9832338 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:29062697|PMID:36580316|RGD:8554872 IAGP RGD:714199644 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:30122538|RGD:8554872 IAGP RGD:127324652 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:31397097|RGD:8554872 IAGP RGD:405071744 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:31484862|RGD:8554872 IAGP RGD:713471280 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:32372669|PMID:39288222|RGD:8554872 IAGP RGD:730468351 H desmoplakin gene taxon:9606 20260616 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:32372669|RGD:8554872 IAGP RGD:736709358 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:32410525|RGD:8554872 IAGP RGD:405072186 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:33652119|RGD:8554872 IAGP RGD:405072889 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:33954932|RGD:8554872 IAGP RGD:156440153 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:33954932|RGD:8554872 IAGP RGD:597732019 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:35200695|RGD:8554872 IAGP RGD:596942354 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:37904629|RGD:8554872 IAGP RGD:713461400 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|PMID:39288222|RGD:8554872 IAGP RGD:713395099 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:10041727 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323167 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323182 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323197 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323208 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323218 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323246 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323301 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323340 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323393 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323423 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323431 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323510 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323511 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323516 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323556 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323573 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323629 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323693 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323706 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323728 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127323904 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127324021 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127324053 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127324387 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127324672 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127324685 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127324800 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127324952 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127325072 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127325370 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127325496 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127325504 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127325584 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127325828 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127325853 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127325881 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127325984 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127326059 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127326062 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127326079 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127326185 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127326194 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127326295 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127326355 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127326511 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127326672 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127326681 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127326733 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127326848 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:127326996 H desmoplakin gene taxon:9606 20210706 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:13529076 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:13610856 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:14688513 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:14688516 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:14688518 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:14688529 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:14688956 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:14688970 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:14691459 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:14692361 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:14692545 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:14692581 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:14692696 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:14692718 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:14692737 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:14692767 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:14693772 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:150528214 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151232723 H desmoplakin gene taxon:9606 20220118 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151232727 H desmoplakin gene taxon:9606 20220118 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151232729 H desmoplakin gene taxon:9606 20220118 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151232732 H desmoplakin gene taxon:9606 20220118 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151232736 H desmoplakin gene taxon:9606 20220118 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151232738 H desmoplakin gene taxon:9606 20220118 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151232741 H desmoplakin gene taxon:9606 20220118 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151348207 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151348228 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151348296 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151348362 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151348432 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151348452 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151348519 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151348540 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151348548 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151348758 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151349000 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151349020 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151349136 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151349249 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151350029 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151350394 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151350503 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151350581 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151350597 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151350656 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151350717 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151350759 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151350818 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151350969 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151351113 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:151351132 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:155644056 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:155666621 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:155673804 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:155685538 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:155695723 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:155700104 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:155709623 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:155717268 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:155718795 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:155720370 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:155722030 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:155725197 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:155747384 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:155922442 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:155982569 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:21069206 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:243050104 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:243055864 H desmoplakin gene taxon:9606 20230411 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:28895908 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:28896883 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:28905212 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:329366348 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:329386673 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:329399289 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:329847129 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:329848700 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34888251 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34888292 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34888299 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34888363 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34888554 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34888642 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34888738 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34888765 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34888771 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34889025 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34889056 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34889058 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34889090 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34889229 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34889405 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34889886 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34890240 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34890383 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34890400 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34890638 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34890640 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34890667 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34891012 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34891065 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34891194 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34891241 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34891545 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34891603 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34891680 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34891817 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892020 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892078 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892139 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892145 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892220 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892403 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892407 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892410 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892448 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892475 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892611 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892646 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892762 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892796 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892800 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892808 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892888 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892899 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892945 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34892969 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34893066 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34893173 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34893187 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34893210 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34893220 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34893351 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34893510 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34893514 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34893539 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34893648 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34893670 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34893812 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894022 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894174 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894239 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894256 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894290 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894295 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894321 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894327 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894329 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894343 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894362 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894403 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894405 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894421 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894445 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894487 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894557 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894560 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894564 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894692 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894699 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894731 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894737 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894792 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894953 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894961 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34894971 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34895031 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34895101 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34895135 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34895148 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34895158 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34895303 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34895321 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34895405 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34895479 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896019 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896043 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896150 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896328 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896392 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896473 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896500 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896565 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896615 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896705 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896751 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896800 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896809 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896816 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896843 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896876 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896896 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896915 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896962 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34896989 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897014 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897071 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897193 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897495 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897515 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897571 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897579 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897607 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897651 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897666 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897672 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897795 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897799 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897823 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897895 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34897957 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34898067 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34898073 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34898089 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34898092 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34898110 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34898346 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34898520 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34898616 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34898623 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34898645 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34898802 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34898976 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899003 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899067 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899068 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899081 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899104 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899170 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899223 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899326 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899350 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899449 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899520 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899522 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899556 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899685 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899728 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899769 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899977 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34899982 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900075 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900122 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900139 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900148 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900155 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900180 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900197 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900340 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900532 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900576 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900598 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900633 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900694 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900760 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900816 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900817 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900886 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900921 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34900967 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901002 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901053 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901175 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901183 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901254 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901271 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901289 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901404 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901454 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901482 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901489 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901514 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901559 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901594 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901654 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901677 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901691 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901693 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901808 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:34901840 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:401719090 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:401719097 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:401755902 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:401899645 H desmoplakin gene taxon:9606 20240403 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:404978717 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:404978720 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:404978722 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:404978725 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:404978728 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:404978730 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071612 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071628 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071645 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071662 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071691 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071720 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071733 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071752 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071766 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071776 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071789 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071804 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071814 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071825 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071859 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071869 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071891 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071900 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071931 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071939 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071960 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071972 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405071993 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072006 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072015 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072024 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072054 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072063 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072076 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072090 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072113 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072125 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072138 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072149 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072163 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072176 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072198 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072232 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072242 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072253 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072267 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072285 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072299 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072308 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072317 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072335 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072348 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072395 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072403 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072413 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072429 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072439 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072459 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072470 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072476 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072487 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072503 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072528 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072549 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072560 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072572 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072584 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072595 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072606 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072618 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072631 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072640 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072649 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072675 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072707 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072717 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072725 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072737 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072744 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072770 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072781 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072824 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072836 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072848 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072860 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072870 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072881 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072908 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072918 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072927 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072944 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405072955 H desmoplakin gene taxon:9606 20240319 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405684044 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405689113 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405689131 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405689142 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405696639 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405696915 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405704761 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405714039 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405721004 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405724127 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405726121 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405728651 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405732297 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405735457 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405736297 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405737532 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405740951 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405747594 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:405757183 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:407426757 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:407489674 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:407489931 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:408381967 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:596940734 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:596940771 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:596940792 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:596940891 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:596940900 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:596940942 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:597732163 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:598189150 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:598189216 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934562 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934578 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934613 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934614 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934615 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934616 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934656 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934657 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934658 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934665 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934675 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934734 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934735 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934736 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934743 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934748 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934778 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934779 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934780 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934781 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934790 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934797 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934829 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934852 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934853 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934854 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934856 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934893 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934898 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934901 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616934905 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616935501 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616935697 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616935775 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616935795 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616935826 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616935838 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:616935916 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713386128 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713402521 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713451925 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713451942 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713451963 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713451982 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713451995 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713452046 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713452087 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713452108 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713452143 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713452909 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713452932 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713453027 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713453473 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713453495 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713453509 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713453525 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713453542 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713453560 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713453665 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713453683 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713453697 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713453711 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713453727 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713453743 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713455301 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713455325 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713455413 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713455426 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713456190 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713456406 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713456538 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713456692 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713456835 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457247 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457263 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457281 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457305 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457323 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457345 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457359 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457371 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457391 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457414 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457427 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457447 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457469 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457508 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457530 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457550 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457564 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457582 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457600 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457619 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457636 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457844 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457862 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457887 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457904 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457919 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457937 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457952 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457966 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713457984 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713458001 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713458027 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713460548 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713460801 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713460874 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461193 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461213 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461232 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461254 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461270 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461300 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461321 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461340 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461359 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461378 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461417 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461524 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461537 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461554 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461592 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461608 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461629 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461650 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461669 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713461696 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713463614 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713463639 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713463654 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713463685 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713463719 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713464451 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713464549 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713464867 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713464883 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713464905 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713464991 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713465011 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713465054 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713465071 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713467264 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713467479 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713467601 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713467860 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713467975 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713467993 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713468014 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713468027 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713468763 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713469243 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713469263 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713469282 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713469304 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713469458 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713469475 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713469496 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713469512 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713469537 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713470260 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713470766 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713471013 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713471109 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713471824 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713471972 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713472269 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713472752 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713472779 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713472803 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713472824 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713473842 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713473860 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713473878 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713473897 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713474873 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713475124 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:713554949 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 PMID:25741868|RGD:8554872 IAGP RGD:9832342 H desmoplakin gene taxon:9606 20220208 ClinVar RGD 1314043 DSP HP:0001638 PMID:27532257|PMID:28492532|PMID:28527814|RGD:8554872 IAGP RGD:156301165 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 RGD:8554872 IAGP RGD:155264642 H desmoplakin gene taxon:9606 20221011 ClinVar RGD 1314043 DSP HP:0001638 RGD:8554872 IAGP RGD:401857202 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 RGD:8554872 IAGP RGD:401948480 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 RGD:8554872 IAGP RGD:714062912 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 RGD:8554872 IAGP RGD:714110931 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001638 RGD:8554872 IAGP RGD:8602839 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001638 RGD:8554872 IAGP RGD:9691582 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001639 PMID:23861362|PMID:24033266|PMID:24125834|PMID:25741868|PMID:26846766|PMID:28492532|RGD:8554872 IAGP RGD:8690921 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001639 PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8607800 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001639 PMID:25741868|PMID:27930701|PMID:28492532|RGD:8554872 IAGP RGD:12899027 H desmoplakin gene taxon:9606 20250506 ClinVar RGD 1314043 DSP HP:0001639 PMID:25741868|PMID:28492532|PMID:29062697|RGD:8554872 IAGP RGD:34900673 H desmoplakin gene taxon:9606 20250506 ClinVar RGD 1314043 DSP HP:0001639 PMID:25741868|PMID:28492532|PMID:29255176|PMID:35470680|RGD:8554872 IAGP RGD:13211177 H desmoplakin gene taxon:9606 20250701 ClinVar RGD 1314043 DSP HP:0001639 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:21072136 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0001639 PMID:25741868|PMID:32372669|RGD:8554872 IAGP RGD:736709788 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001639 PMID:25741868|RGD:8554872 IAGP RGD:13211114 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001639 RGD:8554872 IAGP RGD:13211219 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001639 RGD:8554872 IAGP RGD:9832347 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001640 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0001644 MIM:605676|MIM:615821|ORPHA:154|ORPHA:65282|PMID:16628197|PMID:9738775|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0001644 PMID:25741868|PMID:28492532|PMID:30012837|RGD:8554872 IAGP RGD:14692636 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001644 PMID:25741868|RGD:8554872 IAGP RGD:15014953 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001644 RGD:8554872 IAGP RGD:11522772 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001644 RGD:8554872 IAGP RGD:329952781 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001644 RGD:8554872 IAGP RGD:329952782 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001644 RGD:8554872 IAGP RGD:9691582 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0001645 MIM:607450|PMID:12373648|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0001645 PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532|RGD:8554872 IAGP RGD:26890188 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001645 PMID:20864495|PMID:25741868|PMID:35008956|RGD:8554872 IAGP RGD:34897601 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001645 PMID:25741868|RGD:8554872 IAGP RGD:155644056 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001645 PMID:25741868|RGD:8554872 IAGP RGD:713490366 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001645 PMID:25741868|RGD:8554872 IAGP RGD:714057766 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001647 PMID:25741868|RGD:8554872 IAGP RGD:12741770 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0001657 PMID:18632414|PMID:19924139|PMID:20738328|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24125834|PMID:25225338|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|RGD:8554872 IAGP RGD:9687747 H desmoplakin gene taxon:9606 20230808 ClinVar RGD 1314043 DSP HP:0001657 PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532|PMID:30821013|PMID:32746448|RGD:8554872 IAGP RGD:8607764 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001657 PMID:23861362|PMID:24033266|PMID:24125834|PMID:25741868|PMID:26846766|PMID:28492532|RGD:8554872 IAGP RGD:8690921 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11344988 H desmoplakin gene taxon:9606 20230808 ClinVar RGD 1314043 DSP HP:0001657 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26916550 H desmoplakin gene taxon:9606 20230808 ClinVar RGD 1314043 DSP HP:0001663 MIM:607450|PMID:12373648|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0001685 PMID:25741868|RGD:8554872 IAGP RGD:714057766 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001695 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11040053 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001695 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9832328 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0001699 PMID:25741868|RGD:8554872 IAGP RGD:714057766 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001700 PMID:25741868|RGD:8554872 IAGP RGD:714057766 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001723 PMID:25351510|PMID:25741868|PMID:28492532|PMID:28790152|RGD:8554872 IAGP RGD:13520281 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001727 ORPHA:154|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20240118 HPO RGD 1314043 DSP HP:0001787 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001787 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001798 MIM:609638|PMID:16175511|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0001802 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0001808 MIM:615821|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0001808 PMID:25741868|PMID:26148547|PMID:28492532|RGD:8554872 IAGP RGD:26923189 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001817 MIM:609638|ORPHA:158687|PMID:20613772|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0001820 MIM:615821|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0001836 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0001852 MIM:609638|PMID:16175511|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0001872 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001877 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0001962 RGD:8554872 IAGP RGD:714062912 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002020 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0002076 PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532|PMID:30821013|PMID:32746448|RGD:8554872 IAGP RGD:8607764 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002087 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002099 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002099 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002110 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0002164 PMID:11841538|PMID:20738328|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8601986 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002206 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0002206 RGD:8554872 IAGP RGD:14720718 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002223 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0002224 MIM:605676|MIM:607450|MIM:615821|ORPHA:65282|PMID:11841538|PMID:12373648|PMID:16628197|PMID:9738775|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0002242 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002250 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002289 MIM:609638|PMID:16175511|PMID:20302578|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0002298 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0002301 PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532|PMID:30821013|PMID:32746448|RGD:8554872 IAGP RGD:8607764 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002321 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002321 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002354 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002354 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002577 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002577 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002686 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002686 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002719 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002793 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002813 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002861 PMID:16199547|PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532|PMID:33460606|RGD:8554872 IAGP RGD:597896446 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002875 ORPHA:154|ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250416 HPO RGD 1314043 DSP HP:0002878 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0002960 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0002960 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0003110 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0003198 ORPHA:154|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0003457 ORPHA:154|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0003546 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20240118 HPO RGD 1314043 DSP HP:0003577 MIM:605676|PMID:11841538|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0003621 MIM:612908|PMID:9887343|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0003811 MIM:609638|PMID:16175511|PMID:20302578|PMID:20613772|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0004057 MIM:609638|PMID:16175511|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0004209 MIM:609638|ORPHA:158687|PMID:20302578|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0004528 PMID:25741868|PMID:26148547|PMID:28492532|RGD:8554872 IAGP RGD:26923189 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0004756 MIM:605676|MIM:607450|MIM:615821|PMID:12373648|PMID:16628197|PMID:9738775|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0004756 PMID:23396983|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29062697|PMID:31638414|RGD:8554872 IAGP RGD:11093777 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0004756 PMID:23861362|PMID:24033266|PMID:24125834|PMID:25741868|PMID:26846766|PMID:28492532|RGD:8554872 IAGP RGD:8690921 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0004756 PMID:23861362|PMID:24070718|PMID:25741868|PMID:28492532|PMID:31402444|PMID:37418234|RGD:8554872 IAGP RGD:9832337 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0004756 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12741270 H desmoplakin gene taxon:9606 20210323 ClinVar RGD 1314043 DSP HP:0005162 PMID:20400443|PMID:20716751|PMID:21606390|PMID:21859740|PMID:22555271|PMID:23137101|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:30398466|PMID:31402444|PMID:33821670|PMID:35653365|PMID:35766183|RGD:8554872 IAGP RGD:8607695 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0005588 ORPHA:65282|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0005597 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0005599 PMID:11841538|PMID:20738328|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8601986 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0005978 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0006097 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0006480 PMID:25741868|PMID:26148547|PMID:28492532|RGD:8554872 IAGP RGD:26923189 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0006510 RGD:8554872 IAGP RGD:14720718 H desmoplakin gene taxon:9606 20220118 ClinVar RGD 1314043 DSP HP:0006528 PMID:25741868|RGD:8554872 IAGP RGD:155643428 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0006530 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0006670 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0006682 MIM:607450|PMID:12373648|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0006721 PMID:11841538|PMID:20738328|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8601986 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0006725 RGD:8554872 IAGP RGD:155727960 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0006725 RGD:8554872 IAGP RGD:713476299 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0006770 RGD:8554872 IAGP RGD:713476001 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0006770 RGD:8554872 IAGP RGD:713476199 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0006770 RGD:8554872 IAGP RGD:713476216 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0006770 RGD:8554872 IAGP RGD:713476257 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0006770 RGD:8554872 IAGP RGD:713476503 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0007418 MIM:609638|PMID:20613772|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0007545 PMID:11841538|PMID:20738328|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8601986 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0007556 PMID:25741868|PMID:26148547|PMID:28492532|RGD:8554872 IAGP RGD:26923189 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0008064 MIM:615821|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0008064 PMID:25741868|PMID:26148547|PMID:28492532|RGD:8554872 IAGP RGD:26923189 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0008066 MIM:605676|MIM:609638|PMID:11841538|PMID:20613772|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0008066 PMID:11841538|PMID:20738328|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8601986 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0008070 PMID:11841538|PMID:20738328|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8601986 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0008094 MIM:609638|PMID:16175511|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0008404 MIM:605676|MIM:615821|PMID:11841538|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0009127 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0009804 MIM:605676|MIM:615821|PMID:16628197|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0009884 MIM:609638|PMID:16175511|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0010444 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0010674 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0010705 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0010719 PMID:11841538|PMID:20738328|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8601986 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0010780 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0010783 MIM:615821|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0011039 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0011421 MIM:605676|PMID:9738775|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0011443 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0011443 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0011463 MIM:615821|PMID:16628197|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0011663 MIM:607450|PMID:12373648|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0011663 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13612239 H desmoplakin gene taxon:9606 20210608 ClinVar RGD 1314043 DSP HP:0011663 PMID:25741868|PMID:28492532|PMID:30847666|RGD:8554872 IAGP RGD:10056720 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0011664 PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221|RGD:8554872 IAGP RGD:10056752 H desmoplakin gene taxon:9606 20231107 ClinVar RGD 1314043 DSP HP:0011664 PMID:25693453|PMID:25741868|PMID:28492532|PMID:30847666|PMID:33500567|RGD:8554872 IAGP RGD:9832336 H desmoplakin gene taxon:9606 20240312 ClinVar RGD 1314043 DSP HP:0011675 ORPHA:154|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20240118 HPO RGD 1314043 DSP HP:0011675 PMID:16917092|PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25525159|PMID:25741868|PMID:27532257|PMID:28471438|PMID:28492532|PMID:30398466|RGD:8554872 IAGP RGD:8607784 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0011675 PMID:20400443|PMID:20716751|PMID:21606390|PMID:21859740|PMID:22555271|PMID:23137101|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:30398466|PMID:31402444|PMID:33821670|PMID:35653365|PMID:35766183|RGD:8554872 IAGP RGD:8607695 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0011675 PMID:24033266|PMID:28492532|PMID:38938828|RGD:8554872 IAGP RGD:10056776 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0011675 PMID:25741868|RGD:8554872 IAGP RGD:155644056 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0011675 PMID:25741868|RGD:8554872 IAGP RGD:40889196 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0011675 PMID:28492532|RGD:8554872 IAGP RGD:25319743 H desmoplakin gene taxon:9606 20220420 ClinVar RGD 1314043 DSP HP:0011675 RGD:8554872 IAGP RGD:714062912 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0011675 RGD:8554872 IAGP RGD:714110931 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0011804 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0011889 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0011968 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0012126 PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532|RGD:8554872 IAGP RGD:151769739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0012126 RGD:8554872 IAGP RGD:14745688 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0012378 ORPHA:154|ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250416 HPO RGD 1314043 DSP HP:0012647 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12833353 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0012735 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0012764 ORPHA:154|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20240118 HPO RGD 1314043 DSP HP:0012817 PMID:25741868|RGD:8554872 IAGP RGD:713502082 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0012819 PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532|RGD:8554872 IAGP RGD:26890188 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0012819 PMID:25741868|PMID:34213952|RGD:8554872 IAGP RGD:152061644 H desmoplakin gene taxon:9606 20220510 ClinVar RGD 1314043 DSP HP:0012819 PMID:25741868|RGD:8554872 IAGP RGD:714057766 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0025092 MIM:612908|PMID:9887343|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0025169 ORPHA:154|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20240118 HPO RGD 1314043 DSP HP:0025169 PMID:24033266|PMID:25741868|RGD:8554872 IAGP RGD:11088061 H desmoplakin gene taxon:9606 20260707 ClinVar RGD 1314043 DSP HP:0025175 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0025179 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0025390 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0025493 MIM:605676|PMID:11841538|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0025524 MIM:605676|PMID:11841538|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0025708 MIM:607450|PMID:12373648|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0030153 RGD:8554872 IAGP RGD:713476021 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0030153 RGD:8554872 IAGP RGD:713476128 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0030359 RGD:8554872 IAGP RGD:713476312 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0030682 PMID:25741868|PMID:28492532|PMID:31983221|RGD:8554872 IAGP RGD:14718589 H desmoplakin gene taxon:9606 20240507 ClinVar RGD 1314043 DSP HP:0030816 MIM:615821|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0030830 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0031274 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0031319 MIM:605676|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0031538 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0031631 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20240118 HPO RGD 1314043 DSP HP:0031950 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20240118 HPO RGD 1314043 DSP HP:0032341 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20240118 HPO RGD 1314043 DSP HP:0032449 ORPHA:158687|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0033367 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20240118 HPO RGD 1314043 DSP HP:0045051 ORPHA:2032|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20240118 HPO RGD 1314043 DSP HP:0045075 MIM:605676|PMID:11841538|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0100021 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0100242 RGD:8554872 IAGP RGD:14745688 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0100526 RGD:8554872 IAGP RGD:150459002 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0100543 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0100578 ORPHA:154|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20230821 HPO RGD 1314043 DSP HP:0100613 MIM:605676|PMID:9738775|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0100749 PMID:20400443|PMID:20716751|PMID:21606390|PMID:21859740|PMID:22555271|PMID:23137101|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:30398466|PMID:31402444|PMID:33821670|PMID:35653365|PMID:35766183|RGD:8554872 IAGP RGD:8607695 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0100759 MIM:605676|ORPHA:2032|PMID:9738775|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0100792 MIM:605676|MIM:609638|ORPHA:158687|PMID:11841538|PMID:16175511|PMID:20302578|PMID:20613772|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0200041 MIM:609638|PMID:16175511|PMID:20302578|RGD:8699517 IAGP H desmoplakin gene taxon:9606 20250912 HPO RGD 1314043 DSP HP:0410009 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156267739 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314043 DSP HP:0410173 PMID:20400443|PMID:20716751|PMID:21606390|PMID:21859740|PMID:22555271|PMID:23137101|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:30398466|PMID:31402444|PMID:33821670|PMID:35653365|PMID:35766183|RGD:8554872 IAGP RGD:8607695 H desmoplakin gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0000006 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20251023 HPO RGD 1314047 ATR HP:0000007 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20260209 HPO RGD 1314047 ATR HP:0000028 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000047 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000175 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20260209 HPO RGD 1314047 ATR HP:0000218 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000237 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000252 MIM:210600|ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20260209 HPO RGD 1314047 ATR HP:0000252 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38596999 H ATR checkpoint kinase gene taxon:9606 20220420 ClinVar RGD 1314047 ATR HP:0000252 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38597080 H ATR checkpoint kinase gene taxon:9606 20210511 ClinVar RGD 1314047 ATR HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:38596980 H ATR checkpoint kinase gene taxon:9606 20210323 ClinVar RGD 1314047 ATR HP:0000252 RGD:1599404|PMID:12640452 IAGP H ATR checkpoint kinase gene taxon:9606 20070201 RGD RGD 1314047 ATR HP:0000252 RGD:8554872 IAGP RGD:13785411 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0000252 RGD:8554872 IAGP RGD:13786121 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0000275 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000324 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000340 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000347 MIM:210600|ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250416 HPO RGD 1314047 ATR HP:0000347 RGD:8554872 IAGP RGD:13785411 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0000347 RGD:8554872 IAGP RGD:13786121 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0000363 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000369 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000377 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000387 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000444 MIM:210600|MIM:614564|ORPHA:808|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0000448 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000486 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000494 MIM:210600|ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250416 HPO RGD 1314047 ATR HP:0000501 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000545 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13215986 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0000581 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000670 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20251023 HPO RGD 1314047 ATR HP:0000678 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20260209 HPO RGD 1314047 ATR HP:0000682 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000689 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:407426997 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0000717 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127261678 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0000750 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127261678 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0000752 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000878 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0000954 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20260209 HPO RGD 1314047 ATR HP:0001009 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0001090 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0001249 MIM:210600|ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20260209 HPO RGD 1314047 ATR HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127261678 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0001250 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0001252 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127261678 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0001302 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0001320 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0001363 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0001382 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20260209 HPO RGD 1314047 ATR HP:0001382 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127261678 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0001385 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0001402 RGD:8554872 IAGP RGD:714264729 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0001511 MIM:210600|ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20260209 HPO RGD 1314047 ATR HP:0001592 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0001596 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0001763 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20260209 HPO RGD 1314047 ATR HP:0001806 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0001807 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0001852 MIM:210600|ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250416 HPO RGD 1314047 ATR HP:0001876 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0001883 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0002209 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0002650 MIM:210600|ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20251023 HPO RGD 1314047 ATR HP:0002664 PMID:25741868|RGD:8554872 IAGP RGD:405797053 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0002664 PMID:35101336|RGD:8554872 IAGP RGD:713632706 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0002664 PMID:35101336|RGD:8554872 IAGP RGD:713639531 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0002664 PMID:35101336|RGD:8554872 IAGP RGD:713639545 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0002750 MIM:210600|ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250416 HPO RGD 1314047 ATR HP:0002827 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20260209 HPO RGD 1314047 ATR HP:0002861 RGD:8554872 IAGP RGD:713816691 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0002861 RGD:8554872 IAGP RGD:713816882 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0002861 RGD:8554872 IAGP RGD:713816989 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0002987 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0003002 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0003002 PMID:26845104|RGD:8554872 IAGP RGD:11051421 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0003002 PMID:28492532|RGD:8554872 IAGP RGD:15146630 H ATR checkpoint kinase gene taxon:9606 20241112 ClinVar RGD 1314047 ATR HP:0003083 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0003508 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0003510 RGD:8554872 IAGP RGD:13785411 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0003510 RGD:8554872 IAGP RGD:13786121 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0003577 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0003593 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0004209 MIM:210600|ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250416 HPO RGD 1314047 ATR HP:0004322 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:243063887 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0004326 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0004808 RGD:8554872 IAGP RGD:150468029 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0004808 RGD:8554872 IAGP RGD:713958291 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0005338 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0006143 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0006297 MIM:210600|MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0006434 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0006442 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0006625 PMID:25741868|PMID:26845104|PMID:28492532|RGD:8554872 IAGP RGD:11050227 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0006770 RGD:8554872 IAGP RGD:713816702 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0006770 RGD:8554872 IAGP RGD:713816716 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0006770 RGD:8554872 IAGP RGD:713816793 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0007048 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0007380 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0007495 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0008069 PMID:21228398|PMID:23144622|PMID:25741868|PMID:26845104|PMID:27084275|PMID:28492532|RGD:8554872 IAGP RGD:11050217 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0008404 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0008665 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0008897 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20260209 HPO RGD 1314047 ATR HP:0009804 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0010230 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0010579 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0010583 MIM:210600|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0011065 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0011342 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314047 ATR HP:0011367 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0011463 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0011797 RGD:8554872 IAGP RGD:713955751 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0011797 RGD:8554872 IAGP RGD:713956241 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0011797 RGD:8554872 IAGP RGD:713958288 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0012126 RGD:8554872 IAGP RGD:14716021 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0012126 RGD:8554872 IAGP RGD:713597012 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0012182 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0012203 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0025127 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0030084 RGD:8554872 IAGP RGD:13785411 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0030084 RGD:8554872 IAGP RGD:13786121 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0030153 RGD:8554872 IAGP RGD:14716021 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0030359 RGD:8554872 IAGP RGD:713816565 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0033832 MIM:614564|PMID:22341969|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20250912 HPO RGD 1314047 ATR HP:0100242 PMID:28492532|RGD:8554872 IAGP RGD:28869243 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0100242 RGD:8554872 IAGP RGD:150405900 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0100242 RGD:8554872 IAGP RGD:713816741 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0100522 RGD:8554872 IAGP RGD:150405900 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0100522 RGD:8554872 IAGP RGD:713816667 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0100526 RGD:8554872 IAGP RGD:14716021 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0100526 RGD:8554872 IAGP RGD:714115209 H ATR checkpoint kinase gene taxon:9606 20260519 ClinVar RGD 1314047 ATR HP:0100543 ORPHA:808|RGD:8699517 IAGP H ATR checkpoint kinase gene taxon:9606 20230821 HPO RGD 1314048 TTC39B HP:0002861 RGD:8554872 IAGP RGD:713576358 H tetratricopeptide repeat domain 39B gene taxon:9606 20260519 ClinVar RGD 1314048 TTC39B HP:0004808 RGD:8554872 IAGP RGD:713513816 H tetratricopeptide repeat domain 39B gene taxon:9606 20260519 ClinVar RGD 1314048 TTC39B HP:0004808 RGD:8554872 IAGP RGD:714257458 H tetratricopeptide repeat domain 39B gene taxon:9606 20260519 ClinVar RGD 1314048 TTC39B HP:0006770 RGD:8554872 IAGP RGD:713576150 H tetratricopeptide repeat domain 39B gene taxon:9606 20260519 ClinVar RGD 1314048 TTC39B HP:0011797 RGD:8554872 IAGP RGD:714257468 H tetratricopeptide repeat domain 39B gene taxon:9606 20260519 ClinVar RGD 1314048 TTC39B HP:0030153 RGD:8554872 IAGP RGD:713576090 H tetratricopeptide repeat domain 39B gene taxon:9606 20260519 ClinVar RGD 1314048 TTC39B HP:0100242 RGD:8554872 IAGP RGD:713576336 H tetratricopeptide repeat domain 39B gene taxon:9606 20260519 ClinVar RGD 1314050 MBOAT2 HP:0001402 RGD:8554872 IAGP RGD:713747479 H membrane bound glycerophospholipid O-acyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1314050 MBOAT2 HP:0002861 RGD:8554872 IAGP RGD:713681827 H membrane bound glycerophospholipid O-acyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1314050 MBOAT2 HP:0004808 RGD:8554872 IAGP RGD:714042604 H membrane bound glycerophospholipid O-acyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1314050 MBOAT2 HP:0004808 RGD:8554872 IAGP RGD:714047956 H membrane bound glycerophospholipid O-acyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1314050 MBOAT2 HP:0012126 RGD:8554872 IAGP RGD:713447345 H membrane bound glycerophospholipid O-acyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1314050 MBOAT2 HP:0012126 RGD:8554872 IAGP RGD:713523641 H membrane bound glycerophospholipid O-acyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1314050 MBOAT2 HP:0030359 RGD:8554872 IAGP RGD:713681814 H membrane bound glycerophospholipid O-acyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1314050 MBOAT2 HP:0030359 RGD:8554872 IAGP RGD:713681878 H membrane bound glycerophospholipid O-acyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1314050 MBOAT2 HP:0100522 RGD:8554872 IAGP RGD:713681747 H membrane bound glycerophospholipid O-acyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1314050 MBOAT2 HP:0100526 RGD:8554872 IAGP RGD:713681782 H membrane bound glycerophospholipid O-acyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1314052 DEPDC1B HP:0001402 RGD:8554872 IAGP RGD:714076840 H DEP domain containing 1B gene taxon:9606 20260519 ClinVar RGD 1314052 DEPDC1B HP:0004808 RGD:8554872 IAGP RGD:714164926 H DEP domain containing 1B gene taxon:9606 20260707 ClinVar RGD 1314052 DEPDC1B HP:0006770 RGD:8554872 IAGP RGD:713883238 H DEP domain containing 1B gene taxon:9606 20260519 ClinVar RGD 1314052 DEPDC1B HP:0012126 RGD:8554872 IAGP RGD:713930280 H DEP domain containing 1B gene taxon:9606 20260519 ClinVar RGD 1314052 DEPDC1B HP:0100242 RGD:8554872 IAGP RGD:713883151 H DEP domain containing 1B gene taxon:9606 20260519 ClinVar RGD 1314052 DEPDC1B HP:0100242 RGD:8554872 IAGP RGD:714164926 H DEP domain containing 1B gene taxon:9606 20260519 ClinVar RGD 1314052 DEPDC1B HP:0100522 RGD:8554872 IAGP RGD:714164926 H DEP domain containing 1B gene taxon:9606 20260707 ClinVar RGD 1314052 DEPDC1B HP:0100526 RGD:8554872 IAGP RGD:714164926 H DEP domain containing 1B gene taxon:9606 20260707 ClinVar RGD 1314060 DUSP2 HP:0001402 RGD:8554872 IAGP RGD:714264085 H dual specificity phosphatase 2 gene taxon:9606 20260519 ClinVar RGD 1314060 DUSP2 HP:0002665 RGD:8554872 IAGP RGD:713684016 H dual specificity phosphatase 2 gene taxon:9606 20260519 ClinVar RGD 1314060 DUSP2 HP:0002665 RGD:8554872 IAGP RGD:713684028 H dual specificity phosphatase 2 gene taxon:9606 20260519 ClinVar RGD 1314060 DUSP2 HP:0002665 RGD:8554872 IAGP RGD:713684065 H dual specificity phosphatase 2 gene taxon:9606 20260519 ClinVar RGD 1314062 CARD6 HP:0006770 RGD:8554872 IAGP RGD:713876400 H caspase recruitment domain family member 6 gene taxon:9606 20260519 ClinVar RGD 1314062 CARD6 HP:0012126 RGD:8554872 IAGP RGD:713788353 H caspase recruitment domain family member 6 gene taxon:9606 20260519 ClinVar RGD 1314062 CARD6 HP:0100526 RGD:8554872 IAGP RGD:713788353 H caspase recruitment domain family member 6 gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0000972 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0000982 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0001402 RGD:8554872 IAGP RGD:713668981 H collagen type XIV alpha 1 chain gene taxon:9606 20260707 ClinVar RGD 1314064 COL14A1 HP:0001402 RGD:8554872 IAGP RGD:714084840 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0001402 RGD:8554872 IAGP RGD:714084856 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0002665 RGD:8554872 IAGP RGD:714086033 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0002671 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0002860 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0002861 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0002861 RGD:8554872 IAGP RGD:714085977 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0002861 RGD:8554872 IAGP RGD:714086223 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0002861 RGD:8554872 IAGP RGD:714086238 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0003002 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0004808 RGD:8554872 IAGP RGD:713597948 H collagen type XIV alpha 1 chain gene taxon:9606 20260707 ClinVar RGD 1314064 COL14A1 HP:0004808 RGD:8554872 IAGP RGD:713605317 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0004808 RGD:8554872 IAGP RGD:713989825 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0005584 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0006725 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0006770 RGD:8554872 IAGP RGD:714086216 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0008404 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0010622 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0011124 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0011797 RGD:8554872 IAGP RGD:713601321 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0012125 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0012126 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0012126 RGD:8554872 IAGP RGD:713597935 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0012126 RGD:8554872 IAGP RGD:713597948 H collagen type XIV alpha 1 chain gene taxon:9606 20260707 ClinVar RGD 1314064 COL14A1 HP:0012126 RGD:8554872 IAGP RGD:713668917 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0012126 RGD:8554872 IAGP RGD:713668929 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0012126 RGD:8554872 IAGP RGD:713668943 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0012126 RGD:8554872 IAGP RGD:713668959 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0012126 RGD:8554872 IAGP RGD:713668973 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0012189 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0012500 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0012531 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0025092 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0025114 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0030692 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0040162 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0040274 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0040276 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0045059 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0100242 RGD:8554872 IAGP RGD:713597948 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0100242 RGD:8554872 IAGP RGD:714085997 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0100242 RGD:8554872 IAGP RGD:714086083 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0100526 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314064 COL14A1 HP:0100526 RGD:8554872 IAGP RGD:150476262 H collagen type XIV alpha 1 chain gene taxon:9606 20260519 ClinVar RGD 1314064 COL14A1 HP:0100526 RGD:8554872 IAGP RGD:713597948 H collagen type XIV alpha 1 chain gene taxon:9606 20260707 ClinVar RGD 1314064 COL14A1 HP:0100526 RGD:8554872 IAGP RGD:713668917 H collagen type XIV alpha 1 chain gene taxon:9606 20260707 ClinVar RGD 1314064 COL14A1 HP:0100751 ORPHA:79501|RGD:8699517 IAGP H collagen type XIV alpha 1 chain gene taxon:9606 20230821 HPO RGD 1314067 NKAIN4 HP:0012126 RGD:8554872 IAGP RGD:713781420 H sodium/potassium transporting ATPase interacting 4 gene taxon:9606 20260519 ClinVar RGD 1314067 NKAIN4 HP:0100242 RGD:8554872 IAGP RGD:713964854 H sodium/potassium transporting ATPase interacting 4 gene taxon:9606 20260519 ClinVar RGD 1314069 TSPAN4 HP:0001402 RGD:8554872 IAGP RGD:713350491 H tetraspanin 4 gene taxon:9606 20260519 ClinVar RGD 1314069 TSPAN4 HP:0002861 RGD:8554872 IAGP RGD:713422335 H tetraspanin 4 gene taxon:9606 20260519 ClinVar RGD 1314069 TSPAN4 HP:0004808 RGD:8554872 IAGP RGD:714103241 H tetraspanin 4 gene taxon:9606 20260519 ClinVar RGD 1314069 TSPAN4 HP:0006725 RGD:8554872 IAGP RGD:713422039 H tetraspanin 4 gene taxon:9606 20260519 ClinVar RGD 1314069 TSPAN4 HP:0012126 RGD:8554872 IAGP RGD:714028130 H tetraspanin 4 gene taxon:9606 20260519 ClinVar RGD 1314069 TSPAN4 HP:0012126 RGD:8554872 IAGP RGD:714028152 H tetraspanin 4 gene taxon:9606 20260519 ClinVar RGD 1314069 TSPAN4 HP:0100242 RGD:8554872 IAGP RGD:713422294 H tetraspanin 4 gene taxon:9606 20260519 ClinVar RGD 1314069 TSPAN4 HP:0100242 RGD:8554872 IAGP RGD:713422357 H tetraspanin 4 gene taxon:9606 20260519 ClinVar RGD 1314074 FBXL7 HP:0030153 RGD:8554872 IAGP RGD:713898240 H F-box and leucine rich repeat protein 7 gene taxon:9606 20260519 ClinVar RGD 1314075 TFDP2 HP:0002665 RGD:8554872 IAGP RGD:713956226 H transcription factor Dp-2 gene taxon:9606 20260519 ClinVar RGD 1314075 TFDP2 HP:0004808 RGD:8554872 IAGP RGD:713957119 H transcription factor Dp-2 gene taxon:9606 20260519 ClinVar RGD 1314075 TFDP2 HP:0006770 RGD:8554872 IAGP RGD:713957119 H transcription factor Dp-2 gene taxon:9606 20260519 ClinVar RGD 1314075 TFDP2 HP:0012126 RGD:8554872 IAGP RGD:713596832 H transcription factor Dp-2 gene taxon:9606 20260519 ClinVar RGD 1314075 TFDP2 HP:0100242 RGD:8554872 IAGP RGD:713815726 H transcription factor Dp-2 gene taxon:9606 20260519 ClinVar RGD 1314075 TFDP2 HP:0100615 RGD:8554872 IAGP RGD:713957119 H transcription factor Dp-2 gene taxon:9606 20260519 ClinVar RGD 1314078 KERA HP:0000007 MIM:217300|PMID:10802664|RGD:8699517 IAGP H keratocan gene taxon:9606 20250912 HPO RGD 1314078 KERA HP:0000501 PMID:25741868|PMID:28799822|RGD:8554872 IAGP RGD:152999315 H keratocan gene taxon:9606 20260519 ClinVar RGD 1314078 KERA HP:0000540 MIM:217300|RGD:8699517 IAGP H keratocan gene taxon:9606 20230821 HPO RGD 1314078 KERA HP:0000568 MIM:217300|PMID:11726611|RGD:8699517 IAGP H keratocan gene taxon:9606 20250912 HPO RGD 1314078 KERA HP:0000647 MIM:217300|PMID:11726611|RGD:8699517 IAGP H keratocan gene taxon:9606 20250912 HPO RGD 1314078 KERA HP:0000647 PMID:25741868|PMID:28799822|RGD:8554872 IAGP RGD:152999315 H keratocan gene taxon:9606 20260519 ClinVar RGD 1314078 KERA HP:0001084 MIM:217300|RGD:8699517 IAGP H keratocan gene taxon:9606 20230821 HPO RGD 1314078 KERA HP:0007663 MIM:217300|PMID:11726611|RGD:8699517 IAGP H keratocan gene taxon:9606 20250912 HPO RGD 1314078 KERA HP:0007700 PMID:25741868|PMID:28799822|RGD:8554872 IAGP RGD:152999315 H keratocan gene taxon:9606 20260519 ClinVar RGD 1314078 KERA HP:0007707 PMID:25741868|PMID:28799822|RGD:8554872 IAGP RGD:152999315 H keratocan gene taxon:9606 20260519 ClinVar RGD 1314078 KERA HP:0007720 MIM:217300|PMID:11726611|RGD:8699517 IAGP H keratocan gene taxon:9606 20250912 HPO RGD 1314078 KERA HP:0007957 MIM:217300|PMID:11726611|RGD:8699517 IAGP H keratocan gene taxon:9606 20250912 HPO RGD 1314078 KERA HP:0011463 MIM:217300|PMID:11726611|RGD:8699517 IAGP H keratocan gene taxon:9606 20250912 HPO RGD 1314078 KERA HP:0011797 RGD:8554872 IAGP RGD:713656709 H keratocan gene taxon:9606 20260519 ClinVar RGD 1314078 KERA HP:0100242 RGD:8554872 IAGP RGD:714080360 H keratocan gene taxon:9606 20260519 ClinVar RGD 1314078 KERA HP:0100522 RGD:8554872 IAGP RGD:714080413 H keratocan gene taxon:9606 20260519 ClinVar RGD 1314078 KERA HP:0100689 MIM:217300|RGD:8699517 IAGP H keratocan gene taxon:9606 20230821 HPO RGD 1314080 EIPR1 HP:0006770 RGD:8554872 IAGP RGD:713769288 H EARP complex and GARP complex interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1314080 EIPR1 HP:0012126 RGD:8554872 IAGP RGD:713515901 H EARP complex and GARP complex interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1314080 EIPR1 HP:0012126 RGD:8554872 IAGP RGD:713515939 H EARP complex and GARP complex interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1314080 EIPR1 HP:0100242 RGD:8554872 IAGP RGD:713516349 H EARP complex and GARP complex interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1314080 EIPR1 HP:0100522 RGD:8554872 IAGP RGD:713766412 H EARP complex and GARP complex interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1314080 EIPR1 HP:0100526 RGD:8554872 IAGP RGD:713767299 H EARP complex and GARP complex interacting protein 1 gene taxon:9606 20260519 ClinVar RGD 1314085 PLPP7 HP:0100242 RGD:8554872 IAGP RGD:713555848 H phospholipid phosphatase 7 (inactive) gene taxon:9606 20260519 ClinVar RGD 1314085 PLPP7 HP:0100526 RGD:8554872 IAGP RGD:713555848 H phospholipid phosphatase 7 (inactive) gene taxon:9606 20260519 ClinVar RGD 1314090 TPTE2 HP:0002861 RGD:8554872 IAGP RGD:713857706 H transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene taxon:9606 20260519 ClinVar RGD 1314090 TPTE2 HP:0002861 RGD:8554872 IAGP RGD:713857893 H transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene taxon:9606 20260519 ClinVar RGD 1314090 TPTE2 HP:0003003 RGD:8554872 IAGP RGD:713857816 H transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene taxon:9606 20260519 ClinVar RGD 1314090 TPTE2 HP:0004808 RGD:8554872 IAGP RGD:713659559 H transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene taxon:9606 20260519 ClinVar RGD 1314090 TPTE2 HP:0006725 RGD:8554872 IAGP RGD:713857854 H transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene taxon:9606 20260519 ClinVar RGD 1314090 TPTE2 HP:0007716 RGD:8554872 IAGP RGD:713792319 H transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene taxon:9606 20260519 ClinVar RGD 1314090 TPTE2 HP:0012126 RGD:8554872 IAGP RGD:713659559 H transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene taxon:9606 20260519 ClinVar RGD 1314090 TPTE2 HP:0012126 RGD:8554872 IAGP RGD:713801254 H transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene taxon:9606 20260519 ClinVar RGD 1314090 TPTE2 HP:0012126 RGD:8554872 IAGP RGD:713801265 H transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene taxon:9606 20260519 ClinVar RGD 1314090 TPTE2 HP:0030153 RGD:8554872 IAGP RGD:713857837 H transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene taxon:9606 20260519 ClinVar RGD 1314090 TPTE2 HP:0100242 RGD:8554872 IAGP RGD:713659559 H transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene taxon:9606 20260519 ClinVar RGD 1314090 TPTE2 HP:0100522 RGD:8554872 IAGP RGD:713659550 H transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene taxon:9606 20260519 ClinVar RGD 1314090 TPTE2 HP:0100522 RGD:8554872 IAGP RGD:713659559 H transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene taxon:9606 20260519 ClinVar RGD 1314090 TPTE2 HP:0100526 RGD:8554872 IAGP RGD:713857744 H transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 gene taxon:9606 20260519 ClinVar RGD 1314092 DNAJB4 HP:0000007 MIM:620326|PMID:36264506|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0000023 MIM:620326|PMID:36344539|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0001249 MIM:620326|PMID:36264506|PMID:36344539|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0001270 MIM:620326|PMID:36264506|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0001511 MIM:620326|PMID:36344539|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0001639 MIM:620326|PMID:36264506|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0002094 MIM:620326|PMID:36264506|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0002861 RGD:8554872 IAGP RGD:714238207 H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20260519 ClinVar RGD 1314092 DNAJB4 HP:0002877 MIM:620326|PMID:36264506|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0002878 MIM:620326|PMID:36264506|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0003236 MIM:620326|PMID:36264506|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0003306 MIM:620326|PMID:36264506|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0003458 MIM:620326|PMID:36264506|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0003596 MIM:620326|PMID:36264506|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0006770 RGD:8554872 IAGP RGD:714238253 H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20260519 ClinVar RGD 1314092 DNAJB4 HP:0009113 MIM:620326|PMID:36264506|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0011462 MIM:620326|PMID:36264506|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0011463 MIM:620326|PMID:36264506|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0012444 MIM:620326|PMID:36344539|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0033364 MIM:620326|PMID:36344539|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314092 DNAJB4 HP:0033725 MIM:620326|PMID:36344539|RGD:8699517 IAGP H DnaJ heat shock protein family (Hsp40) member B4 gene taxon:9606 20250912 HPO RGD 1314094 CNDP2 HP:0004808 RGD:8554872 IAGP RGD:714188296 H carnosine dipeptidase 2 gene taxon:9606 20260519 ClinVar RGD 1314094 CNDP2 HP:0004808 RGD:8554872 IAGP RGD:714265223 H carnosine dipeptidase 2 gene taxon:9606 20260519 ClinVar RGD 1314094 CNDP2 HP:0012126 RGD:8554872 IAGP RGD:714269775 H carnosine dipeptidase 2 gene taxon:9606 20260519 ClinVar RGD 1314094 CNDP2 HP:0030153 RGD:8554872 IAGP RGD:714265223 H carnosine dipeptidase 2 gene taxon:9606 20260519 ClinVar RGD 1314094 CNDP2 HP:0030153 RGD:8554872 IAGP RGD:714266792 H carnosine dipeptidase 2 gene taxon:9606 20260519 ClinVar RGD 1314094 CNDP2 HP:0100242 RGD:8554872 IAGP RGD:714265223 H carnosine dipeptidase 2 gene taxon:9606 20260519 ClinVar RGD 1314094 CNDP2 HP:0100526 RGD:8554872 IAGP RGD:713759360 H carnosine dipeptidase 2 gene taxon:9606 20260519 ClinVar RGD 1314101 POMP HP:0000006 MIM:618048|PMID:26524591|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0000007 MIM:601952|PMID:20226437|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0000982 ORPHA:281201|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20230821 HPO RGD 1314101 POMP HP:0000988 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0001036 MIM:601952|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20230821 HPO RGD 1314101 POMP HP:0001156 MIM:618048|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20230821 HPO RGD 1314101 POMP HP:0001250 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0001402 RGD:8554872 IAGP RGD:714158404 H proteasome maturation protein gene taxon:9606 20260519 ClinVar RGD 1314101 POMP HP:0001402 RGD:8554872 IAGP RGD:714158408 H proteasome maturation protein gene taxon:9606 20260519 ClinVar RGD 1314101 POMP HP:0001482 MIM:618048|PMID:26524591|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0001508 MIM:618048|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20230821 HPO RGD 1314101 POMP HP:0001795 MIM:601952|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20230821 HPO RGD 1314101 POMP HP:0001873 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0001945 MIM:618048|PMID:26524591|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0002716 MIM:618048|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20230821 HPO RGD 1314101 POMP HP:0002718 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0002829 MIM:618048|PMID:26524591|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0003237 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0003261 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0003493 MIM:618048|PMID:26524591|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0003493 PMID:25741868|RGD:8554872 IAGP RGD:13528361 H proteasome maturation protein gene taxon:9606 20260602 ClinVar RGD 1314101 POMP HP:0003565 MIM:618048|PMID:26524591|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0003577 MIM:618048|PMID:26524591|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0003623 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0004429 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0007465 MIM:601952|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20230821 HPO RGD 1314101 POMP HP:0007479 MIM:601952|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20230821 HPO RGD 1314101 POMP HP:0007490 MIM:601952|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20230821 HPO RGD 1314101 POMP HP:0008064 MIM:601952|ORPHA:281201|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250416 HPO RGD 1314101 POMP HP:0008404 MIM:601952|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20230821 HPO RGD 1314101 POMP HP:0009125 MIM:618048|PMID:26524591|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0009775 MIM:601952|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20230821 HPO RGD 1314101 POMP HP:0010976 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0011227 MIM:618048|PMID:26524591|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0012126 RGD:8554872 IAGP RGD:713986730 H proteasome maturation protein gene taxon:9606 20260519 ClinVar RGD 1314101 POMP HP:0025379 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0025528 MIM:618048|PMID:26524591|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0030084 MIM:618048|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20230821 HPO RGD 1314101 POMP HP:0030374 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0031234 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0032069 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0033221 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0034156 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314101 POMP HP:0100242 RGD:8554872 IAGP RGD:713865171 H proteasome maturation protein gene taxon:9606 20260519 ClinVar RGD 1314101 POMP HP:0100522 RGD:8554872 IAGP RGD:713865103 H proteasome maturation protein gene taxon:9606 20260519 ClinVar RGD 1314101 POMP HP:0100539 MIM:618048|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20230821 HPO RGD 1314101 POMP HP:0410243 MIM:618048|PMID:29805043|RGD:8699517 IAGP H proteasome maturation protein gene taxon:9606 20250912 HPO RGD 1314103 PRPF31 HP:0000006 MIM:600138|PMID:17325180|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20260209 HPO RGD 1314103 PRPF31 HP:0000405 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0000407 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0000501 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0000505 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0000510 MIM:600138|PMID:20939871|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20260209 HPO RGD 1314103 PRPF31 HP:0000510 PMID:16199547|PMID:18317597|PMID:23950152|PMID:25741868|PMID:28492532|PMID:30902645|PMID:32531858|RGD:8554872 IAGP RGD:38464363 H pre-mRNA processing factor 31 gene taxon:9606 20250311 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:16799052|PMID:23288994|PMID:25741868|PMID:28492532|PMID:29847639|PMID:30582903|PMID:34906470|RGD:8554872 IAGP RGD:26909547 H pre-mRNA processing factor 31 gene taxon:9606 20230606 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:16917484|PMID:25525159|PMID:25741868|PMID:28192796|PMID:28492532|PMID:30582903|PMID:34198599|RGD:8554872 IAGP RGD:12742667 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:18317597|PMID:23950152|PMID:25324289|PMID:28492532|RGD:8554872 IAGP RGD:9480337 H pre-mRNA processing factor 31 gene taxon:9606 20230214 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:18317597|PMID:23950152|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29260190|PMID:29305715|PMID:30029497|PMID:30360737|PMID:30582903|PMID:31213501|PMID:32531858|PMID:33090715|PMID:33946315|PMID:34906470|PMID:35138024|PMID:36819107|RGD:8554872 IAGP RGD:11345589 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:18317597|PMID:23950152|PMID:25741868|PMID:28492532|PMID:32014492|RGD:8554872 IAGP RGD:13705333 H pre-mRNA processing factor 31 gene taxon:9606 20260616 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:18317597|PMID:23950152|PMID:28492532|PMID:30921587|RGD:8554872 IAGP RGD:21076020 H pre-mRNA processing factor 31 gene taxon:9606 20220420 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:18317597|PMID:23950152|PMID:28492532|PMID:31814694|RGD:8554872 IAGP RGD:21405120 H pre-mRNA processing factor 31 gene taxon:9606 20240312 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:18317597|PMID:23950152|PMID:28492532|RGD:8554872 IAGP RGD:714054410 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:19506198|PMID:28492532|RGD:8554872 IAGP RGD:10050805 H pre-mRNA processing factor 31 gene taxon:9606 20260707 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38465012 H pre-mRNA processing factor 31 gene taxon:9606 20220420 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:25741868|PMID:30718709|RGD:8554872 IAGP RGD:14698363 H pre-mRNA processing factor 31 gene taxon:9606 20250506 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:25741868|PMID:34906470|RGD:8554872 IAGP RGD:11633232 H pre-mRNA processing factor 31 gene taxon:9606 20230606 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:25741868|PMID:34906470|RGD:8554872 IAGP RGD:150438525 H pre-mRNA processing factor 31 gene taxon:9606 20230606 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:38464347 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:38464352 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:38464357 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:38464994 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:38464998 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:38465005 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:38465024 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:25741868|RGD:8554872 IAGP RGD:617153465 H pre-mRNA processing factor 31 gene taxon:9606 20250715 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|PMID:28512305|PMID:29260190|PMID:30718709|PMID:36317469|RGD:8554872 IAGP RGD:14698539 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|PMID:33095315|RGD:8554872 IAGP RGD:11627106 H pre-mRNA processing factor 31 gene taxon:9606 20220420 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11613857 H pre-mRNA processing factor 31 gene taxon:9606 20220510 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11617416 H pre-mRNA processing factor 31 gene taxon:9606 20240312 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11617617 H pre-mRNA processing factor 31 gene taxon:9606 20210608 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11620055 H pre-mRNA processing factor 31 gene taxon:9606 20230214 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11626055 H pre-mRNA processing factor 31 gene taxon:9606 20220510 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11629851 H pre-mRNA processing factor 31 gene taxon:9606 20220510 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11630152 H pre-mRNA processing factor 31 gene taxon:9606 20220510 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11631682 H pre-mRNA processing factor 31 gene taxon:9606 20210706 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11650463 H pre-mRNA processing factor 31 gene taxon:9606 20230214 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:11662784 H pre-mRNA processing factor 31 gene taxon:9606 20220510 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28871308 H pre-mRNA processing factor 31 gene taxon:9606 20241112 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28871312 H pre-mRNA processing factor 31 gene taxon:9606 20220510 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28871316 H pre-mRNA processing factor 31 gene taxon:9606 20220420 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28871320 H pre-mRNA processing factor 31 gene taxon:9606 20220510 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28873198 H pre-mRNA processing factor 31 gene taxon:9606 20220420 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28880582 H pre-mRNA processing factor 31 gene taxon:9606 20230214 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28880983 H pre-mRNA processing factor 31 gene taxon:9606 20230214 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28880991 H pre-mRNA processing factor 31 gene taxon:9606 20220510 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28909833 H pre-mRNA processing factor 31 gene taxon:9606 20220510 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28909836 H pre-mRNA processing factor 31 gene taxon:9606 20240312 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28909849 H pre-mRNA processing factor 31 gene taxon:9606 20210608 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:28492532|RGD:8554872 IAGP RGD:28909857 H pre-mRNA processing factor 31 gene taxon:9606 20220420 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:30718709|RGD:8554872 IAGP RGD:14698360 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:30718709|RGD:8554872 IAGP RGD:14698361 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:30718709|RGD:8554872 IAGP RGD:14698362 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:30718709|RGD:8554872 IAGP RGD:14698364 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:30718709|RGD:8554872 IAGP RGD:14698377 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:30718709|RGD:8554872 IAGP RGD:14698378 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:30718709|RGD:8554872 IAGP RGD:14698379 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:30718709|RGD:8554872 IAGP RGD:14698659 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 PMID:30718709|RGD:8554872 IAGP RGD:14698660 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:11618847 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:11620881 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:11622770 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:11623627 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:11623980 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:11631557 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:11655923 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:13434952 H pre-mRNA processing factor 31 gene taxon:9606 20260602 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:13435051 H pre-mRNA processing factor 31 gene taxon:9606 20260602 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:13435058 H pre-mRNA processing factor 31 gene taxon:9606 20260602 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:13435064 H pre-mRNA processing factor 31 gene taxon:9606 20260602 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:13435172 H pre-mRNA processing factor 31 gene taxon:9606 20260602 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:21076018 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:21076019 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:21076024 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:21405118 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:21405119 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:28867332 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:28867334 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:28867336 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:28873027 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:28873030 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:28873194 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:28880998 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:28909840 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:28909845 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:405867403 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:407469971 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:713969211 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:9480385 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000510 RGD:8554872 IAGP RGD:9480386 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000512 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0000543 MIM:600138|ORPHA:791|PMID:20939871|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20260209 HPO RGD 1314103 PRPF31 HP:0000546 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20240118 HPO RGD 1314103 PRPF31 HP:0000548 PMID:16917484|PMID:25525159|PMID:25741868|PMID:28192796|PMID:28492532|PMID:30582903|PMID:34198599|RGD:8554872 IAGP RGD:12742667 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000548 PMID:18317597|PMID:23950152|PMID:28492532|RGD:8554872 IAGP RGD:714054410 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000548 RGD:8554872 IAGP RGD:405867403 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000548 RGD:8554872 IAGP RGD:407469971 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000548 RGD:8554872 IAGP RGD:713969211 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000551 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20241212 HPO RGD 1314103 PRPF31 HP:0000556 PMID:11545739|PMID:17325180|PMID:17576681|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29957067|PMID:30582903|PMID:31054281|PMID:8808602|PMID:9536098|RGD:8554872 IAGP RGD:8558044 H pre-mRNA processing factor 31 gene taxon:9606 20230214 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:11545739|PMID:23950152|PMID:25741868|PMID:28492532|PMID:36819107|RGD:8554872 IAGP RGD:151738423 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:16199547|PMID:16799052|PMID:18317597|PMID:23950152|PMID:28492532|RGD:8554872 IAGP RGD:10047677 H pre-mRNA processing factor 31 gene taxon:9606 20220420 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:16199547|PMID:18317597|PMID:20861475|PMID:23950152|PMID:25741868|PMID:28492532|PMID:31892304|PMID:32014492|RGD:8554872 IAGP RGD:26910493 H pre-mRNA processing factor 31 gene taxon:9606 20230214 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:16199547|PMID:18317597|PMID:23950152|PMID:25741868|PMID:27898983|PMID:28492532|PMID:29785639|PMID:32531858|RGD:8554872 IAGP RGD:26910024 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:16199547|PMID:18317597|PMID:23950152|PMID:25741868|PMID:28157192|PMID:28492532|RGD:8554872 IAGP RGD:156295381 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:16199547|PMID:18317597|PMID:23950152|PMID:25741868|PMID:28492532|PMID:3071870|PMID:30718709|RGD:8554872 IAGP RGD:14698470 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:16199547|PMID:18317597|PMID:23950152|PMID:28492532|PMID:30718709|RGD:8554872 IAGP RGD:26909748 H pre-mRNA processing factor 31 gene taxon:9606 20220420 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:16799052|PMID:18317597|PMID:23950152|PMID:28492532|RGD:8554872 IAGP RGD:26909279 H pre-mRNA processing factor 31 gene taxon:9606 20230214 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:16799052|PMID:23288994|PMID:25741868|PMID:28492532|PMID:29847639|PMID:30582903|PMID:34906470|RGD:8554872 IAGP RGD:26909547 H pre-mRNA processing factor 31 gene taxon:9606 20230606 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:16799052|PMID:2552515|PMID:25741868|RGD:8554872 IAGP RGD:596939807 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:16917484|PMID:25525159|PMID:25741868|PMID:28192796|PMID:28492532|PMID:30582903|PMID:34198599|RGD:8554872 IAGP RGD:12742667 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:17003455|PMID:25741868|PMID:28041643|PMID:32531858|RGD:8554872 IAGP RGD:596941571 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:17003455|PMID:25741868|PMID:2825385|RGD:8554872 IAGP RGD:596944146 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151770800 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:18317597|PMID:23950152|PMID:24265693|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26909815 H pre-mRNA processing factor 31 gene taxon:9606 20241210 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:18317597|PMID:23950152|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29260190|PMID:29305715|PMID:30029497|PMID:30360737|PMID:30582903|PMID:31213501|PMID:32531858|PMID:33090715|PMID:33946315|PMID:34906470|PMID:35138024|PMID:36819107|RGD:8554872 IAGP RGD:11345589 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:18317597|PMID:23950152|PMID:25741868|PMID:28492532|PMID:34906470|RGD:8554872 IAGP RGD:26910266 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:18317597|PMID:23950152|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:127237573 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:18317597|PMID:23950152|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405186646 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:18317597|PMID:23950152|PMID:26872967|PMID:28492532|PMID:33946315|RGD:8554872 IAGP RGD:11051478 H pre-mRNA processing factor 31 gene taxon:9606 20230214 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:18317597|PMID:23950152|PMID:28492532|RGD:8554872 IAGP RGD:26909723 H pre-mRNA processing factor 31 gene taxon:9606 20240312 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:18317597|PMID:23950152|PMID:28492532|RGD:8554872 IAGP RGD:26910225 H pre-mRNA processing factor 31 gene taxon:9606 20220420 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:18317597|PMID:23950152|PMID:28492532|RGD:8554872 IAGP RGD:26910989 H pre-mRNA processing factor 31 gene taxon:9606 20220420 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:19506198|PMID:28492532|RGD:8554872 IAGP RGD:10050805 H pre-mRNA processing factor 31 gene taxon:9606 20260707 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:23343310|PMID:28492532|RGD:8554872 IAGP RGD:26909757 H pre-mRNA processing factor 31 gene taxon:9606 20230214 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:24202059|PMID:25741868|PMID:3253185|RGD:8554872 IAGP RGD:28892531 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:24265693|PMID:25741868|PMID:3253185|RGD:8554872 IAGP RGD:38464367 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:24664689|PMID:28492532|RGD:8554872 IAGP RGD:13486903 H pre-mRNA processing factor 31 gene taxon:9606 20230214 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25356976|PMID:25741868|PMID:28492532|PMID:31047384|PMID:32037395|PMID:33608557|RGD:8554872 IAGP RGD:13795140 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:126910252 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:14396921 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405163858 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|PMID:29847639|RGD:8554872 IAGP RGD:596944839 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|PMID:31106028|PMID:3513802|RGD:8554872 IAGP RGD:596942444 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|PMID:32531858|PMID:33749171|PMID:35836572|RGD:8554872 IAGP RGD:38464372 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|PMID:32531858|RGD:8554872 IAGP RGD:596939128 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|PMID:33749171|RGD:8554872 IAGP RGD:596941200 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|PMID:36338669|RGD:8554872 IAGP RGD:596945701 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|PMID:36460718|RGD:8554872 IAGP RGD:596945699 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:21076023 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:405263665 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:405853924 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939157 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939298 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596939417 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596940044 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941614 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596941953 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596942168 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596942453 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596942754 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596943986 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944007 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944013 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944014 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596944691 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596945471 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596945692 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596945774 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:25741868|RGD:8554872 IAGP RGD:596945854 H pre-mRNA processing factor 31 gene taxon:9606 20250107 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:27208204|PMID:28492532|RGD:8554872 IAGP RGD:11351229 H pre-mRNA processing factor 31 gene taxon:9606 20220420 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:28492532|PMID:30582903|PMID:32014492|RGD:8554872 IAGP RGD:26910687 H pre-mRNA processing factor 31 gene taxon:9606 20240403 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:28492532|PMID:30718709|RGD:8554872 IAGP RGD:14698703 H pre-mRNA processing factor 31 gene taxon:9606 20250311 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:152077772 H pre-mRNA processing factor 31 gene taxon:9606 20241112 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26909590 H pre-mRNA processing factor 31 gene taxon:9606 20230214 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26910157 H pre-mRNA processing factor 31 gene taxon:9606 20220420 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26910319 H pre-mRNA processing factor 31 gene taxon:9606 20220420 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26910566 H pre-mRNA processing factor 31 gene taxon:9606 20220420 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:26910910 H pre-mRNA processing factor 31 gene taxon:9606 20230214 ClinVar RGD 1314103 PRPF31 HP:0000556 PMID:28492532|RGD:8554872 IAGP RGD:405263638 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:11351154 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:11351161 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:11351181 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26909278 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26909333 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26909509 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26909610 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26909623 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26909677 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26909827 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26910118 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26910127 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26910297 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26910517 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26910558 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26910754 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26910776 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26910901 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:26910935 H pre-mRNA processing factor 31 gene taxon:9606 20210323 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:405263635 H pre-mRNA processing factor 31 gene taxon:9606 20240409 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:405263645 H pre-mRNA processing factor 31 gene taxon:9606 20240409 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:405263648 H pre-mRNA processing factor 31 gene taxon:9606 20240409 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:405263649 H pre-mRNA processing factor 31 gene taxon:9606 20240409 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:405263651 H pre-mRNA processing factor 31 gene taxon:9606 20240409 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:405263652 H pre-mRNA processing factor 31 gene taxon:9606 20240409 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:405263654 H pre-mRNA processing factor 31 gene taxon:9606 20240409 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:405263655 H pre-mRNA processing factor 31 gene taxon:9606 20240409 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:405263656 H pre-mRNA processing factor 31 gene taxon:9606 20240409 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:405263659 H pre-mRNA processing factor 31 gene taxon:9606 20240409 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:405263660 H pre-mRNA processing factor 31 gene taxon:9606 20240409 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:405263662 H pre-mRNA processing factor 31 gene taxon:9606 20240409 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:405867403 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:407469971 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000556 RGD:8554872 IAGP RGD:713969211 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0000563 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0000602 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0000608 MIM:600138|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0000613 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0000618 MIM:600138|ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20250416 HPO RGD 1314103 PRPF31 HP:0000639 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0000648 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0000662 MIM:600138|ORPHA:791|PMID:20939871|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20260209 HPO RGD 1314103 PRPF31 HP:0000842 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0001105 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20241212 HPO RGD 1314103 PRPF31 HP:0001133 MIM:600138|PMID:20939871|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20260209 HPO RGD 1314103 PRPF31 HP:0003829 MIM:600138|PMID:23041261|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20250912 HPO RGD 1314103 PRPF31 HP:0007401 MIM:600138|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0007663 MIM:600138|ORPHA:791|PMID:20939871|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20260209 HPO RGD 1314103 PRPF31 HP:0007675 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0007703 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0007737 MIM:600138|ORPHA:791|PMID:17325180|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20260209 HPO RGD 1314103 PRPF31 HP:0007787 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20240118 HPO RGD 1314103 PRPF31 HP:0007843 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20260209 HPO RGD 1314103 PRPF31 HP:0007994 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20240118 HPO RGD 1314103 PRPF31 HP:0008046 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20230821 HPO RGD 1314103 PRPF31 HP:0011505 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20241212 HPO RGD 1314103 PRPF31 HP:0012426 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20241212 HPO RGD 1314103 PRPF31 HP:0030359 RGD:8554872 IAGP RGD:713875307 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0030466 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20241212 HPO RGD 1314103 PRPF31 HP:0030488 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20241212 HPO RGD 1314103 PRPF31 HP:0030610 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20241212 HPO RGD 1314103 PRPF31 HP:0030629 MIM:600138|PMID:20939871|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20250912 HPO RGD 1314103 PRPF31 HP:0030786 ORPHA:791|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20240118 HPO RGD 1314103 PRPF31 HP:0031172 RGD:8554872 IAGP RGD:405867403 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0031172 RGD:8554872 IAGP RGD:407469971 H pre-mRNA processing factor 31 gene taxon:9606 20260519 ClinVar RGD 1314103 PRPF31 HP:0040049 MIM:600138|PMID:17325180|RGD:8699517 IAGP H pre-mRNA processing factor 31 gene taxon:9606 20250912 HPO RGD 1314108 RASGEF1A HP:0002861 RGD:8554872 IAGP RGD:713402329 H RasGEF domain family member 1A gene taxon:9606 20260519 ClinVar RGD 1314108 RASGEF1A HP:0002861 RGD:8554872 IAGP RGD:713402370 H RasGEF domain family member 1A gene taxon:9606 20260519 ClinVar RGD 1314108 RASGEF1A HP:0004808 RGD:8554872 IAGP RGD:713779093 H RasGEF domain family member 1A gene taxon:9606 20260519 ClinVar RGD 1314108 RASGEF1A HP:0012126 RGD:8554872 IAGP RGD:713742572 H RasGEF domain family member 1A gene taxon:9606 20260519 ClinVar RGD 1314108 RASGEF1A HP:0030359 RGD:8554872 IAGP RGD:713402248 H RasGEF domain family member 1A gene taxon:9606 20260519 ClinVar RGD 1314110 SPIRE2 HP:0002861 RGD:8554872 IAGP RGD:714001480 H spire type actin nucleation factor 2 gene taxon:9606 20260519 ClinVar RGD 1314110 SPIRE2 HP:0006770 RGD:8554872 IAGP RGD:714001573 H spire type actin nucleation factor 2 gene taxon:9606 20260519 ClinVar RGD 1314110 SPIRE2 HP:0006770 RGD:8554872 IAGP RGD:714001578 H spire type actin nucleation factor 2 gene taxon:9606 20260519 ClinVar RGD 1314110 SPIRE2 HP:0011797 RGD:8554872 IAGP RGD:713672259 H spire type actin nucleation factor 2 gene taxon:9606 20260519 ClinVar RGD 1314110 SPIRE2 HP:0011797 RGD:8554872 IAGP RGD:713672300 H spire type actin nucleation factor 2 gene taxon:9606 20260519 ClinVar RGD 1314110 SPIRE2 HP:0012126 RGD:8554872 IAGP RGD:714134175 H spire type actin nucleation factor 2 gene taxon:9606 20260519 ClinVar RGD 1314110 SPIRE2 HP:0012126 RGD:8554872 IAGP RGD:714134191 H spire type actin nucleation factor 2 gene taxon:9606 20260519 ClinVar RGD 1314110 SPIRE2 HP:0012126 RGD:8554872 IAGP RGD:714134225 H spire type actin nucleation factor 2 gene taxon:9606 20260519 ClinVar RGD 1314110 SPIRE2 HP:0030153 RGD:8554872 IAGP RGD:714134175 H spire type actin nucleation factor 2 gene taxon:9606 20260519 ClinVar RGD 1314110 SPIRE2 HP:0100522 RGD:8554872 IAGP RGD:714134175 H spire type actin nucleation factor 2 gene taxon:9606 20260519 ClinVar RGD 1314110 SPIRE2 HP:0100526 RGD:8554872 IAGP RGD:714001417 H spire type actin nucleation factor 2 gene taxon:9606 20260519 ClinVar RGD 1314110 SPIRE2 HP:0100526 RGD:8554872 IAGP RGD:714001494 H spire type actin nucleation factor 2 gene taxon:9606 20260519 ClinVar RGD 1314110 SPIRE2 HP:0100526 RGD:8554872 IAGP RGD:714134175 H spire type actin nucleation factor 2 gene taxon:9606 20260519 ClinVar RGD 1314113 ARIH2 HP:0000729 RGD:8554872 IAGP RGD:405008320 H ariadne RBR E3 ubiquitin protein ligase 2 gene taxon:9606 20240319 ClinVar RGD 1314113 ARIH2 HP:0001402 RGD:8554872 IAGP RGD:713771757 H ariadne RBR E3 ubiquitin protein ligase 2 gene taxon:9606 20260519 ClinVar RGD 1314113 ARIH2 HP:0002861 RGD:8554872 IAGP RGD:713821392 H ariadne RBR E3 ubiquitin protein ligase 2 gene taxon:9606 20260519 ClinVar RGD 1314113 ARIH2 HP:0004808 RGD:8554872 IAGP RGD:713735679 H ariadne RBR E3 ubiquitin protein ligase 2 gene taxon:9606 20260519 ClinVar RGD 1314113 ARIH2 HP:0006725 RGD:8554872 IAGP RGD:713821342 H ariadne RBR E3 ubiquitin protein ligase 2 gene taxon:9606 20260519 ClinVar RGD 1314113 ARIH2 HP:0006770 RGD:8554872 IAGP RGD:713821455 H ariadne RBR E3 ubiquitin protein ligase 2 gene taxon:9606 20260519 ClinVar RGD 1314113 ARIH2 HP:0011797 RGD:8554872 IAGP RGD:713583926 H ariadne RBR E3 ubiquitin protein ligase 2 gene taxon:9606 20260519 ClinVar RGD 1314113 ARIH2 HP:0012126 RGD:8554872 IAGP RGD:713937841 H ariadne RBR E3 ubiquitin protein ligase 2 gene taxon:9606 20260519 ClinVar RGD 1314113 ARIH2 HP:0012126 RGD:8554872 IAGP RGD:713937854 H ariadne RBR E3 ubiquitin protein ligase 2 gene taxon:9606 20260519 ClinVar RGD 1314113 ARIH2 HP:0012126 RGD:8554872 IAGP RGD:713937874 H ariadne RBR E3 ubiquitin protein ligase 2 gene taxon:9606 20260519 ClinVar RGD 1314113 ARIH2 HP:0100242 RGD:8554872 IAGP RGD:713821374 H ariadne RBR E3 ubiquitin protein ligase 2 gene taxon:9606 20260519 ClinVar RGD 1314113 ARIH2 HP:0100522 RGD:8554872 IAGP RGD:713821325 H ariadne RBR E3 ubiquitin protein ligase 2 gene taxon:9606 20260519 ClinVar RGD 1314113 ARIH2 HP:0100526 RGD:8554872 IAGP RGD:713821489 H ariadne RBR E3 ubiquitin protein ligase 2 gene taxon:9606 20260519 ClinVar RGD 1314115 ABCG4 HP:0001402 RGD:8554872 IAGP RGD:714091424 H ATP binding cassette subfamily G member 4 gene taxon:9606 20260519 ClinVar RGD 1314115 ABCG4 HP:0011797 RGD:8554872 IAGP RGD:713741115 H ATP binding cassette subfamily G member 4 gene taxon:9606 20260519 ClinVar RGD 1314115 ABCG4 HP:0012125 RGD:8554872 IAGP RGD:9687076 H ATP binding cassette subfamily G member 4 gene taxon:9606 20250708 ClinVar RGD 1314117 GPR158 HP:0001402 RGD:8554872 IAGP RGD:714157299 H G protein-coupled receptor 158 gene taxon:9606 20260519 ClinVar RGD 1314117 GPR158 HP:0002861 RGD:8554872 IAGP RGD:713387514 H G protein-coupled receptor 158 gene taxon:9606 20260519 ClinVar RGD 1314117 GPR158 HP:0100242 RGD:8554872 IAGP RGD:713387549 H G protein-coupled receptor 158 gene taxon:9606 20260519 ClinVar RGD 1314117 GPR158 HP:0100242 RGD:8554872 IAGP RGD:713387611 H G protein-coupled receptor 158 gene taxon:9606 20260519 ClinVar RGD 1314117 GPR158 HP:0100522 RGD:8554872 IAGP RGD:713387481 H G protein-coupled receptor 158 gene taxon:9606 20260519 ClinVar RGD 1314120 CALN1 HP:0004808 RGD:8554872 IAGP RGD:713990989 H calneuron 1 gene taxon:9606 20260519 ClinVar RGD 1314120 CALN1 HP:0012126 RGD:8554872 IAGP RGD:713664419 H calneuron 1 gene taxon:9606 20260519 ClinVar RGD 1314126 ARPC2 HP:0001402 RGD:8554872 IAGP RGD:713744962 H actin related protein 2/3 complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1314126 ARPC2 HP:0001402 RGD:8554872 IAGP RGD:714263198 H actin related protein 2/3 complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1314126 ARPC2 HP:0002861 RGD:8554872 IAGP RGD:713820119 H actin related protein 2/3 complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1314126 ARPC2 HP:0004808 RGD:8554872 IAGP RGD:713783715 H actin related protein 2/3 complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1314126 ARPC2 HP:0006770 RGD:8554872 IAGP RGD:713820175 H actin related protein 2/3 complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1314126 ARPC2 HP:0006770 RGD:8554872 IAGP RGD:713820286 H actin related protein 2/3 complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1314126 ARPC2 HP:0011797 RGD:8554872 IAGP RGD:713783728 H actin related protein 2/3 complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1314126 ARPC2 HP:0012126 RGD:8554872 IAGP RGD:713508148 H actin related protein 2/3 complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1314126 ARPC2 HP:0012126 RGD:8554872 IAGP RGD:713508180 H actin related protein 2/3 complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1314126 ARPC2 HP:0030153 RGD:8554872 IAGP RGD:713786797 H actin related protein 2/3 complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1314126 ARPC2 HP:0030359 RGD:8554872 IAGP RGD:713820385 H actin related protein 2/3 complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1314126 ARPC2 HP:0100242 RGD:8554872 IAGP RGD:713786797 H actin related protein 2/3 complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1314126 ARPC2 HP:0100242 RGD:8554872 IAGP RGD:713820267 H actin related protein 2/3 complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1314126 ARPC2 HP:0100522 RGD:8554872 IAGP RGD:713820401 H actin related protein 2/3 complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1314126 ARPC2 HP:0100526 RGD:8554872 IAGP RGD:713820299 H actin related protein 2/3 complex subunit 2 gene taxon:9606 20260519 ClinVar RGD 1314128 RIN3 HP:0002860 PMID:27993330|RGD:8554872 IAGP RGD:243053766 H Ras and Rab interactor 3 gene taxon:9606 20230411 ClinVar RGD 1314128 RIN3 HP:0002861 RGD:8554872 IAGP RGD:713546751 H Ras and Rab interactor 3 gene taxon:9606 20260519 ClinVar RGD 1314128 RIN3 HP:0004808 RGD:8554872 IAGP RGD:714163931 H Ras and Rab interactor 3 gene taxon:9606 20260707 ClinVar RGD 1314128 RIN3 HP:0006770 RGD:8554872 IAGP RGD:713546785 H Ras and Rab interactor 3 gene taxon:9606 20260519 ClinVar RGD 1314128 RIN3 HP:0012126 RGD:8554872 IAGP RGD:713957005 H Ras and Rab interactor 3 gene taxon:9606 20260519 ClinVar RGD 1314128 RIN3 HP:0012126 RGD:8554872 IAGP RGD:713957009 H Ras and Rab interactor 3 gene taxon:9606 20260519 ClinVar RGD 1314128 RIN3 HP:0012126 RGD:8554872 IAGP RGD:713957013 H Ras and Rab interactor 3 gene taxon:9606 20260519 ClinVar RGD 1314128 RIN3 HP:0030078 PMID:27993330|RGD:8554872 IAGP RGD:243053458 H Ras and Rab interactor 3 gene taxon:9606 20230411 ClinVar RGD 1314128 RIN3 HP:0030078 PMID:27993330|RGD:8554872 IAGP RGD:243053461 H Ras and Rab interactor 3 gene taxon:9606 20230411 ClinVar RGD 1314128 RIN3 HP:0030078 PMID:27993330|RGD:8554872 IAGP RGD:243053508 H Ras and Rab interactor 3 gene taxon:9606 20230411 ClinVar RGD 1314128 RIN3 HP:0030153 RGD:8554872 IAGP RGD:713546736 H Ras and Rab interactor 3 gene taxon:9606 20260519 ClinVar RGD 1314128 RIN3 HP:0030153 RGD:8554872 IAGP RGD:714163931 H Ras and Rab interactor 3 gene taxon:9606 20260707 ClinVar RGD 1314128 RIN3 HP:0030359 RGD:8554872 IAGP RGD:713546725 H Ras and Rab interactor 3 gene taxon:9606 20260519 ClinVar RGD 1314128 RIN3 HP:0100242 RGD:8554872 IAGP RGD:714163931 H Ras and Rab interactor 3 gene taxon:9606 20260707 ClinVar RGD 1314128 RIN3 HP:0100242 RGD:8554872 IAGP RGD:714163937 H Ras and Rab interactor 3 gene taxon:9606 20260519 ClinVar RGD 1314128 RIN3 HP:0100522 RGD:8554872 IAGP RGD:713354013 H Ras and Rab interactor 3 gene taxon:9606 20260519 ClinVar RGD 1314128 RIN3 HP:0100526 RGD:8554872 IAGP RGD:714163931 H Ras and Rab interactor 3 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0000717 PMID:21681106|PMID:30208311|RGD:8554872 IAGP RGD:14351966 H astrotactin 2 gene taxon:9606 20211207 ClinVar RGD 1314130 ASTN2 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:155798742 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0001402 RGD:8554872 IAGP RGD:714087279 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0002861 RGD:8554872 IAGP RGD:713491640 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0004808 RGD:8554872 IAGP RGD:405275663 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0004808 RGD:8554872 IAGP RGD:714254253 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0006770 RGD:8554872 IAGP RGD:713491666 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0007716 RGD:8554872 IAGP RGD:713510776 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0012126 RGD:8554872 IAGP RGD:713716545 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0012126 RGD:8554872 IAGP RGD:713716597 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0030153 RGD:8554872 IAGP RGD:713491715 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0030359 RGD:8554872 IAGP RGD:713491896 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0030359 RGD:8554872 IAGP RGD:713491977 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0100242 RGD:8554872 IAGP RGD:405273124 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0100242 RGD:8554872 IAGP RGD:713491743 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0100522 RGD:8554872 IAGP RGD:713716579 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314130 ASTN2 HP:0100526 RGD:8554872 IAGP RGD:405275663 H astrotactin 2 gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000007 MIM:236670|MIM:606612|MIM:607155|MIM:613153|PMID:11592034|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0000010 PMID:25741868|PMID:28492532|PMID:33077954|RGD:8554872 IAGP RGD:151797319 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000011 PMID:25741868|PMID:28492532|PMID:33077954|RGD:8554872 IAGP RGD:151797319 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000028 MIM:236670|ORPHA:370968|ORPHA:899|PMID:15637732|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0000050 MIM:236670|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000054 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000076 PMID:25741868|PMID:28492532|PMID:33077954|RGD:8554872 IAGP RGD:151797319 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000110 MIM:236670|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000153 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000158 MIM:606612|MIM:607155|ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0000163 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000175 MIM:236670|ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0000176 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000193 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000204 MIM:236670|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000238 MIM:236670|MIM:613153|ORPHA:370959|ORPHA:588|ORPHA:899|PMID:15121789|PMID:15637732|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0000238 RGD:11667969|PMID:20236121 IAGP H fukutin related protein gene taxon:9606 20170119 RGD RGD 1314133 FKRP HP:0000252 MIM:236670|MIM:606612|ORPHA:370959|ORPHA:370968|ORPHA:370980|ORPHA:899|PMID:15637732|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0000252 RGD:1358626|PMID:14652796 IAGP H fukutin related protein gene taxon:9606 20200805 RGD RGD 1314133 FKRP HP:0000256 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000294 MIM:613153|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0000298 MIM:236670|PMID:15037715|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0000301 PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673|RGD:8554872 IAGP RGD:8596360 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000301 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000306 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000340 MIM:236670|PMID:15637732|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0000347 MIM:236670|PMID:15637732|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0000347 PMID:25741868|PMID:28492532|PMID:33077954|RGD:8554872 IAGP RGD:151797319 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000358 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000369 MIM:236670|ORPHA:899|PMID:15637732|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0000411 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000413 MIM:236670|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000478 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000482 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000485 MIM:236670|ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0000486 ORPHA:370959|ORPHA:370968|ORPHA:588|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0000486 PMID:25741868|PMID:28492532|PMID:33077954|RGD:8554872 IAGP RGD:151797319 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000496 PMID:25741868|PMID:28492532|PMID:33077954|RGD:8554872 IAGP RGD:151797319 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000496 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000501 MIM:236670|ORPHA:588|ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0000505 ORPHA:588|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000505 PMID:14647208|PMID:16344347|PMID:17952692|PMID:25741868|PMID:28492532|PMID:28688748|PMID:29382405|PMID:31638414|PMID:32115343|PMID:32153140|PMID:32342672|PMID:32429923|PMID:35239206|RGD:8554872 IAGP RGD:9692933 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000508 PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673|RGD:8554872 IAGP RGD:8596360 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000508 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000518 MIM:236670|MIM:613153|ORPHA:370959|ORPHA:588|ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0000520 PMID:25741868|PMID:28492532|PMID:33077954|RGD:8554872 IAGP RGD:151797319 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000525 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000528 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000541 MIM:236670|MIM:613153|ORPHA:370959|ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0000545 MIM:236670|MIM:613153|ORPHA:370959|ORPHA:370968|ORPHA:588|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0000545 PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673|RGD:8554872 IAGP RGD:8596360 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000556 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000557 MIM:236670|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000568 MIM:236670|MIM:613153|ORPHA:370959|ORPHA:899|PMID:15037715|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0000580 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000587 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000589 MIM:236670|MIM:613153|ORPHA:370959|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0000609 MIM:236670|ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0000612 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000618 MIM:236670|ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0000639 PMID:14647208|PMID:16344347|PMID:17952692|PMID:25741868|PMID:28492532|PMID:28688748|PMID:29382405|PMID:31638414|PMID:32115343|PMID:32153140|PMID:32342672|PMID:32429923|PMID:35239206|RGD:8554872 IAGP RGD:9692933 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000648 MIM:236670|ORPHA:370959|ORPHA:588|ORPHA:899|PMID:15637732|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0000659 MIM:236670|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000707 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0000736 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000739 PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673|RGD:8554872 IAGP RGD:8596360 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000836 PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673|RGD:8554872 IAGP RGD:8596360 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000929 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0000966 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001105 MIM:236670|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001107 PMID:14647208|PMID:16344347|PMID:17952692|PMID:25741868|PMID:28492532|PMID:28688748|PMID:29382405|PMID:31638414|PMID:32115343|PMID:32153140|PMID:32342672|PMID:32429923|PMID:35239206|RGD:8554872 IAGP RGD:9692933 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001249 MIM:606612|ORPHA:370968|ORPHA:370980|ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0001249 PMID:25741868|PMID:28492532|PMID:33077954|RGD:8554872 IAGP RGD:151797319 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001250 MIM:236670|ORPHA:370959|ORPHA:588|ORPHA:899|PMID:15637732|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0001250 PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:28569743|RGD:8554872 IAGP RGD:8659564 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001252 MIM:236670|MIM:606612|ORPHA:588|ORPHA:899|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0001256 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001262 MIM:236670|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001263 MIM:236670|ORPHA:370959|ORPHA:370968|ORPHA:899|PMID:15037715|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0001263 PMID:14647208|PMID:16344347|PMID:17952692|PMID:25741868|PMID:28492532|PMID:28688748|PMID:29382405|PMID:31638414|PMID:32115343|PMID:32153140|PMID:32342672|PMID:32429923|PMID:35239206|RGD:8554872 IAGP RGD:9692933 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001263 PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:28569743|RGD:8554872 IAGP RGD:8659564 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001263 PMID:25741868|PMID:28492532|PMID:33077954|RGD:8554872 IAGP RGD:151797319 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001265 MIM:613153|ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0001270 MIM:606612|MIM:613153|ORPHA:34515|ORPHA:370968|ORPHA:370980|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0001272 MIM:606612|ORPHA:370980|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0001274 MIM:236670|MIM:613153|ORPHA:370959|ORPHA:899|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0001276 ORPHA:588|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001276 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001284 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001288 MIM:606612|MIM:607155|ORPHA:370980|ORPHA:588|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0001290 ORPHA:34515|ORPHA:370980|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0001290 PMID:14647208|PMID:16344347|PMID:17952692|PMID:25741868|PMID:28492532|PMID:28688748|PMID:29382405|PMID:31638414|PMID:32115343|PMID:32153140|PMID:32342672|PMID:32429923|PMID:35239206|RGD:8554872 IAGP RGD:9692933 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001290 PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:28569743|RGD:8554872 IAGP RGD:8659564 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001290 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001302 MIM:236670|MIM:606612|MIM:613153|ORPHA:370980|ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0001305 MIM:236670|MIM:613153|ORPHA:899|PMID:15121789|PMID:15637732|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0001315 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001317 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001319 MIM:236670|MIM:606612|ORPHA:370980|PMID:15037715|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0001319 PMID:25741868|PMID:28492532|PMID:33077954|RGD:8554872 IAGP RGD:151797319 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001320 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001321 MIM:236670|MIM:613153|ORPHA:370959|ORPHA:370968|ORPHA:899|PMID:15037715|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0001324 MIM:606612|ORPHA:899|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0001328 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001331 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001339 MIM:613153|ORPHA:899|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0001344 MIM:236670|PMID:15037715|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0001347 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001349 ORPHA:370980|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001360 ORPHA:588|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001371 RGD:1358626|PMID:14652796 IAGP H fukutin related protein gene taxon:9606 20200805 RGD RGD 1314133 FKRP HP:0001382 PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673|RGD:8554872 IAGP RGD:8596360 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001382 PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:28569743|RGD:8554872 IAGP RGD:8659564 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001460 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001511 PMID:25741868|PMID:28492532|PMID:33077954|RGD:8554872 IAGP RGD:151797319 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001560 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001595 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001608 ORPHA:588|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001638 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001638 PMID:11741828|PMID:16344347|PMID:16717227|PMID:17994539|PMID:18832576|PMID:22451200|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28482373|PMID:28492532|PMID:28688748|PMID:32403337|PMID:34426522|PMID:37154180|PMID:39408683|RGD:8554872 IAGP RGD:8659563 H fukutin related protein gene taxon:9606 20260707 ClinVar RGD 1314133 FKRP HP:0001638 PMID:14647208|PMID:16344347|PMID:17952692|PMID:25741868|PMID:28492532|PMID:28688748|PMID:29382405|PMID:31638414|PMID:32115343|PMID:32153140|PMID:32342672|PMID:32429923|PMID:35239206|RGD:8554872 IAGP RGD:9692933 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0001639 PMID:11741828|PMID:16344347|PMID:16717227|PMID:17994539|PMID:18832576|PMID:22451200|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28482373|PMID:28492532|PMID:28688748|PMID:32403337|PMID:34426522|PMID:37154180|PMID:39408683|RGD:8554872 IAGP RGD:8659563 H fukutin related protein gene taxon:9606 20260707 ClinVar RGD 1314133 FKRP HP:0001644 MIM:607155|ORPHA:34515|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0001712 MIM:613153|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0001771 MIM:606612|MIM:607155|ORPHA:370980|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0001999 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0002015 MIM:606612|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0002023 MIM:236670|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002027 PMID:14523375|PMID:25741868|PMID:27439679|PMID:28492532|PMID:30003095|PMID:33200426|RGD:8554872 IAGP RGD:8596355 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0002079 MIM:236670|ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0002085 MIM:236670|ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0002091 MIM:606612|MIM:607155|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0002093 MIM:613153|ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0002099 PMID:28492532|RGD:8554872 IAGP RGD:14725911 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0002119 MIM:236670|MIM:606612|MIM:613153|ORPHA:370959|ORPHA:370968|ORPHA:370980|ORPHA:899|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0002120 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002126 MIM:236670|ORPHA:370959|ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0002140 PMID:14647208|PMID:16344347|PMID:17952692|PMID:25741868|PMID:28492532|PMID:28688748|PMID:29382405|PMID:31638414|PMID:32115343|PMID:32153140|PMID:32342672|PMID:32429923|PMID:35239206|RGD:8554872 IAGP RGD:9692933 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0002167 ORPHA:588|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002169 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002187 MIM:236670|MIM:613153|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20260209 HPO RGD 1314133 FKRP HP:0002194 MIM:606612|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002198 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002269 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002273 PMID:14647208|PMID:16344347|PMID:17952692|PMID:25741868|PMID:28492532|PMID:28688748|PMID:29382405|PMID:31638414|PMID:32115343|PMID:32153140|PMID:32342672|PMID:32429923|PMID:35239206|RGD:8554872 IAGP RGD:9692933 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0002282 ORPHA:370959|ORPHA:370980|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0002334 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002335 MIM:613153|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0002342 PMID:25741868|PMID:28492532|PMID:33077954|RGD:8554872 IAGP RGD:151797319 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0002350 MIM:606612|MIM:613153|ORPHA:370959|ORPHA:370980|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0002350 RGD:1358626|PMID:14652796 IAGP H fukutin related protein gene taxon:9606 20200805 RGD RGD 1314133 FKRP HP:0002353 ORPHA:588|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002354 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0002354 PMID:28492532|RGD:8554872 IAGP RGD:14725911 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0002359 MIM:606612|MIM:607155|ORPHA:34515|ORPHA:370980|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0002363 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002365 MIM:236670|MIM:613153|ORPHA:370959|PMID:15037715|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0002373 PMID:25741868|PMID:28492532|PMID:33077954|RGD:8554872 IAGP RGD:151797319 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0002421 MIM:613153|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0002435 ORPHA:588|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002465 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002500 MIM:606612|MIM:613153|ORPHA:370980|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0002505 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002515 MIM:607155|ORPHA:34515|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0002518 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002536 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002650 MIM:606612|MIM:607155|ORPHA:34515|ORPHA:370968|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0002650 PMID:14523375|PMID:25741868|PMID:27439679|PMID:28492532|PMID:30003095|PMID:33200426|RGD:8554872 IAGP RGD:8596355 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0002751 ORPHA:370980|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002803 MIM:236670|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002808 MIM:606612|MIM:607155|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0002827 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002828 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002877 MIM:607155|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002878 MIM:606612|ORPHA:370968|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0002938 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0002948 MIM:606612|MIM:607155|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0002960 PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673|RGD:8554872 IAGP RGD:8596360 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0003011 PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673|RGD:8554872 IAGP RGD:8596360 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0003011 PMID:20623375|PMID:25741868|PMID:27671536|PMID:28492532|PMID:33051673|RGD:8554872 IAGP RGD:151348854 H fukutin related protein gene taxon:9606 20240312 ClinVar RGD 1314133 FKRP HP:0003011 PMID:25741868|PMID:28492532|PMID:37516995|PMID:38374194|PMID:41315541|RGD:8554872 IAGP RGD:151349212 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0003011 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151349359 H fukutin related protein gene taxon:9606 20220420 ClinVar RGD 1314133 FKRP HP:0003011 PMID:25741868|PMID:28688748|PMID:33200426|RGD:8554872 IAGP RGD:13207687 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0003115 PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673|RGD:8554872 IAGP RGD:8596360 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0003124 PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673|RGD:8554872 IAGP RGD:8596360 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0003198 ORPHA:588|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0003198 PMID:14523375|PMID:25741868|PMID:27439679|PMID:28492532|PMID:30003095|PMID:33200426|RGD:8554872 IAGP RGD:8596355 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0003198 PMID:14647208|PMID:16344347|PMID:17952692|PMID:25741868|PMID:28492532|PMID:28688748|PMID:29382405|PMID:31638414|PMID:32115343|PMID:32153140|PMID:32342672|PMID:32429923|PMID:35239206|RGD:8554872 IAGP RGD:9692933 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0003202 MIM:606612|ORPHA:899|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0003236 MIM:236670|MIM:606612|MIM:607155|MIM:613153|ORPHA:34515|ORPHA:370959|ORPHA:370968|ORPHA:588|PMID:11592034|PMID:15037715|PMID:15121789|PMID:15637732|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0003236 RGD:1358626|PMID:14652796 IAGP H fukutin related protein gene taxon:9606 20200805 RGD RGD 1314133 FKRP HP:0003307 MIM:606612|MIM:607155|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0003324 MIM:606612|ORPHA:370980|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0003325 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0003326 MIM:606612|MIM:607155|ORPHA:370980|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0003327 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0003394 MIM:606612|MIM:607155|ORPHA:370980|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0003457 ORPHA:588|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0003458 MIM:606612|ORPHA:370980|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0003547 MIM:606612|MIM:607155|ORPHA:34515|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0003549 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0003551 MIM:606612|MIM:607155|ORPHA:34515|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0003560 MIM:236670|MIM:606612|MIM:607155|MIM:613153|ORPHA:34515|ORPHA:370959|ORPHA:370980|ORPHA:899|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0003560 PMID:17336067|PMID:25741868|PMID:28492532|PMID:29065428|PMID:31041397|PMID:31671740|PMID:31931849|PMID:34653404|RGD:8554872 IAGP RGD:8596362 H fukutin related protein gene taxon:9606 20260707 ClinVar RGD 1314133 FKRP HP:0003577 MIM:236670|MIM:606612|MIM:613153|PMID:11592034|PMID:15121789|PMID:15637732|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0003623 MIM:606612|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0003701 MIM:606612|MIM:607155|ORPHA:34515|ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0003707 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0003712 ORPHA:370959|ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0003724 MIM:606612|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0003733 MIM:606612|MIM:607155|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0003749 MIM:607155|ORPHA:34515|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0003797 ORPHA:370980|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0003819 MIM:613153|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0003828 MIM:607155|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0004322 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0004374 ORPHA:588|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0004637 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0005109 ORPHA:34515|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0005162 MIM:607155|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0005978 PMID:28492532|RGD:8554872 IAGP RGD:14725911 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0006785 RGD:8554872 IAGP RGD:156436098 H fukutin related protein gene taxon:9606 20230307 ClinVar RGD 1314133 FKRP HP:0006817 RGD:1358626|PMID:14652796 IAGP H fukutin related protein gene taxon:9606 20200805 RGD RGD 1314133 FKRP HP:0006829 MIM:236670|MIM:613153|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0006888 MIM:236670|PMID:15037715|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0006899 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0006955 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0007015 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0007033 MIM:236670|MIM:613153|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0007126 MIM:606612|ORPHA:370980|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0007204 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0007256 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0007260 MIM:236670|MIM:613153|ORPHA:370959|PMID:12369018|PMID:15037715|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0007291 MIM:236670|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0007360 ORPHA:588|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0007361 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0007731 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0007957 MIM:236670|MIM:613153|ORPHA:899|PMID:15037715|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0007973 MIM:236670|ORPHA:899|PMID:15637732|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0008180 ORPHA:370980|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0008305 MIM:607155|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0008443 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0008551 MIM:236670|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0008736 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0008872 MIM:236670|PMID:15637732|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0008942 PMID:12666124|PMID:16634037|PMID:25741868|PMID:28492532|PMID:28688748|RGD:8554872 IAGP RGD:13468717 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0008947 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0008981 MIM:606612|MIM:607155|ORPHA:34515|ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0009046 ORPHA:34515|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0009127 PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673|RGD:8554872 IAGP RGD:8596360 H fukutin related protein gene taxon:9606 20260707 ClinVar RGD 1314133 FKRP HP:0009879 MIM:613153|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0010508 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0010628 MIM:606612|ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0010864 MIM:236670|ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20260209 HPO RGD 1314133 FKRP HP:0011443 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0011443 PMID:28492532|RGD:8554872 IAGP RGD:14725911 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0011804 PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673|RGD:8554872 IAGP RGD:8596360 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0011804 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0011804 PMID:28492532|RGD:8554872 IAGP RGD:14725911 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0011805 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0011968 MIM:606612|MIM:613153|ORPHA:370968|PMID:11592034|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0011968 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0012110 MIM:613153|ORPHA:370959|PMID:15121789|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0012400 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0012443 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0012548 ORPHA:370980|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0012647 PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673|RGD:8554872 IAGP RGD:8596360 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0012695 ORPHA:370959|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0012793 MIM:236670|PMID:15637732|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0030046 ORPHA:370959|ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0030051 MIM:606612|MIM:607155|ORPHA:370980|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0030092 ORPHA:34515|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0030099 ORPHA:34515|ORPHA:370959|ORPHA:370968|ORPHA:370980|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250416 HPO RGD 1314133 FKRP HP:0030197 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0030319 MIM:606612|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0031882 MIM:236670|MIM:613153|PMID:15121789|PMID:15637732|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0032341 MIM:607155|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0034391 MIM:606612|PMID:11592034|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20250912 HPO RGD 1314133 FKRP HP:0040081 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0040081 RGD:11063285|PMID:17994539 IAGP H fukutin related protein gene taxon:9606 20170119 RGD RGD 1314133 FKRP HP:0040173 ORPHA:370968|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0045040 ORPHA:899|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0100022 ORPHA:588|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0100543 ORPHA:588|RGD:8699517 IAGP H fukutin related protein gene taxon:9606 20230821 HPO RGD 1314133 FKRP HP:0100543 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0200136 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0410009 PMID:12666124|PMID:15060126|PMID:15121789|PMID:16476814|PMID:16634037|PMID:18639457|PMID:19155270|PMID:25741868|PMID:26923585|PMID:28492532|PMID:33051673|RGD:8554872 IAGP RGD:8596360 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314133 FKRP HP:0410009 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13499017 H fukutin related protein gene taxon:9606 20260519 ClinVar RGD 1314135 SH3BGRL2 HP:0004808 RGD:8554872 IAGP RGD:713723474 H SH3 domain binding glutamate rich protein like 2 gene taxon:9606 20260519 ClinVar RGD 1314135 SH3BGRL2 HP:0006725 RGD:8554872 IAGP RGD:713727627 H SH3 domain binding glutamate rich protein like 2 gene taxon:9606 20260519 ClinVar RGD 1314135 SH3BGRL2 HP:0012126 RGD:8554872 IAGP RGD:713568560 H SH3 domain binding glutamate rich protein like 2 gene taxon:9606 20260519 ClinVar RGD 1314135 SH3BGRL2 HP:0012126 RGD:8554872 IAGP RGD:713931200 H SH3 domain binding glutamate rich protein like 2 gene taxon:9606 20260519 ClinVar RGD 1314135 SH3BGRL2 HP:0100242 RGD:8554872 IAGP RGD:713479457 H SH3 domain binding glutamate rich protein like 2 gene taxon:9606 20260519 ClinVar RGD 1314135 SH3BGRL2 HP:0100522 RGD:8554872 IAGP RGD:713479477 H SH3 domain binding glutamate rich protein like 2 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:40814770 H dynein axonemal heavy chain 3 gene taxon:9606 20210323 ClinVar RGD 1314138 DNAH3 HP:0002861 RGD:8554872 IAGP RGD:714041416 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0002861 RGD:8554872 IAGP RGD:714041500 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0002861 RGD:8554872 IAGP RGD:714041511 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0002861 RGD:8554872 IAGP RGD:714041589 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0004808 RGD:8554872 IAGP RGD:713630822 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0004808 RGD:8554872 IAGP RGD:713630828 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0006770 RGD:8554872 IAGP RGD:714041709 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0012125 RGD:8554872 IAGP RGD:9687023 H dynein axonemal heavy chain 3 gene taxon:9606 20250708 ClinVar RGD 1314138 DNAH3 HP:0012126 RGD:8554872 IAGP RGD:713961714 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0012206 PMID:32017041|RGD:8554872 IAGP RGD:155903203 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0012206 PMID:32017041|RGD:8554872 IAGP RGD:329361436 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0012206 PMID:32017041|RGD:8554872 IAGP RGD:401924364 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0012206 PMID:32017041|RGD:8554872 IAGP RGD:401924367 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0012206 PMID:32017041|RGD:8554872 IAGP RGD:401924368 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0012206 PMID:32017041|RGD:8554872 IAGP RGD:401924370 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0012864 PMID:32017041|RGD:8554872 IAGP RGD:155903203 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0012864 PMID:32017041|RGD:8554872 IAGP RGD:329361436 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0012864 PMID:32017041|RGD:8554872 IAGP RGD:401924364 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0012864 PMID:32017041|RGD:8554872 IAGP RGD:401924367 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0012864 PMID:32017041|RGD:8554872 IAGP RGD:401924368 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0012864 PMID:32017041|RGD:8554872 IAGP RGD:401924370 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0030153 RGD:8554872 IAGP RGD:714041518 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0100242 RGD:8554872 IAGP RGD:714041662 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314138 DNAH3 HP:0100526 RGD:8554872 IAGP RGD:714041562 H dynein axonemal heavy chain 3 gene taxon:9606 20260519 ClinVar RGD 1314139 TPSD1 HP:0006770 RGD:8554872 IAGP RGD:714034164 H tryptase delta 1 gene taxon:9606 20260519 ClinVar RGD 1314139 TPSD1 HP:0100522 RGD:8554872 IAGP RGD:714034152 H tryptase delta 1 gene taxon:9606 20260519 ClinVar RGD 1314139 TPSD1 HP:0100526 RGD:8554872 IAGP RGD:713961051 H tryptase delta 1 gene taxon:9606 20260519 ClinVar RGD 1314141 CDC42EP3 HP:0002665 RGD:8554872 IAGP RGD:713773087 H CDC42 effector protein 3 gene taxon:9606 20260519 ClinVar RGD 1314141 CDC42EP3 HP:0002665 RGD:8554872 IAGP RGD:713941335 H CDC42 effector protein 3 gene taxon:9606 20260519 ClinVar RGD 1314141 CDC42EP3 HP:0006770 RGD:8554872 IAGP RGD:713517032 H CDC42 effector protein 3 gene taxon:9606 20260519 ClinVar RGD 1314141 CDC42EP3 HP:0012126 RGD:8554872 IAGP RGD:713517032 H CDC42 effector protein 3 gene taxon:9606 20260519 ClinVar RGD 1314141 CDC42EP3 HP:0030153 RGD:8554872 IAGP RGD:713517032 H CDC42 effector protein 3 gene taxon:9606 20260519 ClinVar RGD 1314141 CDC42EP3 HP:0100242 RGD:8554872 IAGP RGD:713773061 H CDC42 effector protein 3 gene taxon:9606 20260519 ClinVar RGD 1314141 CDC42EP3 HP:0100526 RGD:8554872 IAGP RGD:713517032 H CDC42 effector protein 3 gene taxon:9606 20260519 ClinVar RGD 1314143 ELF5 HP:0001402 RGD:8554872 IAGP RGD:714091963 H E74 like ETS transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1314143 ELF5 HP:0012126 RGD:8554872 IAGP RGD:714018679 H E74 like ETS transcription factor 5 gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0000006 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0000076 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0000252 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0000505 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0000556 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0000639 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0000648 PMID:25741868|PMID:28135719|PMID:37421948|RGD:8554872 IAGP RGD:401829858 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314147 TMEM63B HP:0000729 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:617152018 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0000952 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001082 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001249 RGD:8554872 IAGP RGD:152977982 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0001250 PMID:25741868|PMID:28135719|PMID:37421948|RGD:8554872 IAGP RGD:401829858 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314147 TMEM63B HP:0001250 RGD:8554872 IAGP RGD:152977982 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0001251 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001252 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001260 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001263 PMID:25741868|PMID:28135719|PMID:37421948|RGD:8554872 IAGP RGD:401829858 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314147 TMEM63B HP:0001263 RGD:8554872 IAGP RGD:152977982 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0001270 PMID:25741868|PMID:28135719|PMID:37421948|RGD:8554872 IAGP RGD:401829858 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314147 TMEM63B HP:0001272 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001290 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001337 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001347 PMID:25741868|PMID:28135719|PMID:37421948|RGD:8554872 IAGP RGD:401829858 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314147 TMEM63B HP:0001357 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001371 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001402 RGD:8554872 IAGP RGD:713565619 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0001402 RGD:8554872 IAGP RGD:714081340 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0001402 RGD:8554872 IAGP RGD:714158752 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314147 TMEM63B HP:0001433 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001596 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001601 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001873 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001903 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001915 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001923 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0001972 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002015 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002066 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002069 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002092 PMID:25741868|RGD:8554872 IAGP RGD:617152018 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0002120 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002133 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002188 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002200 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002206 PMID:25741868|RGD:8554872 IAGP RGD:617152018 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0002273 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002353 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002373 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002384 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002451 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002521 PMID:25741868|PMID:28135719|PMID:37421948|RGD:8554872 IAGP RGD:401829858 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314147 TMEM63B HP:0002665 RGD:8554872 IAGP RGD:714093206 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0002754 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002783 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002878 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002878 PMID:25741868|RGD:8554872 IAGP RGD:617152018 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0002904 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0002904 PMID:25741868|PMID:28135719|PMID:37421948|RGD:8554872 IAGP RGD:401829858 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314147 TMEM63B HP:0003577 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0003593 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0003623 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0004808 RGD:8554872 IAGP RGD:713718471 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0004808 RGD:8554872 IAGP RGD:713726442 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0004808 RGD:8554872 IAGP RGD:714158752 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314147 TMEM63B HP:0005502 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0006579 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0006725 RGD:8554872 IAGP RGD:714093153 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0006895 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0006956 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0007334 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0007359 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0007370 PMID:25741868|PMID:28135719|PMID:37421948|RGD:8554872 IAGP RGD:401829858 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314147 TMEM63B HP:0007716 RGD:8554872 IAGP RGD:713722555 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0010818 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0011097 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0011097 PMID:25741868|PMID:28135719|PMID:37421948|RGD:8554872 IAGP RGD:401829858 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314147 TMEM63B HP:0011220 PMID:25741868|PMID:28135719|PMID:37421948|RGD:8554872 IAGP RGD:401829858 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314147 TMEM63B HP:0011343 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0011344 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0011400 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0011463 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0011797 RGD:8554872 IAGP RGD:713722514 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0011797 RGD:8554872 IAGP RGD:713726467 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0012126 RGD:8554872 IAGP RGD:713565598 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0012126 RGD:8554872 IAGP RGD:713565664 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0012126 RGD:8554872 IAGP RGD:713718354 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0012126 RGD:8554872 IAGP RGD:714158752 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314147 TMEM63B HP:0012311 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0012448 PMID:25741868|PMID:28135719|PMID:37421948|RGD:8554872 IAGP RGD:401829858 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314147 TMEM63B HP:0012469 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0012510 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0012736 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0030048 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0032106 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0032794 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0033328 PMID:25741868|RGD:8554872 IAGP RGD:617152018 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0033725 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0034295 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0100242 RGD:8554872 IAGP RGD:714158752 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0100242 RGD:8554872 IAGP RGD:714158764 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314147 TMEM63B HP:0100522 RGD:8554872 IAGP RGD:714093213 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0100526 RGD:8554872 IAGP RGD:714093159 H transmembrane protein 63B gene taxon:9606 20260519 ClinVar RGD 1314147 TMEM63B HP:0100660 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0100704 MIM:621250|PMID:37421948|RGD:8699517 IAGP H transmembrane protein 63B gene taxon:9606 20260423 HPO RGD 1314147 TMEM63B HP:0200006 PMID:25741868|PMID:28135719|PMID:37421948|RGD:8554872 IAGP RGD:401829858 H transmembrane protein 63B gene taxon:9606 20260707 ClinVar RGD 1314150 STK32C HP:0007716 RGD:8554872 IAGP RGD:713793023 H serine/threonine kinase 32C gene taxon:9606 20260519 ClinVar RGD 1314150 STK32C HP:0100242 RGD:8554872 IAGP RGD:713374080 H serine/threonine kinase 32C gene taxon:9606 20260519 ClinVar RGD 1314150 STK32C HP:0100242 RGD:8554872 IAGP RGD:713738317 H serine/threonine kinase 32C gene taxon:9606 20260707 ClinVar RGD 1314150 STK32C HP:0100522 RGD:8554872 IAGP RGD:713374062 H serine/threonine kinase 32C gene taxon:9606 20260519 ClinVar RGD 1314150 STK32C HP:0100526 RGD:8554872 IAGP RGD:713373982 H serine/threonine kinase 32C gene taxon:9606 20260519 ClinVar RGD 1314152 ZNF451 HP:0004808 RGD:8554872 IAGP RGD:713719060 H zinc finger protein 451 gene taxon:9606 20260519 ClinVar RGD 1314152 ZNF451 HP:0004808 RGD:8554872 IAGP RGD:714158894 H zinc finger protein 451 gene taxon:9606 20260519 ClinVar RGD 1314152 ZNF451 HP:0006770 RGD:8554872 IAGP RGD:713470369 H zinc finger protein 451 gene taxon:9606 20260519 ClinVar RGD 1314152 ZNF451 HP:0006770 RGD:8554872 IAGP RGD:714158894 H zinc finger protein 451 gene taxon:9606 20260519 ClinVar RGD 1314152 ZNF451 HP:0100615 RGD:8554872 IAGP RGD:714158894 H zinc finger protein 451 gene taxon:9606 20260519 ClinVar RGD 1314155 SNPH HP:0004808 RGD:8554872 IAGP RGD:713839650 H syntaphilin gene taxon:9606 20260519 ClinVar RGD 1314155 SNPH HP:0012126 RGD:8554872 IAGP RGD:713773091 H syntaphilin gene taxon:9606 20260519 ClinVar RGD 1314155 SNPH HP:0012126 RGD:8554872 IAGP RGD:713773108 H syntaphilin gene taxon:9606 20260519 ClinVar RGD 1314155 SNPH HP:0100526 RGD:8554872 IAGP RGD:713694686 H syntaphilin gene taxon:9606 20260519 ClinVar RGD 1314157 ADGRF3 HP:0002665 RGD:8554872 IAGP RGD:713788681 H adhesion G protein-coupled receptor F3 gene taxon:9606 20260519 ClinVar RGD 1314157 ADGRF3 HP:0004808 RGD:8554872 IAGP RGD:713788681 H adhesion G protein-coupled receptor F3 gene taxon:9606 20260519 ClinVar RGD 1314157 ADGRF3 HP:0004808 RGD:8554872 IAGP RGD:713788697 H adhesion G protein-coupled receptor F3 gene taxon:9606 20260519 ClinVar RGD 1314157 ADGRF3 HP:0004808 RGD:8554872 IAGP RGD:713794053 H adhesion G protein-coupled receptor F3 gene taxon:9606 20260519 ClinVar RGD 1314157 ADGRF3 HP:0006770 RGD:8554872 IAGP RGD:713757553 H adhesion G protein-coupled receptor F3 gene taxon:9606 20260519 ClinVar RGD 1314157 ADGRF3 HP:0006770 RGD:8554872 IAGP RGD:713788681 H adhesion G protein-coupled receptor F3 gene taxon:9606 20260519 ClinVar RGD 1314157 ADGRF3 HP:0006770 RGD:8554872 IAGP RGD:714039820 H adhesion G protein-coupled receptor F3 gene taxon:9606 20260519 ClinVar RGD 1314157 ADGRF3 HP:0012126 RGD:8554872 IAGP RGD:713514196 H adhesion G protein-coupled receptor F3 gene taxon:9606 20260707 ClinVar RGD 1314157 ADGRF3 HP:0030153 RGD:8554872 IAGP RGD:713514196 H adhesion G protein-coupled receptor F3 gene taxon:9606 20260519 ClinVar RGD 1314157 ADGRF3 HP:0100522 RGD:8554872 IAGP RGD:713788681 H adhesion G protein-coupled receptor F3 gene taxon:9606 20260519 ClinVar RGD 1314157 ADGRF3 HP:0100615 RGD:8554872 IAGP RGD:713788681 H adhesion G protein-coupled receptor F3 gene taxon:9606 20260519 ClinVar RGD 1314160 PCDH18 HP:0002861 RGD:8554872 IAGP RGD:714233138 H protocadherin 18 gene taxon:9606 20260519 ClinVar RGD 1314160 PCDH18 HP:0006770 RGD:8554872 IAGP RGD:714233122 H protocadherin 18 gene taxon:9606 20260519 ClinVar RGD 1314160 PCDH18 HP:0012126 RGD:8554872 IAGP RGD:713945373 H protocadherin 18 gene taxon:9606 20260519 ClinVar RGD 1314160 PCDH18 HP:0012126 RGD:8554872 IAGP RGD:713945386 H protocadherin 18 gene taxon:9606 20260519 ClinVar RGD 1314160 PCDH18 HP:0100242 RGD:8554872 IAGP RGD:714233114 H protocadherin 18 gene taxon:9606 20260519 ClinVar RGD 1314164 NAALAD2 HP:0004808 RGD:8554872 IAGP RGD:714100279 H N-acetylated alpha-linked acidic dipeptidase 2 gene taxon:9606 20260519 ClinVar RGD 1314164 NAALAD2 HP:0004808 RGD:8554872 IAGP RGD:714100287 H N-acetylated alpha-linked acidic dipeptidase 2 gene taxon:9606 20260519 ClinVar RGD 1314164 NAALAD2 HP:0004808 RGD:8554872 IAGP RGD:714100298 H N-acetylated alpha-linked acidic dipeptidase 2 gene taxon:9606 20260519 ClinVar RGD 1314164 NAALAD2 HP:0100242 RGD:8554872 IAGP RGD:713424550 H N-acetylated alpha-linked acidic dipeptidase 2 gene taxon:9606 20260519 ClinVar RGD 1314164 NAALAD2 HP:0100526 RGD:8554872 IAGP RGD:713818576 H N-acetylated alpha-linked acidic dipeptidase 2 gene taxon:9606 20260519 ClinVar RGD 1314164 NAALAD2 HP:0100526 RGD:8554872 IAGP RGD:714028518 H N-acetylated alpha-linked acidic dipeptidase 2 gene taxon:9606 20260707 ClinVar RGD 1314166 RIN2 HP:0000007 MIM:613075|PMID:19631308|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0000028 MIM:613075|ORPHA:217335|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250416 HPO RGD 1314166 RIN2 HP:0000159 ORPHA:217335|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20230821 HPO RGD 1314166 RIN2 HP:0000212 MIM:613075|ORPHA:217335|PMID:19631308|PMID:20424861|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0000218 MIM:613075|ORPHA:217335|PMID:19631308|PMID:20424861|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0000256 MIM:613075|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0000280 MIM:613075|ORPHA:217335|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0000286 MIM:613075|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0000343 MIM:613075|ORPHA:217335|PMID:20424861|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0000347 MIM:613075|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0000348 MIM:613075|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0000431 MIM:613075|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0000494 MIM:613075|ORPHA:217335|PMID:19631308|PMID:20424861|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0000517 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13471591 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0000540 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13471591 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0000545 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13471591 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0000766 ORPHA:217335|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20230821 HPO RGD 1314166 RIN2 HP:0000767 MIM:613075|PMID:20424861|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0000815 MIM:613075|ORPHA:217335|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250416 HPO RGD 1314166 RIN2 HP:0000939 MIM:613075|PMID:19631308|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0000954 MIM:613075|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20230821 HPO RGD 1314166 RIN2 HP:0000973 MIM:613075|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20230821 HPO RGD 1314166 RIN2 HP:0000974 MIM:613075|ORPHA:217335|PMID:20424861|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0000977 MIM:613075|PMID:20424861|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0000978 MIM:613075|ORPHA:217335|PMID:20424861|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0001007 ORPHA:217335|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20230821 HPO RGD 1314166 RIN2 HP:0001156 MIM:613075|ORPHA:217335|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250416 HPO RGD 1314166 RIN2 HP:0001252 MIM:613075|PMID:20424861|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0001382 MIM:613075|ORPHA:217335|PMID:20424861|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0001402 RGD:8554872 IAGP RGD:713734739 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0001402 RGD:8554872 IAGP RGD:713734759 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0001537 MIM:613075|ORPHA:217335|PMID:19631308|PMID:20424861|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0001558 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13471591 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0001560 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13471591 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0001582 MIM:613075|ORPHA:217335|PMID:19631308|PMID:20424861|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0001596 MIM:613075|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20230821 HPO RGD 1314166 RIN2 HP:0001620 MIM:613075|ORPHA:217335|PMID:19631308|PMID:20424861|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0001622 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13471591 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0001763 MIM:613075|ORPHA:217335|PMID:20424861|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0002110 MIM:613075|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20230821 HPO RGD 1314166 RIN2 HP:0002209 ORPHA:217335|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20230821 HPO RGD 1314166 RIN2 HP:0002353 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13471591 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0002650 MIM:613075|ORPHA:217335|PMID:19631308|PMID:20424861|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0002659 ORPHA:217335|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20230821 HPO RGD 1314166 RIN2 HP:0002686 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13471591 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0002813 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13471591 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0003003 RGD:8554872 IAGP RGD:713698044 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0003010 MIM:613075|PMID:20424861|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0003124 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13471591 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0003593 MIM:613075|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0004322 MIM:613075|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20230821 HPO RGD 1314166 RIN2 HP:0004325 MIM:613075|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20230821 HPO RGD 1314166 RIN2 HP:0004942 MIM:613075|ORPHA:217335|PMID:19631308|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0006770 RGD:8554872 IAGP RGD:713698005 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0007204 MIM:613075|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0008064 MIM:613075|PMID:19631308|PMID:20424861|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0008070 MIM:613075|PMID:19631308|PMID:20424861|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0008209 ORPHA:217335|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20230821 HPO RGD 1314166 RIN2 HP:0008661 MIM:613075|PMID:19631308|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0010674 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13471591 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0011003 MIM:613075|ORPHA:217335|PMID:20424861|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0011107 MIM:613075|PMID:19631308|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0011232 ORPHA:217335|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20230821 HPO RGD 1314166 RIN2 HP:0011438 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13471591 H Ras and Rab interactor 2 gene taxon:9606 20260519 ClinVar RGD 1314166 RIN2 HP:0012378 MIM:613075|PMID:20424861|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0012471 MIM:613075|PMID:20424861|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0012472 MIM:613075|PMID:19631308|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0012520 MIM:613075|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0012724 ORPHA:217335|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20230821 HPO RGD 1314166 RIN2 HP:0040079 MIM:613075|ORPHA:217335|PMID:19631308|PMID:20424861|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0045075 MIM:613075|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0045075 PMID:25741868|RGD:8554872 IAGP RGD:13828718 H Ras and Rab interactor 2 gene taxon:9606 20260602 ClinVar RGD 1314166 RIN2 HP:0100540 MIM:613075|PMID:19631308|PMID:20424861|PMID:30769224|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20250912 HPO RGD 1314166 RIN2 HP:0100543 ORPHA:217335|RGD:8699517 IAGP H Ras and Rab interactor 2 gene taxon:9606 20230821 HPO RGD 1314168 HDAC10 HP:0001402 RGD:8554872 IAGP RGD:713373862 H histone deacetylase 10 gene taxon:9606 20260519 ClinVar RGD 1314168 HDAC10 HP:0002861 RGD:8554872 IAGP RGD:713767254 H histone deacetylase 10 gene taxon:9606 20260519 ClinVar RGD 1314168 HDAC10 HP:0002861 RGD:8554872 IAGP RGD:713767526 H histone deacetylase 10 gene taxon:9606 20260519 ClinVar RGD 1314168 HDAC10 HP:0004808 RGD:8554872 IAGP RGD:714197984 H histone deacetylase 10 gene taxon:9606 20260519 ClinVar RGD 1314168 HDAC10 HP:0012126 RGD:8554872 IAGP RGD:713605789 H histone deacetylase 10 gene taxon:9606 20260519 ClinVar RGD 1314168 HDAC10 HP:0012126 RGD:8554872 IAGP RGD:714190855 H histone deacetylase 10 gene taxon:9606 20260519 ClinVar RGD 1314168 HDAC10 HP:0100242 RGD:8554872 IAGP RGD:713767434 H histone deacetylase 10 gene taxon:9606 20260519 ClinVar RGD 1314168 HDAC10 HP:0100522 RGD:8554872 IAGP RGD:713767320 H histone deacetylase 10 gene taxon:9606 20260519 ClinVar RGD 1314168 HDAC10 HP:0100522 RGD:8554872 IAGP RGD:713767588 H histone deacetylase 10 gene taxon:9606 20260519 ClinVar RGD 1314168 HDAC10 HP:0100526 RGD:8554872 IAGP RGD:713767544 H histone deacetylase 10 gene taxon:9606 20260519 ClinVar RGD 1314170 SIRT7 HP:0012126 RGD:8554872 IAGP RGD:714268142 H sirtuin 7 gene taxon:9606 20260519 ClinVar RGD 1314170 SIRT7 HP:0100526 RGD:8554872 IAGP RGD:713401235 H sirtuin 7 gene taxon:9606 20260519 ClinVar RGD 1314170 SIRT7 HP:0100526 RGD:8554872 IAGP RGD:714268148 H sirtuin 7 gene taxon:9606 20260707 ClinVar RGD 1314172 GNS HP:0000007 MIM:252940|PMID:12573255|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20260209 HPO RGD 1314172 GNS HP:0000023 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000154 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000158 MIM:252940|PMID:12624138|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000179 MIM:252940|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20230821 HPO RGD 1314172 GNS HP:0000187 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000256 MIM:252940|PMID:12624138|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000280 MIM:252940|PMID:12624138|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20260209 HPO RGD 1314172 GNS HP:0000316 MIM:252940|PMID:12624138|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000365 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20251023 HPO RGD 1314172 GNS HP:0000369 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000403 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000463 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000470 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20260209 HPO RGD 1314172 GNS HP:0000490 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000505 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000574 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000662 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000664 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20260209 HPO RGD 1314172 GNS HP:0000711 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000713 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000718 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000750 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20260209 HPO RGD 1314172 GNS HP:0000752 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0000900 MIM:252940|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20230821 HPO RGD 1314172 GNS HP:0000943 MIM:252940|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20230821 HPO RGD 1314172 GNS HP:0001007 MIM:252940|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20230821 HPO RGD 1314172 GNS HP:0001169 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0001249 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20260209 HPO RGD 1314172 GNS HP:0001250 MIM:252940|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20230821 HPO RGD 1314172 GNS HP:0001260 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0001263 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20260209 HPO RGD 1314172 GNS HP:0001272 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0001288 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0001344 MIM:252940|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20230821 HPO RGD 1314172 GNS HP:0001348 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0001385 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0001387 MIM:252940|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20230821 HPO RGD 1314172 GNS HP:0001507 MIM:252940|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20230821 HPO RGD 1314172 GNS HP:0001653 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0001670 MIM:252940|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20230821 HPO RGD 1314172 GNS HP:0001744 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0001761 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0001771 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0002007 MIM:252940|PMID:12624138|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0002014 MIM:252940|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20230821 HPO RGD 1314172 GNS HP:0002015 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0002159 MIM:252940|PMID:12624138|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0002208 MIM:252940|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20230821 HPO RGD 1314172 GNS HP:0002240 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0002307 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0002360 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20260209 HPO RGD 1314172 GNS HP:0002656 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20260209 HPO RGD 1314172 GNS HP:0002788 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0002943 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0002987 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0003309 MIM:252940|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20230821 HPO RGD 1314172 GNS HP:0003593 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0003653 MIM:252940|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20230821 HPO RGD 1314172 GNS HP:0003676 MIM:252940|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20230821 HPO RGD 1314172 GNS HP:0004322 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0004808 RGD:8554872 IAGP RGD:714049349 H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20260519 ClinVar RGD 1314172 GNS HP:0005280 MIM:252940|PMID:12624138|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20260209 HPO RGD 1314172 GNS HP:0008479 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0009937 MIM:252940|PMID:12624138|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0010769 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0010865 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0011220 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0011463 MIM:252940|PMID:12624138|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0011797 RGD:8554872 IAGP RGD:713653314 H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20260519 ClinVar RGD 1314172 GNS HP:0012471 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0031354 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0031849 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0033454 MIM:252940|PMID:17998446|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250912 HPO RGD 1314172 GNS HP:0100242 RGD:8554872 IAGP RGD:11625142 H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20260519 ClinVar RGD 1314172 GNS HP:0100522 RGD:8554872 IAGP RGD:713653334 H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20260519 ClinVar RGD 1314172 GNS HP:4000198 MIM:252940|RGD:8699517 IAGP H glucosamine (N-acetyl)-6-sulfatase gene taxon:9606 20250508 HPO RGD 1314174 CLDN12 HP:0011797 RGD:8554872 IAGP RGD:713599997 H claudin 12 gene taxon:9606 20260519 ClinVar RGD 1314174 CLDN12 HP:0100522 RGD:8554872 IAGP RGD:713654326 H claudin 12 gene taxon:9606 20260519 ClinVar RGD 1314176 CARM1 HP:0002144 PMID:25741868|RGD:8554872 IAGP RGD:41406877 H coactivator associated arginine methyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1314176 CARM1 HP:0004808 RGD:8554872 IAGP RGD:714192071 H coactivator associated arginine methyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1314176 CARM1 HP:0007716 RGD:8554872 IAGP RGD:713795231 H coactivator associated arginine methyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1314176 CARM1 HP:0030359 RGD:8554872 IAGP RGD:713769971 H coactivator associated arginine methyltransferase 1 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0001402 RGD:8554872 IAGP RGD:713512359 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0001402 RGD:8554872 IAGP RGD:714087939 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0001402 RGD:8554872 IAGP RGD:714087948 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0001402 RGD:8554872 IAGP RGD:714087957 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0002665 RGD:8554872 IAGP RGD:713512359 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0002861 RGD:8554872 IAGP RGD:713512359 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0002861 RGD:8554872 IAGP RGD:713553629 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0004808 RGD:8554872 IAGP RGD:713506970 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0004808 RGD:8554872 IAGP RGD:713512359 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0004808 RGD:8554872 IAGP RGD:714256848 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0004808 RGD:8554872 IAGP RGD:714256853 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0004808 RGD:8554872 IAGP RGD:714256861 H G protein-coupled receptor 107 gene taxon:9606 20260707 ClinVar RGD 1314180 GPR107 HP:0006770 RGD:8554872 IAGP RGD:713512359 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0006770 RGD:8554872 IAGP RGD:713719732 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0012126 RGD:8554872 IAGP RGD:713512359 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0012126 RGD:8554872 IAGP RGD:713719750 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0030153 RGD:8554872 IAGP RGD:713506970 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0030153 RGD:8554872 IAGP RGD:713512359 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0100242 RGD:8554872 IAGP RGD:713512359 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0100242 RGD:8554872 IAGP RGD:713553601 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0100242 RGD:8554872 IAGP RGD:714256861 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0100522 RGD:8554872 IAGP RGD:713506970 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0100522 RGD:8554872 IAGP RGD:713512359 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0100526 RGD:8554872 IAGP RGD:713506970 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0100526 RGD:8554872 IAGP RGD:713512359 H G protein-coupled receptor 107 gene taxon:9606 20260519 ClinVar RGD 1314180 GPR107 HP:0100526 RGD:8554872 IAGP RGD:714256861 H G protein-coupled receptor 107 gene taxon:9606 20260707 ClinVar RGD 1314183 MED13L HP:0000006 MIM:616789|PMID:25758992|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20260209 HPO RGD 1314183 MED13L HP:0000023 PMID:25741868|RGD:8554872 IAGP RGD:408395113 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000028 MIM:616789|ORPHA:369891|PMID:25758992|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0000028 RGD:8554872 IAGP RGD:714062947 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000054 RGD:8554872 IAGP RGD:151233766 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000076 RGD:8554872 IAGP RGD:714062947 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000079 PMID:25741868|RGD:8554872 IAGP RGD:40887532 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000079 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000098 PMID:25741868|RGD:8554872 IAGP RGD:243050503 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000098 RGD:8554872 IAGP RGD:11039858 H mediator complex subunit 13L gene taxon:9606 20260602 ClinVar RGD 1314183 MED13L HP:0000098 RGD:8554872 IAGP RGD:405854019 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000118 RGD:8554872 IAGP RGD:40887736 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000126 PMID:25741868|RGD:8554872 IAGP RGD:40887532 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000126 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000153 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000154 MIM:616789|ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250416 HPO RGD 1314183 MED13L HP:0000154 PMID:25741868|RGD:8554872 IAGP RGD:329954427 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000158 MIM:616789|ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250416 HPO RGD 1314183 MED13L HP:0000163 RGD:8554872 IAGP RGD:11039858 H mediator complex subunit 13L gene taxon:9606 20260602 ClinVar RGD 1314183 MED13L HP:0000179 PMID:25741868|RGD:8554872 IAGP RGD:14702752 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000194 MIM:616789|ORPHA:369891|PMID:25758992|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0000215 PMID:25741868|RGD:8554872 IAGP RGD:14702752 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000215 PMID:25741868|RGD:8554872 IAGP RGD:150557008 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000218 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000218 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000219 PMID:25741868|RGD:8554872 IAGP RGD:401917961 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000232 MIM:616789|PMID:25167861|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0000248 MIM:616789|ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250416 HPO RGD 1314183 MED13L HP:0000248 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000252 PMID:25741868|PMID:28492532|PMID:28554332|PMID:29511999|PMID:31785789|PMID:36798993|RGD:8554872 IAGP RGD:11051335 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:243050503 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:40887532 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:596928439 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000252 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000256 PMID:25741868|RGD:8554872 IAGP RGD:150557008 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000256 PMID:25741868|RGD:8554872 IAGP RGD:714283794 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000256 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000256 RGD:8554872 IAGP RGD:40887742 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000276 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000278 PMID:25741868|RGD:8554872 IAGP RGD:401917961 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000280 PMID:25741868|RGD:8554872 IAGP RGD:14702752 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000283 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000286 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000286 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000286 PMID:25741868|RGD:8554872 IAGP RGD:14702752 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000294 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000303 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000303 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000311 MIM:616789|ORPHA:369891|PMID:25167861|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0000316 MIM:616789|ORPHA:369891|PMID:25167861|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0000316 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000316 PMID:25741868|RGD:8554872 IAGP RGD:150534707 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000319 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000322 PMID:25741868|RGD:8554872 IAGP RGD:150557008 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000322 PMID:25741868|RGD:8554872 IAGP RGD:401917961 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000322 PMID:25741868|RGD:8554872 IAGP RGD:408394388 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000325 MIM:616789|ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250416 HPO RGD 1314183 MED13L HP:0000331 PMID:25741868|RGD:8554872 IAGP RGD:401917961 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000337 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20260209 HPO RGD 1314183 MED13L HP:0000341 MIM:616789|ORPHA:369891|PMID:25758992|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0000341 PMID:25741868|RGD:8554872 IAGP RGD:150557008 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000341 PMID:25741868|RGD:8554872 IAGP RGD:151348300 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000364 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000365 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000365 PMID:25741868|RGD:8554872 IAGP RGD:150534707 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000365 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000369 MIM:616789|ORPHA:369891|PMID:25167861|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0000369 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000369 PMID:25741868|RGD:8554872 IAGP RGD:152999149 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000369 RGD:8554872 IAGP RGD:13472603 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000384 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000388 PMID:25741868|RGD:8554872 IAGP RGD:13210896 H mediator complex subunit 13L gene taxon:9606 20260602 ClinVar RGD 1314183 MED13L HP:0000388 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000388 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000388 RGD:8554872 IAGP RGD:25318501 H mediator complex subunit 13L gene taxon:9606 20260602 ClinVar RGD 1314183 MED13L HP:0000400 MIM:616789|ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250416 HPO RGD 1314183 MED13L HP:0000405 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000405 RGD:8554872 IAGP RGD:13530555 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000410 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000414 MIM:616789|ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250416 HPO RGD 1314183 MED13L HP:0000431 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000431 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000431 PMID:25741868|RGD:8554872 IAGP RGD:151348300 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000455 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000463 PMID:25741868|RGD:8554872 IAGP RGD:14702752 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000463 PMID:25741868|RGD:8554872 IAGP RGD:401917961 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000463 RGD:8554872 IAGP RGD:13472603 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000470 MIM:616789|ORPHA:369891|PMID:25758992|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0000483 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000486 MIM:616789|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000486 PMID:25741868|PMID:35887114|RGD:8554872 IAGP RGD:401829909 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000486 PMID:25741868|RGD:8554872 IAGP RGD:151662067 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000486 PMID:25741868|RGD:8554872 IAGP RGD:40887532 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000486 RGD:8554872 IAGP RGD:713687503 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000490 PMID:25741868|RGD:8554872 IAGP RGD:14702752 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000504 PMID:25741868|RGD:8554872 IAGP RGD:40887532 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000504 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000504 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000504 RGD:8554872 IAGP RGD:714062947 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000508 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000508 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000537 PMID:28492532|RGD:8554872 IAGP RGD:405103666 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000540 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000540 PMID:25741868|RGD:8554872 IAGP RGD:40887532 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000540 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000545 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000545 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000545 RGD:8554872 IAGP RGD:713687503 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000574 PMID:25741868|RGD:8554872 IAGP RGD:150557008 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000574 PMID:25741868|RGD:8554872 IAGP RGD:40887429 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000582 MIM:616789|ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250416 HPO RGD 1314183 MED13L HP:0000582 PMID:25741868|RGD:8554872 IAGP RGD:408395113 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000589 MIM:616789|PMID:25167861|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0000637 PMID:28492532|RGD:8554872 IAGP RGD:405103666 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000664 PMID:25741868|RGD:8554872 IAGP RGD:153000996 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000687 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000687 PMID:25741868|RGD:8554872 IAGP RGD:408394388 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000707 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:408394605 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:405866599 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:596946154 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:597831803 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000708 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000711 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000713 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000713 PMID:25741868|RGD:8554872 IAGP RGD:408394440 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000717 MIM:616789|ORPHA:369891|PMID:25758992|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0000717 PMID:25741868|RGD:8554872 IAGP RGD:153000996 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000717 PMID:28492532|RGD:8554872 IAGP RGD:26920221 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000717 RGD:8554872 IAGP RGD:13472603 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000717 RGD:8554872 IAGP RGD:151662268 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000717 RGD:8554872 IAGP RGD:151663544 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000717 RGD:8554872 IAGP RGD:151663676 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000717 RGD:8554872 IAGP RGD:713687503 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000718 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000718 PMID:28492532|RGD:8554872 IAGP RGD:26920221 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000718 RGD:8554872 IAGP RGD:13530513 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000725 PMID:25741868|RGD:8554872 IAGP RGD:408394440 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000729 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:14702752 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:150557008 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:243050503 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:329954427 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:40887532 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000729 PMID:25741868|RGD:8554872 IAGP RGD:40887534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000729 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000729 RGD:8554872 IAGP RGD:40887742 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000729 RGD:8554872 IAGP RGD:713687503 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000739 RGD:8554872 IAGP RGD:150546135 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000742 PMID:25741868|PMID:28492532|PMID:28554332|PMID:29511999|PMID:31785789|PMID:36798993|RGD:8554872 IAGP RGD:11051335 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:13612320 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:150534707 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:150556988 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:151348300 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:153000996 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:401855390 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:408393510 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:42722640 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 PMID:25741868|RGD:8554872 IAGP RGD:714283794 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 PMID:28492532|RGD:8554872 IAGP RGD:405103666 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 RGD:8554872 IAGP RGD:151663544 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 RGD:8554872 IAGP RGD:151663676 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 RGD:8554872 IAGP RGD:405291153 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 RGD:8554872 IAGP RGD:405854019 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000750 RGD:8554872 IAGP RGD:42722639 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000752 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0000767 RGD:8554872 IAGP RGD:40886949 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000772 RGD:8554872 IAGP RGD:40887742 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000776 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000817 PMID:25741868|RGD:8554872 IAGP RGD:14702752 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000821 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000924 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000924 RGD:8554872 IAGP RGD:40887742 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000954 RGD:8554872 IAGP RGD:13472603 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0000960 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001007 PMID:25741868|PMID:28492532|PMID:28554332|PMID:29511999|PMID:31785789|PMID:36798993|RGD:8554872 IAGP RGD:11051335 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001010 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001028 PMID:25712080|PMID:25758992|RGD:8554872 IAGP RGD:12913287 H mediator complex subunit 13L gene taxon:9606 20260616 ClinVar RGD 1314183 MED13L HP:0001155 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0001159 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0001159 PMID:25741868|RGD:8554872 IAGP RGD:405270417 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001194 RGD:8554872 IAGP RGD:40887742 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:14638541|PMID:25741868|RGD:8554872 IAGP RGD:713691544 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:14638541|PMID:25741868|RGD:8554872 IAGP RGD:714118765 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:23403903|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:26894649 H mediator complex subunit 13L gene taxon:9606 20210608 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25167861|RGD:8554872 IAGP RGD:11039848 H mediator complex subunit 13L gene taxon:9606 20210323 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11348341 H mediator complex subunit 13L gene taxon:9606 20241008 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38596633 H mediator complex subunit 13L gene taxon:9606 20250311 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:38596634 H mediator complex subunit 13L gene taxon:9606 20240403 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:11633155 H mediator complex subunit 13L gene taxon:9606 20230110 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20210323 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|PMID:35887114|RGD:8554872 IAGP RGD:401829909 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|PMID:36368352|RGD:8554872 IAGP RGD:127286232 H mediator complex subunit 13L gene taxon:9606 20250506 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:13210925 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:13797984 H mediator complex subunit 13L gene taxon:9606 20210323 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:14979428 H mediator complex subunit 13L gene taxon:9606 20210323 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:150556988 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:150557008 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:38596632 H mediator complex subunit 13L gene taxon:9606 20210323 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:401917961 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:405727103 H mediator complex subunit 13L gene taxon:9606 20240507 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:40814104 H mediator complex subunit 13L gene taxon:9606 20210323 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:40814106 H mediator complex subunit 13L gene taxon:9606 20210323 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:40814141 H mediator complex subunit 13L gene taxon:9606 20210323 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:40814142 H mediator complex subunit 13L gene taxon:9606 20210323 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:40814143 H mediator complex subunit 13L gene taxon:9606 20210323 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:408395113 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:42722640 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:596928439 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:596928511 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:28492532|RGD:8554872 IAGP RGD:127241018 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:28492532|RGD:8554872 IAGP RGD:26920221 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 PMID:28492532|RGD:8554872 IAGP RGD:405103666 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 RGD:8554872 IAGP RGD:13211153 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 RGD:8554872 IAGP RGD:151662268 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 RGD:8554872 IAGP RGD:151663544 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 RGD:8554872 IAGP RGD:153350060 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 RGD:8554872 IAGP RGD:405291153 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 RGD:8554872 IAGP RGD:42722639 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 RGD:8554872 IAGP RGD:713891341 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001249 RGD:8554872 IAGP RGD:713891460 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:14702752 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:150556988 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:401855390 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:127261622 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:127261658 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:156372192 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:26920221 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001250 RGD:8554872 IAGP RGD:150338409 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001250 RGD:8554872 IAGP RGD:150546135 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001250 RGD:8554872 IAGP RGD:151662268 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001250 RGD:8554872 IAGP RGD:151663544 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001250 RGD:8554872 IAGP RGD:151663676 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001250 RGD:8554872 IAGP RGD:153350060 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001251 MIM:616789|ORPHA:369891|PMID:25758992|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0001252 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0001252 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:40814104 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:598232770 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:598232968 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001252 RGD:8554872 IAGP RGD:13472603 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001252 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:150534707 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:151348300 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:152999149 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001256 PMID:25741868|RGD:8554872 IAGP RGD:408394440 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001260 MIM:616789|PMID:25167861|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0001263 MIM:616789|ORPHA:369891|PMID:25758992|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0001263 PMID:25712080|PMID:25741884|PMID:25758992|PMID:28492532|PMID:31785789|RGD:8554872 IAGP RGD:39456582 H mediator complex subunit 13L gene taxon:9606 20230214 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|PMID:28492532|PMID:28554332|PMID:29511999|PMID:31785789|PMID:36798993|RGD:8554872 IAGP RGD:11051335 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:127286217 H mediator complex subunit 13L gene taxon:9606 20210706 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:150556988 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:151348300 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:151662067 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:152999149 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:153000996 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:156436057 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:329954427 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:401917961 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:405270417 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:408394388 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:42722640 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:596921714 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:714283794 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:28492532|RGD:8554872 IAGP RGD:127241018 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 PMID:28492532|RGD:8554872 IAGP RGD:405103666 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 RGD:8554872 IAGP RGD:151233766 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 RGD:8554872 IAGP RGD:405291153 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 RGD:8554872 IAGP RGD:405854019 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001263 RGD:8554872 IAGP RGD:714062947 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001270 MIM:616789|ORPHA:369891|PMID:25167861|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0001270 PMID:25741868|PMID:35887114|RGD:8554872 IAGP RGD:401829909 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001270 PMID:25741868|RGD:8554872 IAGP RGD:401855390 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001270 RGD:8554872 IAGP RGD:713687503 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001276 PMID:25741868|RGD:8554872 IAGP RGD:40887532 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001276 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001276 PMID:25741868|RGD:8554872 IAGP RGD:596928511 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001276 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001276 RGD:8554872 IAGP RGD:40887742 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001284 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001285 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001288 RGD:8554872 IAGP RGD:713687503 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001290 MIM:616789|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0001290 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001290 RGD:8554872 IAGP RGD:11039858 H mediator complex subunit 13L gene taxon:9606 20260602 ClinVar RGD 1314183 MED13L HP:0001290 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001290 RGD:8554872 IAGP RGD:150546135 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001319 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001328 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0001344 PMID:28492532|RGD:8554872 IAGP RGD:26920221 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001344 RGD:8554872 IAGP RGD:151662224 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001357 MIM:616789|ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250416 HPO RGD 1314183 MED13L HP:0001382 PMID:25741868|RGD:8554872 IAGP RGD:150556988 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001382 PMID:25741868|RGD:8554872 IAGP RGD:152999149 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001385 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001488 PMID:25741868|RGD:8554872 IAGP RGD:152999149 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001488 PMID:25741868|RGD:8554872 IAGP RGD:596928439 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001508 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001508 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001510 PMID:25741868|RGD:8554872 IAGP RGD:150534707 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001510 PMID:25741868|RGD:8554872 IAGP RGD:150557008 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001510 PMID:25741868|RGD:8554872 IAGP RGD:408393510 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001511 PMID:25741868|RGD:8554872 IAGP RGD:151348300 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001513 PMID:25741868|RGD:8554872 IAGP RGD:714283794 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001513 RGD:8554872 IAGP RGD:11039858 H mediator complex subunit 13L gene taxon:9606 20260602 ClinVar RGD 1314183 MED13L HP:0001518 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001530 PMID:25741868|RGD:8554872 IAGP RGD:14702752 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001531 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001537 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0001537 RGD:8554872 IAGP RGD:405854019 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001548 RGD:8554872 IAGP RGD:11039858 H mediator complex subunit 13L gene taxon:9606 20260602 ClinVar RGD 1314183 MED13L HP:0001561 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001561 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001607 RGD:8554872 IAGP RGD:714062947 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001622 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001626 PMID:25741868|RGD:8554872 IAGP RGD:13212157 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001626 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001627 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0001629 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0001631 PMID:25741868|RGD:8554872 IAGP RGD:713960608 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001631 RGD:8554872 IAGP RGD:151233766 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001631 RGD:8554872 IAGP RGD:714062947 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001653 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001655 MIM:616789|ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250416 HPO RGD 1314183 MED13L HP:0001655 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001669 MIM:616789|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0001760 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0001760 RGD:8554872 IAGP RGD:11039858 H mediator complex subunit 13L gene taxon:9606 20260602 ClinVar RGD 1314183 MED13L HP:0001762 MIM:616789|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0001762 PMID:25741868|RGD:8554872 IAGP RGD:13674148 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001762 PMID:25741868|RGD:8554872 IAGP RGD:42722640 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001762 PMID:25741868|RGD:8554872 IAGP RGD:713960608 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001763 RGD:8554872 IAGP RGD:405854019 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001787 RGD:8554872 IAGP RGD:150546135 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001837 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001840 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001864 PMID:25741868|RGD:8554872 IAGP RGD:151348300 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001999 PMID:25741868|PMID:28492532|PMID:28554332|PMID:29511999|PMID:31785789|PMID:36798993|RGD:8554872 IAGP RGD:11051335 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:150556988 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:150557008 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:151662067 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001999 PMID:25741868|RGD:8554872 IAGP RGD:152999149 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0001999 RGD:8554872 IAGP RGD:11039858 H mediator complex subunit 13L gene taxon:9606 20260602 ClinVar RGD 1314183 MED13L HP:0001999 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002007 MIM:616789|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0002019 RGD:8554872 IAGP RGD:13472603 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002019 RGD:8554872 IAGP RGD:40887742 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002020 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002023 PMID:25741868|RGD:8554872 IAGP RGD:713960608 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002033 PMID:25741868|RGD:8554872 IAGP RGD:40887532 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002033 PMID:25741868|RGD:8554872 IAGP RGD:40887534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002033 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002033 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002043 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002061 RGD:8554872 IAGP RGD:151662224 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002069 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002069 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002086 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002086 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002099 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002162 PMID:25741868|RGD:8554872 IAGP RGD:152999149 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002167 RGD:8554872 IAGP RGD:405291153 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002171 RGD:8554872 IAGP RGD:13530195 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002187 PMID:25741868|RGD:8554872 IAGP RGD:14702752 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002187 PMID:28492532|RGD:8554872 IAGP RGD:156372192 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002187 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002187 RGD:8554872 IAGP RGD:714062947 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002194 PMID:25741868|RGD:8554872 IAGP RGD:150556988 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002194 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002194 PMID:28492532|RGD:8554872 IAGP RGD:405103666 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002194 RGD:8554872 IAGP RGD:713687503 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002197 PMID:25741868|RGD:8554872 IAGP RGD:596921714 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002197 PMID:28492532|RGD:8554872 IAGP RGD:156372192 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002236 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0002240 RGD:8554872 IAGP RGD:405854019 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002267 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002300 RGD:8554872 IAGP RGD:153350060 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002311 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0002311 RGD:8554872 IAGP RGD:713687503 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002313 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0002342 MIM:616789|ORPHA:369891|PMID:25167861|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20260209 HPO RGD 1314183 MED13L HP:0002342 PMID:25741868|PMID:28492532|PMID:28554332|PMID:29511999|PMID:31785789|PMID:36798993|RGD:8554872 IAGP RGD:11051335 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002342 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002342 PMID:25741868|RGD:8554872 IAGP RGD:40814140 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002342 PMID:28492532|RGD:8554872 IAGP RGD:127241018 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002353 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0002353 PMID:25741868|RGD:8554872 IAGP RGD:329954427 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002353 PMID:28492532|RGD:8554872 IAGP RGD:156372192 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002360 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:11633155 H mediator complex subunit 13L gene taxon:9606 20260707 ClinVar RGD 1314183 MED13L HP:0002360 PMID:25741868|RGD:8554872 IAGP RGD:14702752 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002373 PMID:25741868|RGD:8554872 IAGP RGD:153000996 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002376 PMID:25741868|RGD:8554872 IAGP RGD:151661791 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002376 PMID:25741868|RGD:8554872 IAGP RGD:329954427 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002376 PMID:25741868|RGD:8554872 IAGP RGD:596928511 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002376 RGD:8554872 IAGP RGD:151662224 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002415 RGD:8554872 IAGP RGD:151662224 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002416 RGD:8554872 IAGP RGD:405854019 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002463 RGD:8554872 IAGP RGD:405291153 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002465 MIM:616789|ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250416 HPO RGD 1314183 MED13L HP:0002465 RGD:8554872 IAGP RGD:13531754 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002465 RGD:8554872 IAGP RGD:405291153 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002465 RGD:8554872 IAGP RGD:405854019 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002474 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002474 PMID:25741868|RGD:8554872 IAGP RGD:408394388 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002475 RGD:8554872 IAGP RGD:13530323 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002500 RGD:8554872 IAGP RGD:714062947 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002518 RGD:8554872 IAGP RGD:11051543 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002540 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002553 PMID:25741868|RGD:8554872 IAGP RGD:408394388 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002553 PMID:25741868|RGD:8554872 IAGP RGD:596928439 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002643 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002643 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002714 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0002719 MIM:616789|PMID:25758992|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0002719 PMID:25741868|RGD:8554872 IAGP RGD:152999149 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002751 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002786 RGD:8554872 IAGP RGD:714062947 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002861 RGD:8554872 IAGP RGD:713668034 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002861 RGD:8554872 IAGP RGD:713668083 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002861 RGD:8554872 IAGP RGD:713668266 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002904 PMID:25741868|RGD:8554872 IAGP RGD:40887534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0002904 RGD:8554872 IAGP RGD:40887742 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0003193 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0003196 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0003196 PMID:25741868|RGD:8554872 IAGP RGD:151348300 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0003202 RGD:8554872 IAGP RGD:713687503 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0003508 PMID:25741868|RGD:8554872 IAGP RGD:152999149 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0003508 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0003593 MIM:616789|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0004322 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0004322 PMID:25741868|PMID:28492532|PMID:28554332|PMID:29511999|PMID:31785789|PMID:36798993|RGD:8554872 IAGP RGD:11051335 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:150557008 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:152999149 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:401830906 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:401917961 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:405270417 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0004322 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0004322 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0004482 PMID:25741868|RGD:8554872 IAGP RGD:150557008 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0004808 RGD:8554872 IAGP RGD:714040388 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0004808 RGD:8554872 IAGP RGD:714046007 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0004808 RGD:8554872 IAGP RGD:714103822 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0004808 RGD:8554872 IAGP RGD:714103826 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0005100 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0005280 MIM:616789|ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250416 HPO RGD 1314183 MED13L HP:0005280 RGD:8554872 IAGP RGD:13472603 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0005612 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0006483 RGD:8554872 IAGP RGD:11039858 H mediator complex subunit 13L gene taxon:9606 20260602 ClinVar RGD 1314183 MED13L HP:0006579 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0006610 PMID:25741868|RGD:8554872 IAGP RGD:152999149 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0006610 RGD:8554872 IAGP RGD:13533082 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0006863 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0007018 PMID:25741868|RGD:8554872 IAGP RGD:14702752 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0007018 PMID:25741868|RGD:8554872 IAGP RGD:151662067 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0007018 RGD:8554872 IAGP RGD:151663676 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0007064 PMID:25741868|PMID:28492532|PMID:28554332|PMID:29511999|PMID:31785789|PMID:36798993|RGD:8554872 IAGP RGD:11051335 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0007105 PMID:28492532|RGD:8554872 IAGP RGD:156372192 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0007302 RGD:8554872 IAGP RGD:40887581 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0007633 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0007700 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0008388 RGD:8554872 IAGP RGD:13530721 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0008872 PMID:25741868|RGD:8554872 IAGP RGD:40887532 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0008872 PMID:25741868|RGD:8554872 IAGP RGD:40887534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0008872 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0008872 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0008872 RGD:8554872 IAGP RGD:40887742 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0009719 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0009759 PMID:25741868|RGD:8554872 IAGP RGD:408394388 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0009765 PMID:25741868|RGD:8554872 IAGP RGD:596928439 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0009891 PMID:25741868|RGD:8554872 IAGP RGD:596928439 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0010055 PMID:25741868|RGD:8554872 IAGP RGD:408395113 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0010447 PMID:25741868|RGD:8554872 IAGP RGD:713960608 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0010628 PMID:25741868|RGD:8554872 IAGP RGD:150556988 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0010769 PMID:25741868|RGD:8554872 IAGP RGD:596928439 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0010780 PMID:25741868|RGD:8554872 IAGP RGD:14702752 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0010818 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0010841 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0010862 PMID:25741868|RGD:8554872 IAGP RGD:150556988 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0010862 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0010862 PMID:28492532|RGD:8554872 IAGP RGD:405103666 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0010864 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:11633155 H mediator complex subunit 13L gene taxon:9606 20260707 ClinVar RGD 1314183 MED13L HP:0010864 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0010864 PMID:25741868|RGD:8554872 IAGP RGD:40814139 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0010881 RGD:8554872 IAGP RGD:150546135 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0011220 MIM:616789|PMID:25758992|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0011228 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0011324 RGD:8554872 IAGP RGD:714062947 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0011335 PMID:25741868|RGD:8554872 IAGP RGD:151348300 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0011342 PMID:25741868|RGD:8554872 IAGP RGD:596928439 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0011352 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0011410 PMID:25741868|RGD:8554872 IAGP RGD:40887534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0011410 RGD:8554872 IAGP RGD:40887742 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0011419 RGD:8554872 IAGP RGD:40887742 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0011443 RGD:8554872 IAGP RGD:11039858 H mediator complex subunit 13L gene taxon:9606 20260602 ClinVar RGD 1314183 MED13L HP:0011443 RGD:8554872 IAGP RGD:150546135 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0011446 RGD:8554872 IAGP RGD:405291153 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0011473 PMID:14638541|PMID:25741868|RGD:8554872 IAGP RGD:713691544 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0011800 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0011800 PMID:25741868|RGD:8554872 IAGP RGD:151348300 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0011825 RGD:8554872 IAGP RGD:714062947 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0011968 RGD:8554872 IAGP RGD:13472603 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012126 RGD:8554872 IAGP RGD:713985847 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012126 RGD:8554872 IAGP RGD:713985859 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012210 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012372 PMID:25741868|RGD:8554872 IAGP RGD:329954427 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012385 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0012393 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012433 PMID:25741868|RGD:8554872 IAGP RGD:329954427 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012433 PMID:25741868|RGD:8554872 IAGP RGD:401917961 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012450 RGD:8554872 IAGP RGD:405854019 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012469 PMID:25741868|RGD:8554872 IAGP RGD:150556988 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012712 RGD:8554872 IAGP RGD:714062947 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012736 PMID:28492532|RGD:8554872 IAGP RGD:404986227 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012745 RGD:8554872 IAGP RGD:13472603 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012745 RGD:8554872 IAGP RGD:714062947 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:408393510 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012758 RGD:8554872 IAGP RGD:13472603 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012758 RGD:8554872 IAGP RGD:405291153 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012759 RGD:8554872 IAGP RGD:405291153 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0012760 PMID:25741868|RGD:8554872 IAGP RGD:14702752 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0025160 RGD:8554872 IAGP RGD:151663676 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0030084 MIM:616789|ORPHA:369891|PMID:25758992|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20250912 HPO RGD 1314183 MED13L HP:0030148 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0030148 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0030153 PMID:25741868|RGD:8554872 IAGP RGD:150512975 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0030264 PMID:25741868|RGD:8554872 IAGP RGD:713960608 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0030359 RGD:8554872 IAGP RGD:713668326 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0030369 PMID:25741868|RGD:8554872 IAGP RGD:40887572 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0030724 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0031987 RGD:8554872 IAGP RGD:713687503 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0032894 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0033725 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0034392 RGD:8554872 IAGP RGD:13508942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0040187 PMID:25741868|RGD:8554872 IAGP RGD:243062534 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0100021 PMID:25741868|RGD:8554872 IAGP RGD:151661791 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0100025 ORPHA:369891|RGD:8699517 IAGP H mediator complex subunit 13L gene taxon:9606 20230821 HPO RGD 1314183 MED13L HP:0100242 RGD:8554872 IAGP RGD:713668047 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0100242 RGD:8554872 IAGP RGD:713668370 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0100522 PMID:28492532|RGD:8554872 IAGP RGD:14710942 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0100526 RGD:8554872 IAGP RGD:713668180 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0100526 RGD:8554872 IAGP RGD:713668194 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0100543 RGD:8554872 IAGP RGD:11039858 H mediator complex subunit 13L gene taxon:9606 20260602 ClinVar RGD 1314183 MED13L HP:0100543 RGD:8554872 IAGP RGD:150546135 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0100543 RGD:8554872 IAGP RGD:405291153 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0100602 PMID:28492532|RGD:8554872 IAGP RGD:127241018 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0100710 PMID:25741868|RGD:8554872 IAGP RGD:408394440 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0100790 PMID:25741868|PMID:29511999|RGD:8554872 IAGP RGD:40814105 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0200055 RGD:8554872 IAGP RGD:714062947 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314183 MED13L HP:0200141 RGD:8554872 IAGP RGD:714062947 H mediator complex subunit 13L gene taxon:9606 20260519 ClinVar RGD 1314184 SULT1C2 HP:0001402 RGD:8554872 IAGP RGD:714262176 H sulfotransferase family 1C member 2 gene taxon:9606 20260519 ClinVar RGD 1314184 SULT1C2 HP:0002861 RGD:8554872 IAGP RGD:713810987 H sulfotransferase family 1C member 2 gene taxon:9606 20260519 ClinVar RGD 1314184 SULT1C2 HP:0012126 RGD:8554872 IAGP RGD:713927190 H sulfotransferase family 1C member 2 gene taxon:9606 20260519 ClinVar RGD 1314186 SH3GLB2 HP:0001402 RGD:8554872 IAGP RGD:714157055 H SH3 domain containing GRB2 like, endophilin B2 gene taxon:9606 20260519 ClinVar RGD 1314186 SH3GLB2 HP:0004808 RGD:8554872 IAGP RGD:714254784 H SH3 domain containing GRB2 like, endophilin B2 gene taxon:9606 20260519 ClinVar RGD 1314186 SH3GLB2 HP:0006770 RGD:8554872 IAGP RGD:713550880 H SH3 domain containing GRB2 like, endophilin B2 gene taxon:9606 20260519 ClinVar RGD 1314186 SH3GLB2 HP:0006770 RGD:8554872 IAGP RGD:713550901 H SH3 domain containing GRB2 like, endophilin B2 gene taxon:9606 20260519 ClinVar RGD 1314186 SH3GLB2 HP:0100242 RGD:8554872 IAGP RGD:713550986 H SH3 domain containing GRB2 like, endophilin B2 gene taxon:9606 20260519 ClinVar RGD 1314186 SH3GLB2 HP:0100242 RGD:8554872 IAGP RGD:713551038 H SH3 domain containing GRB2 like, endophilin B2 gene taxon:9606 20260519 ClinVar RGD 1314186 SH3GLB2 HP:0100242 RGD:8554872 IAGP RGD:713551056 H SH3 domain containing GRB2 like, endophilin B2 gene taxon:9606 20260519 ClinVar RGD 1314186 SH3GLB2 HP:0100242 RGD:8554872 IAGP RGD:714254773 H SH3 domain containing GRB2 like, endophilin B2 gene taxon:9606 20260519 ClinVar RGD 1314186 SH3GLB2 HP:0100522 RGD:8554872 IAGP RGD:713551081 H SH3 domain containing GRB2 like, endophilin B2 gene taxon:9606 20260519 ClinVar RGD 1314186 SH3GLB2 HP:0100526 RGD:8554872 IAGP RGD:713550860 H SH3 domain containing GRB2 like, endophilin B2 gene taxon:9606 20260519 ClinVar RGD 1314189 HS6ST3 HP:0006770 RGD:8554872 IAGP RGD:713885266 H heparan sulfate 6-O-sulfotransferase 3 gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0000062 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0000133 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0000144 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0000194 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0000218 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0000252 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0000297 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0000365 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0000670 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0000786 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0000823 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0000837 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0000869 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0000938 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0001166 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0001251 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0001252 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0001939 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0002015 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0002072 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0002079 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0002099 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0002206 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0002225 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0002353 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0002540 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0002714 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0002750 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0002835 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0002861 RGD:8554872 IAGP RGD:713757949 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0004322 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0004349 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0005625 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0008209 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0008214 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0008577 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0008684 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0009888 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0010311 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0010464 ORPHA:243|RGD:8699517 IAGP H RNA polymerase III subunit H gene taxon:9606 20230821 HPO RGD 1314191 POLR3H HP:0012126 RGD:8554872 IAGP RGD:713604000 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0033454 PMID:25741868|RGD:8554872 IAGP RGD:713713546 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0100242 RGD:8554872 IAGP RGD:713757873 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314191 POLR3H HP:0100526 RGD:8554872 IAGP RGD:713757887 H RNA polymerase III subunit H gene taxon:9606 20260519 ClinVar RGD 1314197 TCF7 HP:0001402 RGD:8554872 IAGP RGD:714074466 H transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314197 TCF7 HP:0002665 RGD:8554872 IAGP RGD:714118129 H transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314197 TCF7 HP:0002861 RGD:8554872 IAGP RGD:713875855 H transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314197 TCF7 HP:0004808 RGD:8554872 IAGP RGD:713455878 H transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314197 TCF7 HP:0004808 RGD:8554872 IAGP RGD:713460201 H transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314197 TCF7 HP:0006770 RGD:8554872 IAGP RGD:713875937 H transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314197 TCF7 HP:0007716 RGD:8554872 IAGP RGD:714010957 H transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314197 TCF7 HP:0012126 RGD:8554872 IAGP RGD:713781601 H transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314197 TCF7 HP:0100526 RGD:8554872 IAGP RGD:713781571 H transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314201 MRRF HP:0001402 RGD:8554872 IAGP RGD:714156996 H mitochondrial ribosome recycling factor gene taxon:9606 20260519 ClinVar RGD 1314201 MRRF HP:0012126 RGD:8554872 IAGP RGD:714256345 H mitochondrial ribosome recycling factor gene taxon:9606 20260519 ClinVar RGD 1314201 MRRF HP:0100526 RGD:8554872 IAGP RGD:713497561 H mitochondrial ribosome recycling factor gene taxon:9606 20260519 ClinVar RGD 1314203 BEND7 HP:0004808 RGD:8554872 IAGP RGD:713781643 H BEN domain containing 7 gene taxon:9606 20260519 ClinVar RGD 1314203 BEND7 HP:0006770 RGD:8554872 IAGP RGD:713375693 H BEN domain containing 7 gene taxon:9606 20260519 ClinVar RGD 1314203 BEND7 HP:0012126 RGD:8554872 IAGP RGD:713738960 H BEN domain containing 7 gene taxon:9606 20260519 ClinVar RGD 1314203 BEND7 HP:0100242 RGD:8554872 IAGP RGD:713781657 H BEN domain containing 7 gene taxon:9606 20260519 ClinVar RGD 1314203 BEND7 HP:0100522 RGD:8554872 IAGP RGD:713781643 H BEN domain containing 7 gene taxon:9606 20260519 ClinVar RGD 1314203 BEND7 HP:0100526 RGD:8554872 IAGP RGD:713377570 H BEN domain containing 7 gene taxon:9606 20260519 ClinVar RGD 1314203 BEND7 HP:0100526 RGD:8554872 IAGP RGD:713738960 H BEN domain containing 7 gene taxon:9606 20260707 ClinVar RGD 1314206 SPART HP:0000007 MIM:275900|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0000012 MIM:275900|PMID:20301556|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0000126 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0000252 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0000276 PMID:25741868|RGD:8554872 IAGP RGD:152999254 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0000286 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0000316 MIM:275900|ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20250416 HPO RGD 1314206 SPART HP:0000369 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0000448 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0000486 PMID:25741868|RGD:8554872 IAGP RGD:9850302 H spartin gene taxon:9606 20260602 ClinVar RGD 1314206 SPART HP:0000494 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0000639 MIM:275900|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0000708 PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532|PMID:28679690|RGD:8554872 IAGP RGD:12850150 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0000709 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0000712 MIM:275900|ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20250416 HPO RGD 1314206 SPART HP:0000738 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0000739 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0000750 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0000750 PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532|PMID:28679690|RGD:8554872 IAGP RGD:12850150 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0000924 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0001155 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0001156 MIM:275900|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0001172 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:151348591 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0001250 PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532|PMID:28679690|RGD:8554872 IAGP RGD:12850150 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0001256 MIM:275900|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20260209 HPO RGD 1314206 SPART HP:0001257 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0001258 MIM:275900|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0001260 MIM:275900|ORPHA:101000|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0001263 MIM:275900|ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20250416 HPO RGD 1314206 SPART HP:0001263 PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155938971 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:152999254 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0001266 PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155938971 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0001270 MIM:275900|ORPHA:101000|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0001270 PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155938971 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0001272 MIM:275900|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0001288 MIM:275900|RGD:8699517 IAGP H spartin gene taxon:9606 20240815 HPO RGD 1314206 SPART HP:0001290 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0001310 MIM:275900|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0001317 MIM:275900|ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20250416 HPO RGD 1314206 SPART HP:0001324 PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155938971 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0001328 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0001347 MIM:275900|ORPHA:101000|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0001350 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0001350 PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155938971 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0001371 MIM:275900|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0001382 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0001508 PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155938971 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0001510 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0001510 PMID:25741868|RGD:8554872 IAGP RGD:152999254 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0001609 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0001760 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0001761 MIM:275900|ORPHA:101000|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0001765 MIM:275900|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0001773 MIM:275900|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0002015 MIM:275900|ORPHA:101000|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0002019 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0002061 MIM:275900|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0002064 MIM:275900|ORPHA:101000|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0002307 MIM:275900|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0002313 MIM:275900|ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20250416 HPO RGD 1314206 SPART HP:0002317 PMID:25741868|RGD:8554872 IAGP RGD:152999254 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0002342 PMID:25741868|RGD:8554872 IAGP RGD:151348591 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0002360 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0002360 PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532|PMID:28679690|RGD:8554872 IAGP RGD:12850150 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0002464 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0002495 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0002719 PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532|PMID:28679690|RGD:8554872 IAGP RGD:12850150 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0002751 MIM:275900|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0002857 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0003202 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0003484 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0003487 MIM:275900|ORPHA:101000|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0003693 MIM:275900|ORPHA:101000|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0004322 MIM:275900|ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20250416 HPO RGD 1314206 SPART HP:0005288 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0005639 MIM:275900|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0005922 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0006725 RGD:8554872 IAGP RGD:713868724 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0006938 MIM:275900|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0006986 MIM:275900|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0007340 MIM:275900|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0009487 MIM:275900|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0011094 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0011098 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0011448 MIM:275900|ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20250416 HPO RGD 1314206 SPART HP:0011449 MIM:275900|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0011463 MIM:275900|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0012371 MIM:275900|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0012385 MIM:275900|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0012443 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0012450 MIM:275900|PMID:18413476|RGD:8699517 IAGP H spartin gene taxon:9606 20250912 HPO RGD 1314206 SPART HP:0012758 PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532|PMID:28679690|RGD:8554872 IAGP RGD:12850150 H spartin gene taxon:9606 20230214 ClinVar RGD 1314206 SPART HP:0012758 PMID:25741868|RGD:8554872 IAGP RGD:153348507 H spartin gene taxon:9606 20220906 ClinVar RGD 1314206 SPART HP:0025269 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0030084 MIM:275900|ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20250416 HPO RGD 1314206 SPART HP:0100518 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0100526 RGD:8554872 IAGP RGD:713868710 H spartin gene taxon:9606 20260519 ClinVar RGD 1314206 SPART HP:0100543 ORPHA:101000|RGD:8699517 IAGP H spartin gene taxon:9606 20230821 HPO RGD 1314206 SPART HP:0100543 PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155938971 H spartin gene taxon:9606 20260519 ClinVar RGD 1314208 CSTF3 HP:0001402 RGD:8554872 IAGP RGD:714157618 H cleavage stimulation factor subunit 3 gene taxon:9606 20260519 ClinVar RGD 1314208 CSTF3 HP:0002861 RGD:8554872 IAGP RGD:714225348 H cleavage stimulation factor subunit 3 gene taxon:9606 20260519 ClinVar RGD 1314208 CSTF3 HP:0004808 RGD:8554872 IAGP RGD:713748300 H cleavage stimulation factor subunit 3 gene taxon:9606 20260519 ClinVar RGD 1314208 CSTF3 HP:0100526 RGD:8554872 IAGP RGD:714225345 H cleavage stimulation factor subunit 3 gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0001402 PMID:25741868|RGD:8554872 IAGP RGD:150471633 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0001402 RGD:8554872 IAGP RGD:713750147 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0001402 RGD:8554872 IAGP RGD:713770687 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0001402 RGD:8554872 IAGP RGD:713770701 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0001402 RGD:8554872 IAGP RGD:713770716 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0001402 RGD:8554872 IAGP RGD:713770730 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0002861 RGD:8554872 IAGP RGD:713798560 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0002861 RGD:8554872 IAGP RGD:713798572 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0004808 RGD:8554872 IAGP RGD:150516980 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0004808 RGD:8554872 IAGP RGD:713571279 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0006725 RGD:8554872 IAGP RGD:713798532 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0006770 RGD:8554872 IAGP RGD:713798581 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0012126 RGD:8554872 IAGP RGD:713469821 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0030153 PMID:25741868|RGD:8554872 IAGP RGD:150471633 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0030153 RGD:8554872 IAGP RGD:713934003 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0100242 RGD:8554872 IAGP RGD:150465880 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0100242 RGD:8554872 IAGP RGD:150516980 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0100242 RGD:8554872 IAGP RGD:713798594 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0100522 RGD:8554872 IAGP RGD:150516980 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0100522 RGD:8554872 IAGP RGD:713798464 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B HP:0100522 RGD:8554872 IAGP RGD:713798475 H lysine acetyltransferase 2B gene taxon:9606 20260519 ClinVar RGD 1314209 KAT2B severity HP:0004761 RGD:9590309|PMID:21062767 IAGP H lysine acetyltransferase 2B gene taxon:9606 20180710 RGD RGD 1314212 EPYC HP:0012126 RGD:8554872 IAGP RGD:713798933 H epiphycan gene taxon:9606 20260519 ClinVar RGD 1314212 EPYC HP:0100526 RGD:8554872 IAGP RGD:714080354 H epiphycan gene taxon:9606 20260519 ClinVar RGD 1314214 SLC7A4 HP:0004808 RGD:8554872 IAGP RGD:713970320 H solute carrier family 7 member 4 gene taxon:9606 20260519 ClinVar RGD 1314214 SLC7A4 HP:0007716 RGD:8554872 IAGP RGD:713968197 H solute carrier family 7 member 4 gene taxon:9606 20260519 ClinVar RGD 1314214 SLC7A4 HP:0100526 RGD:8554872 IAGP RGD:713883980 H solute carrier family 7 member 4 gene taxon:9606 20260519 ClinVar RGD 1314216 LATS2 HP:0100003 RGD:8554872 IAGP RGD:14394893 H large tumor suppressor kinase 2 gene taxon:9606 20260519 ClinVar RGD 1314216 LATS2 HP:0100242 RGD:8554872 IAGP RGD:713859468 H large tumor suppressor kinase 2 gene taxon:9606 20260519 ClinVar RGD 1314216 LATS2 HP:0100522 RGD:8554872 IAGP RGD:713659607 H large tumor suppressor kinase 2 gene taxon:9606 20260519 ClinVar RGD 1314216 LATS2 HP:0100522 RGD:8554872 IAGP RGD:713859396 H large tumor suppressor kinase 2 gene taxon:9606 20260519 ClinVar RGD 1314216 LATS2 HP:0100522 RGD:8554872 IAGP RGD:713859452 H large tumor suppressor kinase 2 gene taxon:9606 20260519 ClinVar RGD 1314220 TNFAIP8 HP:0004808 RGD:8554872 IAGP RGD:713451938 H TNF alpha induced protein 8 gene taxon:9606 20260519 ClinVar RGD 1314220 TNFAIP8 HP:0004808 RGD:8554872 IAGP RGD:713455784 H TNF alpha induced protein 8 gene taxon:9606 20260519 ClinVar RGD 1314220 TNFAIP8 HP:0012126 RGD:8554872 IAGP RGD:713455784 H TNF alpha induced protein 8 gene taxon:9606 20260519 ClinVar RGD 1314220 TNFAIP8 HP:0100526 RGD:8554872 IAGP RGD:713455784 H TNF alpha induced protein 8 gene taxon:9606 20260519 ClinVar RGD 1314222 NDUFB5 HP:0001402 RGD:8554872 IAGP RGD:713749650 H NADH:ubiquinone oxidoreductase subunit B5 gene taxon:9606 20260519 ClinVar RGD 1314222 NDUFB5 HP:0002861 RGD:8554872 IAGP RGD:713835353 H NADH:ubiquinone oxidoreductase subunit B5 gene taxon:9606 20260519 ClinVar RGD 1314222 NDUFB5 HP:0006770 RGD:8554872 IAGP RGD:713835478 H NADH:ubiquinone oxidoreductase subunit B5 gene taxon:9606 20260519 ClinVar RGD 1314222 NDUFB5 HP:0012126 RGD:8554872 IAGP RGD:713599680 H NADH:ubiquinone oxidoreductase subunit B5 gene taxon:9606 20260519 ClinVar RGD 1314222 NDUFB5 HP:0030359 RGD:8554872 IAGP RGD:713835286 H NADH:ubiquinone oxidoreductase subunit B5 gene taxon:9606 20260519 ClinVar RGD 1314222 NDUFB5 HP:0100526 RGD:8554872 IAGP RGD:713835437 H NADH:ubiquinone oxidoreductase subunit B5 gene taxon:9606 20260519 ClinVar RGD 1314224 SORCS1 HP:0002861 RGD:8554872 IAGP RGD:713787056 H sortilin related VPS10 domain containing receptor 1 gene taxon:9606 20260519 ClinVar RGD 1314224 SORCS1 HP:0002861 RGD:8554872 IAGP RGD:713787070 H sortilin related VPS10 domain containing receptor 1 gene taxon:9606 20260519 ClinVar RGD 1314224 SORCS1 HP:0002861 RGD:8554872 IAGP RGD:713787111 H sortilin related VPS10 domain containing receptor 1 gene taxon:9606 20260519 ClinVar RGD 1314224 SORCS1 HP:0002861 RGD:8554872 IAGP RGD:713787159 H sortilin related VPS10 domain containing receptor 1 gene taxon:9606 20260519 ClinVar RGD 1314224 SORCS1 HP:0004808 RGD:8554872 IAGP RGD:713777223 H sortilin related VPS10 domain containing receptor 1 gene taxon:9606 20260519 ClinVar RGD 1314224 SORCS1 HP:0012125 RGD:8554872 IAGP RGD:9686889 H sortilin related VPS10 domain containing receptor 1 gene taxon:9606 20250708 ClinVar RGD 1314224 SORCS1 HP:0012126 RGD:8554872 IAGP RGD:713733870 H sortilin related VPS10 domain containing receptor 1 gene taxon:9606 20260519 ClinVar RGD 1314224 SORCS1 HP:0012126 RGD:8554872 IAGP RGD:713733896 H sortilin related VPS10 domain containing receptor 1 gene taxon:9606 20260519 ClinVar RGD 1314224 SORCS1 HP:0012126 RGD:8554872 IAGP RGD:713733940 H sortilin related VPS10 domain containing receptor 1 gene taxon:9606 20260519 ClinVar RGD 1314224 SORCS1 HP:0100242 RGD:8554872 IAGP RGD:713787122 H sortilin related VPS10 domain containing receptor 1 gene taxon:9606 20260519 ClinVar RGD 1314224 SORCS1 HP:0100242 RGD:8554872 IAGP RGD:713787136 H sortilin related VPS10 domain containing receptor 1 gene taxon:9606 20260519 ClinVar RGD 1314224 SORCS1 HP:0100242 RGD:8554872 IAGP RGD:713787147 H sortilin related VPS10 domain containing receptor 1 gene taxon:9606 20260519 ClinVar RGD 1314224 SORCS1 HP:0100522 RGD:8554872 IAGP RGD:713787214 H sortilin related VPS10 domain containing receptor 1 gene taxon:9606 20260519 ClinVar RGD 1314224 SORCS1 HP:0100522 RGD:8554872 IAGP RGD:714260979 H sortilin related VPS10 domain containing receptor 1 gene taxon:9606 20260519 ClinVar RGD 1314224 SORCS1 HP:0100526 RGD:8554872 IAGP RGD:713787172 H sortilin related VPS10 domain containing receptor 1 gene taxon:9606 20260519 ClinVar RGD 1314226 AP1S1 HP:0000007 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0000348 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0000407 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0000518 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0000582 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0000707 PMID:25741868|RGD:8554872 IAGP RGD:401940472 H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20260519 ClinVar RGD 1314226 AP1S1 HP:0000962 ORPHA:171851|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20230821 HPO RGD 1314226 AP1S1 HP:0001249 MIM:609313|ORPHA:171851|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0001252 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0001263 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0001394 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0001395 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0001396 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0001406 ORPHA:171851|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20230821 HPO RGD 1314226 AP1S1 HP:0001510 MIM:609313|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20230821 HPO RGD 1314226 AP1S1 HP:0001522 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0002014 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0002242 ORPHA:171851|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20230821 HPO RGD 1314226 AP1S1 HP:0002580 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0003577 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0003811 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0003819 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0004388 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0005235 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0008064 MIM:609313|ORPHA:171851|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0009830 MIM:609313|ORPHA:171851|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0010783 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314226 AP1S1 HP:0010837 ORPHA:171851|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20230821 HPO RGD 1314226 AP1S1 HP:0011797 RGD:8554872 IAGP RGD:713716583 H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20260519 ClinVar RGD 1314226 AP1S1 HP:0011967 ORPHA:171851|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20230821 HPO RGD 1314226 AP1S1 HP:0012126 RGD:8554872 IAGP RGD:713571062 H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20260519 ClinVar RGD 1314226 AP1S1 HP:0033643 MIM:609313|PMID:19057675|RGD:8699517 IAGP H adaptor related protein complex 1 subunit sigma 1 gene taxon:9606 20250912 HPO RGD 1314228 RACGAP1 HP:0000007 MIM:619789|PMID:34818416|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20250912 HPO RGD 1314228 RACGAP1 HP:0000225 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0000980 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0001402 PMID:25741868|RGD:8554872 IAGP RGD:150446972 H Rac GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1314228 RACGAP1 HP:0001877 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0001903 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0001972 MIM:619789|PMID:34818416|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20250912 HPO RGD 1314228 RACGAP1 HP:0002249 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0002315 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0002904 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0002910 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0003452 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0004322 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0004447 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0005518 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0005532 MIM:619789|PMID:34818416|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20250912 HPO RGD 1314228 RACGAP1 HP:0011273 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0011463 MIM:619789|PMID:34818416|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20250912 HPO RGD 1314228 RACGAP1 HP:0011891 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0012126 RGD:8554872 IAGP RGD:713624771 H Rac GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1314228 RACGAP1 HP:0012126 RGD:8554872 IAGP RGD:713624780 H Rac GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1314228 RACGAP1 HP:0012126 RGD:8554872 IAGP RGD:713624785 H Rac GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1314228 RACGAP1 HP:0012126 RGD:8554872 IAGP RGD:714039949 H Rac GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1314228 RACGAP1 HP:0012130 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0012378 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0025035 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0025196 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0025354 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0030140 ORPHA:98870|RGD:8699517 IAGP H Rac GTPase activating protein 1 gene taxon:9606 20230821 HPO RGD 1314228 RACGAP1 HP:0100242 RGD:8554872 IAGP RGD:713864543 H Rac GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1314228 RACGAP1 HP:0100242 RGD:8554872 IAGP RGD:714042951 H Rac GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1314228 RACGAP1 HP:0100526 RGD:8554872 IAGP RGD:713864558 H Rac GTPase activating protein 1 gene taxon:9606 20260519 ClinVar RGD 1314230 RPL10L HP:0000007 MIM:619689|PMID:32111475|RGD:8699517 IAGP H ribosomal protein L10 like gene taxon:9606 20250912 HPO RGD 1314230 RPL10L HP:0000027 ORPHA:399805|RGD:8699517 IAGP H ribosomal protein L10 like gene taxon:9606 20230821 HPO RGD 1314230 RPL10L HP:0000028 RGD:8554872 IAGP RGD:127261664 H ribosomal protein L10 like gene taxon:9606 20260519 ClinVar RGD 1314230 RPL10L HP:0000118 ORPHA:399805|RGD:8699517 IAGP H ribosomal protein L10 like gene taxon:9606 20230821 HPO RGD 1314230 RPL10L HP:0000256 RGD:8554872 IAGP RGD:127261664 H ribosomal protein L10 like gene taxon:9606 20260519 ClinVar RGD 1314230 RPL10L HP:0000421 RGD:8554872 IAGP RGD:127261664 H ribosomal protein L10 like gene taxon:9606 20260519 ClinVar RGD 1314230 RPL10L HP:0000729 RGD:8554872 IAGP RGD:127261664 H ribosomal protein L10 like gene taxon:9606 20260519 ClinVar RGD 1314230 RPL10L HP:0000798 MIM:619689|PMID:32111475|RGD:8699517 IAGP H ribosomal protein L10 like gene taxon:9606 20250912 HPO RGD 1314230 RPL10L HP:0000837 ORPHA:399805|RGD:8699517 IAGP H ribosomal protein L10 like gene taxon:9606 20230821 HPO RGD 1314230 RPL10L HP:0001263 RGD:8554872 IAGP RGD:127261664 H ribosomal protein L10 like gene taxon:9606 20260519 ClinVar RGD 1314230 RPL10L HP:0001290 RGD:8554872 IAGP RGD:127261664 H ribosomal protein L10 like gene taxon:9606 20260519 ClinVar RGD 1314230 RPL10L HP:0003251 MIM:619689|PMID:32111475|RGD:8699517 IAGP H ribosomal protein L10 like gene taxon:9606 20250912 HPO RGD 1314230 RPL10L HP:0003487 RGD:8554872 IAGP RGD:127261664 H ribosomal protein L10 like gene taxon:9606 20260519 ClinVar RGD 1314230 RPL10L HP:0007018 RGD:8554872 IAGP RGD:127261664 H ribosomal protein L10 like gene taxon:9606 20260519 ClinVar RGD 1314230 RPL10L HP:0008669 ORPHA:399805|RGD:8699517 IAGP H ribosomal protein L10 like gene taxon:9606 20230821 HPO RGD 1314230 RPL10L HP:0008734 MIM:619689|ORPHA:399805|PMID:32111475|RGD:8699517 IAGP H ribosomal protein L10 like gene taxon:9606 20250912 HPO RGD 1314230 RPL10L HP:0011462 MIM:619689|PMID:32111475|RGD:8699517 IAGP H ribosomal protein L10 like gene taxon:9606 20250912 HPO RGD 1314230 RPL10L HP:0011961 ORPHA:399805|RGD:8699517 IAGP H ribosomal protein L10 like gene taxon:9606 20230821 HPO RGD 1314230 RPL10L HP:0011962 ORPHA:399805|RGD:8699517 IAGP H ribosomal protein L10 like gene taxon:9606 20230821 HPO RGD 1314230 RPL10L HP:0012125 RGD:8554872 IAGP RGD:9687114 H ribosomal protein L10 like gene taxon:9606 20250708 ClinVar RGD 1314230 RPL10L HP:0034011 MIM:619689|PMID:32111475|RGD:8699517 IAGP H ribosomal protein L10 like gene taxon:9606 20250912 HPO RGD 1314230 RPL10L HP:0034818 PMID:32111475|RGD:8554872 IAGP RGD:26902897 H ribosomal protein L10 like gene taxon:9606 20260519 ClinVar RGD 1314231 HES7 HP:0000007 MIM:613686|PMID:18775957|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20260209 HPO RGD 1314231 HES7 HP:0000008 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0000011 MIM:613686|PMID:18775957|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0000023 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0000023 PMID:20087400|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155268412 H hes family bHLH transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314231 HES7 HP:0000028 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0000047 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0000069 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0000089 PMID:20087400|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155268412 H hes family bHLH transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314231 HES7 HP:0000175 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20260209 HPO RGD 1314231 HES7 HP:0000238 MIM:613686|PMID:18775957|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0000252 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20260209 HPO RGD 1314231 HES7 HP:0000256 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0000269 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0000337 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0000343 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20260209 HPO RGD 1314231 HES7 HP:0000358 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20240815 HPO RGD 1314231 HES7 HP:0000463 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0000470 MIM:613686|ORPHA:2311|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20260209 HPO RGD 1314231 HES7 HP:0000475 MIM:613686|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0000767 MIM:613686|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20260209 HPO RGD 1314231 HES7 HP:0000772 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0000776 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0000902 MIM:613686|ORPHA:2311|PMID:18775957|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0000902 PMID:20087400|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155268412 H hes family bHLH transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314231 HES7 HP:0000921 MIM:613686|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0001249 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20260209 HPO RGD 1314231 HES7 HP:0001511 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20260209 HPO RGD 1314231 HES7 HP:0001537 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0001591 MIM:613686|PMID:18775957|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0001651 MIM:613686|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0001696 MIM:613686|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0002025 MIM:613686|PMID:18775957|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0002091 MIM:613686|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0002093 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0002435 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0002475 MIM:613686|PMID:18775957|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0002650 MIM:613686|ORPHA:2311|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20251023 HPO RGD 1314231 HES7 HP:0002808 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0002937 MIM:613686|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0002943 PMID:20087400|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155268412 H hes family bHLH transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314231 HES7 HP:0002948 MIM:613686|PMID:18775957|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0002949 PMID:25741868|RGD:8554872 IAGP RGD:714152538 H hes family bHLH transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314231 HES7 HP:0003298 MIM:613686|ORPHA:2311|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0003305 MIM:613686|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0003310 MIM:613686|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0003312 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0003422 MIM:613686|ORPHA:2311|PMID:18775957|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0003577 MIM:613686|PMID:18775957|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0004322 MIM:613686|ORPHA:2311|PMID:18775957|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0004322 PMID:20087400|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155268412 H hes family bHLH transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314231 HES7 HP:0004397 MIM:613686|PMID:18775957|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0004808 RGD:8554872 IAGP RGD:714187221 H hes family bHLH transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314231 HES7 HP:0005108 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0005280 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20260209 HPO RGD 1314231 HES7 HP:0006101 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0006655 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0008467 PMID:20087400|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155268412 H hes family bHLH transcription factor 7 gene taxon:9606 20260519 ClinVar RGD 1314231 HES7 HP:0010306 MIM:613686|ORPHA:2311|PMID:18775957|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0010772 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0010978 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0025660 MIM:613686|PMID:18775957|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0030322 MIM:613686|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0030323 MIM:613686|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0030680 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0032341 MIM:613686|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0032342 MIM:613686|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0034566 MIM:613686|PMID:20087400|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20250912 HPO RGD 1314231 HES7 HP:0100490 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314231 HES7 HP:0100589 ORPHA:2311|RGD:8699517 IAGP H hes family bHLH transcription factor 7 gene taxon:9606 20230821 HPO RGD 1314237 ZNF213 HP:0001402 RGD:8554872 IAGP RGD:713356079 H zinc finger protein 213 gene taxon:9606 20260519 ClinVar RGD 1314237 ZNF213 HP:0002861 RGD:8554872 IAGP RGD:713700318 H zinc finger protein 213 gene taxon:9606 20260519 ClinVar RGD 1314237 ZNF213 HP:0006770 RGD:8554872 IAGP RGD:713700361 H zinc finger protein 213 gene taxon:9606 20260519 ClinVar RGD 1314238 TTC7B HP:0012126 RGD:8554872 IAGP RGD:713956914 H tetratricopeptide repeat domain 7B gene taxon:9606 20260519 ClinVar RGD 1314238 TTC7B HP:0100526 RGD:8554872 IAGP RGD:713545468 H tetratricopeptide repeat domain 7B gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0001402 RGD:8554872 IAGP RGD:714087766 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0001402 RGD:8554872 IAGP RGD:714087775 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0002665 RGD:8554872 IAGP RGD:714254660 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0002861 RGD:8554872 IAGP RGD:713548903 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0002861 RGD:8554872 IAGP RGD:713548931 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0003003 RGD:8554872 IAGP RGD:714254660 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0004808 RGD:8554872 IAGP RGD:714254660 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0006770 RGD:8554872 IAGP RGD:714254660 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0007269 PMID:25741868|RGD:8554872 IAGP RGD:38460303 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0007269 PMID:25741868|RGD:8554872 IAGP RGD:38460306 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0007716 RGD:8554872 IAGP RGD:714254660 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0012126 RGD:8554872 IAGP RGD:713718881 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0012126 RGD:8554872 IAGP RGD:713718906 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0012126 RGD:8554872 IAGP RGD:713718921 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0012126 RGD:8554872 IAGP RGD:713718966 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0012126 RGD:8554872 IAGP RGD:713718979 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0012126 RGD:8554872 IAGP RGD:714254660 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0030153 RGD:8554872 IAGP RGD:714254660 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0100242 RGD:8554872 IAGP RGD:713548878 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0100242 RGD:8554872 IAGP RGD:713718935 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0100242 RGD:8554872 IAGP RGD:714254660 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0100522 RGD:8554872 IAGP RGD:713511528 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0100522 RGD:8554872 IAGP RGD:714254660 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0100522 RGD:8554872 IAGP RGD:714256667 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314240 PKN3 HP:0100615 RGD:8554872 IAGP RGD:714254660 H protein kinase N3 gene taxon:9606 20260519 ClinVar RGD 1314242 PTPRB HP:0002861 RGD:8554872 IAGP RGD:714073157 H protein tyrosine phosphatase receptor type B gene taxon:9606 20260519 ClinVar RGD 1314242 PTPRB HP:0012126 RGD:8554872 IAGP RGD:713797315 H protein tyrosine phosphatase receptor type B gene taxon:9606 20260519 ClinVar RGD 1314242 PTPRB HP:0030153 RGD:8554872 IAGP RGD:714072689 H protein tyrosine phosphatase receptor type B gene taxon:9606 20260519 ClinVar RGD 1314242 PTPRB HP:0030153 RGD:8554872 IAGP RGD:714073012 H protein tyrosine phosphatase receptor type B gene taxon:9606 20260519 ClinVar RGD 1314242 PTPRB HP:0100242 RGD:8554872 IAGP RGD:714072727 H protein tyrosine phosphatase receptor type B gene taxon:9606 20260519 ClinVar RGD 1314242 PTPRB HP:0100242 RGD:8554872 IAGP RGD:714072906 H protein tyrosine phosphatase receptor type B gene taxon:9606 20260519 ClinVar RGD 1314242 PTPRB HP:0100242 RGD:8554872 IAGP RGD:8634867 H protein tyrosine phosphatase receptor type B gene taxon:9606 20260519 ClinVar RGD 1314242 PTPRB HP:0100522 RGD:8554872 IAGP RGD:713658543 H protein tyrosine phosphatase receptor type B gene taxon:9606 20260519 ClinVar RGD 1314242 PTPRB HP:0100522 RGD:8554872 IAGP RGD:714072922 H protein tyrosine phosphatase receptor type B gene taxon:9606 20260519 ClinVar RGD 1314242 PTPRB HP:0100522 RGD:8554872 IAGP RGD:714073130 H protein tyrosine phosphatase receptor type B gene taxon:9606 20260519 ClinVar RGD 1314242 PTPRB HP:0100526 RGD:8554872 IAGP RGD:714072949 H protein tyrosine phosphatase receptor type B gene taxon:9606 20260519 ClinVar RGD 1314245 ZFPM1 HP:0001402 RGD:8554872 IAGP RGD:713357221 H zinc finger protein, FOG family member 1 gene taxon:9606 20260519 ClinVar RGD 1314245 ZFPM1 HP:0001627 PMID:25741868|RGD:8554872 IAGP RGD:405669385 H zinc finger protein, FOG family member 1 gene taxon:9606 20260519 ClinVar RGD 1314245 ZFPM1 HP:0004808 RGD:8554872 IAGP RGD:713676068 H zinc finger protein, FOG family member 1 gene taxon:9606 20260519 ClinVar RGD 1314245 ZFPM1 HP:0006770 RGD:8554872 IAGP RGD:713998774 H zinc finger protein, FOG family member 1 gene taxon:9606 20260519 ClinVar RGD 1314245 ZFPM1 HP:0012126 RGD:8554872 IAGP RGD:714133331 H zinc finger protein, FOG family member 1 gene taxon:9606 20260519 ClinVar RGD 1314247 SLC24A4 HP:0000007 MIM:210750|MIM:615887|PMID:23375655|RGD:8699517 IAGP H solute carrier family 24 member 4 gene taxon:9606 20260209 HPO RGD 1314247 SLC24A4 HP:0000670 MIM:615887|PMID:24621671|RGD:8699517 IAGP H solute carrier family 24 member 4 gene taxon:9606 20250912 HPO RGD 1314247 SLC24A4 HP:0000705 MIM:615887|PMID:23375655|PMID:24621671|RGD:8699517 IAGP H solute carrier family 24 member 4 gene taxon:9606 20250912 HPO RGD 1314247 SLC24A4 HP:0000705 RGD:8554872 IAGP RGD:152983380 H solute carrier family 24 member 4 gene taxon:9606 20220607 ClinVar RGD 1314247 SLC24A4 HP:0001402 RGD:8554872 IAGP RGD:150333576 H solute carrier family 24 member 4 gene taxon:9606 20260519 ClinVar RGD 1314247 SLC24A4 HP:0001595 MIM:210750|RGD:8699517 IAGP H solute carrier family 24 member 4 gene taxon:9606 20260209 HPO RGD 1314247 SLC24A4 HP:0002164 MIM:615887|PMID:24621671|RGD:8699517 IAGP H solute carrier family 24 member 4 gene taxon:9606 20250912 HPO RGD 1314247 SLC24A4 HP:0004808 RGD:8554872 IAGP RGD:714163911 H solute carrier family 24 member 4 gene taxon:9606 20260519 ClinVar RGD 1314247 SLC24A4 HP:0004808 RGD:8554872 IAGP RGD:714163917 H solute carrier family 24 member 4 gene taxon:9606 20260519 ClinVar RGD 1314247 SLC24A4 HP:0004808 RGD:8554872 IAGP RGD:714163924 H solute carrier family 24 member 4 gene taxon:9606 20260519 ClinVar RGD 1314247 SLC24A4 HP:0006286 MIM:615887|PMID:23375655|PMID:24621671|RGD:8699517 IAGP H solute carrier family 24 member 4 gene taxon:9606 20250912 HPO RGD 1314247 SLC24A4 HP:0011463 MIM:615887|PMID:24621671|RGD:8699517 IAGP H solute carrier family 24 member 4 gene taxon:9606 20250912 HPO RGD 1314247 SLC24A4 HP:0012126 RGD:8554872 IAGP RGD:713957001 H solute carrier family 24 member 4 gene taxon:9606 20260519 ClinVar RGD 1314247 SLC24A4 HP:0030153 RGD:8554872 IAGP RGD:150333576 H solute carrier family 24 member 4 gene taxon:9606 20260519 ClinVar RGD 1314247 SLC24A4 HP:0030153 RGD:8554872 IAGP RGD:150454198 H solute carrier family 24 member 4 gene taxon:9606 20260519 ClinVar RGD 1314247 SLC24A4 HP:0100526 RGD:8554872 IAGP RGD:714163917 H solute carrier family 24 member 4 gene taxon:9606 20260519 ClinVar RGD 1314248 BAZ1B HP:0000010 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000014 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000015 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000023 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000025 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000028 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000044 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000075 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000076 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000083 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000089 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000093 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000121 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000125 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000147 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000154 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000158 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000179 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000212 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000232 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000252 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000275 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000280 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000286 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000307 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000337 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000343 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000347 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000348 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000358 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20240815 HPO RGD 1314248 BAZ1B HP:0000389 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000400 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000407 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000411 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000431 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000464 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000485 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000486 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000501 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000505 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000518 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000545 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000581 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000627 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000632 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000635 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000668 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000670 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000682 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000689 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000691 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000716 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000717 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000722 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000739 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000767 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000787 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000821 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000822 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000826 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000938 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000939 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0000960 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001052 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001081 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001136 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001181 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001231 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001249 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001251 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001252 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001257 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001260 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001288 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001297 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001310 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001337 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001347 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001361 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001382 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20240118 HPO RGD 1314248 BAZ1B HP:0001387 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001402 RGD:8554872 IAGP RGD:713991027 H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20260519 ClinVar RGD 1314248 BAZ1B HP:0001402 RGD:8554872 IAGP RGD:714083955 H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20260519 ClinVar RGD 1314248 BAZ1B HP:0001513 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001531 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001537 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001582 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001608 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001609 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001618 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001626 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001629 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001631 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001634 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001635 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001636 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001639 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001640 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001642 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001643 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001645 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001647 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001653 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001658 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001671 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001763 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001800 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001822 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0001969 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002017 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002019 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002020 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002024 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002027 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002035 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002071 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002120 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002141 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002150 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002167 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002183 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002205 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002253 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002308 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002376 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002575 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002623 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002637 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002644 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002650 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002750 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002808 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002829 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002857 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002861 RGD:8554872 IAGP RGD:713646979 H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20260519 ClinVar RGD 1314248 BAZ1B HP:0002974 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0002999 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0003028 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0003072 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0003119 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0003196 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0003198 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0003236 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0003298 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0003307 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0003312 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0003422 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0004209 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0004295 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0004305 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0004306 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0004322 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0004381 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0004398 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0004428 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0004808 RGD:8554872 IAGP RGD:713599394 H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20260519 ClinVar RGD 1314248 BAZ1B HP:0004969 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0005113 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0005344 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0005562 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0005978 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0006482 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0006770 RGD:8554872 IAGP RGD:713991027 H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20260519 ClinVar RGD 1314248 BAZ1B HP:0007018 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0007372 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0007477 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0007495 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0007720 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0007957 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0008053 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0008499 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0008661 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0008736 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0010526 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0010662 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0010669 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0010780 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0010807 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0010880 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0011001 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0011797 RGD:8554872 IAGP RGD:713987861 H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20260519 ClinVar RGD 1314248 BAZ1B HP:0012126 RGD:8554872 IAGP RGD:713664480 H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20260519 ClinVar RGD 1314248 BAZ1B HP:0012433 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0012639 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0100025 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0100240 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0100539 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0100545 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0100613 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0100659 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0100785 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0100817 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314248 BAZ1B HP:0200021 ORPHA:904|RGD:8699517 IAGP H bromodomain adjacent to zinc finger domain 1B gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0000006 MIM:116860|PMID:10545614|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20250912 HPO RGD 1314251 KRIT1 HP:0000252 PMID:25741868|RGD:8554872 IAGP RGD:243050634 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0000872 PMID:28492532|RGD:8554872 IAGP RGD:11603958 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0000872 PMID:28492532|RGD:8554872 IAGP RGD:11607130 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0000951 MIM:116860|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0001028 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0001048 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20240815 HPO RGD 1314251 KRIT1 HP:0001048 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16571644|PMID:20301470|PMID:23595507|PMID:23828392|PMID:24689081|PMID:25741868|PMID:27462358|PMID:28492532|PMID:29593473|PMID:36629374|RGD:8554872 IAGP RGD:26893064 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0001048 PMID:10508515|PMID:11222804|PMID:12404106|PMID:23595507|PMID:24689081|PMID:25741868|PMID:28492532|PMID:31254430|RGD:8554872 IAGP RGD:13828195 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0001048 PMID:25741868|RGD:8554872 IAGP RGD:13612492 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0001250 MIM:116860|ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20250416 HPO RGD 1314251 KRIT1 HP:0001250 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16571644|PMID:20301470|PMID:23595507|PMID:23828392|PMID:24689081|PMID:25741868|PMID:27462358|PMID:28492532|PMID:29593473|PMID:36629374|RGD:8554872 IAGP RGD:26893064 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0001250 PMID:25741868|RGD:8554872 IAGP RGD:11559825 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:11603958 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0001250 PMID:28492532|RGD:8554872 IAGP RGD:11607130 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:243050634 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0001324 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20240815 HPO RGD 1314251 KRIT1 HP:0001342 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0001357 PMID:25741868|RGD:8554872 IAGP RGD:243050634 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0001402 RGD:8554872 IAGP RGD:713665869 H KRIT1 ankyrin repeat containing gene taxon:9606 20260707 ClinVar RGD 1314251 KRIT1 HP:0002170 MIM:116860|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0002194 PMID:25741868|RGD:8554872 IAGP RGD:14979099 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0002315 MIM:116860|ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20250416 HPO RGD 1314251 KRIT1 HP:0002514 MIM:116860|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0002514 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16571644|PMID:20301470|PMID:23595507|PMID:23828392|PMID:24689081|PMID:25741868|PMID:27462358|PMID:28492532|PMID:29593473|PMID:36629374|RGD:8554872 IAGP RGD:26893064 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0002516 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0002558 PMID:25741868|RGD:8554872 IAGP RGD:243050634 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0002572 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0002624 PMID:25741868|PMID:36629374|RGD:8554872 IAGP RGD:596942388 H KRIT1 ankyrin repeat containing gene taxon:9606 20260707 ClinVar RGD 1314251 KRIT1 HP:0002650 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0002665 RGD:8554872 IAGP RGD:713596955 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0002686 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13817999 H KRIT1 ankyrin repeat containing gene taxon:9606 20260602 ClinVar RGD 1314251 KRIT1 HP:0002858 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0002861 RGD:8554872 IAGP RGD:713655021 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0003011 MIM:116860|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0003401 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20240815 HPO RGD 1314251 KRIT1 HP:0003829 MIM:116860|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0004808 RGD:8554872 IAGP RGD:713596976 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0004808 RGD:8554872 IAGP RGD:713603676 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0006576 MIM:116860|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0006770 RGD:8554872 IAGP RGD:714122777 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0007797 MIM:116860|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0007872 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0008897 PMID:25741868|RGD:8554872 IAGP RGD:243050634 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0009588 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20240815 HPO RGD 1314251 KRIT1 HP:0009592 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20240815 HPO RGD 1314251 KRIT1 HP:0010512 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20240815 HPO RGD 1314251 KRIT1 HP:0011276 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0011513 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0011797 RGD:8554872 IAGP RGD:713603659 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0012126 RGD:8554872 IAGP RGD:713665855 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0012126 RGD:8554872 IAGP RGD:713665869 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0012481 PMID:25741868|RGD:8554872 IAGP RGD:11559825 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0012721 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0012748 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0012749 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0030153 RGD:8554872 IAGP RGD:155677900 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0030153 RGD:8554872 IAGP RGD:713655042 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0030430 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0030650 PMID:25741868|RGD:8554872 IAGP RGD:11559825 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 MIM:116860|ORPHA:221061|PMID:10545614|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20250912 HPO RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:10545614|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:27792856|PMID:28492532|RGD:8554872 IAGP RGD:150409812 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:10545614|PMID:11222804|PMID:12404106|PMID:24689081|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13828152 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:10545614|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:404993076 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11161805|PMID:11222804|PMID:12404106|PMID:14755725|PMID:17562932|PMID:23595507|PMID:24689081|PMID:25741868|PMID:27792856|PMID:28492532|PMID:30161288|PMID:33651268|RGD:8554872 IAGP RGD:156058776 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11161805|PMID:11222804|PMID:12404106|PMID:20301470|PMID:24689081|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11560205 H KRIT1 ankyrin repeat containing gene taxon:9606 20240507 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:11914398|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:13436115 H KRIT1 ankyrin repeat containing gene taxon:9606 20220607 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:11914398|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:597891771 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:11914398|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:714220765 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:12854741|PMID:16199547|PMID:24689081|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13828142 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:12854741|PMID:16199547|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:13469772 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:12854741|PMID:21029238|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:404993111 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:12854741|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:714213731 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:12882686|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:597891778 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:14755725|PMID:16199547|PMID:24689081|PMID:28492532|PMID:31254430|RGD:8554872 IAGP RGD:155794790 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:14755725|PMID:16199547|PMID:24689081|PMID:28492532|PMID:31254430|RGD:8554872 IAGP RGD:155998741 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:15079030|PMID:16199547|PMID:23595507|PMID:28492532|RGD:8554872 IAGP RGD:13477154 H KRIT1 ankyrin repeat containing gene taxon:9606 20240403 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:25741868|PMID:27792856|PMID:28492532|RGD:8554872 IAGP RGD:11559774 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:25741868|PMID:27792856|PMID:28492532|RGD:8554872 IAGP RGD:13828147 H KRIT1 ankyrin repeat containing gene taxon:9606 20240403 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:28492532|PMID:28645800|RGD:8554872 IAGP RGD:26891920 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:28492532|PMID:28645800|RGD:8554872 IAGP RGD:405095874 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:28492532|PMID:28745674|RGD:8554872 IAGP RGD:38460233 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:28492532|PMID:30161288|RGD:8554872 IAGP RGD:405871611 H KRIT1 ankyrin repeat containing gene taxon:9606 20240709 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151727429 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151828642 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151884931 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151887836 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:155266786 H KRIT1 ankyrin repeat containing gene taxon:9606 20240403 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:156008389 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:405073989 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:597898509 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16199547|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:713397084 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16571644|PMID:20301470|PMID:23595507|PMID:23828392|PMID:24689081|PMID:25741868|PMID:27462358|PMID:28492532|PMID:29593473|PMID:36629374|RGD:8554872 IAGP RGD:26893064 H KRIT1 ankyrin repeat containing gene taxon:9606 20250408 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:16571644|PMID:24466005|PMID:24689081|PMID:25741868|PMID:28492532|PMID:29593473|RGD:8554872 IAGP RGD:152979710 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:17345049|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:597891766 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:17345049|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:714213746 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:17440989|PMID:24689081|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13592900 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:18060436|PMID:23595507|PMID:28492532|RGD:8554872 IAGP RGD:127249387 H KRIT1 ankyrin repeat containing gene taxon:9606 20240709 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:18300272|PMID:24689081|PMID:28492532|PMID:31254430|RGD:8554872 IAGP RGD:404993093 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:18383588|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:13520343 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:19099113|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151827455 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:156304990 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:597958412 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:20306072|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:156253835 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:21029238|PMID:23595507|PMID:24689081|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13828176 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:21029238|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:404993132 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:23595507|PMID:24689081|PMID:25741868|PMID:28492532|PMID:31254430|RGD:8554872 IAGP RGD:13828195 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:23595507|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:127253198 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:23595507|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151858192 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:23595507|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:404993101 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:24721395|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13498897 H KRIT1 ankyrin repeat containing gene taxon:9606 20231212 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:25413039|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33136154|RGD:8554872 IAGP RGD:13828179 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28000143|PMID:28492532|RGD:8554872 IAGP RGD:151757189 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|PMID:30161288|RGD:8554872 IAGP RGD:127236867 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|PMID:30161288|RGD:8554872 IAGP RGD:151716657 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|PMID:30161288|RGD:8554872 IAGP RGD:714184754 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|PMID:36580209|RGD:8554872 IAGP RGD:597881265 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:127236250 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:127245270 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:127245305 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:127260341 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:127260491 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:127260852 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:127261216 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:127261222 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:127263624 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:127263903 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:127269365 H KRIT1 ankyrin repeat containing gene taxon:9606 20230307 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:12893344 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:13477334 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:13479945 H KRIT1 ankyrin repeat containing gene taxon:9606 20220607 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:13485930 H KRIT1 ankyrin repeat containing gene taxon:9606 20240403 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:13503475 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:13611522 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:13616140 H KRIT1 ankyrin repeat containing gene taxon:9606 20230307 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:14394214 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:14396122 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:14707767 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:14709887 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:14713719 H KRIT1 ankyrin repeat containing gene taxon:9606 20220607 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:14738842 H KRIT1 ankyrin repeat containing gene taxon:9606 20220607 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:14739612 H KRIT1 ankyrin repeat containing gene taxon:9606 20220607 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151713734 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151726526 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151731587 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151742713 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151783724 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151785724 H KRIT1 ankyrin repeat containing gene taxon:9606 20230307 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151791773 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151808001 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151809055 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151822245 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151836779 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151839164 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151867593 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151871789 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151882458 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151884596 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151885235 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:151887820 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:155906733 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:155909435 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:155914168 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:155952695 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:155972827 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:156029579 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:156054141 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:156060230 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:156079333 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:156082069 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:156110332 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:156145640 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:156330101 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:156330136 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:156394314 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:26893984 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:26897326 H KRIT1 ankyrin repeat containing gene taxon:9606 20240312 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:26908376 H KRIT1 ankyrin repeat containing gene taxon:9606 20220607 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:26917239 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:26919235 H KRIT1 ankyrin repeat containing gene taxon:9606 20240312 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:26921158 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:26921212 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:26922182 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:38460035 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:38461854 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:38462101 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:38474606 H KRIT1 ankyrin repeat containing gene taxon:9606 20240312 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:38478260 H KRIT1 ankyrin repeat containing gene taxon:9606 20240312 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:404988405 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:404989736 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:404993084 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:404993122 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:405052102 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:405062907 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:405068544 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:405070512 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:405072505 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:405073027 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:405074860 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:405076588 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:405076762 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:405080374 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:405090936 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:405092251 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:405136038 H KRIT1 ankyrin repeat containing gene taxon:9606 20240403 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:597867735 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:597878949 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:597884495 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:597891488 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:597903363 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:597908864 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:597937940 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:597942274 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:597950734 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:713380364 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:713641198 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:713649818 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:714104448 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:714178457 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:714222955 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:714226654 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:714252906 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:714253530 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:714255008 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:8558882 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:8558884 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:28492532|RGD:8554872 IAGP RGD:13483337 H KRIT1 ankyrin repeat containing gene taxon:9606 20220607 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:28492532|RGD:8554872 IAGP RGD:13803484 H KRIT1 ankyrin repeat containing gene taxon:9606 20240312 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:28492532|RGD:8554872 IAGP RGD:13812117 H KRIT1 ankyrin repeat containing gene taxon:9606 20240312 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:11222804|PMID:12404106|PMID:28492532|RGD:8554872 IAGP RGD:14730806 H KRIT1 ankyrin repeat containing gene taxon:9606 20220607 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:10508515|PMID:25741868|PMID:28492532|PMID:31254430|RGD:8554872 IAGP RGD:13828167 H KRIT1 ankyrin repeat containing gene taxon:9606 20240403 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:11914398|PMID:11941540|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8558889 H KRIT1 ankyrin repeat containing gene taxon:9606 20260602 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:11959162|PMID:28492532|RGD:8554872 IAGP RGD:38460463 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:12404106|PMID:23595507|PMID:28492532|RGD:8554872 IAGP RGD:13473904 H KRIT1 ankyrin repeat containing gene taxon:9606 20220607 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:12404106|PMID:23595507|PMID:28492532|RGD:8554872 IAGP RGD:13493428 H KRIT1 ankyrin repeat containing gene taxon:9606 20220607 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:12404106|PMID:24466005|PMID:28492532|RGD:8554872 IAGP RGD:405871597 H KRIT1 ankyrin repeat containing gene taxon:9606 20240709 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:12404106|PMID:28492532|RGD:8554872 IAGP RGD:12848992 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:12404106|PMID:28492532|RGD:8554872 IAGP RGD:151722107 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:12810002|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13828129 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:15079030|PMID:28492532|RGD:8554872 IAGP RGD:40888390 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:16321204|PMID:18380023|PMID:28492532|RGD:8554872 IAGP RGD:151784921 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:16321204|PMID:18380023|PMID:28492532|RGD:8554872 IAGP RGD:26918164 H KRIT1 ankyrin repeat containing gene taxon:9606 20240312 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:16571644|PMID:25741868|PMID:29593473|RGD:8554872 IAGP RGD:152046135 H KRIT1 ankyrin repeat containing gene taxon:9606 20230110 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:16571644|PMID:25741868|PMID:29593473|RGD:8554872 IAGP RGD:155798234 H KRIT1 ankyrin repeat containing gene taxon:9606 20230110 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17277691|PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151725227 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17576681|PMID:18300272|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:156015523 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17576681|PMID:23595507|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:26921503 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17576681|PMID:23595507|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:404993068 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13817999 H KRIT1 ankyrin repeat containing gene taxon:9606 20260602 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:156242992 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13492831 H KRIT1 ankyrin repeat containing gene taxon:9606 20240403 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13495727 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:13806752 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:14727375 H KRIT1 ankyrin repeat containing gene taxon:9606 20220607 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151889234 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:156206696 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:405093347 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:405093922 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:405136381 H KRIT1 ankyrin repeat containing gene taxon:9606 20240403 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:17576681|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:713388804 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:19454328|RGD:8554872 IAGP RGD:8558892 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:20351573|PMID:28492532|PMID:30161288|PMID:32285596|RGD:8554872 IAGP RGD:714184766 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:20419355|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:11543380 H KRIT1 ankyrin repeat containing gene taxon:9606 20210706 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:23595507|PMID:28492532|RGD:8554872 IAGP RGD:13475634 H KRIT1 ankyrin repeat containing gene taxon:9606 20240403 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:24007869|PMID:28492532|RGD:8554872 IAGP RGD:8558890 H KRIT1 ankyrin repeat containing gene taxon:9606 20260602 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:24466005|PMID:28492532|RGD:8554872 IAGP RGD:156132471 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:24689081|PMID:28492532|RGD:8554872 IAGP RGD:13471663 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25525273|PMID:28492532|RGD:8554872 IAGP RGD:12849321 H KRIT1 ankyrin repeat containing gene taxon:9606 20241112 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25525273|RGD:8554872 IAGP RGD:28908729 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25640679|PMID:28492532|RGD:8554872 IAGP RGD:13497563 H KRIT1 ankyrin repeat containing gene taxon:9606 20240709 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25640679|PMID:28492532|RGD:8554872 IAGP RGD:405871607 H KRIT1 ankyrin repeat containing gene taxon:9606 20240709 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11545582 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11547959 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11549595 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11551880 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11602284 H KRIT1 ankyrin repeat containing gene taxon:9606 20241008 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151762220 H KRIT1 ankyrin repeat containing gene taxon:9606 20250211 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:156026972 H KRIT1 ankyrin repeat containing gene taxon:9606 20230411 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401876243 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:405065768 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|PMID:28645800|RGD:8554872 IAGP RGD:13516653 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|PMID:28645800|RGD:8554872 IAGP RGD:13523630 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|PMID:36629374|RGD:8554872 IAGP RGD:596942388 H KRIT1 ankyrin repeat containing gene taxon:9606 20260707 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:11559825 H KRIT1 ankyrin repeat containing gene taxon:9606 20220208 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:11559965 H KRIT1 ankyrin repeat containing gene taxon:9606 20230411 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:11601726 H KRIT1 ankyrin repeat containing gene taxon:9606 20240409 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:150438140 H KRIT1 ankyrin repeat containing gene taxon:9606 20211012 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:150557033 H KRIT1 ankyrin repeat containing gene taxon:9606 20220104 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:151348849 H KRIT1 ankyrin repeat containing gene taxon:9606 20220208 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:151663057 H KRIT1 ankyrin repeat containing gene taxon:9606 20220308 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:155643543 H KRIT1 ankyrin repeat containing gene taxon:9606 20221108 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:155643869 H KRIT1 ankyrin repeat containing gene taxon:9606 20221108 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:155694717 H KRIT1 ankyrin repeat containing gene taxon:9606 20250211 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:243058470 H KRIT1 ankyrin repeat containing gene taxon:9606 20230411 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:329351384 H KRIT1 ankyrin repeat containing gene taxon:9606 20230509 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:38460908 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:38461994 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:38598109 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:401750505 H KRIT1 ankyrin repeat containing gene taxon:9606 20240109 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:401859849 H KRIT1 ankyrin repeat containing gene taxon:9606 20231107 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:405282112 H KRIT1 ankyrin repeat containing gene taxon:9606 20240507 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:405867692 H KRIT1 ankyrin repeat containing gene taxon:9606 20240709 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:405869429 H KRIT1 ankyrin repeat containing gene taxon:9606 20240709 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:407574700 H KRIT1 ankyrin repeat containing gene taxon:9606 20241008 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:408383126 H KRIT1 ankyrin repeat containing gene taxon:9606 20241112 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:408394439 H KRIT1 ankyrin repeat containing gene taxon:9606 20241112 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:597631014 H KRIT1 ankyrin repeat containing gene taxon:9606 20250211 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:598172416 H KRIT1 ankyrin repeat containing gene taxon:9606 20250513 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:598200176 H KRIT1 ankyrin repeat containing gene taxon:9606 20250506 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:598216373 H KRIT1 ankyrin repeat containing gene taxon:9606 20250506 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:598243027 H KRIT1 ankyrin repeat containing gene taxon:9606 20250506 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:617152076 H KRIT1 ankyrin repeat containing gene taxon:9606 20250708 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:713496852 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:713569076 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:736707938 H KRIT1 ankyrin repeat containing gene taxon:9606 20260707 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:25741868|RGD:8554872 IAGP RGD:736707948 H KRIT1 ankyrin repeat containing gene taxon:9606 20260707 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:41407184 H KRIT1 ankyrin repeat containing gene taxon:9606 20240403 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|PMID:31124307|RGD:8554872 IAGP RGD:156443577 H KRIT1 ankyrin repeat containing gene taxon:9606 20230307 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|PMID:33651268|PMID:33891857|RGD:8554872 IAGP RGD:150529905 H KRIT1 ankyrin repeat containing gene taxon:9606 20240312 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:11603958 H KRIT1 ankyrin repeat containing gene taxon:9606 20241112 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:11607130 H KRIT1 ankyrin repeat containing gene taxon:9606 20241112 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:126730067 H KRIT1 ankyrin repeat containing gene taxon:9606 20210406 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:127235743 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:127241865 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:127249381 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:127260927 H KRIT1 ankyrin repeat containing gene taxon:9606 20210608 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:127298200 H KRIT1 ankyrin repeat containing gene taxon:9606 20210706 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:13472203 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:13475082 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:13475308 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:13476813 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:13478233 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:13809150 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:13814504 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:15103332 H KRIT1 ankyrin repeat containing gene taxon:9606 20210706 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:15105404 H KRIT1 ankyrin repeat containing gene taxon:9606 20241112 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:15111301 H KRIT1 ankyrin repeat containing gene taxon:9606 20240403 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:15115394 H KRIT1 ankyrin repeat containing gene taxon:9606 20241112 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:15115430 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:15126119 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:15132384 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:151709360 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:151712848 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:151748601 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:151764817 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:151771327 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:151773138 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:151779568 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:151809029 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:151812497 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:151821373 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:151833988 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:151852630 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:151867203 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:151878057 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:151889017 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:15191561 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:152027924 H KRIT1 ankyrin repeat containing gene taxon:9606 20220510 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:152074504 H KRIT1 ankyrin repeat containing gene taxon:9606 20220510 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:152079481 H KRIT1 ankyrin repeat containing gene taxon:9606 20220510 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:152121834 H KRIT1 ankyrin repeat containing gene taxon:9606 20220510 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:152132995 H KRIT1 ankyrin repeat containing gene taxon:9606 20220510 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:152137145 H KRIT1 ankyrin repeat containing gene taxon:9606 20220510 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:152144524 H KRIT1 ankyrin repeat containing gene taxon:9606 20220510 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:152145706 H KRIT1 ankyrin repeat containing gene taxon:9606 20220510 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:152162889 H KRIT1 ankyrin repeat containing gene taxon:9606 20220510 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:155687981 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:155705979 H KRIT1 ankyrin repeat containing gene taxon:9606 20240403 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:155712730 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:155962780 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:155988576 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156096348 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156119616 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156119676 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156148092 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156193484 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156203045 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156220952 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156236098 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156321018 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156345445 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156345656 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156384038 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156402491 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156403664 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156441704 H KRIT1 ankyrin repeat containing gene taxon:9606 20230307 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156443576 H KRIT1 ankyrin repeat containing gene taxon:9606 20230307 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:156443578 H KRIT1 ankyrin repeat containing gene taxon:9606 20230307 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:243051347 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:26892485 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:28871125 H KRIT1 ankyrin repeat containing gene taxon:9606 20230214 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:28871130 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:38463418 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:38495076 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:38496647 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:38499669 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:401893594 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:402512155 H KRIT1 ankyrin repeat containing gene taxon:9606 20240312 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:404987178 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405060195 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405063762 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405072056 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405073130 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405074037 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405074932 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405075609 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405077945 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405078624 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405078886 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405080465 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405082139 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405083957 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405087622 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405090295 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405090650 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405091928 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405092764 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405093594 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405093665 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405094111 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405096101 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405096187 H KRIT1 ankyrin repeat containing gene taxon:9606 20240319 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405181769 H KRIT1 ankyrin repeat containing gene taxon:9606 20240403 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405275591 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405817169 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405871590 H KRIT1 ankyrin repeat containing gene taxon:9606 20240709 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:405871594 H KRIT1 ankyrin repeat containing gene taxon:9606 20240709 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597849879 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597858045 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597867475 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597871148 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597875830 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597880696 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597884924 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597886958 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597902673 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597908285 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597914815 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597916352 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597923302 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597926917 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597929130 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597939874 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597942499 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597948215 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597957124 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597963404 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:597975728 H KRIT1 ankyrin repeat containing gene taxon:9606 20250311 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:713917612 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:713948239 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:713950340 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:714092554 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:714095109 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:714102047 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:714149477 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:714150166 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:714180503 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:714185762 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:714192606 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:714210267 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:714245202 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 PMID:28492532|RGD:8554872 IAGP RGD:714246990 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11589255 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11599133 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11600262 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11600563 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11601158 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11602137 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11602440 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11602811 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11603301 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11604905 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11605659 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11605978 H KRIT1 ankyrin repeat containing gene taxon:9606 20241112 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11606313 H KRIT1 ankyrin repeat containing gene taxon:9606 20250729 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11606844 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11606851 H KRIT1 ankyrin repeat containing gene taxon:9606 20250729 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11635291 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11645281 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11645420 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11645703 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11646006 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11646376 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11646803 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11647967 H KRIT1 ankyrin repeat containing gene taxon:9606 20250729 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11650374 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11650753 H KRIT1 ankyrin repeat containing gene taxon:9606 20250729 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11651761 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11652583 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11653398 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:11658851 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:13534245 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:13797948 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:151727753 H KRIT1 ankyrin repeat containing gene taxon:9606 20220420 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:155794792 H KRIT1 ankyrin repeat containing gene taxon:9606 20230110 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:21072277 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28867273 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28867275 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28867278 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28867458 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28867460 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28869905 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28869910 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28869915 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28870180 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28870186 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28870663 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28870880 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28870886 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28871118 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28874282 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28874285 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28874547 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28905695 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28905922 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28906116 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28906315 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28906490 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28908513 H KRIT1 ankyrin repeat containing gene taxon:9606 20210323 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28908929 H KRIT1 ankyrin repeat containing gene taxon:9606 20250729 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:28908934 H KRIT1 ankyrin repeat containing gene taxon:9606 20250729 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:39456976 H KRIT1 ankyrin repeat containing gene taxon:9606 20220607 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:596944377 H KRIT1 ankyrin repeat containing gene taxon:9606 20250107 ClinVar RGD 1314251 KRIT1 HP:0033522 RGD:8554872 IAGP RGD:8558887 H KRIT1 ankyrin repeat containing gene taxon:9606 20260602 ClinVar RGD 1314251 KRIT1 HP:0033748 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20240815 HPO RGD 1314251 KRIT1 HP:0100242 RGD:8554872 IAGP RGD:713655077 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0100526 RGD:8554872 IAGP RGD:713654967 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0100526 RGD:8554872 IAGP RGD:713654978 H KRIT1 ankyrin repeat containing gene taxon:9606 20260519 ClinVar RGD 1314251 KRIT1 HP:0100543 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0100561 ORPHA:221061|RGD:8699517 IAGP H KRIT1 ankyrin repeat containing gene taxon:9606 20230821 HPO RGD 1314251 KRIT1 HP:0100659 PMID:25741868|RGD:8554872 IAGP RGD:598128722 H KRIT1 ankyrin repeat containing gene taxon:9606 20250408 ClinVar RGD 1314253 ENTR1 HP:0003003 RGD:8554872 IAGP RGD:713814617 H endosome associated trafficking regulator 1 gene taxon:9606 20260519 ClinVar RGD 1314253 ENTR1 HP:0004808 RGD:8554872 IAGP RGD:714255221 H endosome associated trafficking regulator 1 gene taxon:9606 20260519 ClinVar RGD 1314253 ENTR1 HP:0012126 RGD:8554872 IAGP RGD:713721719 H endosome associated trafficking regulator 1 gene taxon:9606 20260519 ClinVar RGD 1314253 ENTR1 HP:0012126 RGD:8554872 IAGP RGD:713721735 H endosome associated trafficking regulator 1 gene taxon:9606 20260519 ClinVar RGD 1314253 ENTR1 HP:0012126 RGD:8554872 IAGP RGD:713983843 H endosome associated trafficking regulator 1 gene taxon:9606 20260519 ClinVar RGD 1314253 ENTR1 HP:0012126 RGD:8554872 IAGP RGD:713983859 H endosome associated trafficking regulator 1 gene taxon:9606 20260519 ClinVar RGD 1314253 ENTR1 HP:0012126 RGD:8554872 IAGP RGD:714255221 H endosome associated trafficking regulator 1 gene taxon:9606 20260519 ClinVar RGD 1314253 ENTR1 HP:0030153 RGD:8554872 IAGP RGD:713721780 H endosome associated trafficking regulator 1 gene taxon:9606 20260519 ClinVar RGD 1314253 ENTR1 HP:0100242 RGD:8554872 IAGP RGD:713721780 H endosome associated trafficking regulator 1 gene taxon:9606 20260519 ClinVar RGD 1314253 ENTR1 HP:0100242 RGD:8554872 IAGP RGD:713721814 H endosome associated trafficking regulator 1 gene taxon:9606 20260519 ClinVar RGD 1314253 ENTR1 HP:0100242 RGD:8554872 IAGP RGD:714255221 H endosome associated trafficking regulator 1 gene taxon:9606 20260519 ClinVar RGD 1314253 ENTR1 HP:0100522 RGD:8554872 IAGP RGD:713721780 H endosome associated trafficking regulator 1 gene taxon:9606 20260519 ClinVar RGD 1314253 ENTR1 HP:0100526 RGD:8554872 IAGP RGD:713565313 H endosome associated trafficking regulator 1 gene taxon:9606 20260519 ClinVar RGD 1314253 ENTR1 HP:0100526 RGD:8554872 IAGP RGD:713721780 H endosome associated trafficking regulator 1 gene taxon:9606 20260519 ClinVar RGD 1314253 ENTR1 HP:0100526 RGD:8554872 IAGP RGD:713721814 H endosome associated trafficking regulator 1 gene taxon:9606 20260707 ClinVar RGD 1314254 ABCA9 HP:0001402 RGD:8554872 IAGP RGD:713359245 H ATP binding cassette subfamily A member 9 gene taxon:9606 20260519 ClinVar RGD 1314254 ABCA9 HP:0001402 RGD:8554872 IAGP RGD:713731134 H ATP binding cassette subfamily A member 9 gene taxon:9606 20260519 ClinVar RGD 1314254 ABCA9 HP:0012126 RGD:8554872 IAGP RGD:714266054 H ATP binding cassette subfamily A member 9 gene taxon:9606 20260519 ClinVar RGD 1314254 ABCA9 HP:0100242 RGD:8554872 IAGP RGD:713713673 H ATP binding cassette subfamily A member 9 gene taxon:9606 20260519 ClinVar RGD 1314254 ABCA9 HP:0100242 RGD:8554872 IAGP RGD:714051248 H ATP binding cassette subfamily A member 9 gene taxon:9606 20260519 ClinVar RGD 1314254 ABCA9 HP:0100242 RGD:8554872 IAGP RGD:714051255 H ATP binding cassette subfamily A member 9 gene taxon:9606 20260519 ClinVar RGD 1314254 ABCA9 HP:0100242 RGD:8554872 IAGP RGD:714051262 H ATP binding cassette subfamily A member 9 gene taxon:9606 20260519 ClinVar RGD 1314254 ABCA9 HP:0100242 RGD:8554872 IAGP RGD:714051337 H ATP binding cassette subfamily A member 9 gene taxon:9606 20260519 ClinVar RGD 1314254 ABCA9 HP:0100242 RGD:8554872 IAGP RGD:714266049 H ATP binding cassette subfamily A member 9 gene taxon:9606 20260519 ClinVar RGD 1314254 ABCA9 HP:0100522 RGD:8554872 IAGP RGD:714051350 H ATP binding cassette subfamily A member 9 gene taxon:9606 20260519 ClinVar RGD 1314254 ABCA9 HP:0100526 RGD:8554872 IAGP RGD:714051304 H ATP binding cassette subfamily A member 9 gene taxon:9606 20260519 ClinVar RGD 1314254 ABCA9 HP:0100526 RGD:8554872 IAGP RGD:714051328 H ATP binding cassette subfamily A member 9 gene taxon:9606 20260519 ClinVar RGD 1314267 PLCL2 HP:0001402 RGD:8554872 IAGP RGD:713955914 H phospholipase C like 2 gene taxon:9606 20260519 ClinVar RGD 1314267 PLCL2 HP:0004808 RGD:8554872 IAGP RGD:713957515 H phospholipase C like 2 gene taxon:9606 20260519 ClinVar RGD 1314267 PLCL2 HP:0006770 RGD:8554872 IAGP RGD:713830938 H phospholipase C like 2 gene taxon:9606 20260519 ClinVar RGD 1314267 PLCL2 HP:0006770 RGD:8554872 IAGP RGD:713955914 H phospholipase C like 2 gene taxon:9606 20260519 ClinVar RGD 1314267 PLCL2 HP:0007716 RGD:8554872 IAGP RGD:713955914 H phospholipase C like 2 gene taxon:9606 20260519 ClinVar RGD 1314267 PLCL2 HP:0030153 RGD:8554872 IAGP RGD:713955914 H phospholipase C like 2 gene taxon:9606 20260519 ClinVar RGD 1314267 PLCL2 HP:0100615 RGD:8554872 IAGP RGD:713955914 H phospholipase C like 2 gene taxon:9606 20260519 ClinVar RGD 1314269 RAI14 HP:0001402 RGD:8554872 IAGP RGD:714076035 H retinoic acid induced 14 gene taxon:9606 20260519 ClinVar RGD 1314269 RAI14 HP:0002861 RGD:8554872 IAGP RGD:713869760 H retinoic acid induced 14 gene taxon:9606 20260519 ClinVar RGD 1314269 RAI14 HP:0006770 RGD:8554872 IAGP RGD:713869690 H retinoic acid induced 14 gene taxon:9606 20260519 ClinVar RGD 1314269 RAI14 HP:0011797 RGD:8554872 IAGP RGD:714164650 H retinoic acid induced 14 gene taxon:9606 20260519 ClinVar RGD 1314269 RAI14 HP:0012126 RGD:8554872 IAGP RGD:713787775 H retinoic acid induced 14 gene taxon:9606 20260519 ClinVar RGD 1314269 RAI14 HP:0012126 RGD:8554872 IAGP RGD:713787787 H retinoic acid induced 14 gene taxon:9606 20260519 ClinVar RGD 1314269 RAI14 HP:0012126 RGD:8554872 IAGP RGD:713787801 H retinoic acid induced 14 gene taxon:9606 20260519 ClinVar RGD 1314269 RAI14 HP:0012126 RGD:8554872 IAGP RGD:714162219 H retinoic acid induced 14 gene taxon:9606 20260519 ClinVar RGD 1314269 RAI14 HP:0030153 RGD:8554872 IAGP RGD:713787819 H retinoic acid induced 14 gene taxon:9606 20260519 ClinVar RGD 1314269 RAI14 HP:0030359 RGD:8554872 IAGP RGD:714171325 H retinoic acid induced 14 gene taxon:9606 20260519 ClinVar RGD 1314269 RAI14 HP:0100242 RGD:8554872 IAGP RGD:713869813 H retinoic acid induced 14 gene taxon:9606 20260519 ClinVar RGD 1314269 RAI14 HP:0100522 RGD:8554872 IAGP RGD:713869657 H retinoic acid induced 14 gene taxon:9606 20260519 ClinVar RGD 1314269 RAI14 HP:0100526 RGD:8554872 IAGP RGD:713869860 H retinoic acid induced 14 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0000007 MIM:613960|PMID:19692703|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20250912 HPO RGD 1314271 NCF4 HP:0000118 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11551516 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0000230 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0000246 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0000388 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0000964 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0000964 PMID:28492532|RGD:8554872 IAGP RGD:150545595 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0000992 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0001034 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0001047 PMID:28492532|RGD:8554872 IAGP RGD:150545595 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0001287 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0001402 PMID:25741868|RGD:8554872 IAGP RGD:150477038 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0001508 PMID:28492532|RGD:8554872 IAGP RGD:150545595 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0001744 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0001874 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0001880 PMID:28492532|RGD:8554872 IAGP RGD:150545595 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0001943 PMID:25741868|PMID:28492532|PMID:29454792|PMID:34547651|RGD:8554872 IAGP RGD:11629486 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0001945 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0002014 MIM:613960|PMID:19692703|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20250912 HPO RGD 1314271 NCF4 HP:0002021 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0002024 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0002027 MIM:613960|PMID:19692703|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20250912 HPO RGD 1314271 NCF4 HP:0002205 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0002240 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0002243 PMID:25741868|PMID:28492532|PMID:29454792|PMID:34547651|RGD:8554872 IAGP RGD:11629486 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0002575 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0002583 MIM:613960|PMID:19692703|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20250912 HPO RGD 1314271 NCF4 HP:0002718 PMID:16880254|PMID:19692703|PMID:20167518|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401855612 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0002719 MIM:613960|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0002721 PMID:16880254|PMID:19692703|PMID:20167518|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401855612 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0002841 PMID:16880254|PMID:19692703|PMID:20167518|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:401855612 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0003212 PMID:28492532|RGD:8554872 IAGP RGD:150545595 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0003565 MIM:613960|PMID:19692703|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20250912 HPO RGD 1314271 NCF4 HP:0005218 MIM:613960|PMID:19692703|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20250912 HPO RGD 1314271 NCF4 HP:0006510 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0011107 MIM:613960|PMID:19692703|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20250912 HPO RGD 1314271 NCF4 HP:0011108 MIM:613960|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0011127 MIM:613960|PMID:19692703|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20250912 HPO RGD 1314271 NCF4 HP:0011227 MIM:613960|PMID:19692703|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20250912 HPO RGD 1314271 NCF4 HP:0011463 MIM:613960|PMID:19692703|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20250912 HPO RGD 1314271 NCF4 HP:0012733 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0012758 PMID:25741868|PMID:28492532|PMID:29454792|PMID:34547651|RGD:8554872 IAGP RGD:11629486 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0100242 RGD:8554872 IAGP RGD:713748196 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0100242 RGD:8554872 IAGP RGD:714192259 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0100522 RGD:8554872 IAGP RGD:713748196 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0100522 RGD:8554872 IAGP RGD:714195097 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0100523 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0100526 RGD:8554872 IAGP RGD:713748196 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314271 NCF4 HP:0100533 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0100721 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0100806 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0200042 ORPHA:379|RGD:8699517 IAGP H neutrophil cytosolic factor 4 gene taxon:9606 20230821 HPO RGD 1314271 NCF4 HP:0500093 PMID:28492532|RGD:8554872 IAGP RGD:150545595 H neutrophil cytosolic factor 4 gene taxon:9606 20260519 ClinVar RGD 1314273 MRM2 HP:0000007 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0001250 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0001263 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0001272 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0001285 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0001399 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0001941 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0001987 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0002059 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0002072 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0002133 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0003572 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0003819 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0008347 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0011923 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0012847 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0100248 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314273 MRM2 HP:0100526 RGD:8554872 IAGP RGD:713503349 H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20260519 ClinVar RGD 1314273 MRM2 HP:0100660 MIM:618567|PMID:28973171|RGD:8699517 IAGP H mitochondrial rRNA methyltransferase 2 gene taxon:9606 20250912 HPO RGD 1314275 SLAMF9 HP:0001402 RGD:8554872 IAGP RGD:713755118 H SLAM family member 9 gene taxon:9606 20260519 ClinVar RGD 1314275 SLAMF9 HP:0001402 RGD:8554872 IAGP RGD:713755136 H SLAM family member 9 gene taxon:9606 20260519 ClinVar RGD 1314275 SLAMF9 HP:0002861 RGD:8554872 IAGP RGD:714197004 H SLAM family member 9 gene taxon:9606 20260519 ClinVar RGD 1314275 SLAMF9 HP:0012126 RGD:8554872 IAGP RGD:713777480 H SLAM family member 9 gene taxon:9606 20260519 ClinVar RGD 1314275 SLAMF9 HP:0100526 RGD:8554872 IAGP RGD:714196994 H SLAM family member 9 gene taxon:9606 20260519 ClinVar RGD 1314275 SLAMF9 HP:0100526 RGD:8554872 IAGP RGD:714196997 H SLAM family member 9 gene taxon:9606 20260519 ClinVar RGD 1314279 IFT57 HP:0000007 MIM:617927|PMID:27060890|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20250912 HPO RGD 1314279 IFT57 HP:0000020 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0000191 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0000321 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0000322 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0000350 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0000426 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0000431 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0000548 PMID:25741868|PMID:28492532|PMID:40273360|RGD:8554872 IAGP RGD:598232102 H intraflagellar transport 57 gene taxon:9606 20260519 ClinVar RGD 1314279 IFT57 HP:0000548 PMID:25741868|RGD:8554872 IAGP RGD:598209504 H intraflagellar transport 57 gene taxon:9606 20260519 ClinVar RGD 1314279 IFT57 HP:0000582 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0000699 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0000891 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0000954 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0001156 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0001402 RGD:8554872 IAGP RGD:713747936 H intraflagellar transport 57 gene taxon:9606 20260519 ClinVar RGD 1314279 IFT57 HP:0001852 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0002750 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0002857 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0002861 RGD:8554872 IAGP RGD:714189287 H intraflagellar transport 57 gene taxon:9606 20260519 ClinVar RGD 1314279 IFT57 HP:0004322 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0005819 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0006725 RGD:8554872 IAGP RGD:714189272 H intraflagellar transport 57 gene taxon:9606 20260519 ClinVar RGD 1314279 IFT57 HP:0009882 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0011797 RGD:8554872 IAGP RGD:714048750 H intraflagellar transport 57 gene taxon:9606 20260519 ClinVar RGD 1314279 IFT57 HP:0100258 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0100259 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314279 IFT57 HP:0100526 RGD:8554872 IAGP RGD:714189290 H intraflagellar transport 57 gene taxon:9606 20260519 ClinVar RGD 1314279 IFT57 HP:0410030 MIM:617927|RGD:8699517 IAGP H intraflagellar transport 57 gene taxon:9606 20230821 HPO RGD 1314281 SEC61A2 HP:0004808 RGD:8554872 IAGP RGD:713777644 H SEC61 translocon subunit alpha 2 gene taxon:9606 20260519 ClinVar RGD 1314281 SEC61A2 HP:0100242 RGD:8554872 IAGP RGD:713362916 H SEC61 translocon subunit alpha 2 gene taxon:9606 20260519 ClinVar RGD 1314281 SEC61A2 HP:0100526 RGD:8554872 IAGP RGD:713363032 H SEC61 translocon subunit alpha 2 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000006 MIM:115197|MIM:615396|PMID:21551322|PMID:7493025|RGD:8699517 IAGP H myosin binding protein C3 gene taxon:9606 20250912 HPO RGD 1314284 MYBPC3 HP:0000007 MIM:115197|PMID:16679492|RGD:8699517 IAGP H myosin binding protein C3 gene taxon:9606 20250912 HPO RGD 1314284 MYBPC3 HP:0000093 PMID:25741868|RGD:8554872 IAGP RGD:243052601 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000118 PMID:15114369|PMID:15519027|PMID:18533079|PMID:18957093|PMID:19574547|PMID:22857948|PMID:24033266|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25741868|PMID:27532257|PMID:28492532|PMID:33495596|PMID:33673806|PMID:35411935|PMID:35581268|RGD:8554872 IAGP RGD:8605483 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000218 PMID:25741868|RGD:8554872 IAGP RGD:155267936 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000286 PMID:25741868|RGD:8554872 IAGP RGD:155267936 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000360 PMID:11499718|PMID:12202917|PMID:15519027|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:33495597|PMID:7493025|RGD:8554872 IAGP RGD:8560566 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000407 ORPHA:154|RGD:8699517 IAGP H myosin binding protein C3 gene taxon:9606 20230821 HPO RGD 1314284 MYBPC3 HP:0000411 PMID:11499718|PMID:15519027|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29300372|PMID:29447731|PMID:29907873|PMID:30696458|PMID:30871747|PMID:32746448|PMID:32841044|PMID:33407484|PMID:33782553|PMID:34400558|PMID:35535697|PMID:35626289|PMID:36252119|PMID:36357371|PMID:38104429|PMID:38254962|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39554508|PMID:9562578|RGD:8554872 IAGP RGD:9687884 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000421 PMID:11499718|PMID:12202917|PMID:15519027|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:33495597|PMID:7493025|RGD:8554872 IAGP RGD:8560566 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000496 PMID:11499718|PMID:12202917|PMID:15519027|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:33495597|PMID:7493025|RGD:8554872 IAGP RGD:8560566 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000518 PMID:25741868|RGD:8554872 IAGP RGD:155267936 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000527 PMID:25741868|RGD:8554872 IAGP RGD:155267936 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000540 PMID:10736283|PMID:11499718|PMID:11499719|PMID:11847170|PMID:14563344|PMID:15519027|PMID:16679492|PMID:19273718|PMID:19356534|PMID:19574547|PMID:20505798|PMID:22057632|PMID:22115648|PMID:22569109|PMID:22574137|PMID:23674513|PMID:24111713|PMID:25262865|PMID:25335496|PMID:25611685|PMID:25741868|PMID:26489474|PMID:26914223|PMID:27108529|PMID:27476098|PMID:27532257|PMID:28492532|PMID:28790153|PMID:28794111|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29300372|PMID:29447731|PMID:29759671|PMID:30025578|PMID:30550750|PMID:30731207|PMID:30742251|PMID:30775854|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:32009526|PMID:32686758|PMID:32841044|PMID:32880476|PMID:33673806|PMID:35653365|PMID:37844837|PMID:38489124|PMID:9562578|RGD:8554872 IAGP RGD:8654894 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000545 PMID:11499718|PMID:12202917|PMID:15519027|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:33495597|PMID:7493025|RGD:8554872 IAGP RGD:8560566 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000545 PMID:19574547|PMID:25741868|PMID:28492532|PMID:34542152|RGD:8554872 IAGP RGD:9833050 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000574 PMID:25741868|RGD:8554872 IAGP RGD:155267936 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000708 PMID:25741868|RGD:8554872 IAGP RGD:155267936 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000729 PMID:12707239|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16199542|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18809796|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20378854|PMID:20818890|PMID:21310275|PMID:21839045|PMID:22267749|PMID:22386539|PMID:22555271|PMID:22563033|PMID:22589294|PMID:23054336|PMID:23299917|PMID:23396983|PMID:23642604|PMID:23690394|PMID:23711808|PMID:24055113|PMID:24793961|PMID:24810389|PMID:25058872|PMID:25634555|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26467025|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29121657|PMID:30316040|PMID:30471092|PMID:30554920|PMID:30696458|PMID:31006259|PMID:31447099|PMID:31980526|PMID:32686758|PMID:32841044|PMID:35653365|PMID:37652022|PMID:38186735|PMID:38296631|PMID:39237976|PMID:9562578|RGD:8554872 IAGP RGD:8605381 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0000736 PMID:12707239|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16199542|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18809796|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20378854|PMID:20818890|PMID:21310275|PMID:21839045|PMID:22267749|PMID:22386539|PMID:22555271|PMID:22563033|PMID:22589294|PMID:23054336|PMID:23299917|PMID:23396983|PMID:23642604|PMID:23690394|PMID:23711808|PMID:24055113|PMID:24793961|PMID:24810389|PMID:25058872|PMID:25634555|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26467025|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29121657|PMID:30316040|PMID:30471092|PMID:30554920|PMID:30696458|PMID:31006259|PMID:31447099|PMID:31980526|PMID:32686758|PMID:32841044|PMID:35653365|PMID:37652022|PMID:38186735|PMID:38296631|PMID:39237976|PMID:9562578|RGD:8554872 IAGP RGD:8605381 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0000739 PMID:12707239|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16199542|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18809796|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20378854|PMID:20818890|PMID:21310275|PMID:21839045|PMID:22267749|PMID:22386539|PMID:22555271|PMID:22563033|PMID:22589294|PMID:23054336|PMID:23299917|PMID:23396983|PMID:23642604|PMID:23690394|PMID:23711808|PMID:24055113|PMID:24793961|PMID:24810389|PMID:25058872|PMID:25634555|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26467025|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29121657|PMID:30316040|PMID:30471092|PMID:30554920|PMID:30696458|PMID:31006259|PMID:31447099|PMID:31980526|PMID:32686758|PMID:32841044|PMID:35653365|PMID:37652022|PMID:38186735|PMID:38296631|PMID:39237976|PMID:9562578|RGD:8554872 IAGP RGD:8605381 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0000739 PMID:17937428|PMID:18403758|PMID:18467358|PMID:19808356|PMID:21835286|PMID:23054336|PMID:24510615|PMID:25031304|PMID:25335496|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:29212898|PMID:31447099|PMID:36162733|PMID:7493025|RGD:8554872 IAGP RGD:8560584 H myosin binding protein C3 gene taxon:9606 20260602 ClinVar RGD 1314284 MYBPC3 HP:0000739 PMID:25741868|PMID:28492532|PMID:32841044|RGD:8554872 IAGP RGD:13485093 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000819 PMID:25741868|RGD:8554872 IAGP RGD:598122357 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0000969 ORPHA:154|RGD:8699517 IAGP H myosin binding protein C3 gene taxon:9606 20240118 HPO RGD 1314284 MYBPC3 HP:0000978 PMID:11499718|PMID:12202917|PMID:15519027|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:33495597|PMID:7493025|RGD:8554872 IAGP RGD:8560566 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001249 PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:2367451|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073|PMID:30456444|PMID:31447099|PMID:32686758|PMID:32841044|PMID:33258288|PMID:37652022|RGD:8554872 IAGP RGD:8605478 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001249 PMID:25741868|RGD:8554872 IAGP RGD:155267936 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001250 PMID:12707239|PMID:25132132|PMID:28356264|PMID:28492532|RGD:8554872 IAGP RGD:151820486 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001250 PMID:12788380|PMID:19574547|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30731207|RGD:8554872 IAGP RGD:9691863 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001250 PMID:25741868|PMID:27532257|PMID:28492532|PMID:30442288|PMID:37652022|RGD:8554872 IAGP RGD:13476967 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001263 PMID:25741868|RGD:8554872 IAGP RGD:155267936 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001270 PMID:11499718|PMID:15519027|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29300372|PMID:29447731|PMID:29907873|PMID:30696458|PMID:30871747|PMID:32746448|PMID:32841044|PMID:33407484|PMID:33782553|PMID:34400558|PMID:35535697|PMID:35626289|PMID:36252119|PMID:36357371|PMID:38104429|PMID:38254962|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39554508|PMID:9562578|RGD:8554872 IAGP RGD:9687884 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001270 PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:2367451|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073|PMID:30456444|PMID:31447099|PMID:32686758|PMID:32841044|PMID:33258288|PMID:37652022|RGD:8554872 IAGP RGD:8605478 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001271 PMID:25741868|RGD:8554872 IAGP RGD:598122357 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001279 MIM:115197|MIM:615396|PMID:21551322|PMID:7493025|RGD:8699517 IAGP H myosin binding protein C3 gene taxon:9606 20250912 HPO RGD 1314284 MYBPC3 HP:0001279 PMID:17394878|PMID:19574547|PMID:20624503|PMID:20800588|PMID:21896538|PMID:24033266|PMID:24111713|PMID:25741868|PMID:28138913|PMID:28492532|PMID:28640247|PMID:28971120|PMID:32841044|PMID:35653365|PMID:37652022|RGD:8554872 IAGP RGD:9833034 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001279 PMID:22958901|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221|PMID:32746448|PMID:32841044|PMID:33495597|PMID:33782553|RGD:8554872 IAGP RGD:8605447 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001297 MIM:115197|PMID:7493025|RGD:8699517 IAGP H myosin binding protein C3 gene taxon:9606 20250912 HPO RGD 1314284 MYBPC3 HP:0001382 PMID:12707239|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16199542|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18809796|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20378854|PMID:20818890|PMID:21310275|PMID:21839045|PMID:22267749|PMID:22386539|PMID:22555271|PMID:22563033|PMID:22589294|PMID:23054336|PMID:23299917|PMID:23396983|PMID:23642604|PMID:23690394|PMID:23711808|PMID:24055113|PMID:24793961|PMID:24810389|PMID:25058872|PMID:25634555|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26467025|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29121657|PMID:30316040|PMID:30471092|PMID:30554920|PMID:30696458|PMID:31006259|PMID:31447099|PMID:31980526|PMID:32686758|PMID:32841044|PMID:35653365|PMID:37652022|PMID:38186735|PMID:38296631|PMID:39237976|PMID:9562578|RGD:8554872 IAGP RGD:8605381 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001513 PMID:10736283|PMID:11499718|PMID:11499719|PMID:11847170|PMID:14563344|PMID:15519027|PMID:16679492|PMID:19273718|PMID:19356534|PMID:19574547|PMID:20505798|PMID:22057632|PMID:22115648|PMID:22569109|PMID:22574137|PMID:23674513|PMID:24111713|PMID:25262865|PMID:25335496|PMID:25611685|PMID:25741868|PMID:26489474|PMID:26914223|PMID:27108529|PMID:27476098|PMID:27532257|PMID:28492532|PMID:28790153|PMID:28794111|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29300372|PMID:29447731|PMID:29759671|PMID:30025578|PMID:30550750|PMID:30731207|PMID:30742251|PMID:30775854|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:32009526|PMID:32686758|PMID:32841044|PMID:32880476|PMID:33673806|PMID:35653365|PMID:37844837|PMID:38489124|PMID:9562578|RGD:8554872 IAGP RGD:8654894 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001513 PMID:25741868|PMID:28492532|PMID:32841044|RGD:8554872 IAGP RGD:13485093 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001541 MIM:115197|PMID:16679492|RGD:8699517 IAGP H myosin binding protein C3 gene taxon:9606 20250912 HPO RGD 1314284 MYBPC3 HP:0001560 PMID:12707239|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16199542|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18809796|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20378854|PMID:20818890|PMID:21310275|PMID:21839045|PMID:22267749|PMID:22386539|PMID:22555271|PMID:22563033|PMID:22589294|PMID:23054336|PMID:23299917|PMID:23396983|PMID:23642604|PMID:23690394|PMID:23711808|PMID:24055113|PMID:24793961|PMID:24810389|PMID:25058872|PMID:25634555|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26467025|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29121657|PMID:30316040|PMID:30471092|PMID:30554920|PMID:30696458|PMID:31006259|PMID:31447099|PMID:31980526|PMID:32686758|PMID:32841044|PMID:35653365|PMID:37652022|PMID:38186735|PMID:38296631|PMID:39237976|PMID:9562578|RGD:8554872 IAGP RGD:8605381 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001622 PMID:12707239|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16199542|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18809796|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20378854|PMID:20818890|PMID:21310275|PMID:21839045|PMID:22267749|PMID:22386539|PMID:22555271|PMID:22563033|PMID:22589294|PMID:23054336|PMID:23299917|PMID:23396983|PMID:23642604|PMID:23690394|PMID:23711808|PMID:24055113|PMID:24793961|PMID:24810389|PMID:25058872|PMID:25634555|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26467025|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29121657|PMID:30316040|PMID:30471092|PMID:30554920|PMID:30696458|PMID:31006259|PMID:31447099|PMID:31980526|PMID:32686758|PMID:32841044|PMID:35653365|PMID:37652022|PMID:38186735|PMID:38296631|PMID:39237976|PMID:9562578|RGD:8554872 IAGP RGD:8605381 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001626 PMID:11748309|PMID:15114369|PMID:18926831|PMID:23299917|PMID:24055113|PMID:25741868|PMID:26914223|PMID:28492532|PMID:37652022|RGD:8554872 IAGP RGD:9687245 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001626 PMID:16199547|PMID:19574547|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899765 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001626 PMID:17937428|PMID:18403758|PMID:18467358|PMID:19808356|PMID:21835286|PMID:23054336|PMID:24510615|PMID:25031304|PMID:25335496|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:29212898|PMID:31447099|PMID:36162733|PMID:7493025|RGD:8554872 IAGP RGD:8560584 H myosin binding protein C3 gene taxon:9606 20260602 ClinVar RGD 1314284 MYBPC3 HP:0001626 PMID:19574547|PMID:25741868|PMID:28492532|PMID:28771489|RGD:8554872 IAGP RGD:401799307 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001626 PMID:25741868|RGD:8554872 IAGP RGD:408365269 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001634 PMID:25741868|RGD:8554872 IAGP RGD:596925614 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001634 RGD:8554872 IAGP RGD:713969135 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001635 MIM:115197|MIM:615396|ORPHA:154|PMID:16679492|PMID:21551322|RGD:8699517 IAGP H myosin binding protein C3 gene taxon:9606 20250912 HPO RGD 1314284 MYBPC3 HP:0001635 PMID:11499719|PMID:16858239|PMID:19574547|PMID:20031618|PMID:20173211|PMID:20359594|PMID:21302287|PMID:21835320|PMID:23674513|PMID:24033266|PMID:25524337|PMID:25611685|PMID:25740977|PMID:25741868|PMID:26656175|PMID:26688388|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29121657|PMID:29710196|PMID:29875424|PMID:30297972|PMID:30550750|PMID:32228044|PMID:32481709|PMID:32841044|PMID:34556856|RGD:8554872 IAGP RGD:8654899 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001635 PMID:12110947|PMID:15000344|PMID:16141195|PMID:18273486|PMID:19574547|PMID:22267749|PMID:22857948|PMID:23590259|PMID:23782526|PMID:24033266|PMID:24704860|PMID:24888384|PMID:25611685|PMID:25741868|PMID:28492532|PMID:28679633|PMID:28797094|PMID:30775854|PMID:32163302|PMID:32451163|PMID:33673806|PMID:35508642|PMID:37178278|RGD:8554872 IAGP RGD:8605355 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001635 PMID:21799269|PMID:25741868|RGD:8554872 IAGP RGD:155267981 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001635 PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875424|PMID:30297972|PMID:33782553|PMID:36166435|PMID:37652022|RGD:8554872 IAGP RGD:9832850 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001635 PMID:25741868|RGD:8554872 IAGP RGD:243052601 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001635 PMID:25741868|RGD:8554872 IAGP RGD:243053196 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001636 PMID:19150014|PMID:22765922|PMID:25741868|PMID:27930701|PMID:28356264|PMID:28492532|PMID:32917565|PMID:33919104|PMID:35629155|PMID:35885957|RGD:8554872 IAGP RGD:13801794 H myosin binding protein C3 gene taxon:9606 20260602 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:10424815|PMID:12601548|PMID:12707239|PMID:19574547|PMID:24033266|PMID:24093860|PMID:25741868|PMID:27532257|PMID:28193612|PMID:28492532|PMID:31447099|PMID:31513939|PMID:32009526|PMID:34542152|RGD:8554872 IAGP RGD:8560579 H myosin binding protein C3 gene taxon:9606 20260602 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:10521296|PMID:12110947|PMID:12386147|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15519027|PMID:16651346|PMID:16858239|PMID:18403758|PMID:18761664|PMID:19035361|PMID:19150014|PMID:21472310|PMID:22857948|PMID:23861362|PMID:24033266|PMID:25078086|PMID:25447171|PMID:25637381|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605485 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:10521296|PMID:19574547|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28615295|PMID:30297972|PMID:32841044|PMID:33495596|PMID:33495597|PMID:33782553|PMID:38489124|RGD:8554872 IAGP RGD:9832981 H myosin binding protein C3 gene taxon:9606 20250107 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:10610770|PMID:12707239|PMID:14613868|PMID:17576681|PMID:23140321|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9048664|PMID:9536098|RGD:8554872 IAGP RGD:8605622 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:10736283|PMID:11499718|PMID:11499719|PMID:11847170|PMID:14563344|PMID:15519027|PMID:16679492|PMID:19273718|PMID:19356534|PMID:19574547|PMID:20505798|PMID:22057632|PMID:22115648|PMID:22569109|PMID:22574137|PMID:23674513|PMID:24111713|PMID:25262865|PMID:25335496|PMID:25611685|PMID:25741868|PMID:26489474|PMID:26914223|PMID:27108529|PMID:27476098|PMID:27532257|PMID:28492532|PMID:28790153|PMID:28794111|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29300372|PMID:29447731|PMID:29759671|PMID:30025578|PMID:30550750|PMID:30731207|PMID:30742251|PMID:30775854|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:32009526|PMID:32686758|PMID:32841044|PMID:32880476|PMID:33673806|PMID:35653365|PMID:37844837|PMID:38489124|PMID:9562578|RGD:8554872 IAGP RGD:8654894 H myosin binding protein C3 gene taxon:9606 20250506 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:11447480|PMID:12386147|PMID:12787675|PMID:21310275|PMID:21750094|PMID:24033266|PMID:25132132|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30984009|PMID:32841044|PMID:37937776|PMID:9541115|RGD:8554872 IAGP RGD:8605429 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:11499718|PMID:11499719|PMID:12707239|PMID:15519027|PMID:17823372|PMID:21959974|PMID:22267749|PMID:24033266|PMID:24510615|PMID:2552433|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:29758562|PMID:30165862|PMID:31028938|PMID:31737537|PMID:35027292|PMID:35581137|PMID:37652022|PMID:38094187|PMID:7493026|PMID:9048664|PMID:9562578|RGD:8554872 IAGP RGD:8605617 H myosin binding protein C3 gene taxon:9606 20260616 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:11499718|PMID:12202917|PMID:15519027|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:33495597|PMID:7493025|RGD:8554872 IAGP RGD:8560566 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:11499718|PMID:15519027|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29300372|PMID:29447731|PMID:29907873|PMID:30696458|PMID:30871747|PMID:32746448|PMID:32841044|PMID:33407484|PMID:33782553|PMID:34400558|PMID:35535697|PMID:35626289|PMID:36252119|PMID:36357371|PMID:38104429|PMID:38254962|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39554508|PMID:9562578|RGD:8554872 IAGP RGD:9687884 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:11499718|PMID:16199547|PMID:19574547|PMID:20031602|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30297972|PMID:33495596|PMID:33673806|PMID:9562578|RGD:8554872 IAGP RGD:8605556 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:11499719|PMID:12974739|PMID:18374358|PMID:24033266|PMID:25525159|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28492532|PMID:35227736|PMID:37652022|PMID:38008210|RGD:8554872 IAGP RGD:9688839 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:11499719|PMID:12974739|PMID:21302287|PMID:21959974|PMID:23074333|PMID:23396983|PMID:24033266|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25525159|PMID:25611685|PMID:25741868|PMID:27532257|PMID:27620334|PMID:28492532|PMID:30550750|PMID:32815737|PMID:33673806|PMID:35838873|PMID:38002985|PMID:9241277|RGD:8554872 IAGP RGD:8605498 H myosin binding protein C3 gene taxon:9606 20260609 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:11499719|PMID:12974739|PMID:25741868|PMID:28356264|PMID:28492532|PMID:32841044|PMID:33782553|PMID:37904629|RGD:8554872 IAGP RGD:12890968 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:11499719|PMID:16858239|PMID:19574547|PMID:20031618|PMID:20173211|PMID:20359594|PMID:21302287|PMID:21835320|PMID:23674513|PMID:24033266|PMID:25524337|PMID:25611685|PMID:25740977|PMID:25741868|PMID:26656175|PMID:26688388|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29121657|PMID:29710196|PMID:29875424|PMID:30297972|PMID:30550750|PMID:32228044|PMID:32481709|PMID:32841044|PMID:34556856|RGD:8554872 IAGP RGD:8654899 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:11499719|PMID:24033266|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29398688|PMID:35257994|RGD:8554872 IAGP RGD:8605616 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:11748309|PMID:15114369|PMID:18926831|PMID:23299917|PMID:24055113|PMID:25741868|PMID:26914223|PMID:28492532|PMID:37652022|RGD:8554872 IAGP RGD:9687245 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12106841|PMID:12707239|PMID:16566405|PMID:16858239|PMID:17224687|PMID:18403758|PMID:18533079|PMID:20378854|PMID:20433692|PMID:21310275|PMID:22112859|PMID:22267749|PMID:22386539|PMID:22857948|PMID:23396983|PMID:24033266|PMID:25611685|PMID:25741868|PMID:27532257|PMID:27600940|PMID:28193612|PMID:28492532|PMID:28771489|PMID:29907873|PMID:30696458|PMID:30847666|PMID:31006259|PMID:31308319|PMID:31447099|PMID:31589614|PMID:31771441|PMID:31918855|PMID:32481709|PMID:32841044|PMID:33407484|PMID:37652022|PMID:9562578|RGD:8554872 IAGP RGD:8605382 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12110947|PMID:12818575|PMID:14563344|PMID:15519027|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605612 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12110947|PMID:15000344|PMID:16141195|PMID:18273486|PMID:19574547|PMID:22267749|PMID:22857948|PMID:23590259|PMID:23782526|PMID:24033266|PMID:24704860|PMID:24888384|PMID:25611685|PMID:25741868|PMID:28492532|PMID:28679633|PMID:28797094|PMID:30775854|PMID:32163302|PMID:32451163|PMID:33673806|PMID:35508642|PMID:37178278|RGD:8554872 IAGP RGD:8605355 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12110947|PMID:25741868|PMID:27662471|PMID:28492532|PMID:30775854|PMID:35653365|RGD:8554872 IAGP RGD:9832938 H myosin binding protein C3 gene taxon:9606 20240507 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12379228|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8560578 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12628722|PMID:12951062|PMID:14563344|PMID:15671604|PMID:16181148|PMID:18761664|PMID:18929575|PMID:20542340|PMID:20800588|PMID:22112859|PMID:22267749|PMID:24510615|PMID:25281569|PMID:25351510|PMID:25741868|PMID:26688216|PMID:27483260|PMID:27532257|PMID:28087566|PMID:28492532|PMID:29398688|PMID:29907873|PMID:30165862|PMID:30847666|PMID:31447099|PMID:31524317|PMID:32380161|PMID:32492895|PMID:32830170|PMID:32841044|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34542152|PMID:38489124|PMID:38757491|PMID:40115818|RGD:8554872 IAGP RGD:8560580 H myosin binding protein C3 gene taxon:9606 20250708 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12707239|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16199542|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18809796|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20378854|PMID:20818890|PMID:21310275|PMID:21839045|PMID:22267749|PMID:22386539|PMID:22555271|PMID:22563033|PMID:22589294|PMID:23054336|PMID:23299917|PMID:23396983|PMID:23642604|PMID:23690394|PMID:23711808|PMID:24055113|PMID:24793961|PMID:24810389|PMID:25058872|PMID:25634555|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26467025|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29121657|PMID:30316040|PMID:30471092|PMID:30554920|PMID:30696458|PMID:31006259|PMID:31447099|PMID:31980526|PMID:32686758|PMID:32841044|PMID:35653365|PMID:37652022|PMID:38186735|PMID:38296631|PMID:39237976|PMID:9562578|RGD:8554872 IAGP RGD:8605381 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12707239|PMID:15519027|PMID:16715312|PMID:18957093|PMID:19574547|PMID:24111713|PMID:24510615|PMID:25741868|PMID:28492532|PMID:29121657|PMID:35653365|PMID:37652022|RGD:8554872 IAGP RGD:8605356 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12707239|PMID:16199542|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21088121|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28029522|PMID:28492532|PMID:29247119|PMID:30550750|PMID:30847666|PMID:31513939|PMID:33673806|PMID:9048664|RGD:8554872 IAGP RGD:8605449 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12707239|PMID:16199547|PMID:18957093|PMID:19574547|PMID:20019025|PMID:22574137|PMID:24033266|PMID:24083979|PMID:25078086|PMID:25741868|PMID:26914223|PMID:27532257|PMID:27535533|PMID:28492532|PMID:30775854|PMID:30847666|PMID:31006259|PMID:31333075|PMID:31513939|PMID:31568572|PMID:32341788|PMID:33906374|PMID:34400558|PMID:9562578|PMID:9742053|RGD:8554872 IAGP RGD:8605632 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12707239|PMID:18258667|PMID:22361390|PMID:25741868|PMID:27532257|PMID:28492532|PMID:37652022|RGD:8554872 IAGP RGD:8605552 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12707239|PMID:19574547|PMID:24033266|PMID:24793961|PMID:25741868|PMID:26914223|PMID:28492532|RGD:8554872 IAGP RGD:9691838 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12707239|PMID:19574547|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:9048664|RGD:8554872 IAGP RGD:8605469 H myosin binding protein C3 gene taxon:9606 20230411 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12707239|PMID:20031618|PMID:23396983|PMID:24033266|PMID:24793961|PMID:25351510|PMID:25524337|PMID:25741868|PMID:27532257|PMID:28436997|PMID:28492532|PMID:28679633|PMID:28771489|PMID:29875424|PMID:30696458|PMID:33782553|PMID:33874732|PMID:34400558|PMID:37194601|PMID:37477868|PMID:37652022|PMID:38002985|PMID:38836037|RGD:8554872 IAGP RGD:9691817 H myosin binding protein C3 gene taxon:9606 20250408 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12707239|PMID:25741868|PMID:27532257|PMID:28492532|PMID:33782553|RGD:8554872 IAGP RGD:14977917 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12788380|PMID:18273486|PMID:18414213|PMID:19151713|PMID:20201939|PMID:21185128|PMID:21915287|PMID:21959974|PMID:24033266|PMID:24327208|PMID:25335496|PMID:25583989|PMID:25611685|PMID:25741868|PMID:28492532|PMID:29641836|PMID:30609409|PMID:30731207|PMID:30847666|PMID:31050699|PMID:31447099|PMID:31980526|PMID:32163302|PMID:32543992|RGD:8554872 IAGP RGD:9688895 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12788380|PMID:19574547|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30731207|RGD:8554872 IAGP RGD:9691863 H myosin binding protein C3 gene taxon:9606 20230411 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12818575|PMID:18258667|PMID:24111713|PMID:25132132|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30611859|PMID:33495597|PMID:34540771|RGD:8554872 IAGP RGD:9832950 H myosin binding protein C3 gene taxon:9606 20230509 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12951062|PMID:15115610|PMID:15519027|PMID:15936968|PMID:18761664|PMID:20031618|PMID:20624503|PMID:21158001|PMID:21185001|PMID:21302287|PMID:21415409|PMID:21835320|PMID:21839045|PMID:22958901|PMID:23299917|PMID:24033266|PMID:25335496|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26090888|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28408708|PMID:28492532|PMID:2861529|PMID:28615295|PMID:28790153|PMID:28840316|PMID:30847666|PMID:32841044|PMID:33558530|PMID:34400558|PMID:35626289|PMID:36252119|PMID:37477868|PMID:38002985|PMID:38489124|PMID:38757491|PMID:38795101|PMID:39633578|RGD:8554872 IAGP RGD:8605457 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:12951062|PMID:16199542|PMID:21551322|PMID:21839045|PMID:22267749|PMID:23299917|PMID:23349452|PMID:24033266|PMID:25335496|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26688216|PMID:27173948|PMID:27600940|PMID:28492532|PMID:29663722|PMID:32841044|PMID:33495597|PMID:35653365|PMID:36252119|PMID:37652022|RGD:8554872 IAGP RGD:8568139 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:14563344|PMID:15519027|PMID:16352453|PMID:20624503|PMID:22361390|PMID:23140321|PMID:23299917|PMID:23785128|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25163546|PMID:25741868|PMID:28492532|PMID:33035702|RGD:8554872 IAGP RGD:8605540 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:14563344|PMID:15519027|PMID:16679492|PMID:17612681|PMID:18403758|PMID:18409188|PMID:19356534|PMID:19574547|PMID:19858127|PMID:20505798|PMID:20624503|PMID:22574137|PMID:22857948|PMID:23233322|PMID:24111713|PMID:25335496|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28794111|PMID:30586709|PMID:30742251|PMID:31006259|PMID:31513939|PMID:31918855|PMID:32841044|PMID:33049255|PMID:33673806|PMID:33757590|PMID:35470684|PMID:36178741|PMID:36252119|PMID:36835444|PMID:37963751|RGD:8554872 IAGP RGD:8569900 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:14563344|PMID:15519027|PMID:18403758|PMID:18761664|PMID:20031618|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26914223|PMID:28492532|PMID:29907873|RGD:8554872 IAGP RGD:8605413 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:14563344|PMID:24033266|PMID:24510615|PMID:24793961|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:33495596|PMID:33495597|PMID:37652022|RGD:8554872 IAGP RGD:8605586 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:14563344|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34901410 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:15114369|PMID:15519027|PMID:18533079|PMID:18957093|PMID:19574547|PMID:22857948|PMID:24033266|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25741868|PMID:27532257|PMID:28492532|PMID:33495596|PMID:33673806|PMID:35411935|PMID:35581268|RGD:8554872 IAGP RGD:8605483 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:15519027|PMID:16181148|PMID:18929575|PMID:19150014|PMID:21839045|PMID:22763267|PMID:23197398|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24510615|PMID:25086479|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27600940|PMID:27650965|PMID:28492532|PMID:28498465|PMID:28971120|RGD:8554872 IAGP RGD:8569670 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:2367451|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073|PMID:30456444|PMID:31447099|PMID:32686758|PMID:32841044|PMID:33258288|PMID:37652022|RGD:8554872 IAGP RGD:8605478 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:15519027|PMID:16754800|PMID:16858239|PMID:18403758|PMID:1853307|PMID:18533079|PMID:20215591|PMID:20624503|PMID:21551322|PMID:22267749|PMID:22337857|PMID:23299917|PMID:23840593|PMID:23861362|PMID:24055113|PMID:24503780|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26936621|PMID:28492532|PMID:28794111|PMID:29555771|PMID:30847666|PMID:31019283|PMID:31737537|PMID:31980526|PMID:32880476|PMID:33495596|PMID:35200695|RGD:8554872 IAGP RGD:8572627 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:15519027|PMID:19574547|PMID:20359594|PMID:21302287|PMID:25741868|PMID:27532257|PMID:28492532|PMID:33673806|PMID:34137518|PMID:35653365|PMID:36203036|PMID:9541104|RGD:8554872 IAGP RGD:8605501 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:15519027|PMID:19574547|PMID:20474083|PMID:23690394|PMID:24033266|PMID:24510615|PMID:25543971|PMID:25611685|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28615295|PMID:31534214|RGD:8554872 IAGP RGD:8605406 H myosin binding protein C3 gene taxon:9606 20221206 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:15519027|PMID:19574547|PMID:21959974|PMID:25741868|PMID:28492532|PMID:28640247|PMID:30550750|RGD:8554872 IAGP RGD:9688919 H myosin binding protein C3 gene taxon:9606 20240507 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:15519027|PMID:19574547|PMID:24793961|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:30327538|RGD:8554872 IAGP RGD:8605475 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:15519027|PMID:19574547|PMID:28492532|RGD:8554872 IAGP RGD:9833052 H myosin binding protein C3 gene taxon:9606 20210608 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:15519027|PMID:20031602|PMID:20031618|PMID:20624503|PMID:22589294|PMID:23074333|PMID:23396983|PMID:23690394|PMID:23782526|PMID:24033266|PMID:24510615|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28087566|PMID:28492532|PMID:28679633|PMID:28790153|PMID:30645170|PMID:31199839|PMID:31219556|PMID:32841044|PMID:35199016|RGD:8554872 IAGP RGD:8605610 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:15519027|PMID:20031619|PMID:20560008|PMID:22907696|PMID:24033266|PMID:24093860|PMID:25741868|PMID:28492532|PMID:28790153|PMID:30665703|PMID:32841044|PMID:33500567|RGD:8554872 IAGP RGD:8605554 H myosin binding protein C3 gene taxon:9606 20241210 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:15519027|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605348 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:15519027|PMID:25351510|PMID:25524337|PMID:25741868|PMID:27483260|PMID:28492532|PMID:28615295|RGD:8554872 IAGP RGD:405164702 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:15519027|PMID:25741868|RGD:8554872 IAGP RGD:329955181 H myosin binding protein C3 gene taxon:9606 20240507 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:15563892|PMID:17386157|PMID:21959974|PMID:25741868|PMID:28492532|PMID:28855170|PMID:32380161|PMID:32492895|PMID:33830315|RGD:8554872 IAGP RGD:34894533 H myosin binding protein C3 gene taxon:9606 20250708 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16004897|PMID:18533079|PMID:21302287|PMID:23233322|PMID:25524337|PMID:25740977|PMID:25741868|PMID:27600940|PMID:28356264|PMID:28492532|PMID:28679633|PMID:28771489|PMID:33782553|PMID:35265679|RGD:8554872 IAGP RGD:9687248 H myosin binding protein C3 gene taxon:9606 20240312 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16061003|PMID:19574547|PMID:23711808|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29907873|RGD:8554872 IAGP RGD:9688916 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16181148|PMID:16199547|PMID:17263690|PMID:19149795|PMID:19574547|PMID:20975235|PMID:25525159|PMID:25741868|PMID:28420666|PMID:28492532|PMID:30105547|RGD:8554872 IAGP RGD:13483213 H myosin binding protein C3 gene taxon:9606 20250708 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16199547|PMID:16679492|PMID:19574547|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151233026 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16199547|PMID:16858239|PMID:19574547|PMID:20624503|PMID:22112859|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|RGD:8554872 IAGP RGD:9688904 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16199547|PMID:17823372|PMID:18258667|PMID:19574547|PMID:20624503|PMID:21239446|PMID:23140321|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29497013|PMID:33673806|PMID:37652022|PMID:7493026|PMID:9048664|PMID:9562578|RGD:8554872 IAGP RGD:9832969 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16199547|PMID:19574547|PMID:20215591|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25525159|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28193612|PMID:28492532|RGD:8554872 IAGP RGD:9689054 H myosin binding protein C3 gene taxon:9606 20241210 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16199547|PMID:19574547|PMID:21750094|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9832956 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16199547|PMID:19574547|PMID:22178992|PMID:24033266|PMID:25034069|PMID:25741868|PMID:27532257|PMID:27600940|PMID:28492532|PMID:28615295|PMID:30847666|PMID:31514951|RGD:8554872 IAGP RGD:8605374 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16199547|PMID:19574547|PMID:22907696|PMID:25351510|PMID:25741868|PMID:28492532|PMID:28771489|PMID:32841044|PMID:34542152|RGD:8554872 IAGP RGD:34892444 H myosin binding protein C3 gene taxon:9606 20241210 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16199547|PMID:19574547|PMID:24033266|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31308319|PMID:32710830|PMID:38002985|PMID:39160446|PMID:39554508|RGD:8554872 IAGP RGD:8605367 H myosin binding protein C3 gene taxon:9606 20260616 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16199547|PMID:19574547|PMID:24033266|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28492532|PMID:33495596|PMID:33673806|PMID:33906374|PMID:38757491|RGD:8554872 IAGP RGD:8605423 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16199547|PMID:19574547|PMID:25741868|PMID:27600940|PMID:28492532|PMID:28640247|PMID:30297972|PMID:33087929|RGD:8554872 IAGP RGD:11040124 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16199547|PMID:19574547|PMID:25741868|PMID:28492532|PMID:29661763|RGD:8554872 IAGP RGD:13442715 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16199547|PMID:19574547|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13819931 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16199547|PMID:19574547|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151233023 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16199547|PMID:19574547|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34899765 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16199547|PMID:19574547|PMID:28492532|PMID:28771489|RGD:8554872 IAGP RGD:9833056 H myosin binding protein C3 gene taxon:9606 20220607 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16267253|PMID:21511876|PMID:24033266|PMID:25351510|PMID:25558701|PMID:25741868|PMID:27930701|PMID:28492532|PMID:28518168|PMID:32461654|PMID:32746448|PMID:38042491|RGD:8554872 IAGP RGD:8605407 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16335287|PMID:20433692|PMID:23396983|PMID:24033266|PMID:24111713|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28771489|PMID:30790116|PMID:33782553|PMID:35653365|PMID:36788754|RGD:8554872 IAGP RGD:8605512 H myosin binding protein C3 gene taxon:9606 20250708 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16566405|PMID:18533079|PMID:21302287|PMID:21310275|PMID:22177269|PMID:22763267|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24510615|PMID:25214167|PMID:25637381|PMID:25741868|PMID:28492532|PMID:30297972|RGD:8554872 IAGP RGD:8605386 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16679492|PMID:18400036|PMID:19574547|PMID:20474083|PMID:21750094|PMID:22907696|PMID:24033266|PMID:24510615|PMID:24793961|PMID:25611685|PMID:25741868|PMID:2732257|PMID:27532257|PMID:28492532|PMID:30297972|PMID:30847666|RGD:8554872 IAGP RGD:9691822 H myosin binding protein C3 gene taxon:9606 20250107 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16679492|PMID:21750094|PMID:24033266|PMID:25741868|PMID:27476098|PMID:27532257|PMID:28492532|PMID:30105547|PMID:30297972|PMID:34389451|PMID:37652022|PMID:37904629|RGD:8554872 IAGP RGD:8605404 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16715312|PMID:18957093|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:23140321|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28771489|PMID:37652022|RGD:8554872 IAGP RGD:8605620 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16858239|PMID:18533079|PMID:19150014|PMID:20031602|PMID:20173211|PMID:20594303|PMID:20624503|PMID:21750094|PMID:21835320|PMID:22765922|PMID:23508784|PMID:23549607|PMID:23690394|PMID:24793961|PMID:25351510|PMID:25741868|PMID:27108529|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28492532|PMID:28798025|PMID:31941943|PMID:32369506|PMID:32841044|PMID:33495597|PMID:33673806|PMID:33782553|PMID:36291626|PMID:38259611|PMID:38938358|RGD:8554872 IAGP RGD:9691855 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16858239|PMID:18533079|PMID:19150014|PMID:20031602|PMID:20173211|PMID:20624503|PMID:20800588|PMID:21750094|PMID:21835320|PMID:22765922|PMID:23508784|PMID:23690394|PMID:24793961|PMID:25351510|PMID:25524337|PMID:25741868|PMID:27108529|PMID:27483260|PMID:27532257|PMID:27590665|PMID:27600940|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28492532|PMID:28798025|PMID:28840316|PMID:28986452|PMID:30297972|PMID:31941943|PMID:32228044|PMID:32369506|PMID:32841044|PMID:35208637|PMID:35629155|PMID:35753512|PMID:36252119|PMID:36264615|PMID:36291626|PMID:39260623|RGD:8554872 IAGP RGD:8605391 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16858239|PMID:18533079|PMID:20215591|PMID:25741868|PMID:26656175|PMID:28492532|PMID:31424582|RGD:8554872 IAGP RGD:9833023 H myosin binding protein C3 gene taxon:9606 20221206 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16858239|PMID:18533079|PMID:20359594|PMID:22177269|PMID:25741868|PMID:28492532|PMID:31006259|PMID:31729605|PMID:32841044|PMID:34400558|PMID:34428338|PMID:35629155|PMID:37937776|PMID:39486665|RGD:8554872 IAGP RGD:9832942 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:16858239|PMID:21302287|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:8605472 H myosin binding protein C3 gene taxon:9606 20250211 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17192269|PMID:18533079|PMID:20173211|PMID:20414521|PMID:20624503|PMID:21415409|PMID:21835320|PMID:22765922|PMID:23233322|PMID:23299917|PMID:24033266|PMID:24093860|PMID:25524337|PMID:25637381|PMID:25741868|PMID:25971843|PMID:26090888|PMID:27267291|PMID:28420666|PMID:28492532|PMID:28518168|PMID:30446606|PMID:30645170|PMID:30731207|PMID:30871747|PMID:30972196|PMID:32369506|PMID:35470680|PMID:37431535|PMID:37652022|RGD:8554872 IAGP RGD:8569663 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17394878|PMID:19574547|PMID:20624503|PMID:20800588|PMID:21896538|PMID:24033266|PMID:24111713|PMID:25741868|PMID:28138913|PMID:28492532|PMID:28640247|PMID:28971120|PMID:32841044|PMID:35653365|PMID:37652022|RGD:8554872 IAGP RGD:9833034 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17560888|PMID:18929575|PMID:22560514|PMID:23299917|PMID:24033266|PMID:24510615|PMID:25741868|PMID:26178432|PMID:27005929|PMID:27135274|PMID:28492532|PMID:29398688|PMID:30959811|PMID:31677916|PMID:32841044|PMID:33495596|PMID:33658040|RGD:8554872 IAGP RGD:9687243 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17560888|PMID:20474083|PMID:22763267|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24510615|PMID:24621997|PMID:24865491|PMID:25377941|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332594|PMID:26458567|PMID:26467025|PMID:28420666|PMID:28492532|PMID:28679633|RGD:8554872 IAGP RGD:9687251 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:20513729|PMID:20800588|PMID:21239446|PMID:21302287|PMID:25740977|PMID:25741868|PMID:28408708|PMID:28492532|PMID:28750076|PMID:30645170|PMID:31983221|PMID:32481709|PMID:32841044|PMID:33530161|PMID:35208637|PMID:9536098|RGD:8554872 IAGP RGD:13502455 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:23233322|PMID:25741868|PMID:26656175|PMID:28492532|PMID:30645170|PMID:31513939|PMID:32841044|PMID:36252119|PMID:36264615|PMID:9536098|RGD:8554872 IAGP RGD:11089155 H myosin binding protein C3 gene taxon:9606 20250211 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25132132|PMID:25741868|PMID:28492532|PMID:30297972|PMID:37652022|PMID:39160446|PMID:9536098|RGD:8554872 IAGP RGD:12848891 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25351510|PMID:25741868|PMID:28492532|PMID:28679633|PMID:37652022|PMID:9536098|RGD:8554872 IAGP RGD:8605500 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30645170|PMID:32841044|PMID:33190526|PMID:33495596|PMID:33495597|PMID:35508642|PMID:38489124|PMID:39472908|PMID:9536098|RGD:8554872 IAGP RGD:9832913 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25351510|PMID:25741868|PMID:28492532|PMID:34461741|PMID:39472908|PMID:9536098|RGD:8554872 IAGP RGD:11549881 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:33432171|PMID:34097875|PMID:38549855|PMID:9536098|RGD:8554872 IAGP RGD:11546641 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:14692194 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:150406993 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151348997 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151349040 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:151351104 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:155683061 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:155713384 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:34893008 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:34893556 H myosin binding protein C3 gene taxon:9606 20210406 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:404985408 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:9832862 H myosin binding protein C3 gene taxon:9606 20220420 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|RGD:8554872 IAGP RGD:9832936 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17937428|PMID:18258667|PMID:18337725|PMID:18467358|PMID:25741868|PMID:27841901|PMID:28492532|PMID:2879709|PMID:28797094|PMID:30645170|PMID:31006259|PMID:32841044|PMID:33673806|PMID:34400558|PMID:35508642|RGD:8554872 IAGP RGD:8692063 H myosin binding protein C3 gene taxon:9606 20260616 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:17937428|PMID:18403758|PMID:18467358|PMID:19808356|PMID:21835286|PMID:23054336|PMID:24510615|PMID:25031304|PMID:25335496|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:29212898|PMID:31447099|PMID:36162733|PMID:7493025|RGD:8554872 IAGP RGD:8560584 H myosin binding protein C3 gene taxon:9606 20260602 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:18258667|RGD:8554872 IAGP RGD:38467488 H myosin binding protein C3 gene taxon:9606 20221206 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:18337725|PMID:25741868|PMID:28492532|PMID:28771489|RGD:8554872 IAGP RGD:8560582 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:18403758|PMID:24510615|PMID:25741868|PMID:26914223|PMID:28492532|PMID:33495596|PMID:33495597|RGD:8554872 IAGP RGD:9691827 H myosin binding protein C3 gene taxon:9606 20240507 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:18409188|PMID:18414213|PMID:20378854|PMID:20474083|PMID:20530761|PMID:22267749|PMID:22958901|PMID:23861362|PMID:24033266|PMID:25210889|PMID:25335496|PMID:25611685|PMID:25741868|PMID:27532257|PMID:27650965|PMID:28492532|PMID:28679633|PMID:28790153|PMID:28794111|PMID:29121657|PMID:29447731|PMID:29661763|PMID:29709087|PMID:29988065|PMID:30291343|PMID:30763825|PMID:30847666|PMID:31293105|PMID:32369506|PMID:32480058|PMID:32588587|PMID:32841044|PMID:33495596|PMID:33495597|PMID:33662488|PMID:33732734|PMID:33782553|PMID:34389451|PMID:35288587|PMID:36264615|PMID:37652022|PMID:38489124|PMID:38642550|PMID:38757491|PMID:39633578|RGD:8554872 IAGP RGD:8605579 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:18409188|PMID:20433692|PMID:20530761|PMID:20738943|PMID:21310275|PMID:22765922|PMID:22958901|PMID:23233322|PMID:23299917|PMID:23527136|PMID:23782526|PMID:24033266|PMID:24055113|PMID:24503780|PMID:24793961|PMID:25342278|PMID:25637381|PMID:25741868|PMID:26654849|PMID:28356264|PMID:28492532|PMID:28807990|PMID:30446606|RGD:8554872 IAGP RGD:8605605 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:18533079|PMID:19574547|PMID:19996403|PMID:23396983|PMID:24033266|PMID:25524337|PMID:25741868|PMID:27532257|PMID:28138913|PMID:28254189|PMID:28492532|PMID:30025578|PMID:30297972|PMID:31110529|PMID:32163302|PMID:32396390|PMID:33495596|PMID:33673806|PMID:33996946|PMID:34076677|PMID:34714385|PMID:35626289|PMID:38002985|PMID:39160446|PMID:39486665|RGD:8554872 IAGP RGD:8605572 H myosin binding protein C3 gene taxon:9606 20260616 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:18533079|PMID:20215591|PMID:21499742|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28492532|PMID:28840316|PMID:34097875|PMID:35208637|PMID:35653365|PMID:37652022|RGD:8554872 IAGP RGD:8605489 H myosin binding protein C3 gene taxon:9606 20241210 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:18533079|PMID:20624503|PMID:22361390|PMID:22857948|PMID:25637381|PMID:25740977|PMID:25741868|PMID:28356264|PMID:28492532|PMID:33495597|RGD:8554872 IAGP RGD:13527188 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:18533079|PMID:21835320|PMID:25524337|PMID:25741868|PMID:28492532|PMID:28790153|PMID:32841044|PMID:33782553|PMID:34426522|RGD:8554872 IAGP RGD:14688199 H myosin binding protein C3 gene taxon:9606 20230509 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:18533079|PMID:21835320|PMID:25741868|PMID:28492532|PMID:33782553|RGD:8554872 IAGP RGD:151233040 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:18929575|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:15170944 H myosin binding protein C3 gene taxon:9606 20221206 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:18957093|PMID:20433692|PMID:21511876|PMID:21835320|PMID:22267749|PMID:22958901|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24119082|PMID:24503780|PMID:25163546|PMID:25569433|PMID:25637381|PMID:25741868|PMID:26332198|PMID:27194543|PMID:27435932|PMID:27561770|PMID:27576561|PMID:28492532|PMID:29121657|PMID:29875424|PMID:34935411|RGD:8554872 IAGP RGD:8569667 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19150014|PMID:20433692|PMID:22765922|PMID:23396983|PMID:25741868|PMID:26671970|PMID:28492532|PMID:9562578|RGD:8554872 IAGP RGD:28897251 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:19996403|PMID:24033266|PMID:24793961|PMID:25741868|PMID:28492532|PMID:33190526|RGD:8554872 IAGP RGD:9689015 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:20021930|PMID:22115648|PMID:23711808|PMID:24865491|PMID:25741868|PMID:30847666|PMID:32841044|PMID:33495596|RGD:8554872 IAGP RGD:13533969 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:20031618|PMID:25741868|PMID:27532257|PMID:27600940|PMID:28492532|RGD:8554872 IAGP RGD:9832986 H myosin binding protein C3 gene taxon:9606 20210608 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:20800588|PMID:25031304|PMID:25037680|PMID:25611685|PMID:25740977|PMID:28138913|PMID:28492532|PMID:28771489|PMID:33495597|RGD:8554872 IAGP RGD:153348839 H myosin binding protein C3 gene taxon:9606 20240910 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:21165360|PMID:23283745|PMID:23711808|PMID:25741868|PMID:26090888|PMID:28492532|PMID:32841044|PMID:34087240|PMID:34601892|PMID:34785479|RGD:8554872 IAGP RGD:10041801 H myosin binding protein C3 gene taxon:9606 20240507 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:21425739|PMID:22857948|PMID:25741868|PMID:28492532|PMID:37466024|PMID:38417376|RGD:8554872 IAGP RGD:9832846 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:21750094|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28492532|PMID:33673806|RGD:8554872 IAGP RGD:9691847 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:21959974|PMID:23299917|PMID:24093860|PMID:24510615|PMID:25637381|PMID:25741868|PMID:28408708|PMID:28492532|RGD:8554872 IAGP RGD:9691289 H myosin binding protein C3 gene taxon:9606 20221206 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:22820391|PMID:23816408|PMID:25741868|PMID:28492532|PMID:30025578|PMID:32163302|PMID:32396390|PMID:32841044|PMID:32973354|PMID:33657327|PMID:35288587|PMID:35508642|PMID:35653365|PMID:36980931|PMID:37652022|PMID:38489124|PMID:7493025|RGD:8554872 IAGP RGD:10041797 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:23233322|PMID:24033266|PMID:25351510|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32731933|RGD:8554872 IAGP RGD:9688924 H myosin binding protein C3 gene taxon:9606 20250211 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:23233322|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34895776 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:23396983|PMID:25741868|PMID:27532257|PMID:28492532|RGD:8554872 IAGP RGD:13509197 H myosin binding protein C3 gene taxon:9606 20240507 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:23674513|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28790153|RGD:8554872 IAGP RGD:12882931 H myosin binding protein C3 gene taxon:9606 20210608 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:24033266|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|RGD:8554872 IAGP RGD:8605543 H myosin binding protein C3 gene taxon:9606 20230411 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:24033266|PMID:24810389|PMID:25741868|PMID:27532257|PMID:28492532|RGD:8554872 IAGP RGD:8605444 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:24033266|PMID:25031304|PMID:25741868|PMID:27532257|PMID:27688314|PMID:28492532|RGD:8554872 IAGP RGD:8605523 H myosin binding protein C3 gene taxon:9606 20221206 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:24033266|PMID:25132132|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:33495596|PMID:33495597|PMID:36252119|RGD:8554872 IAGP RGD:8654897 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:30297972|PMID:32228044|PMID:32841044|PMID:33495597|PMID:34556856|RGD:8554872 IAGP RGD:8654902 H myosin binding protein C3 gene taxon:9606 20250107 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:24033266|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28492532|RGD:8554872 IAGP RGD:8654903 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:24033266|PMID:25611685|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605422 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:24033266|PMID:25741868|PMID:28241245|PMID:28492532|PMID:28611029|PMID:33495597|RGD:8554872 IAGP RGD:8605547 H myosin binding protein C3 gene taxon:9606 20240507 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9690643 H myosin binding protein C3 gene taxon:9606 20240312 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:25351510|PMID:27600940|PMID:28492532|PMID:28615295|RGD:8554872 IAGP RGD:9832985 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:25351510|PMID:28492532|RGD:8554872 IAGP RGD:597848791 H myosin binding protein C3 gene taxon:9606 20250318 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28492532|RGD:8554872 IAGP RGD:9691834 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30165862|RGD:8554872 IAGP RGD:10448675 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:25741868|PMID:28492532|PMID:28615295|PMID:28771489|RGD:8554872 IAGP RGD:10767059 H myosin binding protein C3 gene taxon:9606 20220118 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:25741868|PMID:28492532|PMID:31513939|RGD:8554872 IAGP RGD:9833002 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:25741868|PMID:28492532|PMID:32034629|RGD:8554872 IAGP RGD:12894826 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13816340 H myosin binding protein C3 gene taxon:9606 20220607 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:151233048 H myosin binding protein C3 gene taxon:9606 20220420 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:155694152 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:28896098 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34897847 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:28492532|RGD:8554872 IAGP RGD:151731020 H myosin binding protein C3 gene taxon:9606 20220420 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19574547|PMID:28492532|RGD:8554872 IAGP RGD:9833005 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19632136|PMID:20800588|PMID:21750094|PMID:22361390|PMID:22464770|PMID:22763267|PMID:22958901|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24119082|PMID:24503780|PMID:25524337|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605606 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:19694057|PMID:25741868|PMID:28492532|PMID:32841044|RGD:8554872 IAGP RGD:9832855 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:20215591|PMID:22337857|PMID:22958901|PMID:24033266|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31376648|PMID:33782553|PMID:37652022|RGD:8554872 IAGP RGD:8605414 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:20215591|PMID:25741868|PMID:28492532|PMID:29121657|PMID:32841044|PMID:33782553|RGD:8554872 IAGP RGD:8572626 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:20433692|PMID:21488259|PMID:21943931|PMID:23299917|PMID:24033266|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:27532257|PMID:27600940|PMID:28492532|PMID:28518168|PMID:28679633|PMID:28771489|PMID:30871747|PMID:31513939|PMID:32841044|PMID:33495596|PMID:33495597|PMID:33782553|PMID:39456977|PMID:39769170|RGD:8554872 IAGP RGD:9688417 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:20474083|PMID:22958901|PMID:23283745|PMID:25132132|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28771489|PMID:28840316|PMID:29121657|PMID:29247119|PMID:29687901|PMID:31110529|PMID:33658040|PMID:35626289|PMID:37652022|RGD:8554872 IAGP RGD:12906826 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:20474083|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|RGD:8554872 IAGP RGD:8605641 H myosin binding protein C3 gene taxon:9606 20240319 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:20513729|PMID:21239446|PMID:21302287|PMID:25740977|PMID:25741868|PMID:28492532|PMID:28679633|PMID:32841044|RGD:8554872 IAGP RGD:13211936 H myosin binding protein C3 gene taxon:9606 20240312 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:20624503|PMID:20800588|PMID:22958901|PMID:25741868|PMID:26633542|PMID:27532257|PMID:27600940|PMID:27885498|PMID:28416588|PMID:28492532|PMID:29875424|PMID:30775854|PMID:32841044|PMID:33495596|PMID:34426522|PMID:35653365|PMID:37652022|RGD:8554872 IAGP RGD:9691876 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:20624503|PMID:21302287|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32481709|PMID:37089884|RGD:8554872 IAGP RGD:8605482 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:20624503|PMID:25351510|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893286 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:20800588|PMID:21310275|PMID:22429680|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25342278|PMID:25741868|PMID:28166811|PMID:28492532|PMID:32746448|PMID:35653365|PMID:37937776|RGD:8554872 IAGP RGD:8569673 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:20800588|PMID:21310275|PMID:25741868|PMID:28492532|PMID:30685992|PMID:32841044|RGD:8554872 IAGP RGD:13609211 H myosin binding protein C3 gene taxon:9606 20230509 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:20800588|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28771489|PMID:30297972|PMID:33495597|RGD:8554872 IAGP RGD:11545123 H myosin binding protein C3 gene taxon:9606 20260602 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:20800588|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13529072 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21239446|PMID:24033266|PMID:25740977|PMID:25741868|PMID:26467025|PMID:28492532|RGD:8554872 IAGP RGD:8605587 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21239446|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28840316|PMID:30696458|PMID:33782553|PMID:34097875|PMID:37652022|RGD:8554872 IAGP RGD:9832924 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21310275|PMID:21520333|PMID:25132132|PMID:25741868|PMID:28492532|PMID:32841044|RGD:8554872 IAGP RGD:9832965 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21310275|PMID:25741868|PMID:28492532|PMID:30847666|PMID:33954932|RGD:8554872 IAGP RGD:9832865 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21310275|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34894726 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21415409|PMID:23233322|PMID:24033266|PMID:25741868|PMID:27483260|PMID:27600940|PMID:28492532|PMID:29398688|PMID:30959811|PMID:32481709|PMID:32841044|PMID:33495597|PMID:33782553|PMID:33954932|PMID:37466024|PMID:37652022|RGD:8554872 IAGP RGD:12896379 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21520333|PMID:25741868|PMID:27688314|PMID:28492532|PMID:28615295|RGD:8554872 IAGP RGD:9832854 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21520333|PMID:25741868|PMID:28492532|PMID:35629155|RGD:8554872 IAGP RGD:126730018 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21520333|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12850247 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21520333|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9833027 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21750094|PMID:21839045|PMID:23054336|PMID:23299917|PMID:23396983|PMID:24033266|PMID:25132132|PMID:25637381|PMID:25741868|PMID:27153395|PMID:27418595|PMID:27896284|PMID:27930701|PMID:28492532|PMID:28518168|PMID:28807990|PMID:29914921|PMID:31219556|PMID:31568572|PMID:31737537|PMID:32250699|PMID:34389451|PMID:34400558|PMID:35653365|PMID:37652022|RGD:8554872 IAGP RGD:9687250 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21750094|PMID:24793961|PMID:25741868|PMID:28492532|PMID:30009132|PMID:33495597|PMID:33892289|PMID:35653365|PMID:37466024|PMID:39684611|RGD:8554872 IAGP RGD:9832973 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21750094|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31983221|PMID:38254962|RGD:8554872 IAGP RGD:9691086 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21750094|PMID:25741868|PMID:28255936|PMID:28492532|RGD:8554872 IAGP RGD:10407139 H myosin binding protein C3 gene taxon:9606 20221206 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21750094|PMID:25741868|PMID:28492532|PMID:30847666|PMID:33029862|PMID:34389451|RGD:8554872 IAGP RGD:9832832 H myosin binding protein C3 gene taxon:9606 20240319 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21750094|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:21069628 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21750094|PMID:25741868|RGD:8554872 IAGP RGD:405063350 H myosin binding protein C3 gene taxon:9606 20240319 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:21943931|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28679633|PMID:32841044|PMID:34400558|RGD:8554872 IAGP RGD:8605373 H myosin binding protein C3 gene taxon:9606 20240507 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22267749|PMID:24033266|PMID:24111713|PMID:25741868|PMID:27532257|PMID:28492532|PMID:33432171|PMID:35653365|PMID:37652022|RGD:8554872 IAGP RGD:9691842 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22267749|PMID:24033266|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33782553|PMID:36264615|PMID:37652022|PMID:38456273|RGD:8554872 IAGP RGD:8605341 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22267749|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34900866 H myosin binding protein C3 gene taxon:9606 20240319 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22464770|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28640247|PMID:30188508|PMID:30297972|PMID:30847666|PMID:32600061|PMID:32841044|PMID:33782553|PMID:37652022|RGD:8554872 IAGP RGD:9689049 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22763267|PMID:22958901|PMID:24033266|PMID:24510615|PMID:25741868|PMID:28492532|PMID:32880476|PMID:34097875|RGD:8554872 IAGP RGD:8569664 H myosin binding protein C3 gene taxon:9606 20210810 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22857948|PMID:24033266|PMID:25741868|PMID:28492532|PMID:37652022|RGD:8554872 IAGP RGD:12896679 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:23233322|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9832877 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221|PMID:32746448|PMID:32841044|PMID:33495597|PMID:33782553|RGD:8554872 IAGP RGD:8605447 H myosin binding protein C3 gene taxon:9606 20240312 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:24033266|PMID:25611685|PMID:25741868|PMID:27930701|PMID:28492532|PMID:32841044|RGD:8554872 IAGP RGD:8605539 H myosin binding protein C3 gene taxon:9606 20260602 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:24033266|PMID:25741868|PMID:26743238|PMID:28492532|PMID:29247119|PMID:32746448|PMID:32841044|PMID:33495596|PMID:33495597|PMID:35653365|PMID:37652022|RGD:8554872 IAGP RGD:8605533 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29540472|PMID:30571196|PMID:32880476|PMID:33782553|PMID:37652022|RGD:8554872 IAGP RGD:8605503 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:24510615|PMID:25637381|PMID:25741868|PMID:27332903|PMID:28492532|PMID:28790153|PMID:29247119|PMID:34935411|PMID:36252119|PMID:37652022|RGD:8554872 IAGP RGD:9832895 H myosin binding protein C3 gene taxon:9606 20260602 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022|RGD:8554872 IAGP RGD:9832917 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:25163546|PMID:25741868|PMID:28492532|PMID:28798025|PMID:30847666|PMID:35934244|PMID:36005429|RGD:8554872 IAGP RGD:9833032 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|RGD:8554872 IAGP RGD:12839889 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:25741868|PMID:28492532|PMID:28679633|PMID:33495597|RGD:8554872 IAGP RGD:13534555 H myosin binding protein C3 gene taxon:9606 20231107 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:25741868|PMID:28492532|PMID:29875424|PMID:32815737|PMID:32841044|PMID:33782553|PMID:35629155|RGD:8554872 IAGP RGD:34898579 H myosin binding protein C3 gene taxon:9606 20240319 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:25741868|PMID:28492532|PMID:31983221|PMID:37652022|RGD:8554872 IAGP RGD:13493664 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:25741868|PMID:28492532|PMID:32841044|PMID:33782553|RGD:8554872 IAGP RGD:13497214 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:25741868|PMID:28492532|PMID:37904629|RGD:8554872 IAGP RGD:9832940 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13528955 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:22958901|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34896766 H myosin binding protein C3 gene taxon:9606 20230808 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:23233322|PMID:25741868|PMID:28492532|PMID:31931689|PMID:31983221|PMID:33495597|RGD:8554872 IAGP RGD:155676189 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:23233322|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34893513 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:23233322|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9833030 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:23396983|PMID:25741868|PMID:28492532|PMID:28790153|PMID:32841044|RGD:8554872 IAGP RGD:9833003 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:23418438|PMID:25741868|PMID:28492532|PMID:31918855|PMID:31983221|RGD:8554872 IAGP RGD:12913564 H myosin binding protein C3 gene taxon:9606 20250211 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:23861362|PMID:25741868|PMID:28492532|PMID:28518168|PMID:28771489|PMID:30847666|PMID:33782553|PMID:37652022|RGD:8554872 IAGP RGD:10046351 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:23861362|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9832891 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:23861362|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9833047 H myosin binding protein C3 gene taxon:9606 20210406 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|RGD:8554872 IAGP RGD:8605628 H myosin binding protein C3 gene taxon:9606 20260602 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25342278|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29121657|PMID:29524613|PMID:30297972|PMID:30871747|PMID:32841044|PMID:33996946|PMID:37652022|RGD:8554872 IAGP RGD:8605575 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25342278|PMID:25741868|PMID:27532257|PMID:28356264|PMID:28492532|PMID:28771489|PMID:30696458|PMID:32746448|PMID:33495597|PMID:37652022|RGD:8554872 IAGP RGD:8605581 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25351510|PMID:25611685|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:32841044|PMID:33782553|PMID:35265679|PMID:37652022|PMID:37949234|RGD:8554872 IAGP RGD:8605458 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221|RGD:8554872 IAGP RGD:9691868 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25447171|PMID:25741868|PMID:28492532|PMID:29875424|PMID:30297972|PMID:32841044|PMID:33495597|PMID:33782553|RGD:8554872 IAGP RGD:9690092 H myosin binding protein C3 gene taxon:9606 20250506 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25611685|PMID:25741868|PMID:26743238|RGD:8554872 IAGP RGD:9691832 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:37652022|RGD:8554872 IAGP RGD:8605405 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|RGD:8554872 IAGP RGD:8605578 H myosin binding protein C3 gene taxon:9606 20220607 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11091055 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:11093597 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:13533743 H myosin binding protein C3 gene taxon:9606 20210706 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605363 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605366 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605377 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605412 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605425 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605438 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605440 H myosin binding protein C3 gene taxon:9606 20210706 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605445 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605507 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605516 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605530 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605532 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605598 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605637 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605638 H myosin binding protein C3 gene taxon:9606 20220510 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8692056 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9689098 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9689277 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9690530 H myosin binding protein C3 gene taxon:9606 20210706 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9691840 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9691846 H myosin binding protein C3 gene taxon:9606 20210608 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9691850 H myosin binding protein C3 gene taxon:9606 20230307 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:9691865 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24033266|PMID:25741868|RGD:8554872 IAGP RGD:11089066 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24111713|PMID:25741868|PMID:26090888|PMID:27532257|PMID:28492532|PMID:28971120|PMID:33495596|PMID:35653365|PMID:37652022|RGD:8554872 IAGP RGD:13477878 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24111713|PMID:25741868|PMID:27532257|PMID:27707468|PMID:28492532|PMID:32815737|PMID:32841044|PMID:33495596|PMID:33782553|PMID:36580209|PMID:37652022|PMID:37937776|RGD:8554872 IAGP RGD:8605345 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24111713|PMID:25741868|PMID:28492532|PMID:34555931|RGD:8554872 IAGP RGD:21069626 H myosin binding protein C3 gene taxon:9606 20240312 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24111713|PMID:25741868|PMID:35177841|PMID:37477868|RGD:8554872 IAGP RGD:243055944 H myosin binding protein C3 gene taxon:9606 20250506 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24440382|PMID:25741868|PMID:28492532|PMID:29192238|PMID:33588347|PMID:38296580|RGD:8554872 IAGP RGD:10041778 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24510615|PMID:25741868|PMID:28492532|PMID:28747690|RGD:8554872 IAGP RGD:28899475 H myosin binding protein C3 gene taxon:9606 20240910 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24510615|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:34898571 H myosin binding protein C3 gene taxon:9606 20240312 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24749114|PMID:25741868|PMID:27600940|PMID:28492532|RGD:8554872 IAGP RGD:28896139 H myosin binding protein C3 gene taxon:9606 20230509 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24793961|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:35653365|PMID:37652022|RGD:8554872 IAGP RGD:13609104 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:24793961|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:12906597 H myosin binding protein C3 gene taxon:9606 20240403 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25132132|PMID:25342278|PMID:25741868|PMID:27600940|PMID:28356264|PMID:28492532|PMID:29875424|PMID:31660989|PMID:32841044|PMID:33782553|PMID:35208637|RGD:8554872 IAGP RGD:405063622 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25132132|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29192238|PMID:29398688|PMID:32355288|PMID:33495596|PMID:33495597|PMID:39272661|RGD:8554872 IAGP RGD:26902273 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25132132|PMID:25741868|PMID:28492532|PMID:33495597|RGD:8554872 IAGP RGD:13811586 H myosin binding protein C3 gene taxon:9606 20240507 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25132132|PMID:25741868|RGD:8554872 IAGP RGD:14689002 H myosin binding protein C3 gene taxon:9606 20221206 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25351510|PMID:25741868|PMID:27476098|PMID:28408708|PMID:28492532|PMID:28790153|PMID:30105547|PMID:37652022|RGD:8554872 IAGP RGD:13533774 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32041989|PMID:32841044|PMID:33495597|PMID:36352534|PMID:37652022|PMID:37937776|RGD:8554872 IAGP RGD:12888657 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25351510|PMID:28492532|PMID:33782553|PMID:34097875|RGD:8554872 IAGP RGD:9833006 H myosin binding protein C3 gene taxon:9606 20240312 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25524337|PMID:25741868|PMID:28492532|PMID:32841044|PMID:33432171|PMID:33495597|PMID:33782553|PMID:34426522|RGD:8554872 IAGP RGD:9832888 H myosin binding protein C3 gene taxon:9606 20221206 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25611685|PMID:25741868|PMID:26090888|PMID:27532257|PMID:28492532|PMID:29524613|PMID:33996946|PMID:37652022|RGD:8554872 IAGP RGD:151781622 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25611685|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29524613|PMID:30297972|PMID:33996946|RGD:8554872 IAGP RGD:126734943 H myosin binding protein C3 gene taxon:9606 20250701 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25611685|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31229680|PMID:37652022|RGD:8554872 IAGP RGD:9691856 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25611685|PMID:25741868|PMID:27532257|PMID:33673806|RGD:8554872 IAGP RGD:8654893 H myosin binding protein C3 gene taxon:9606 20240507 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25611685|PMID:25741868|PMID:28492532|RGD:8554872 IAGP RGD:8605573 H myosin binding protein C3 gene taxon:9606 20250107 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25741868|PMID:26899768|RGD:8554872 IAGP RGD:14692643 H myosin binding protein C3 gene taxon:9606 20240507 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25741868|PMID:26914223|PMID:27532257|PMID:27600940|PMID:27618852|PMID:28492532|PMID:28790153|PMID:33782553|RGD:8554872 IAGP RGD:21403894 H myosin binding protein C3 gene taxon:9606 20240312 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|RGD:8554872 IAGP RGD:12912665 H myosin binding protein C3 gene taxon:9606 20220420 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|RGD:8554872 IAGP RGD:34895165 H myosin binding protein C3 gene taxon:9606 20230214 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25741868|PMID:26914223|PMID:28492532|RGD:8554872 IAGP RGD:12899941 H myosin binding protein C3 gene taxon:9606 20230808 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25741868|PMID:27267291|PMID:28492532|PMID:30446606|PMID:31730716|PMID:32396390|PMID:32841044|PMID:33781820|PMID:34051236|PMID:35508642|PMID:36264615|PMID:37821546|PMID:38586174|PMID:39260623|PMID:39355877|PMID:41175027|RGD:8554872 IAGP RGD:15017050 H myosin binding protein C3 gene taxon:9606 20260707 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25741868|PMID:27332903|PMID:27600940|PMID:28356264|PMID:28492532|RGD:8554872 IAGP RGD:9832958 H myosin binding protein C3 gene taxon:9606 20210323 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25741868|PMID:27532257|PMID:28255936|PMID:28492532|PMID:28771489|PMID:31901299|PMID:37652022|RGD:8554872 IAGP RGD:8605559 H myosin binding protein C3 gene taxon:9606 20250311 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25741868|PMID:27532257|PMID:28492532|PMID:28518168|RGD:8554872 IAGP RGD:26907449 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25741868|PMID:27532257|PMID:28492532|PMID:29121657|PMID:30105547|PMID:30615648|PMID:36264615|RGD:8554872 IAGP RGD:9832838 H myosin binding protein C3 gene taxon:9606 20260519 ClinVar RGD 1314284 MYBPC3 HP:0001638 PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875424|PMID:30297972|PMID:33782553|PMID:3616643