# RGD-PIPELINE: ftp-file-extracts
# MODULE: annotations-version-1.1.9 (Oct 10, 2019)
# GENERATED-ON: 2025/02/01
# PURPOSE: annotations about active Rat objects extracted from RGD database
# ONTOLOGY: RDO: RGD Disease Ontology
# CONTACT: rgd.data@mcw.edu
# FORMAT: tab delimited text
# NOTES: multiple values in a single column are separated by '|'
#
#COLUMN INFORMATION:
#
#1 RGD_ID unique RGD_ID of the annotated object
#2 OBJECT_SYMBOL official symbol of the annotated object
#3 OBJECT_NAME official name of the annotated object
#4 OBJECT_TYPE annotated object data type: one of ['gene','qtl','strain']
#5 TERM_ACC_ID ontology term accession id
#6 TERM_NAME ontology term name
#7 QUALIFIER optional qualifier
#8 EVIDENCE evidence
#9 WITH with info
#10 ASPECT aspect
#11 REFERENCES db references (Reference RGDID|PUBMED ID)
#12 CREATED_DATE created date
#13 ASSIGNED_BY assigned by
#14 MESH_OMIM_ID MESH:xxx or OMIM:xxx id corresponding to RDO:xxx id found in TERM_ACC_ID column (RGD/CTD Disease Ontology annotations only)
#15 CURATION_NOTES curation notes provided by RGD curators
#16 ORIGINAL_REFERENCE original reference
RGD_ID OBJECT_SYMBOL OBJECT_NAME OBJECT_TYPE TERM_ACC_ID TERM_NAME QUALIFIER EVIDENCE WITH ASPECT REFERENCES CREATED_DATE ASSIGNED_BY MESH_OMIM_ID CURATION_NOTES ORIGINAL_REFERENCE
10002 BBDP/Rhw strain DOID:9008671 T-Lymphocytopenia IMP D RGD:61032|PMID:9530633 20201027 RGD
10002 BBDP/Rhw strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:1598569|PMID:17130479 20210219 RGD
10002 BBDP/Rhw strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:2306526|PMID:19351909 20210219 RGD
10002 BBDP/Rhw strain DOID:9744 type 1 diabetes mellitus MODEL: spontaneous IAGP D RGD:61032|PMID:9530633 20201027 RGD
10002743 DA.E3-(D20Rat42-D20Rat49)/Rhd strain DOID:9002457 Experimental Arthritis severity IAGP XCO:0000265,XCO:0000281 D RGD:737659|PMID:8972741 20200814 RGD compared to LEW.1AV1/Kini
10002743 DA.E3-(D20Rat42-D20Rat49)/Rhd strain DOID:9002457 Experimental Arthritis susceptibility IAGP XCO:0000265 D RGD:737659|PMID:8972741 20200814 RGD
10002745 DA.E3-(D20Rat47-AA858870)/Rhd strain DOID:9002211 Hyperalgesia susceptibility IAGP D RGD:10002747|PMID:20471989 20150423 RGD compared to DA/ZtmRhd
10008 BN/SsNHsd strain DOID:9005396 Intimal Hyperplasia induces IAGP XCO:0000268 D RGD:39456133|PMID:10364562 20210713 RGD compared to SHR
10008 BN/SsNHsd strain DOID:9008939 Breast Neoplasms MODEL: control IAGP XCO:0000092 D RGD:1642522|PMID:16885383 20200317 RGD
10011 COP/OlaHsd strain DOID:3459 breast carcinoma MODEL: control IAGP XCO:0000090 D RGD:61081|PMID:9584103 20200310 RGD
10016 GH/Omr Genetically Hypertensive strain DOID:10763 hypertension IAGP D RGD:2301936|PMID:18925692 20191125 RGD
10016 GH/Omr Genetically Hypertensive strain DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:2301936|PMID:18925692 20191125 RGD associated with hypertension
10017 GK/KyoSwe Goto Kakizaki strain DOID:10603 glucose intolerance IAGP D RGD:61082|PMID:8528247 20200303 RGD
10017 GK/KyoSwe Goto Kakizaki strain DOID:4195 hyperglycemia IAGP D RGD:61082|PMID:8528247 20200303 RGD
10017 GK/KyoSwe Goto Kakizaki strain DOID:9352 type 2 diabetes mellitus MODEL: spontaneous IAGP D RGD:61082|PMID:8528247 20191126 RGD
10021 LH/Mav strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:13513906|PMID:16882881 20200214 RGD compared to LL/Mav
10021 LH/Mav strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:1580389|PMID:8301098 19990101 RGD compared to LN/Mav
10021 LH/Mav strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:2313340|PMID:19462495 20200207 RGD
10021 LH/Mav strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:2316962|PMID:16928787 20191202 RGD compared to LL/Mav
10021 LH/Mav strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:61057|PMID:7981757 19990101 RGD compared to LN/Mav
10021 LH/Mav strain DOID:10763 hypertension MODEL: spontaneous IAGP D RGD:61058|PMID:9329963 20191202 RGD compared to LN/Mav
10021 LH/Mav strain DOID:10763 hypertension induced IAGP XCO:0000241 D RGD:13441562|PMID:18443571 20200403 RGD associated with diabetes mellitus
10021 LH/Mav strain DOID:10763 hypertension treatment IAGP XCO:0000588 D RGD:13441562|PMID:18443571 20191126 RGD associated with diabetes mellitus
10021 LH/Mav strain DOID:2018 hyperinsulinism IAGP D RGD:1580389|PMID:8301098 19990101 RGD compared to LN/Mav
10021 LH/Mav strain DOID:576 proteinuria induced IAGP XCO:0000164 D RGD:2313340|PMID:19462495 20200207 RGD compared to BN/NHsdMcwi
10021 LH/Mav strain DOID:576 proteinuria treatment IAGP XCO:0000588 D RGD:13441561|PMID:18954523 20200221 RGD
10021 LH/Mav strain DOID:9000808 Hypercholesterolemia IAGP D RGD:13441562|PMID:18443571 20191126 RGD compared to LL/Mav
10021 LH/Mav strain DOID:9000808 Hypercholesterolemia IAGP D RGD:1580389|PMID:8301098 19990101 RGD compared to LN/Mav
10021 LH/Mav strain DOID:9004616 Left Ventricular Hypertrophy MODEL: spontaneous IAGP D RGD:13513906|PMID:16882881 20200214 RGD compared to LL/Mav
10021 LH/Mav strain DOID:9004616 Left Ventricular Hypertrophy MODEL: spontaneous IAGP D RGD:2316962|PMID:16928787 20191202 RGD compared to LL/Mav
10021 LH/Mav strain DOID:9004616 Left Ventricular Hypertrophy ameliorates IAGP XCO:0000588 D RGD:13441562|PMID:18443571 20210122 RGD associated with diabetes mellitus
10021 LH/Mav strain DOID:9004616 Left Ventricular Hypertrophy induced IAGP XCO:0000241 D RGD:13441562|PMID:18443571 20200403 RGD associated with diabetes mellitus
10021 LH/Mav strain DOID:9004616 Left Ventricular Hypertrophy treatment IAGP XCO:0000588 D RGD:13441562|PMID:18443571 20200117 RGD associated with diabetes mellitus
10021 LH/Mav strain DOID:9005274 Polyuria MODEL:induced IAGP XCO:0000241 D RGD:13441562|PMID:18443571 20191126 RGD associated with diabetes mellitus
10021 LH/Mav strain DOID:9006599 Hypertriglyceridemia IAGP D RGD:1580389|PMID:8301098 19990101 RGD compared to LN/Mav
10021 LH/Mav strain DOID:9351 diabetes mellitus MODEL: induced IAGP XCO:0000241 D RGD:13441562|PMID:18443571 20191126 RGD compared to LL/Mav
10021 LH/Mav strain DOID:9970 obesity IAGP D RGD:1580389|PMID:8301098 19990101 RGD compared to LN/Mav
10022 LN/Mav strain DOID:10763 hypertension MODEL: control IAGP D RGD:1580389|PMID:8301098 20191203 RGD compared with LH/Mav
10022 LN/Mav strain DOID:10763 hypertension MODEL: control IAGP D RGD:61057|PMID:7981757 20191203 RGD compared with LH/Mav
10022 LN/Mav strain DOID:10763 hypertension MODEL: control IAGP D RGD:61058|PMID:9329963 20191203 RGD compared with LH/Mav
10025 MHS/Gib Milan Hypertensive Strain strain DOID:10763 hypertension IAGP D RGD:126925235|PMID:3611769 20210707 RGD compared to MNS/Gib
10025 MHS/Gib Milan Hypertensive Strain strain DOID:10763 hypertension IAGP D RGD:69692|PMID:11082136 19990101 RGD compared to MNS/Gib
10040 SR/Jr Salt Resistant strain DOID:10763 hypertension MODEL: control IAGP XCO:0000022 D RGD:61040|PMID:9685318 19990101 RGD compared to SS/Jr
10041 SS/Jr Salt Sensitive strain DOID:10763 hypertension IAGP D RGD:634617|PMID:12707388 19990101 RGD
10041 SS/Jr Salt Sensitive strain DOID:10763 hypertension MODEL IAGP D RGD:8657072|PMID:21602714 20210108 RGD compared to congenics with Lewis alleles
10041 SS/Jr Salt Sensitive strain DOID:10763 hypertension MODEL: induced IAGP D RGD:704345|PMID:12939233 20201022 RGD compared to Lewis rat and congenics
10041 SS/Jr Salt Sensitive strain DOID:10763 hypertension MODEL: induced IAGP XCO:0000022 D RGD:61040|PMID:9685318 19990101 RGD compared to SR/Jr, LEW/Ncrl
10041 SS/Jr Salt Sensitive strain DOID:10763 hypertension MODEL: induced IAGP XCO:0000022 D RGD:61516|PMID:11015598 19990101 RGD compared to SS/Jr strain
10041 SS/Jr Salt Sensitive strain DOID:10763 hypertension MODEL: induced IAGP XCO:0000022 D RGD:619649|PMID:11875185 20200109 RGD compared to SS.LEW-(D5Rat130-D5Mco10)/Jr; MMO:0000031
10041 SS/Jr Salt Sensitive strain DOID:10763 hypertension MODEL: induced IAGP XCO:0000022 D RGD:69710|PMID:9383281 19990101 RGD compared to SS.SR-(Cyp11b1)/Jr strain
10041 SS/Jr Salt Sensitive strain DOID:9001542 Albuminuria IAGP D RGD:634617|PMID:12707388 19990101 RGD compared to SHR/NHsd
10041 SS/Jr Salt Sensitive strain DOID:9001747 Ventricular Dysfunction, Left induced IAGP XCO:0000022 D RGD:2301185|PMID:18806617 20100611 RGD
10041 SS/Jr Salt Sensitive strain DOID:9003631 Diastolic Dysfunction induced IAGP XCO:0000022 D RGD:7421631|PMID:19461651 20201215 RGD compared to C2S.M21
10041 SS/Jr Salt Sensitive strain DOID:9004616 Left Ventricular Hypertrophy induced IAGP XCO:0000022 D RGD:2301185|PMID:18806617 20100611 RGD
10041 SS/Jr Salt Sensitive strain DOID:9006024 Hypotension MODEL: control IAGP XCO:0000022 D RGD:7421631|PMID:19461651 20201215 RGD compared to congenics
10043120 BBDP.ACI-(D2Mit8-D2Rat69)/Sunn strain DOID:9744 type 1 diabetes mellitus onset IAGP D RGD:10043114|PMID:24920533 20200302 RGD compared to BBDP/WorSunn and BBDP.ACI-(D2Mit8-D2Arb16)(D2Rat354-D2Rat69)/Sunn
10043122 BBDP.ACI-(D2Mit8-D2Arb16)(D2Rat354-D2Rat69)/Sunn strain DOID:9744 type 1 diabetes mellitus onset IAGP D RGD:10043114|PMID:24920533 20200302 RGD compared to BBDP/WorSunn and BBDP.ACI-(D2Mit8-D2Rat69)/Sunn
10043124 BBDP.ACI-(D2Mit8-D2Arb16)/Sunn strain DOID:9744 type 1 diabetes mellitus onset IAGP D RGD:10043114|PMID:24920533 20200302 RGD compared to BBDP/WorSunn
10043127 BBDP.ACI-(D2Mit8-D2Rat354)/Sunn strain DOID:9744 type 1 diabetes mellitus onset IAGP D RGD:10043114|PMID:24920533 20200302 RGD compared to BBDP/WorSunn
10043132 BBDP.ACI-(D2Rat50-D2Rat63)/Sunn strain DOID:9744 type 1 diabetes mellitus onset IAGP D RGD:10043114|PMID:24920533 20200302 RGD compared to BBDP/WorSunn
10043136 Iddm54 Insulin dependent diabetes mellitus QTL 54 qtl DOID:9744 type 1 diabetes mellitus susceptibility IAGP D RGD:10043114|PMID:24920533 20150617 RGD
10043139 Iddm55 Insulin dependent diabetes mellitus QTL 55 qtl DOID:9744 type 1 diabetes mellitus susceptibility IAGP D RGD:10043114|PMID:24920533 20150617 RGD
10045371 Mir155hg Mir155 host gene gene DOID:3069 malignant astrocytoma severity ISO RGD:1350378 D RGD:11571728|PMID:27764782 20190121 RGD
10045371 Mir155hg Mir155 host gene gene DOID:9005393 Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy ISO RGD:1350378 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy PMID:16369530|PMID:19047566
10045415 Kantr KANTR integral membrane protein gene DOID:12849 autistic disorder ISO RGD:7779000 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
10045545 CDS/Sasz Cohen diabetic-sensitive rat strain DOID:9005643 Experimental Diabetes Mellitus MODEL: induced IAGP XCO:0000014 D RGD:1342468|PMID:11679430 20200205 RGD compared to CDr/Sasz; sexual dimorphism
10045545 CDS/Sasz Cohen diabetic-sensitive rat strain DOID:9351 diabetes mellitus MODEL: induced IAGP XCO:0000014 D RGD:1342468|PMID:11679430 20200205 RGD compared to CDr/Sasz; sexual dimorphism
10045548 CDR/Sasz Cohen diabetic-resistant rat strain DOID:9005643 Experimental Diabetes Mellitus MODEL: control IAGP XCO:0000014 D RGD:1342468|PMID:11679430 20200205 RGD compared to CDS/Sasz; sexual dimorphism
10045548 CDR/Sasz Cohen diabetic-resistant rat strain DOID:9351 diabetes mellitus MODEL: control IAGP XCO:0000014 D RGD:1342468|PMID:11679430 20200205 RGD compared to CDS/Sasz; sexual dimorphism
10045592 Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi gene DOID:11723 Duchenne muscular dystrophy IMP D RGD:11040981|PMID:25005781 20170501 RGD
10045593 W-Dmdem1Kykn strain DOID:11723 Duchenne muscular dystrophy MODEL: spontaneous IMP D RGD:11040981|PMID:25005781 20170501 RGD
10047 WTC/Kyo strain DOID:9000495 Tremor MODEL: control IAGP D RGD:11060746|PMID:25970616 20200910 RGD compared to TRM/Kyo and TRMR/Kyo
10047391 LE/OrlBarth Long-Evans/Cryptorchid strain DOID:11383 cryptorchidism MODEL: spontaneous IAGP D RGD:12911229|PMID:26502805 20180607 RGD
10053596 Foxn1em1Nips forkhead box N1; CRISPR/Cas9 system induced mutant 1, National Institute for Physiological Sciences gene DOID:9004911 Thymus Hyperplasia IMP D RGD:11568681|PMID:26931321 20201210 RGD
10053598 WI-Foxn1em1Nips strain DOID:9004911 Thymus Hyperplasia IMP D RGD:11568681|PMID:26931321 20161212 RGD
10053598 WI-Foxn1em1Nips strain DOID:9004911 Thymus Hyperplasia MODEL:spontaneous IMP D RGD:11568681|PMID:26931321 20161212 RGD
10053599 Foxn1em2Nips forkhead box N1; CRISPR/Cas9 system induced mutant 2, National Institute for Physiological Sciences gene DOID:9004911 Thymus Hyperplasia IMP D RGD:11568681|PMID:26931321 20201210 RGD
10053601 WI-Foxn1em2Nips strain DOID:9004911 Thymus Hyperplasia IMP D RGD:11568681|PMID:26931321 20161212 RGD
10053601 WI-Foxn1em2Nips strain DOID:9004911 Thymus Hyperplasia MODEL:spontaneous IMP D RGD:11568681|PMID:26931321 20161212 RGD
10053700 Scort23 Serum corticosterone level QTL 23 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10053715 Scort24 Serum corticosterone level QTL 24 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10053718 Scort25 Serum corticosterone level QTL 25 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10053720 Scort26 Serum corticosterone level QTL 26 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10053722 Scort27 Serum corticosterone level QTL 27 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10054088 Scort28 Serum corticosterone level QTL 28 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10054123 Srcrt6 Stress Responsive Cort QTL 6 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10054125 Srcrt7 Stress Responsive Cort QTL 7 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10054130 Srcrt8 Stress Responsive Cort QTL 8 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10054132 Srcrt9 Stress Responsive Cort QTL 9 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10054135 Gmadr2 Adrenal mass QTL 2 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10054138 Gmadr3 Adrenal mass QTL 3 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10054141 Gmadr4 Adrenal mass QTL 4 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10054395 Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin gene DOID:14499 Fabry disease IMP D RGD:150429980|PMID:29563343 20211021 RGD compared to wild type
10054395 Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin gene DOID:14499 Fabry disease IMP D RGD:401976416|PMID:29979634 20240321 RGD compared to wild type
10054395 Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin gene DOID:14499 Fabry disease IMP D RGD:401976418|PMID:34320241 20240229 RGD compared to wild type
10054395 Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin gene DOID:14499 Fabry disease IMP D RGD:401976419|PMID:34541380 20240229 RGD compared to wild type
10054395 Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin gene DOID:3211 lysosomal storage disease IMP D RGD:150429980|PMID:29563343 20211021 RGD compared to wild type
10054395 Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin gene DOID:9000641 Pain IMP D RGD:150429980|PMID:29563343 20211021 RGD compared to wild type
10054398 DA-Glaem2Mcwi strain DOID:14499 Fabry disease IMP D RGD:150429980|PMID:29563343 20211020 RGD compared to wild type
10054398 DA-Glaem2Mcwi strain DOID:14499 Fabry disease MODEL IMP D RGD:401976416|PMID:29979634 20240319 RGD compared to wild type
10054398 DA-Glaem2Mcwi strain DOID:14499 Fabry disease MODEL IMP D RGD:401976418|PMID:34320241 20240227 RGD compared to wild type
10054398 DA-Glaem2Mcwi strain DOID:14499 Fabry disease MODEL IMP D RGD:401976419|PMID:34541380 20240227 RGD compared to wild type
10054398 DA-Glaem2Mcwi strain DOID:3211 lysosomal storage disease IMP D RGD:150429980|PMID:29563343 20211020 RGD compared to wild type
10054398 DA-Glaem2Mcwi strain DOID:9000641 Pain IMP D RGD:150429980|PMID:29563343 20211020 RGD compared to wild type
10058949 Gmadr5 Adrenal mass QTL 5 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10058952 Gmadr6 Adrenal mass QTL 6 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10058954 Gmadr7 Adrenal mass QTL 7 qtl DOID:9003968 Stress-Induced Hypertension IAGP D RGD:10053640|PMID:21029000 20150812 RGD
10059587 Bw173 Body weight QTL 173 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD
10059590 Kidm44 Kidney mass QTL 44 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD
10059592 Kidm45 Kidney mass QTL 45 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD
10059594 Kidm46 Kidney mass QTL 46 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD
10059597 Bp377 Blood pressure QTL 377 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD
10059600 Bp378 Blood pressure QTL 378 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD
10059603 Bw174 Body weight QTL 174 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD
10059605 Kidm47 Kidney mass QTL 47 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10053637|PMID:23302051 20150923 RGD
10059729 Baiap3 BAI1-associated protein 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1318052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062
10059729 Baiap3 BAI1-associated protein 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318052 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532
10059729 Baiap3 BAI1-associated protein 3 gene DOID:1826 epilepsy ISO RGD:1318052 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532
10059729 Baiap3 BAI1-associated protein 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318052 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532
10059729 Baiap3 BAI1-associated protein 3 gene DOID:2843 long QT syndrome ISO RGD:1318052 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555
10398753 Crnde colorectal neoplasia differentially expressed gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:4107742 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:33891002
10398754 Mirlet7bhg Mirlet7b host gene gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2304161 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome
10398754 Mirlet7bhg Mirlet7b host gene gene DOID:1324 lung cancer susceptibility ISO RGD:2304161 D RGD:152998959|PMID:26199339 20220708 RGD DNA:SNPs:multiple
10398754 Mirlet7bhg Mirlet7b host gene gene DOID:9005172 Lung Neoplasms ISO RGD:2304161 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:26199339
10401149 Mtln mitoregulin gene DOID:0050795 cone dystrophy ISO RGD:2303856 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:28041643
10401149 Mtln mitoregulin gene DOID:0060041 autism spectrum disorder ISO RGD:2303856 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310
10401149 Mtln mitoregulin gene DOID:0111112 nephronophthisis 1 ISO RGD:2303856 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 PMID:10839884|PMID:10980528|PMID:25741868
10401208 F344-Tg(Prp-APP,Prp-PS1)19/Rrrc strain DOID:680 tauopathy IAGP D RGD:10401209|PMID:23575824 20210115 RGD
10401674 Carmn cardiac mesoderm enhancer-associated non-coding RNA gene DOID:1936 atherosclerosis ISO RGD:5490463 D RGD:155882579|PMID:34289702 20230131 RGD RNA:decreased expression:carotid artery
10401674 Carmn cardiac mesoderm enhancer-associated non-coding RNA gene DOID:1936 atherosclerosis disease_progression ISO RGD:7181169 D RGD:155882579|PMID:34289702 20230131 RGD
10401674 Carmn cardiac mesoderm enhancer-associated non-coding RNA gene DOID:9000146 Plaque, Atherosclerotic ameliorates ISO RGD:7181169 D RGD:155882579|PMID:34289702 20230131 RGD
10401674 Carmn cardiac mesoderm enhancer-associated non-coding RNA gene DOID:9002514 Neointima ameliorates IDA D RGD:155883160|PMID:34694145 20230202 RGD
10401674 Carmn cardiac mesoderm enhancer-associated non-coding RNA gene DOID:9002514 Neointima exacerbates ISO RGD:7181169 D RGD:155883160|PMID:34694145 20230202 RGD
10401674 Carmn cardiac mesoderm enhancer-associated non-coding RNA gene DOID:9006182 Carotid Artery Injuries IEP D RGD:155883160|PMID:34694145 20230202 RGD mRNA:decreased expression:carotid artery:
10401796 Kidm48 Kidney mass QTL 48 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10045846|PMID:25707311 20151007 RGD
10401800 Kidm49 Kidney mass QTL 49 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10045846|PMID:25707311 20151007 RGD
10401803 Kidm50 Kidney mass QTL 50 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10045846|PMID:25707311 20151007 RGD
10401805 Kidm51 Kidney mass QTL 51 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10045846|PMID:25707311 20151007 RGD
10401807 Kidm52 Kidney mass QTL 52 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10045846|PMID:25707311 20151007 RGD
10401810 Kidm53 Kidney mass QTL 53 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10045846|PMID:25707311 20151007 RGD
10401812 Kidm54 Kidney mass QTL 54 qtl DOID:9003968 Stress-Induced Hypertension IDA D RGD:10045846|PMID:25707311 20151007 RGD
10401835 WKY.F344-(D17Got91-D17Rat51)/Tja strain DOID:9006102 Right Ventricular Hypertrophy severity IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD compared to WKY/Cruk; similar to F344/NHsd
10401835 WKY.F344-(D17Got91-D17Rat51)/Tja strain DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced severity IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD compared to WKY/Cruk
10401837 WKY.F344-(D17Got91-D17Rat47)/Tja strain DOID:9006102 Right Ventricular Hypertrophy induced IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD
10401837 WKY.F344-(D17Got91-D17Rat47)/Tja strain DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced induced IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD
10401839 WKY.F344-(D17Rat47-D17Rat51)/Tja strain DOID:9006102 Right Ventricular Hypertrophy severity IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD compared to WKY/Cruk; similar to F344/NHsd
10401839 WKY.F344-(D17Rat47-D17Rat51)/Tja strain DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced severity IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD compared to WKY/Cruk
10401841 WKY.F344-(D17Rat131-D17Rat51)/Tja strain DOID:9006102 Right Ventricular Hypertrophy induced IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD
10401841 WKY.F344-(D17Rat131-D17Rat51)/Tja strain DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced induced IAGP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD
10401842 Slc39a12em77Tja solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman gene DOID:9006102 Right Ventricular Hypertrophy IMP D RGD:10401832|PMID:26258299 20200130 RGD
10401842 Slc39a12em77Tja solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman gene DOID:9006102 Right Ventricular Hypertrophy severity IMP XCO:0000010 D RGD:10401832|PMID:26258299 20201210 RGD
10401842 Slc39a12em77Tja solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced IMP D RGD:10401832|PMID:26258299 20200130 RGD
10401842 Slc39a12em77Tja solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced severity IMP XCO:0000010 D RGD:10401832|PMID:26258299 20201210 RGD
10401845 WKY-Slc39a12em77Tja+/- WKY-Slc39a12em77Tja+/WKY-Slc39a12em77Tja- strain DOID:9006102 Right Ventricular Hypertrophy induced IMP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD
10401845 WKY-Slc39a12em77Tja+/- WKY-Slc39a12em77Tja+/WKY-Slc39a12em77Tja- strain DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced induced IMP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD
10401848 WKY-Slc39a12em77Tja-/- WKY-Slc39a12em77Tja-/WKY-Slc39a12em77Tja- strain DOID:9006102 Right Ventricular Hypertrophy severity IMP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD
10401848 WKY-Slc39a12em77Tja-/- WKY-Slc39a12em77Tja-/WKY-Slc39a12em77Tja- strain DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced severity IMP XCO:0000010 D RGD:10401832|PMID:26258299 20151014 RGD
10401918 BDIX/HanHsd strain DOID:9009121 lung metastasis treatment IAGP D RGD:150527857|PMID:7818325 20211206 RGD
10402051 Gdil2 Gastrointestinal dilation QTL 2 qtl DOID:10487 Hirschsprung's disease severity IDA D RGD:10402048|PMID:25790447 20151014 RGD
10402051 Gdil2 Gastrointestinal dilation QTL 2 qtl DOID:9003546 Total Intestinal Aganglionosis severity IDA D RGD:10402048|PMID:25790447 20151014 RGD
10402855 Bp379 Blood pressure QTL 379 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20151130 RGD
10402857 Bp380 Blood pressure QTL 380 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20151130 RGD
10402859 Bp381 Blood pressure QTL 381 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20151130 RGD
10413846 Abcc6em2Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 2, Qiaoli Li gene DOID:2738 pseudoxanthoma elasticum IMP D RGD:13792593|PMID:28111129 20180920 RGD
10413847 Abcc6em3Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 3, Qiaoli Li gene DOID:2738 pseudoxanthoma elasticum IMP D RGD:13792593|PMID:28111129 20180920 RGD
10413848 Abcc6em4Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 4, Qiaoli Li gene DOID:2738 pseudoxanthoma elasticum IMP D RGD:13792593|PMID:28111129 20180920 RGD
10413852 SD-Abcc6em2Qlju-/- strain DOID:2738 pseudoxanthoma elasticum MODEL: spontaneous IMP D RGD:13792593|PMID:28111129 20180920 RGD
10413854 SD-Abcc6em3Qlju-/- strain DOID:2738 pseudoxanthoma elasticum IMP D RGD:13792593|PMID:28111129 20180920 RGD
10413856 SD-Abcc6em4Qlju-/- strain DOID:2738 pseudoxanthoma elasticum IMP D RGD:13792593|PMID:28111129 20180920 RGD
10450493 Bp382 Blood pressure QTL 382 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20160114 RGD
10450495 Bp383 Blood pressure QTL 383 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20160114 RGD
10450498 Bp384 Blood pressure QTL 384 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20160114 RGD
10450500 Bp385 Blood pressure QTL 385 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20160114 RGD
10450503 Bp386 Blood pressure QTL 386 qtl DOID:10763 hypertension IAGP D RGD:10402053|PMID:25963546 20160114 RGD
10450794 Scl69 Serum cholesterol level QTL 69 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450804 Scl70 Serum cholesterol level QTL 70 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450806 Scl71 Serum cholesterol level QTL 71 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450808 Scl72 Serum cholesterol level QTL 72 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450811 Scl73 Serum cholesterol level QTL 73 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450813 Scl74 Serum cholesterol level QTL 74 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450816 Scl75 Serum cholesterol level QTL 75 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450818 Scl76 Serum cholesterol level QTL 76 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450821 Scl77 Serum cholesterol level QTL 77 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450825 Scl78 Serum cholesterol level QTL 78 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450828 Scl79 Serum cholesterol level QTL 79 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450831 Scl80 Serum cholesterol level QTL 80 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450852 Stl33 Serum triglyceride level QTL 33 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450854 Stl34 Serum triglyceride level QTL 34 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450856 Livw4 Liver weight QTL 4 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450862 Kidm55 Kidney mass QTL 55 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10450865 Bw175 Body weight QTL 175 qtl DOID:1936 atherosclerosis IAGP D RGD:10402111|PMID:25296178 20160122 RGD
10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:10003 sensorineural hearing loss IAGP D RGD:6480217|PMID:21915282 20171206 RGD
10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:10487 Hirschsprung's disease IAGP D RGD:6480215|PMID:22132166 20210218 RGD
10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:10487 Hirschsprung's disease IAGP D RGD:6480217|PMID:21915282 20171206 RGD
10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:614 lymphopenia IAGP D RGD:7207471|PMID:22975636 20171207 RGD
10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:9003546 Total Intestinal Aganglionosis IAGP D RGD:6480215|PMID:22132166 20210218 RGD
10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:9003546 Total Intestinal Aganglionosis IAGP D RGD:6480217|PMID:21915282 20210218 RGD
10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:9005027 Waardenburg Syndrome Type 4 IAGP D RGD:6480217|PMID:21915282 20210218 RGD
10755424 Ednrbsl endothelin receptor type B, spotting lethal gene DOID:9005660 Hypopigmentation IAGP D RGD:10755346|PMID:26796131 20210218 RGD compared to AR-Ednrbsl/Hkv
10755430 Coatc6 Coat color QTL 6 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD
10755434 Coatc7 Coat color QTL 7 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD
10755436 Coatc8 Coat color QTL 8 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD
10755438 Coatc9 Coat color QTL 9 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD
10755440 Coatc10 Coat color QTL 10 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD
10755451 Coatc11 Coat color QTL 11 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD
10755453 Coatc12 Coat color QTL 12 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD
10755455 Coatc13 Coat color QTL 13 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD
10755457 Coatc14 Coat color QTL 14 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD
10755459 Coatc15 Coat color QTL 15 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD
10755461 Coatc16 Coat color QTL 16 qtl DOID:10123 pigmentation disease IAGP D RGD:10755346|PMID:26796131 20160128 RGD
10755495 Bp387 Blood pressure QTL 387 qtl DOID:10763 hypertension IAGP D RGD:10755344|PMID:22912817 20160202 RGD
10755497 Bp388 Blood pressure QTL 388 qtl DOID:10763 hypertension IAGP D RGD:10755344|PMID:22912817 20160202 RGD
10755499 Bp389 Blood pressure QTL 389 qtl DOID:10763 hypertension IAGP D RGD:10755344|PMID:22912817 20160202 RGD
10755501 Bp390 Blood pressure QTL 390 qtl DOID:10763 hypertension IAGP D RGD:10755344|PMID:22912817 20160202 RGD
10755503 Bp391 Blood pressure QTL 391 qtl DOID:10763 hypertension IAGP D RGD:10755344|PMID:22912817 20160202 RGD
11040521 SHR-Ndufc2em2Mcwi-/+ SHR-Ndufc2em2Mcwi-/Ndufc2em2Mcwi+ strain DOID:9007096 Stroke induced IMP XCO:0000022, XCO:0000032, XCO:0000030 D RGD:11040458|PMID:26888427 20160812 RGD
11040962 F344-Bscl2m1Kyo strain DOID:14227 azoospermia IMP D RGD:11085488|PMID:25934999 20190109 RGD
11040962 F344-Bscl2m1Kyo strain DOID:9007692 Insulin Resistance IMP D RGD:11085488|PMID:25934999 20190109 RGD
11052049 Igkv8-30l1 immunoglobulin kappa chain variable 8-30 like 1 gene DOID:0080600 COVID-19 ISO RGD:1346817 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
11081149 SD-Esr2em1Soar strain DOID:9007456 Female Infertility IMP D RGD:38548924|PMID:28520870 20200825 RGD
11081177 F344tl toothless (tl) strain DOID:13533 osteopetrosis IAGP D RGD:628338|PMID:12379742 20180430 RGD
11081177 F344tl toothless (tl) strain DOID:9007083 Edentulous Mouth IAGP D RGD:628338|PMID:12379742 20180430 RGD
11353947 Bp392 Blood pressure QTL 392 qtl DOID:10763 hypertension IAGP D RGD:11353859|PMID:27113531 20170424 RGD
11353949 Bp393 Blood pressure QTL 393 qtl DOID:10763 hypertension IAGP D RGD:11353859|PMID:27113531 20170424 RGD
11353951 Bp394 Blood pressure QTL 394 qtl DOID:10763 hypertension IAGP D RGD:11353859|PMID:27113531 20170424 RGD
11353957 Bmd92 Bone mineral density QTL 92 qtl DOID:11476 osteoporosis IAGP D RGD:11353859|PMID:27113531 20170424 RGD
11362385 Mindy4b MINDY family member 4B gene DOID:0050579 glycogen storage disease XV ISO RGD:2306135 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532
11362919 Igkvl-ps13 immunoglobulin kappa variable like, pseudogene 13 gene DOID:0080600 COVID-19 ISO RGD:1349672 D RGD:9068941 20210730 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
11368541 Pcdhb15 protocadherin beta 15 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1314071 D RGD:8554872 20230126 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532
11368541 Pcdhb15 protocadherin beta 15 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314071 D RGD:8554872 20230126 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
11368541 Pcdhb15 protocadherin beta 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314071 D RGD:8554872 20230126 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
11368541 Pcdhb15 protocadherin beta 15 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314071 D RGD:8554872 20230126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
11376545 Pcdhb13 protocadherin beta 13 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321102 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532
11376545 Pcdhb13 protocadherin beta 13 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
11376545 Pcdhb13 protocadherin beta 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321102 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
11376545 Pcdhb13 protocadherin beta 13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
11378340 Rtl1 retrotransposon-like 1 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602404 D RGD:8554872 20160906 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563
11382285 Ceacam15 CEA cell adhesion molecule 15 gene DOID:0061010 craniosynostosis 1 ISO RGD:1605603 D RGD:8554872 20241203 ClinVar ClinVar Annotator: match by term: TWIST1-related craniosynostosis PMID:28492532
11382285 Ceacam15 CEA cell adhesion molecule 15 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605603 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532
11382285 Ceacam15 CEA cell adhesion molecule 15 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1605603 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532
11382285 Ceacam15 CEA cell adhesion molecule 15 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1605603 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532
11382285 Ceacam15 CEA cell adhesion molecule 15 gene DOID:9269 maple syrup urine disease ISO RGD:1605603 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532
11384366 Vps37c VPS37C subunit of ESCRT-I gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1605989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532
11384366 Vps37c VPS37C subunit of ESCRT-I gene DOID:1059 intellectual disability ISO RGD:1605989 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
11384727 Smim43 small integral membrane protein 43 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1604239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532
11384727 Smim43 small integral membrane protein 43 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604239 D RGD:8554872 20210202 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
11384727 Smim43 small integral membrane protein 43 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604239 D RGD:11554173 20210209 CTD CTD Direct Evidence: marker/mechanism PMID:28869590
11411272 C10h5orf58 similar to human chromosome 5 open reading frame 58 gene DOID:0111951 immunodeficiency 40 ISO RGD:3403707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532
11411272 C10h5orf58 similar to human chromosome 5 open reading frame 58 gene DOID:9008093 Immunodeficiency 81 ISO RGD:3403707 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Immunodeficiency 81 PMID:25741868
11414885 Hoxa1 homeobox A1 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:737614 D RGD:11553818|PMID:18412118 20170210 RGD DNA:mutations:cds:185delG,175-176insG,76C>T(human)
11414885 Hoxa1 homeobox A1 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:737614 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:24239177
11414885 Hoxa1 homeobox A1 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:737614 D RGD:7240710 20170210 OMIM
11414885 Hoxa1 homeobox A1 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:737614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome PMID:16155570|PMID:18412118|PMID:25741868|PMID:28492532
11414885 Hoxa1 homeobox A1 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISS RGD:732851 D RGD:13592920 20230718 MouseDO OMIM:601536
11414885 Hoxa1 homeobox A1 gene DOID:0060041 autism spectrum disorder no_association ISO RGD:737614 D RGD:11553826|PMID:14681917 20170210 RGD DNA:missense mutation:cds:218A>G(human)
11414885 Hoxa1 homeobox A1 gene DOID:1059 intellectual disability ISO RGD:737614 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532
11414885 Hoxa1 homeobox A1 gene DOID:12849 autistic disorder ISO RGD:737614 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:11091361
11414885 Hoxa1 homeobox A1 gene DOID:12849 autistic disorder susceptibility ISO RGD:737614 D RGD:1358730|PMID:14960295 20170210 RGD DNA:missense mutation:cds:p.H73R (human)
11414885 Hoxa1 homeobox A1 gene DOID:1682 congenital heart disease ISO RGD:737614 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:21940751
11414885 Hoxa1 homeobox A1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737614 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
11414885 Hoxa1 homeobox A1 gene DOID:630 genetic disease ISO RGD:737614 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
11414885 Hoxa1 homeobox A1 gene DOID:9003270 Microtia-Anotia ISO RGD:13932952 D RGD:9068941 20210604 OMIA Microtia PMID:26035869
11414885 Hoxa1 homeobox A1 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:737614 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate PMID:25741868
11414885 Hoxa1 homeobox A1 gene DOID:9006534 Nervous System Malformations ISO RGD:737614 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:10529420
11414885 Hoxa1 homeobox A1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737614 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:10529420
11422907 Hs3st4 heparan sulfate-glucosamine 3-sulfotransferase 4 gene DOID:670 amphetamine abuse ISO RGD:1352921 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681
11425062 Zftraf1 zinc finger TRAF type containing 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1344193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526
11425062 Zftraf1 zinc finger TRAF type containing 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1344193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526
11425062 Zftraf1 zinc finger TRAF type containing 1 gene DOID:1059 intellectual disability ISO RGD:1344193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:30787422
11425062 Zftraf1 zinc finger TRAF type containing 1 gene DOID:4621 holoprosencephaly ISO RGD:1344193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532
11425062 Zftraf1 zinc finger TRAF type containing 1 gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:1344193 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835
11425062 Zftraf1 zinc finger TRAF type containing 1 gene DOID:9004263 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY ISO RGD:1344193 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay
11426996 Mymx myomixer, myoblast fusion factor gene DOID:9004768 Carey-Fineman-Ziter Syndrome 2 ISO RGD:12904116 D RGD:7240710 20220706 OMIM
11426996 Mymx myomixer, myoblast fusion factor gene DOID:9004768 Carey-Fineman-Ziter Syndrome 2 ISO RGD:12904116 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 PMID:35642635
11428339 Hsfx3l heat shock transcription factor family, X-linked member 3 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:12801022 D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845
11428339 Hsfx3l heat shock transcription factor family, X-linked member 3 like gene DOID:12849 autistic disorder ISO RGD:12801022 D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
11434685 Evx1 even-skipped homeobox 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344299 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
11436036 Prss48 serine protease 48 gene DOID:4990 essential tremor ISO RGD:1605534 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834
11436072 Flywch2 FLYWCH family member 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1602659 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532
11436072 Flywch2 FLYWCH family member 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532
11436072 Flywch2 FLYWCH family member 2 gene DOID:1826 epilepsy ISO RGD:1602659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532
11436072 Flywch2 FLYWCH family member 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602659 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532
11442159 Spacdr sperm acrosome developmental regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602147 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
11451771 Dmrtc1a DMRT-like family C1a gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346508 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
11451771 Dmrtc1a DMRT-like family C1a gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1346508 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048
11451771 Dmrtc1a DMRT-like family C1a gene DOID:0111823 autosomal hemophilia A ISO RGD:1346508 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
11451771 Dmrtc1a DMRT-like family C1a gene DOID:12134 factor VIII deficiency ISO RGD:1346508 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
11451771 Dmrtc1a DMRT-like family C1a gene DOID:12849 autistic disorder ISO RGD:1346508 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
11451771 Dmrtc1a DMRT-like family C1a gene DOID:8445 intestinal volvulus ISO RGD:1346508 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868
11451771 Dmrtc1a DMRT-like family C1a gene DOID:9008419 Volvulus Of Midgut ISO RGD:1346508 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868
11452860 Igsf22 immunoglobulin superfamily member 22 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1601807 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:12642359|PMID:14567970|PMID:16352453|PMID:20087448|PMID:28492532|PMID:34558151
11452860 Igsf22 immunoglobulin superfamily member 22 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1601807 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532
11452860 Igsf22 immunoglobulin superfamily member 22 gene DOID:1059 intellectual disability ISO RGD:1601807 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351399 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351399 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1351399 D RGD:7240710 20230802 OMIM
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1351399 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: ALG13-related condition | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 PMID:16199547|PMID:17576681|PMID:22492991|PMID:23033978|PMID:23934111|PMID:24476948|PMID:24781210|PMID:24896178|PMID:25640679|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26467025|PMID:26482601|PMID:27781031|PMID:28397838|PMID:28492532|PMID:28777499|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437|PMID:35899201|PMID:9536098
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:0111823 autosomal hemophilia A ISO RGD:1351399 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:1059 intellectual disability ISO RGD:1351399 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:10907 microcephaly ISO RGD:1351399 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:12134 factor VIII deficiency ISO RGD:1351399 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:12849 autistic disorder ISO RGD:1351399 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:1826 epilepsy ISO RGD:1351399 D RGD:11554173 20230808 CTD CTD Direct Evidence: marker/mechanism PMID:29942082
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:1826 epilepsy ISO RGD:1351399 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Seizure PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1351399 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:32681751|PMID:33734437
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:5419 schizophrenia ISO RGD:1351399 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:630 genetic disease ISO RGD:1351399 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:23934111|PMID:24476948|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26467025|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:9001793 Generalized Epilepsy ISO RGD:1351399 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351399 D RGD:11554173 20230808 CTD CTD Direct Evidence: marker/mechanism PMID:29942082
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:9005603 Muscle Hypotonia ISO RGD:1351399 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:9007 sudden infant death syndrome ISO RGD:1351399 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868
11453602 Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1351399 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32681751
11463329 Gng5-ps4 G protein subunit gamma 5, pseudogene 4 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1626539 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
11463329 Gng5-ps4 G protein subunit gamma 5, pseudogene 4 gene DOID:12849 autistic disorder ISO RGD:1626539 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
11463329 Gng5-ps4 G protein subunit gamma 5, pseudogene 4 gene DOID:5419 schizophrenia ISO RGD:1626539 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
11468112 Hoxa2 homeobox A2 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:1353431 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome PMID:25741868
11468112 Hoxa2 homeobox A2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353431 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
11468112 Hoxa2 homeobox A2 gene DOID:630 genetic disease ISO RGD:1353431 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868
11468112 Hoxa2 homeobox A2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353431 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:17786296
11468112 Hoxa2 homeobox A2 gene DOID:9001502 Congenital Microtia ISO RGD:1353431 D RGD:11553827|PMID:18394579 20170210 RGD DNA:missense mutation:cds:c.558C>A(p.Q186K)(human)
11468112 Hoxa2 homeobox A2 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:1353431 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:24239177
11468112 Hoxa2 homeobox A2 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:1353431 D RGD:7240710 20170210 OMIM
11468112 Hoxa2 homeobox A2 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:1353431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate PMID:18394579|PMID:23775976|PMID:25691070|PMID:25741868
11469006 Sprr2a2 small proline-rich protein 2A2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1354484 D RGD:8554872 20230321 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532
11469006 Sprr2a2 small proline-rich protein 2A2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1354484 D RGD:8554872 20230321 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532
11469006 Sprr2a2 small proline-rich protein 2A2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1354484 D RGD:8554872 20230321 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532
11469006 Sprr2a2 small proline-rich protein 2A2 gene DOID:1540 parathyroid carcinoma ISO RGD:1354484 D RGD:8554872 20230321 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
11469006 Sprr2a2 small proline-rich protein 2A2 gene DOID:5812 MHC class II deficiency ISO RGD:1354484 D RGD:8554872 20230321 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532
11469006 Sprr2a2 small proline-rich protein 2A2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354484 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
11469551 Fam180b family with sequence similarity 180 member B gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:2298817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532
11469551 Fam180b family with sequence similarity 180 member B gene DOID:1059 intellectual disability ISO RGD:2298817 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
11474175 Vsig10l2 V-set and immunoglobulin domain containing 10 like 2 gene DOID:5419 schizophrenia ISO RGD:12801887 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
11479453 Mtcl3 MTCL family member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1347447 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868
11492646 Pcdhb16 protocadherin beta 16 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343753 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532
11492646 Pcdhb16 protocadherin beta 16 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
11492646 Pcdhb16 protocadherin beta 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343753 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
11492646 Pcdhb16 protocadherin beta 16 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
11496573 Gpr32 G protein-coupled receptor 32 gene DOID:0060041 autism spectrum disorder ISO RGD:1343074 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546
11496771 Smim40 small integral membrane protein 40 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:14700595 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532
11498829 Eps8l3 EPS8 signaling adaptor L3 gene DOID:0110702 hypotrichosis 5 ISO RGD:1318007 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
11498829 Eps8l3 EPS8 signaling adaptor L3 gene DOID:0110702 hypotrichosis 5 ISO RGD:1318007 D RGD:7240710 20200408 OMIM
11498829 Eps8l3 EPS8 signaling adaptor L3 gene DOID:0110702 hypotrichosis 5 ISO RGD:1318007 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: EPS8L3-related condition | ClinVar Annotator: match by term: Hypotrichosis 5 PMID:15347323|PMID:23099647|PMID:25741868|PMID:28492532
11498829 Eps8l3 EPS8 signaling adaptor L3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1318007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532
11498829 Eps8l3 EPS8 signaling adaptor L3 gene DOID:12849 autistic disorder ISO RGD:1318007 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
11498829 Eps8l3 EPS8 signaling adaptor L3 gene DOID:684 hepatocellular carcinoma ISO RGD:1318007 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560
11498829 Eps8l3 EPS8 signaling adaptor L3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318007 D RGD:11554173 20170210 CTD CTD Direct Evidence: marker/mechanism PMID:19223546
11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:2717 Bloom syndrome ISO RGD:1606331 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:3910 lung adenocarcinoma ISO RGD:1606331 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772
11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9000998 Brain Injuries IEP D RGD:10401136|PMID:24385964 20170210 RGD
11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1606331 D RGD:10401133|PMID:19054144 20170210 RGD
11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9004590 Acute Liver Failure ISO RGD:1606331 D RGD:11554173 20220607 CTD CTD Direct Evidence: marker/mechanism PMID:35172013
11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9006205 Animal Disease Models ISO RGD:1606331 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772
11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606331 D RGD:11554173 20170613 CTD CTD Direct Evidence: marker/mechanism PMID:25944804
11508551 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9256 colorectal cancer ISO RGD:1606331 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
11530004 Niddm71 Non-insulin dependent diabetes mellitus QTL 71 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:11528530|PMID:27463508 20170424 RGD
11530006 Niddm72 Non-insulin dependent diabetes mellitus QTL 72 qtl DOID:9352 type 2 diabetes mellitus IAGP D RGD:11528530|PMID:27463508 20170424 RGD
11530008 CDS.CDR-(D4Rat9-D4Rat153)/Ygl strain DOID:9352 type 2 diabetes mellitus onset IAGP D RGD:11528530|PMID:27463508 20160818 RGD
11530011 CDS.SBN-(D13Rat85-D13Mit4)/Ygl strain DOID:9352 type 2 diabetes mellitus MODEL: disease progression IAGP D RGD:11528530|PMID:27463508 20160818 RGD
11531091 SD-F8em1Sage-/-/Novo strain DOID:12134 factor VIII deficiency MODEL: spontaneous IMP D RGD:11530071|PMID:24931420 20160825 RGD
11531091 SD-F8em1Sage-/-/Novo strain DOID:12134 factor VIII deficiency treatment IMP D RGD:150520060|PMID:31899798 20211026 RGD
11531091 SD-F8em1Sage-/-/Novo strain DOID:801 hemarthrosis treatment IMP D RGD:150520060|PMID:31899798 20211026 RGD
11531091 SD-F8em1Sage-/-/Novo strain DOID:9004755 Hemophilic Arthropathy treatment IMP D RGD:150520059|PMID:27060449 20211026 RGD
11531096 F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage gene DOID:12134 factor VIII deficiency IMP D RGD:11530071|PMID:24931420 20190711 RGD
11531096 F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage gene DOID:12134 factor VIII deficiency treatment IMP D RGD:150520060|PMID:31899798 20211028 RGD
11531096 F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage gene DOID:801 hemarthrosis treatment IMP D RGD:150520060|PMID:31899798 20211028 RGD
11531096 F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage gene DOID:9004755 Hemophilic Arthropathy treatment IMP D RGD:150520059|PMID:27060449 20211028 RGD
11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:2697 renal adenoma IAGP D RGD:1302456|PMID:11509115 20201214 RGD
11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:686 liver carcinoma IAGP D RGD:1302456|PMID:11509115 20201214 RGD
11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:893 Wilson disease IAGP D RGD:2292672|PMID:17303181 20170628 RGD
11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:893 Wilson disease IAGP D RGD:631728|PMID:7951327 20170628 RGD
11532742 Atp7bhts ATPase copper transporting beta; hepatitis gene DOID:9007188 Liver Neoplasms onset IAGP D RGD:1302456|PMID:11509115 20210218 RGD compared to LEC/Tj;
11534996 Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease gene DOID:0080322 polycystic kidney disease IAGP D RGD:1300446|PMID:7933831 20170412 RGD
11534996 Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease gene DOID:0080322 polycystic kidney disease IMP D RGD:7207426|PMID:21119215 20160919 RGD
11534996 Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease gene DOID:4676 uremia IAGP D RGD:1300446|PMID:7933831 20210211 RGD
11534996 Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease gene DOID:576 proteinuria IAGP D RGD:1300446|PMID:7933831 20210211 RGD
11535000 PKD/Mhm PKD strain DOID:0080322 polycystic kidney disease MODEL: spontaneous IAGP D RGD:11534987|PMID:16207829 20160919 RGD
11535031 SD-Tg(hCMV-Anks6PKD)Mhm strain DOID:0080322 polycystic kidney disease MODEL: spontaneous IMP D RGD:7207426|PMID:21119215 20160919 RGD
11535943 Pkhd1pck polycystic kidney and hepatic disease 1,polycystic kidney disease gene DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:70439|PMID:11919560 20160923 RGD
11535955 Crlj:CD(SD) strain DOID:8947 diabetic retinopathy MODEL: control IAGP D RGD:628479|PMID:11469401 20200130 RGD compared to SDT/Jcl
11535955 Crlj:CD(SD) strain DOID:9351 diabetes mellitus MODEL: control IAGP D RGD:628479|PMID:11469401 20200130 RGD compared to SDT/Jcl
11553911 Trpc6em1Mcwi transient receptor potential cation channel, subfamily C, member 6; CRISPR/Cas9 induced mutant 1, Medical College of Wisconsin gene DOID:9002165 Diabetic Nephropathies induces IAGP XCO:0000245,XCO:0000241 D RGD:149735534|PMID:29923767 20210729 RGD
11553912 SS-Trpc6em1Mcwi strain DOID:9002165 Diabetic Nephropathies induces IAGP XCO:0000245,XCO:0000241 D RGD:149735534|PMID:29923767 20210726 RGD
11553913 Shc1em4Mcwi SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin gene DOID:0050851 glomerulosclerosis ameliorates IMP D RGD:12792230|PMID:27270176 20210409 RGD
11553913 Shc1em4Mcwi SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin gene DOID:9001542 Albuminuria ameliorates IMP D RGD:12792230|PMID:27270176 20210409 RGD
11553914 SS-Shc1em4Mcwi strain DOID:0050851 glomerulosclerosis ameliorates IMP D RGD:12792230|PMID:27270176 20210409 RGD compared to SS/JrHsdMcwi
11553914 SS-Shc1em4Mcwi strain DOID:9001542 Albuminuria ameliorates IMP D RGD:12792230|PMID:27270176 20210409 RGD compared to SS/JrHsdMcwi
11553915 Shc1em5Mcwi SHC adaptor protein 1; ZFN induced mutant 5, Medical College of Wisconsin gene DOID:9003234 Hypertensive Nephropathy IMP D RGD:12792230|PMID:27270176 20200131 RGD
11553916 SS-Shc1em5Mcwi strain DOID:9003234 Hypertensive Nephropathy induced IMP XCO:0000022 D RGD:12792230|PMID:27270176 20200131 RGD
11554327 BDIX.BDIV-D10Mit3-D10Mgh16/Zte strain DOID:3192 neurilemmoma resistant IAGP D RGD:11554205|PMID:26530423 20161026 RGD
11554329 BDIX.BDIV-D10Got1-D10Rat45/Zte strain DOID:3192 neurilemmoma resistant IAGP D RGD:11554205|PMID:26530423 20161026 RGD
11564348 Aspaem34Kyo aspartoacylase;TALEN induced mutant 34,Kyo gene DOID:4990 essential tremor IGI RGD:150429632 D RGD:150429620|PMID:32507787 20220225 RGD
11564348 Aspaem34Kyo aspartoacylase;TALEN induced mutant 34,Kyo gene DOID:9000495 Tremor IMP D RGD:13464274|PMID:27026062 20180103 RGD associated with Hcn1A354V allele
11564350 SCR/Sscr Shumiya Cataract Rat strain DOID:83 cataract IAGP D RGD:1626611|PMID:16440058 20210521 RGD
11565090 Ccdc85cem1Kyo coiled-coil domain containing 85C; TALEN induced mutant1,Kyo gene DOID:10908 hydrocephalus IMP D RGD:150520163|PMID:31341137 20211104 RGD
11565091 F344-Ccdc85cem1Kyo strain DOID:10908 hydrocephalus IMP D RGD:150520163|PMID:31341137 20211028 RGD
11567272 SD-Mecp2em1Sage strain DOID:1206 Rett syndrome IMP D RGD:11568037|PMID:27313794 20210318 RGD
11568035 Mecp2em1Sage methyl CpG binding protein 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:1206 Rett syndrome IMP D RGD:11568037|PMID:27313794 20210325 RGD
11568040 SD-Fmr1em1Sage strain DOID:0060041 autism spectrum disorder MODEL IMP D RGD:9831152|PMID:24773431 20170921 RGD
11568040 SD-Fmr1em1Sage strain DOID:14261 fragile X syndrome IMP D RGD:401976434|PMID:36536454 20240321 RGD
11568040 SD-Fmr1em1Sage strain DOID:14261 fragile X syndrome MODEL IMP D RGD:38548926|PMID:27465362 20200922 RGD compared to SD control;DNA:deletion:intron 7, exon 8:
11568040 SD-Fmr1em1Sage strain DOID:14261 fragile X syndrome MODEL IMP D RGD:38548928|PMID:30877790 20200922 RGD compared to SD control;DNA:deletion:intron 7, exon 8:
11568041 Fmr1em1Sage FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:0060041 autism spectrum disorder IMP D RGD:9831152|PMID:24773431 20170921 RGD
11568041 Fmr1em1Sage FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:14261 fragile X syndrome IMP D RGD:38548926|PMID:27465362 20200922 RGD DNA:deletion:intron 7, exon 8:
11568041 Fmr1em1Sage FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:14261 fragile X syndrome IMP D RGD:38548928|PMID:30877790 20201210 RGD compared to SD control;DNA:deletion:intron 7, exon 8:
11568041 Fmr1em1Sage FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:14261 fragile X syndrome IMP D RGD:401976434|PMID:36536454 20240328 RGD
11568058 SD-Nrxn1em1Sage strain DOID:0060041 autism spectrum disorder IMP D RGD:12914797|PMID:25420124 20210521 RGD
11568059 Nrxn1em1 neurexin 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:0060041 autism spectrum disorder IMP D RGD:12914797|PMID:25420124 20210527 RGD
11568646 SD-Cntnap2em1Sage strain DOID:0060041 autism spectrum disorder IMP D RGD:126790476|PMID:30126973 20210422 RGD
11568646 SD-Cntnap2em1Sage strain DOID:1826 epilepsy IMP D RGD:12880397|PMID:28364455 20170505 RGD
11568647 Cntnap2em1Sage contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:0060041 autism spectrum disorder IMP D RGD:126790476|PMID:30126973 20210429 RGD
11568647 Cntnap2em1Sage contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:1826 epilepsy IMP D RGD:12880397|PMID:28364455 20170505 RGD
11568700 SD-Nlgn3em1Sage strain DOID:0060041 autism spectrum disorder IMP D RGD:126790492|PMID:28958035 20210423 RGD
11568700 SD-Nlgn3em1Sage strain DOID:0060041 autism spectrum disorder MODEL IMP D RGD:9831152|PMID:24773431 20170921 RGD
11568701 Nlgn3em1Sage neuroligin 3; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:0060041 autism spectrum disorder IMP D RGD:126790492|PMID:28958035 20210429 RGD
11568701 Nlgn3em1Sage neuroligin 3; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:0060041 autism spectrum disorder IMP D RGD:9831152|PMID:24773431 20170921 RGD
11570416 Krt71Rex keratin 71; autosomal dominant Rex gene DOID:987 alopecia IAGP D RGD:11570415|PMID:20179389 20211028 RGD DNA:deletion:cds:intron 1, p.Val149_Gln154 del
11667077 SD-Esr2em2Soar strain DOID:9007456 Female Infertility IMP D RGD:38548924|PMID:28520870 20200825 RGD
11667081 BDIV-Myo5a/StcRrrc strain DOID:0050890 synucleinopathy IAGP D RGD:42721980|PMID:29217155 20210302 RGD compared to control BD-IV
11667081 BDIV-Myo5a/StcRrrc strain DOID:0050890 synucleinopathy IAGP D RGD:42722007|PMID:22639889 20210301 RGD compared to control BD-IV
11667081 BDIV-Myo5a/StcRrrc strain DOID:0050890 synucleinopathy MODEL: spontaneous IAGP D RGD:41412185|PMID:27771352 20210302 RGD compared to control BD-IV
11667088 SD-Esr1em1Soar strain DOID:5223 infertility IMP D RGD:8552987|PMID:24506075 20170623 RGD
124713544 W-Cyp27b1em1Thka strain DOID:0080886 vitamin D-dependent rickets type 1A treatment IMP XCO:0000545 D RGD:32716373|PMID:32231239 20210323 RGD
124713545 Cyp27b1em1Thka cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka gene DOID:0080886 vitamin D-dependent rickets type 1A treatment IMP XCO:0000545 D RGD:32716373|PMID:32231239 20210325 RGD
124713546 W-Vdrem1Thka strain DOID:0080884 vitamin D-dependent rickets type 2A treatment IMP XCO:0000545 D RGD:32716373|PMID:32231239 20210323 RGD
124713547 Vdrem1Thka vitamin D receptor; CRISPR/Cas9 induced mutant 1, Thka gene DOID:0080884 vitamin D-dependent rickets type 2A treatment IMP XCO:0000545 D RGD:32716373|PMID:32231239 20210325 RGD
124713548 W-Vdrem2Thka strain DOID:0080884 vitamin D-dependent rickets type 2A treatment IMP XCO:0000545 D RGD:32716373|PMID:32231239 20210323 RGD compared to untreated Vdr mutant
124713550 Vdrem2Thka vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka gene DOID:0080884 vitamin D-dependent rickets type 2A treatment IMP XCO:0000545 D RGD:32716373|PMID:32231239 20210325 RGD compared to untreated vdr KO
124715480 Fmr1em1Mzhe FMRP translational regulator 1; CRISPR/Cas9 induced mutant1, Mzhe gene DOID:14261 fragile X syndrome IMP D RGD:38501107|PMID:28894415 20210329 RGD
125097486 SD-Nr3c1em1Kuan strain DOID:1596 depressive disorder sexual_dimorphism IMP D RGD:407571699|PMID:31329100 20241104 RGD
125097487 Nr3c1em1Kuan nuclear receptor subfamily 3, group C, member 1; CRISPR/Cas9 induced mutant1, Kuan gene DOID:1596 depressive disorder sexual_dimorphism IMP D RGD:407571699|PMID:31329100 20241107 RGD
126777684 WI-Mkxem1Asah strain DOID:9003295 Heterotopic Ossification IMP D RGD:40924660|PMID:27370800 20210409 RGD compared to Wistar
126777685 Mkxem1Asah mohawk homeobox; CRISPR/Cas9 system induced mutant 1, Asah gene DOID:9003295 Heterotopic Ossification IMP D RGD:40924660|PMID:27370800 20210415 RGD compared to Wistar
126777687 WKY-Dnd1ter/Ztm strain DOID:3305 teratocarcinoma IAGP D RGD:40924659|PMID:22655094 20210412 RGD compared to WKY
126779578 LOU/MWsl strain DOID:3720 extramedullary plasmacytoma MODEL: induced IAGP D RGD:39938850|PMID:6744286 20201014 RGD
126779578 LOU/MWsl strain DOID:3720 extramedullary plasmacytoma MODEL: induced IAGP XCO:0000779 D RGD:125093741|PMID:6585590 20210330 RGD rat IgM immunocytoma cells from LOU/C
126779578 LOU/MWsl strain DOID:3720 extramedullary plasmacytoma treatment IAGP D RGD:39938850|PMID:6744286 20201014 RGD
126779578 LOU/MWsl strain DOID:9001542 Albuminuria induced IAGP D RGD:45073132|PMID:3456068 20210312 RGD
126779578 LOU/MWsl strain DOID:9006810 Drug-Related Side Effects and Adverse Reactions induced IAGP D RGD:45073132|PMID:3456068 20210312 RGD
126779591 SD-Csf1rtm(EGFP)-/-/Tset strain DOID:0080006 bone development disease IMP D RGD:41404725|PMID:30249809 20210413 RGD
126779591 SD-Csf1rtm(EGFP)-/-/Tset strain DOID:5223 infertility IMP D RGD:41404725|PMID:30249809 20210413 RGD
126779591 SD-Csf1rtm(EGFP)-/-/Tset strain DOID:614 lymphopenia IMP D RGD:41404725|PMID:30249809 20210413 RGD
126781692 Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset gene DOID:0080006 bone development disease IMP D RGD:41404725|PMID:30249809 20210416 RGD
126781692 Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset gene DOID:5223 infertility IMP D RGD:41404725|PMID:30249809 20210416 RGD
126781692 Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset gene DOID:614 lymphopenia IMP D RGD:41404725|PMID:30249809 20210416 RGD
126790464 SD-Ube3aem1Jue strain DOID:1932 Angelman syndrome IMP D RGD:126790466|PMID:32066685 20210422 RGD
126790465 Ube3aem1Jue ubiquitin protein ligase E3A; CRISPR/Cas9 induced mutant1, Jue gene DOID:1932 Angelman syndrome IMP D RGD:126790466|PMID:32066685 20210429 RGD
126790496 SD-Shank2em13Sage strain DOID:0060041 autism spectrum disorder IMP D RGD:126790534|PMID:29970986 20210426 RGD
126790499 Shank2em13Sage SH3 and multiple ankyrin repeat domains 2; ZFN induced mutant13, Sage gene DOID:0060041 autism spectrum disorder IMP D RGD:126790534|PMID:29970986 20210429 RGD
126848737 WI- Msh6m1Hubr strain DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 IMP D RGD:2292505|PMID:18417481 20210428 RGD
126848737 WI- Msh6m1Hubr strain DOID:9000027 Microsatellite Instability IMP D RGD:2292505|PMID:18417481 20210428 RGD
126848738 Msh6m1Hubr mutS homolog 6; ENU induced mutant 1, Hubr gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 IMP D RGD:2292505|PMID:18417481 20210429 RGD
126848738 Msh6m1Hubr mutS homolog 6; ENU induced mutant 1, Hubr gene DOID:9000027 Microsatellite Instability IMP D RGD:2292505|PMID:18417481 20210429 RGD
126848793 SS-Gper1em1Bj-/- strain DOID:9007204 Dysbiosis ameliorates IMP D RGD:39939000|PMID:30354811 20220204 RGD
126848804 F344-Trpc4Tn(sb)1Bni strain DOID:9001820 Pulmonary Arterial Hypertension ameliorates IMP XCO:0000010|XCO:0000922 D RGD:150429956|PMID:24113457 20220125 RGD
126848808 Trpc4Tn(sb)Tngen transient receptor potential cation channel, subfamily C, member 4; sleeping beauty induced mutant, Tngen gene DOID:9001820 Pulmonary Arterial Hypertension ameliorates IMP XCO:0000010|XCO:0000922 D RGD:150429956|PMID:24113457 20220210 RGD
126908010 SD-Kcnk3em1Ang-/- strain DOID:6432 pulmonary hypertension severity IMP XCO:0000642 D RGD:151347452|PMID:31347976 20220127 RGD
126908013 SD-Kcnk3em1Ang-/+ strain DOID:6432 pulmonary hypertension severity IMP XCO:0000642 D RGD:151347452|PMID:31347976 20220127 RGD
126908015 Kcnk3em1Ang potassium two pore domain channel subfamily K member 3; CRISPR/Cas9 induced mutant1, Ang gene DOID:6432 pulmonary hypertension severity IMP XCO:0000642 D RGD:151347452|PMID:31347976 20220203 RGD
126925134 SD-Il36rntm1(Myh6-cre)Mhzh strain DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:126925167|PMID:32048631 20210513 RGD
126925135 SD-Il1rl2tm1(Myh6-cre)Mhzh strain DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:126925167|PMID:32048631 20210513 RGD compared to Wild Type in cardiopulmonary bypass model
126925138 SD-Ubdem1 strain DOID:5844 myocardial infarction IMP D RGD:126925221|PMID:29438664 20210518 RGD associated with induced myocardial infarction
126925159 Il1rl2tm1(Myh6-cre)Mhzh interleukin 1 receptor-like 2; tm1 (Myh6-cre), Mhzh gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:126925167|PMID:32048631 20210520 RGD compared to Wild Type in cardiopulmonary bypass model
126925161 Il36rntm1(Myh6-cre)Mhzh interleukin 36 receptor antagonist; tm1, Mhzh gene DOID:9007838 Myocardial Reperfusion Injury IMP D RGD:126925167|PMID:32048631 20210520 RGD
126925166 Ubdem1 ubiquitin D; CRISPR/Cas9 induced mutant1 gene DOID:5844 myocardial infarction IMP D RGD:126925221|PMID:29438664 20210520 RGD associated with induced myocardial infarction
126925756 SD-Cryba1Nuc1Dbsa strain DOID:10629 microphthalmia IMP D RGD:126925760|PMID:15721615 20210519 RGD
126925756 SD-Cryba1Nuc1Dbsa strain DOID:83 cataract IMP D RGD:126925760|PMID:15721615 20210519 RGD
126925756 SD-Cryba1Nuc1Dbsa strain DOID:83 cataract IMP D RGD:2303652|PMID:17931883 20210519 RGD
126925756 SD-Cryba1Nuc1Dbsa strain DOID:9005232 Reticular Dystrophy of Retinal Pigment Epithelium IMP D RGD:126925759|PMID:21266465 20210519 RGD
126925758 Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa gene DOID:10629 microphthalmia IMP D RGD:126925760|PMID:15721615 20210520 RGD
126925758 Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa gene DOID:83 cataract IMP D RGD:126925760|PMID:15721615 20210520 RGD
126925758 Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa gene DOID:83 cataract IMP D RGD:2303652|PMID:17931883 20210520 RGD
126925758 Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa gene DOID:9005232 Reticular Dystrophy of Retinal Pigment Epithelium IMP D RGD:126925759|PMID:21266465 20210520 RGD
126925949 SD-Myh7bem1Blar+/- strain DOID:11984 hypertrophic cardiomyopathy IMP D RGD:126925946|PMID:32207065 20210816 RGD
126925952 SD-Myh7bem1Blar-/- strain DOID:11984 hypertrophic cardiomyopathy IMP D RGD:126925946|PMID:32207065 20210816 RGD
126925953 Myh7bem1Blar myosin heavy chain 7B; CRISPR/Cas9 induced mutant 1, Blar gene DOID:11984 hypertrophic cardiomyopathy IMP D RGD:126925946|PMID:32207065 20210819 RGD
126925978 SD-Ercc6em1Cgen strain DOID:0080908 Cockayne syndrome B IMP D RGD:126925983|PMID:31644904 20210525 RGD
126925980 Ercc6em1Cgen ERCC excision repair 6, chromatin remodeling factor; CRISPR/Cas9 induced mutant 1, Cgen gene DOID:0080908 Cockayne syndrome B IMP D RGD:126925983|PMID:31644904 20210527 RGD
126925992 SD-Cftrem1Ang strain DOID:1485 cystic fibrosis IMP D RGD:126928119|PMID:31942562 20210526 RGD
126925992 SD-Cftrem1Ang strain DOID:693 dental enamel hypoplasia IMP D RGD:126928119|PMID:31942562 20210526 RGD
126925993 Cftrem1Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang gene DOID:1485 cystic fibrosis IMP D RGD:126928119|PMID:31942562 20210527 RGD
126925993 Cftrem1Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang gene DOID:693 dental enamel hypoplasia IMP D RGD:126928119|PMID:31942562 20210527 RGD
126925994 SD-Cftrem2Ang strain DOID:1485 cystic fibrosis IMP D RGD:126928119|PMID:31942562 20210526 RGD
126925994 SD-Cftrem2Ang strain DOID:693 dental enamel hypoplasia IMP D RGD:126928119|PMID:31942562 20210526 RGD
126925995 Cftrem2Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang gene DOID:1485 cystic fibrosis IMP D RGD:126928119|PMID:31942562 20210527 RGD
126925995 Cftrem2Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang gene DOID:693 dental enamel hypoplasia IMP D RGD:126928119|PMID:31942562 20210527 RGD
126928146 ACI.Cg.-Cdkn1bem1Musc strain DOID:5223 infertility IMP D RGD:126908018|PMID:30893315 20210607 RGD
126928146 ACI.Cg.-Cdkn1bem1Musc strain DOID:83 cataract IMP D RGD:126908018|PMID:30893315 20210607 RGD
126928147 Cdkn1bem1Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc gene DOID:5223 infertility IMP D RGD:126908018|PMID:30893315 20210610 RGD
126928147 Cdkn1bem1Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc gene DOID:83 cataract IMP D RGD:126908018|PMID:30893315 20210610 RGD
126928150 ACI.Cg.-Cdkn1bem4Musc strain DOID:5223 infertility IMP D RGD:126908018|PMID:30893315 20210607 RGD
126928150 ACI.Cg.-Cdkn1bem4Musc strain DOID:83 cataract IMP D RGD:126908018|PMID:30893315 20210607 RGD
126928151 Cdkn1bem4Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc gene DOID:5223 infertility IMP D RGD:126908018|PMID:30893315 20210610 RGD
126928151 Cdkn1bem4Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc gene DOID:83 cataract IMP D RGD:126908018|PMID:30893315 20210610 RGD
127228636 CVCL_A6JK NU-RMESO-9 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60453
127228637 CVCL_A6JJ NU-RMESO-2 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60453
127228638 CVCL_A6JM NU-RMESO-20 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60453
127228639 CVCL_A6JL NU-RMESO-14 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60453
127228640 CVCL_A6JN NU-RMESO-26 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60453
127228641 CVCL_A6JQ NU-RMESO-79 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60453
127228642 CVCL_A6JP NU-RMESO-40 cell line DOID:1790 malignant mesothelioma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60453
127228718 CVCL_A6IM FRA cell line DOID:9004547 Thyroid Neoplasms IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C179056
127228813 CVCL_A6UV RMM-A1 cell line DOID:1909 melanoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60451
127228814 CVCL_A6UU RMM-C cell line DOID:1909 melanoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60451
127228816 CVCL_A6UW RMM-CAF cell line DOID:1909 melanoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60451
127229263 CVCL_A7QC RIN-AhGh cell line DOID:3892 insulinoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C121566
127229265 CVCL_A7QE RIN 1046-44 cell line DOID:3892 insulinoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C121566
127229266 CVCL_A7QD RIN-AhLh cell line DOID:3892 insulinoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C121566
127229267 CVCL_A7QG RIN-5AH-T2 cell line DOID:3892 insulinoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C121566
127229268 CVCL_A7QF RIN 1046-43 cell line DOID:3892 insulinoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C121566
127229869 CVCL_A7AK TSD-B4S cell line DOID:5563 malignant teratoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60468
127229871 CVCL_A7AM TSD-P cell line DOID:5563 malignant teratoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60468
127229872 CVCL_A7AL TSD-F9R cell line DOID:5563 malignant teratoma IEA D RGD:21410187 20210602 CELLOSAURUS NCI:C60468
127284883 SD-Aqp4em1Hrt strain DOID:9000438 Subarachnoid Hemorrhage exacerbates IMP D RGD:127284879|PMID:33574749 20220117 RGD
127284884 Aqp4em1Hrt aquaporin 4; TALEN induced mutant 1, Hrt gene DOID:9000438 Subarachnoid Hemorrhage exacerbates IMP D RGD:127284879|PMID:33574749 20220120 RGD
127285380 SD-Mir31em1Sage strain DOID:3748 esophagus squamous cell carcinoma ameliorates IMP D RGD:127285381|PMID:32123074 20220117 RGD
127285810 SD-Trpa1em1Gne strain DOID:2841 asthma severity IMP D RGD:127285811|PMID:31969645 20210702 RGD ovalbumin sensitization
127285812 Trpa1em1Gne transient receptor potential cation channel, subfamily A, member 1;CRISPR/Cas9 induced mutant 1, Gne gene DOID:2841 asthma severity IMP D RGD:127285811|PMID:31969645 20210708 RGD ovalbumin sensitization
127338473 WM/Nem strain DOID:9007337 Teratogenesis susceptibility IAGP D RGD:149735899|PMID:3347907 20211223 RGD
127338474 BDIX/Nem strain DOID:9007337 Teratogenesis susceptibility IAGP D RGD:149735899|PMID:3347907 20211223 RGD
127345097 SD-Muc1em1Cgen strain DOID:4481 allergic rhinitis severity IMP D RGD:127345100|PMID:31425778 20210709 RGD
127345099 Muc1em1Cgen mucin 1, cell surface associated; TALEN induced mutant 1, Cgen gene DOID:4481 allergic rhinitis severity IMP D RGD:127345100|PMID:31425778 20210715 RGD
12738218 SD-GEPR-9 strain DOID:9009159 Audiogenic Epilepsy induced IAGP D RGD:13450925|PMID:21458955 20210108 RGD
12738218 SD-GEPR-9 strain DOID:9009159 Audiogenic Epilepsy induced IAGP D RGD:724734|PMID:3596061 20210111 RGD
12738372 BDIX.BDIV-D6Mit1-D6Mgh2/Zte strain DOID:5940 malignant peripheral nerve sheath tumor sexual_dimorphism IAGP D RGD:11556249|PMID:21427360 20211222 RGD
12790721 SS.BN-(D13Rat151-D13Rat197)-Serpinc1em2Mcwi strain DOID:9006223 Kidney Reperfusion Injury IMP D RGD:11354006|PMID:26108065 20170310 RGD
12790722 Serpinc1em2Mcwi serpin family C member 1; ZFN induced mutant 2, Medical College of Wisconsin gene DOID:9006223 Kidney Reperfusion Injury IMP D RGD:11354006|PMID:26108065 20170515 RGD
12791992 Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub gene DOID:0110231 cataract 1 multiple types IAGP D RGD:2293186|PMID:18470322 20170412 RGD
12791992 Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub gene DOID:10629 microphthalmia IAGP D RGD:2293186|PMID:18470322 20170412 RGD
12792252 Apcm1Kyo APC, WNT signaling pathway regulator; mutant 1, Kyo gene DOID:219 colon cancer IAGP D RGD:12792250|PMID:19694754 20170411 RGD
12792283 Scn1am1Kyo sodium voltage-gated channel alpha subunit 1; ENU induced mutant1, Kyo gene DOID:9007956 Febrile Seizures IMP D RGD:12792282|PMID:20410126 20170411 RGD
12792284 Scn1am2Kyo sodium voltage-gated channel alpha subunit 1; ENU induced mutant2, Kyo gene DOID:9007956 Febrile Seizures IMP D RGD:12792282|PMID:20410126 20170411 RGD
12792962 Sv2am1Kyo synaptic vesicle glycoprotein 2a; ENU induced mutant 1, Kyo, gene DOID:9007090 Experimental Seizures IMP D RGD:12792961|PMID:27265781 20170410 RGD
12792963 Lepm1Kyo leptin; ENU induced mutant1, Kyo gene DOID:9007692 Insulin Resistance IMP D RGD:8549777|PMID:23800849 20170410 RGD
12792963 Lepm1Kyo leptin; ENU induced mutant1, Kyo gene DOID:9970 obesity IMP D RGD:8549777|PMID:23800849 20170410 RGD
12792967 ArsbMPR arylsulfatase B; MPR mutant gene DOID:12800 mucopolysaccharidosis VI IAGP D RGD:631738|PMID:8575749 20170410 RGD
12792970 Lgi1m1Kyo leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo gene DOID:1826 epilepsy IMP D RGD:12792971|PMID:22589250 20170410 RGD DNA:missense mutation:cds:p.L385R (c.1154T>G)
12792970 Lgi1m1Kyo leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo gene DOID:7725 epilepsy with generalized tonic-clonic seizures IMP D RGD:14995940|PMID:30813600 20200130 RGD
12792972 Tyrem1Kyo tyrosinase; TALEN induced mutant1, Kyo gene DOID:9001386 Albinism IMP D RGD:12792973|PMID:23409244 20170410 RGD
12793071 Mrs2dmyKyo MRS2 magnesium transporter; demyelination mutant, Kyo gene DOID:3213 demyelinating disease IAGP D RGD:12793070|PMID:21253565 20180525 RGD DNA:missense mutation:intron(rat)
12798532 SS.BN-(D13Hmgc40-D13Got22)/Mcwi strain DOID:576 proteinuria induced IAGP XCO:0000022 D RGD:12798539|PMID:21257920 20170324 RGD
12798533 SS.BN-(D13Hmgc85-D13Got22)/Mcwi strain DOID:576 proteinuria induced IAGP XCO:0000022 D RGD:12798539|PMID:21257920 20170324 RGD
12798534 SS.BN-(D13Rat77-D13Got22)/Mcwi strain DOID:576 proteinuria induced IAGP XCO:0000022 D RGD:12798539|PMID:21257920 20170324 RGD
12798535 SS.BN-(D13Rat111-D13Rat115)/Mcwi strain DOID:576 proteinuria induced IAGP XCO:0000022 D RGD:12798539|PMID:21257920 20170324 RGD
12798536 SS.BN-(D13Rat111-D13Hmgc86)/Mcwi strain DOID:576 proteinuria induced IAGP XCO:0000022 D RGD:12798539|PMID:21257920 20170324 RGD
12798537 SS.BN-(D13Rat111-D13Rat20)/Mcwi strain DOID:576 proteinuria induced IAGP XCO:0000022 D RGD:12798539|PMID:21257920 20170324 RGD
12798560 Il2rgem1Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo gene DOID:0060013 X-linked severe combined immunodeficiency IMP D RGD:2316325|PMID:20111598 20201210 RGD
12798560 Il2rgem1Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo gene DOID:628 combined T cell and B cell immunodeficiency IMP D RGD:2316325|PMID:20111598 20170608 RGD
12798561 Il2rgem2Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo gene DOID:0060013 X-linked severe combined immunodeficiency IMP D RGD:2316325|PMID:20111598 20201210 RGD
12798561 Il2rgem2Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo gene DOID:628 combined T cell and B cell immunodeficiency IMP D RGD:2316325|PMID:20111598 20170608 RGD
12802344 Kcnq1dfk potassium voltage-gated channel subfamily Q member 1;deafness Kyoto gene DOID:10763 hypertension IAGP D RGD:1581602|PMID:16368876 20170411 RGD
12802344 Kcnq1dfk potassium voltage-gated channel subfamily Q member 1;deafness Kyoto gene DOID:2843 long QT syndrome IAGP D RGD:1581602|PMID:16368876 20200124 RGD
12802344 Kcnq1dfk potassium voltage-gated channel subfamily Q member 1;deafness Kyoto gene DOID:9001295 Achlorhydria IAGP D RGD:1581602|PMID:16368876 20170411 RGD
12802344 Kcnq1dfk potassium voltage-gated channel subfamily Q member 1;deafness Kyoto gene DOID:9008681 Deafness IAGP D RGD:1581602|PMID:16368876 20170411 RGD
12802346 Plp1md proteolipid protein 1; Myelin-deficient gene DOID:1826 epilepsy IAGP D RGD:1358781|PMID:2479544 20170412 RGD
12802351 Mbpmd myelin basic protein; myelin deficient gene DOID:3213 demyelinating disease IAGP D RGD:1358763|PMID:10212300 20170412 RGD
12859278 Slc:ZUC-Leprfa-/- Zucker fatty rats strain DOID:0080547 metabolic dysfunction-associated steatohepatitis induced IAGP XCO:0000025, XCO:0000246,XCO:0000164 D RGD:21076282|PMID:20606728 20200313 RGD compared to standard diet rats
12859278 Slc:ZUC-Leprfa-/- Zucker fatty rats strain DOID:2018 hyperinsulinism MODEL: spontaneous IAGP D RGD:2300017|PMID:14756693 20200113 RGD compared to SHRSP/Izm
12859278 Slc:ZUC-Leprfa-/- Zucker fatty rats strain DOID:9000808 Hypercholesterolemia MODEL: spontaneous IAGP D RGD:2300017|PMID:14756693 20200113 RGD compared to SHRSP/Izm
12859278 Slc:ZUC-Leprfa-/- Zucker fatty rats strain DOID:9000808 Hypercholesterolemia induced IAGP XCO:0000025, XCO:0000246,XCO:0000164 D RGD:21076282|PMID:20606728 20200313 RGD compared to standard diet rats
12859278 Slc:ZUC-Leprfa-/- Zucker fatty rats strain DOID:9007692 Insulin Resistance IAGP D RGD:12859275|PMID:25961052 20170414 RGD compared to wt homozygotes
12859278 Slc:ZUC-Leprfa-/- Zucker fatty rats strain DOID:9970 obesity MODEL: spontaneous IAGP D RGD:12859276|PMID:23671847 20170414 RGD compared to fa/+ heterozygotes
12859278 Slc:ZUC-Leprfa-/- Zucker fatty rats strain DOID:9970 obesity MODEL: spontaneous IAGP D RGD:2300017|PMID:14756693 20200113 RGD compared to SHRSP/Izm
12859279 Ho:ZFDM-Leprfa Zucker Fatty Diabetes Mellitus rats strain DOID:9007692 Insulin Resistance IAGP D RGD:12859275|PMID:25961052 20170414 RGD compared to fa/+ heterozygotes
12859279 Ho:ZFDM-Leprfa Zucker Fatty Diabetes Mellitus rats strain DOID:9970 obesity IAGP D RGD:12859276|PMID:23671847 20200320 RGD compared to fa/+ heterozygotes
12859287 ZDF-Leprfa/Drt Zucker Diabetic Fatty Rat strain DOID:9352 type 2 diabetes mellitus MODEL: spontaneous IAGP D RGD:1354693|PMID:15319354 20200306 RGD
12879394 F344-Atmm1Kyo Atm missense rats strain DOID:0060058 lymphoma IMP D RGD:12879393|PMID:27895165 20170418 RGD
12879394 F344-Atmm1Kyo Atm missense rats strain DOID:14566 disease of cellular proliferation IMP D RGD:12879393|PMID:27895165 20170418 RGD
12879394 F344-Atmm1Kyo Atm missense rats strain DOID:5223 infertility IMP D RGD:12879393|PMID:27895165 20170418 RGD
12879395 Atmm1Kyo ATM serine/threonine kinase; ENU induced mutant 1, Kyo gene DOID:0060058 lymphoma IMP D RGD:12879393|PMID:27895165 20230119 RGD
12879395 Atmm1Kyo ATM serine/threonine kinase; ENU induced mutant 1, Kyo gene DOID:14566 disease of cellular proliferation IMP D RGD:12879393|PMID:27895165 20230119 RGD
12879395 Atmm1Kyo ATM serine/threonine kinase; ENU induced mutant 1, Kyo gene DOID:5223 infertility IMP D RGD:12879393|PMID:27895165 20170418 RGD
12879400 F344-Atmem1Kyo ZFN-Atm rats strain DOID:0060058 lymphoma IMP D RGD:12879399|PMID:28007901 20170418 RGD
12879400 F344-Atmem1Kyo ZFN-Atm rats strain DOID:1240 leukemia IMP D RGD:12879399|PMID:28007901 20170418 RGD
12879400 F344-Atmem1Kyo ZFN-Atm rats strain DOID:12704 ataxia telangiectasia IMP D RGD:12879399|PMID:28007901 20170418 RGD
12879400 F344-Atmem1Kyo ZFN-Atm rats strain DOID:14566 disease of cellular proliferation IMP D RGD:12879399|PMID:28007901 20170418 RGD
12879400 F344-Atmem1Kyo ZFN-Atm rats strain DOID:5223 infertility IMP D RGD:12879399|PMID:28007901 20170418 RGD
12879401 Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo gene DOID:0060058 lymphoma IMP D RGD:12879399|PMID:28007901 20170418 RGD
12879401 Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo gene DOID:1240 leukemia IMP D RGD:12879399|PMID:28007901 20230117 RGD
12879401 Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo gene DOID:12704 ataxia telangiectasia IMP D RGD:12879399|PMID:28007901 20170418 RGD
12879401 Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo gene DOID:14566 disease of cellular proliferation IMP D RGD:12879399|PMID:28007901 20230119 RGD
12879401 Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo gene DOID:5223 infertility IMP D RGD:12879399|PMID:28007901 20170418 RGD
12879506 Pur33 Proteinuria QTL 33 qtl DOID:576 proteinuria IAGP D RGD:11353859|PMID:27113531 20170424 RGD
12879830 Bw178 Body weight QTL 178 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD
12879831 Cm82 Cardiac mass QTL 82 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD
12879832 Cm83 Cardiac mass QTL 83 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD
12879833 Cm84 Cardiac mass QTL 84 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD
12879834 Am1 Aortic mass QTL 1 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD
12879835 Kidm60 Kidney mass QTL 60 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD
12879836 Kidm61 Kidney mass QTL 61 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD
12879837 Am2 Aortic mass QTL 2 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD
12879838 Cm86 Cardiac mass QTL 86 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD
12879839 Cm85 Cardiac mass QTL 85 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD
12879840 Bw179 Body weight QTL 179 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD
12879841 Cm87 Cardiac mass QTL 87 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD
12879842 Cm88 Cardiac mass QTL 88 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD
12879843 Am3 Aortic mass QTL 3 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD
12879844 Kidm62 Kidney mass QTL 62 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170426 RGD
12879849 Bw180 Body weight QTL 180 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879850 Cm91 Cardiac mass QTL 91 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879851 Cm92 Cardiac mass QTL 92 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879852 Cm93 Cardiac mass QTL 93 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879853 Am5 Aortic mass QTL 5 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879854 Kidm63 Kidney mass QTL 63 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879860 Tgrdw thyroglobulin; rdw mutant gene DOID:0060870 isolated growth hormone deficiency IAGP D RGD:12880373|PMID:3366187 20170503 RGD
12879860 Tgrdw thyroglobulin; rdw mutant gene DOID:0060870 isolated growth hormone deficiency IAGP D RGD:730133|PMID:11089535 20170503 RGD
12879860 Tgrdw thyroglobulin; rdw mutant gene DOID:1459 hypothyroidism IAGP D RGD:730133|PMID:11089535 20210930 RGD compared to wild type and heterozygotes
12879860 Tgrdw thyroglobulin; rdw mutant gene DOID:1459 hypothyroidism treatment IAGP D RGD:150429798|PMID:16365524 20210930 RGD
12879860 Tgrdw thyroglobulin; rdw mutant gene DOID:9007661 Dwarfism IAGP D RGD:13605608|PMID:10760744 20201210 RGD
12879860 Tgrdw thyroglobulin; rdw mutant gene DOID:9007661 Dwarfism treatment IAGP D RGD:150429798|PMID:16365524 20210930 RGD
12879863 Bp402 Blood pressure QTL 402 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879871 Am7 Aortic mass QTL 7 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879872 Cm97 Cardiac mass QTL 97 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879873 Cm96 Cardiac mass QTL 96 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879874 Cm98 Cardiac mass QTL 98 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879875 Kidm64 Kidney mass QTL 64 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879878 Bw183 Body weight QTL 183 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879879 Cm99 Cardiac mass QTL 99 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879880 Cm100 Cardiac mass QTL 100 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879881 Cm101 Cardiac mass QTL 101 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12879882 Am8 Aortic mass QTL 8 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD
12879883 Kidm65 Kidney mass QTL 65 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170428 RGD
12880021 SD-Apoeem1Sage strain DOID:13810 familial hypercholesterolemia IMP D RGD:150520219|PMID:29166645 20211108 RGD
12880022 Apoeem1Sage apolipoprotein E; endonuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs gene DOID:13810 familial hypercholesterolemia IMP D RGD:150520219|PMID:29166645 20211111 RGD
12880023 Bw184 Body weight QTL 184 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20080418 RGD
12880025 Cm102 Cardiac mass QTL 102 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20080418 RGD
12880028 Cm103 Cardiac mass QTL 103 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170502 RGD
12880032 Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang gene DOID:11723 Duchenne muscular dystrophy IMP D RGD:12880034|PMID:25310701 20170502 RGD
12880032 Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang gene DOID:12930 dilated cardiomyopathy IMP D RGD:12880034|PMID:25310701 20170502 RGD
12880032 Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang gene DOID:9003139 Cardiac Fibrosis IMP D RGD:12880034|PMID:25310701 20170502 RGD
12880037 SD-Dmdem1Ang strain DOID:11723 Duchenne muscular dystrophy MODEL: spontaneous IMP D RGD:12880034|PMID:25310701 20170502 RGD
12880037 SD-Dmdem1Ang strain DOID:12930 dilated cardiomyopathy IMP D RGD:12880034|PMID:25310701 20170502 RGD
12880037 SD-Dmdem1Ang strain DOID:9003139 Cardiac Fibrosis IMP D RGD:12880034|PMID:25310701 20170502 RGD
12880044 Am9 Aortic mass QTL 9 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD
12880050 Am10 Aortic mass QTL 10 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD
12880053 Cm104 Cardiac mass QTL 104 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD
12880368 Bw187 Body weight QTL 187 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD
12880370 Cm105 Cardiac mass QTL 105 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170503 RGD
12880371 Cm106 Cardiac mass QTL 106 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170503 RGD
12880372 Am12 Aortic mass QTL 12 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170503 RGD
12880375 Kidm66 Kidney mass QTL 66 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170503 RGD
12880380 Gh1sdr gene DOID:9007661 Dwarfism IAGP D RGD:1578506|PMID:2152867 20170504 RGD
12880382 Cacna1agry calcium voltage-gated channel subunit alpha1 A; groggy mutant gene DOID:1825 childhood absence epilepsy IAGP D RGD:1598976|PMID:17196942 20170504 RGD
12880383 Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures gene DOID:0050989 episodic ataxia type 1 IAGP D RGD:10047237|PMID:22206926 20170504 RGD
12880383 Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures gene DOID:7725 epilepsy with generalized tonic-clonic seizures IAGP D RGD:10047237|PMID:22206926 20170504 RGD
12880383 Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures gene DOID:9003935 Myokymia IAGP D RGD:10047237|PMID:22206926 20170504 RGD
12880384 Cm107 Cardiac mass QTL 107 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170505 RGD
12880385 Cm108 Cardiac mass QTL 108 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170505 RGD
12880395 Cm109 Cardiac mass QTL 109 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170505 RGD
12880396 Am13 Aortic mass QTL 13 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170505 RGD
12880398 Kidm67 Kidney mass QTL 67 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170505 RGD
12902615 Bw185 Body weight QTL 185 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170615 RGD
12902622 Bdnfem1Sage brain-derived neurotrophic factor; ZFN induced mutant 1, Sage gene DOID:9005632 Cocaine-Related Disorders severity IMP D RGD:38501054|PMID:23583595 20200820 RGD
12903245 Cm110 Cardiac mass QTL 110 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170510 RGD
12903246 Cm111 Cardiac mass QTL 111 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170510 RGD
12903247 Cm112 Cardiac mass QTL 112 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170510 RGD
12903248 Am14 Aortic mass QTL 14 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170510 RGD
12903249 Kidm68 Kidney mass QTL 68 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170510 RGD
12903278 Am16 Aortic mass QTL 16 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170511 RGD
12903279 Cm115 Cardiac mass QTL 115 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170511 RGD
12903281 Cm116 Cardiac mass QTL 116 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170511 RGD
12903952 Cm117 Cardiac mass QTL 117 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170511 RGD
12903954 Bw186 Body weight QTL 186 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170511 RGD
12903955 Kidm69 Kidney mass QTL 69 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170511 RGD
12903978 Cm118 Cardiac mass QTL 118 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170512 RGD
12903979 Cm119 Cardiac mass QTL 119 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170512 RGD
12903980 Cm120 Cardiac mass QTL 120 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170512 RGD
12903981 Am17 Aortic mass QTL 17 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170512 RGD
12903982 Kidm70 Kidney mass QTL 70 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170512 RGD
12904067 Cm122 Cardiac mass QTL 122 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170516 RGD
12904069 Cm123 Cardiac mass QTL 123 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170516 RGD
12904070 Cm124 Cardiac mass QTL 124 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170516 RGD
12904071 Am18 Aortic mass QTL 18 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170516 RGD
12904073 Kidm71 Kidney mass QTL 71 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170516 RGD
12904668 Bw188 Body weight QTL 188 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD
12904669 Cm125 Cardiac mass QTL 125 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD
12904670 Cm126 Cardiac mass QTL 126 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD
12904673 Cm127 Cardiac mass QTL 127 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD
12904675 Am19 Aortic mass QTL 19 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD
12904677 Kidm72 Kidney mass QTL 72 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD
12904679 WKY-Cyp2j4em1Sage/Tja strain DOID:10952 nephritis IMP D RGD:12904676|PMID:25840911 20170517 RGD
12904679 WKY-Cyp2j4em1Sage/Tja strain DOID:5199 ureteral obstruction IMP D RGD:12904676|PMID:25840911 20170517 RGD
12904680 Bw189 Body weight QTL 189 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD
12904681 Cyp2j4em1Sage cytochrome P450, family 2, subfamily j, polypeptide 4, ZFN induced mutant 1, Sage gene DOID:10952 nephritis IMP D RGD:12904676|PMID:25840911 20170517 RGD
12904681 Cyp2j4em1Sage cytochrome P450, family 2, subfamily j, polypeptide 4, ZFN induced mutant 1, Sage gene DOID:5199 ureteral obstruction IMP D RGD:12904676|PMID:25840911 20170517 RGD
12904689 Cm128 Cardiac mass QTL 128 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20081029 RGD
12904690 Cm129 Cardiac mass QTL 129 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD
12904691 Cm130 Cardiac mass QTL 130 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD
12904693 Am20 Aortic mass QTL 20 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD
12904695 Kidm73 Kidney mass QTL 73 qtl DOID:10763 hypertension IAGP D RGD:1599557|PMID:17143582 20170517 RGD
12904897 SD-Tp53em1Sage strain DOID:9000227 Hypogonadism and Testicular Atrophy IMP D RGD:14995504|PMID:28834365 20210928 RGD compared to SD
12904898 Tp53em1Sage tumor protein p53; ZFN induced mutant 1, Sage gene DOID:9000227 Hypogonadism and Testicular Atrophy IMP D RGD:14995504|PMID:28834365 20210930 RGD compared to SD
12904907 SD-Prkdcem1Sage strain DOID:9003676 Brain Hypoxia-Ischemia treatment IMP D RGD:39938998|PMID:30485360 20211111 RGD
12904908 SD-Ldlrem1Sage strain DOID:9000808 Hypercholesterolemia IMP D RGD:12910100|PMID:28469073 20170608 RGD
12904908 SD-Ldlrem1Sage strain DOID:9006599 Hypertriglyceridemia IMP D RGD:12910100|PMID:28469073 20170608 RGD
12904909 Ldlrem1Sage low density lipoprotein receptor; ZFN induced mutant 1, Sage gene DOID:9000808 Hypercholesterolemia IMP D RGD:12910100|PMID:28469073 20170608 RGD
12904909 Ldlrem1Sage low density lipoprotein receptor; ZFN induced mutant 1, Sage gene DOID:9006599 Hypertriglyceridemia IMP D RGD:12910100|PMID:28469073 20170608 RGD
12904912 SD-Lepem1Sage-/- strain DOID:10603 glucose intolerance IMP D RGD:12904911|PMID:22948215 20170526 RGD
12904912 SD-Lepem1Sage-/- strain DOID:2018 hyperinsulinism IMP D RGD:12904911|PMID:22948215 20170526 RGD
12904912 SD-Lepem1Sage-/- strain DOID:9000808 Hypercholesterolemia IMP D RGD:12904911|PMID:22948215 20170526 RGD
12904912 SD-Lepem1Sage-/- strain DOID:9006599 Hypertriglyceridemia IMP D RGD:12904911|PMID:22948215 20170526 RGD
12904912 SD-Lepem1Sage-/- strain DOID:9970 obesity IMP D RGD:12904911|PMID:22948215 20170526 RGD
12904927 Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage gene DOID:10603 glucose intolerance IMP D RGD:12904911|PMID:22948215 20170526 RGD
12904927 Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage gene DOID:2018 hyperinsulinism IMP D RGD:12904911|PMID:22948215 20170526 RGD
12904927 Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage gene DOID:9000808 Hypercholesterolemia IMP D RGD:12904911|PMID:22948215 20170526 RGD
12904927 Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage gene DOID:9006599 Hypertriglyceridemia IMP D RGD:12904911|PMID:22948215 20170526 RGD
12904927 Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage gene DOID:9970 obesity IMP D RGD:12904911|PMID:22948215 20170526 RGD
12910101 SD-Ldlrem1 strain DOID:9000808 Hypercholesterolemia IMP D RGD:12910104|PMID:27378433 20170608 RGD
12910101 SD-Ldlrem1 strain DOID:9003370 Dyslipidemias IMP D RGD:12910104|PMID:27378433 20170608 RGD
12910101 SD-Ldlrem1 strain DOID:9006599 Hypertriglyceridemia IMP D RGD:12910104|PMID:27378433 20170608 RGD
12910102 Ldlrem1 low density lipoprotein receptor; ZFN induced mutant 1 gene DOID:9000808 Hypercholesterolemia IMP D RGD:12910104|PMID:27378433 20170608 RGD
12910102 Ldlrem1 low density lipoprotein receptor; ZFN induced mutant 1 gene DOID:9003370 Dyslipidemias IMP D RGD:12910104|PMID:27378433 20170608 RGD
12910102 Ldlrem1 low density lipoprotein receptor; ZFN induced mutant 1 gene DOID:9006599 Hypertriglyceridemia IMP D RGD:12910104|PMID:27378433 20170608 RGD
12910493 LEW.1WR1-Ifnar1em1 strain DOID:9004531 Cardiovirus Infections IMP D RGD:12910492|PMID:27999109 20170616 RGD
12910493 LEW.1WR1-Ifnar1em1 strain DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:12910492|PMID:27999109 20170616 RGD
12910494 LEW.1WR1-Ifnar1em2 strain DOID:9004531 Cardiovirus Infections IMP D RGD:12910492|PMID:27999109 20170616 RGD
12910494 LEW.1WR1-Ifnar1em2 strain DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:12910492|PMID:27999109 20170616 RGD
12910495 Ifnar1em1 interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 1 gene DOID:9004531 Cardiovirus Infections IMP D RGD:12910492|PMID:27999109 20170616 RGD
12910495 Ifnar1em1 interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 1 gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:12910492|PMID:27999109 20170616 RGD
12910496 Ifnar1em2 interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 2 gene DOID:9004531 Cardiovirus Infections IMP D RGD:12910492|PMID:27999109 20170616 RGD
12910496 Ifnar1em2 interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 2 gene DOID:9005643 Experimental Diabetes Mellitus IMP D RGD:12910492|PMID:27999109 20170616 RGD
12910517 SD-Leprem2 strain DOID:9970 obesity IMP D RGD:12910507|PMID:27225180 20170619 RGD
12910518 Leprem2 leptin receptor; TALEN induced mutant 2 gene DOID:9970 obesity IMP D RGD:12910507|PMID:27225180 20170619 RGD
12910519 SD-Leprem3 strain DOID:9970 obesity IMP D RGD:12910507|PMID:27225180 20170619 RGD
12910546 Leprem3 leptin receptor; TALEN induced mutant 3 gene DOID:9970 obesity IMP D RGD:12910507|PMID:27225180 20170619 RGD
12910736 Esr1em1Soar estrogen receptor 1; ZFN induced mutant 1, Soar gene DOID:5223 infertility IMP D RGD:8552987|PMID:24506075 20170623 RGD
12910762 BN-KitWs strain DOID:12449 aplastic anemia severity IMP D RGD:12910751|PMID:7694680 20170623 RGD
12910763 KitWs KIT proto-oncogene receptor tyrosine kinase; mutant 1 gene DOID:12449 aplastic anemia severity IMP D RGD:12910751|PMID:7694680 20170623 RGD
12910834 Zbtb16Lx zinc finger and BTB domain containing 16, Lx mutant gene DOID:1148 polydactyly IAGP D RGD:2312786|PMID:19191224 20170626 RGD
12910940 SD-Cdkn1bwe strain DOID:0050771 pheochromocytoma IAGP D RGD:619590|PMID:12036912 20180503 RGD
12910940 SD-Cdkn1bwe strain DOID:0050773 paraganglioma IAGP D RGD:619590|PMID:12036912 20180503 RGD
12910940 SD-Cdkn1bwe strain DOID:3125 multiple endocrine neoplasia IAGP D RGD:619590|PMID:12036912 20170628 RGD
12910940 SD-Cdkn1bwe strain DOID:3829 pituitary adenoma IAGP D RGD:619590|PMID:12036912 20180503 RGD
12910940 SD-Cdkn1bwe strain DOID:83 cataract IAGP D RGD:619590|PMID:12036912 20170628 RGD
12910941 Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation gene DOID:0050771 pheochromocytoma IAGP D RGD:619590|PMID:12036912 20201210 RGD
12910941 Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation gene DOID:0050773 paraganglioma IAGP D RGD:619590|PMID:12036912 20201210 RGD
12910941 Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation gene DOID:3125 multiple endocrine neoplasia IAGP D RGD:2293616|PMID:17030811 20170628 RGD
12910941 Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation gene DOID:3125 multiple endocrine neoplasia IAGP D RGD:619590|PMID:12036912 20201210 RGD
12910941 Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation gene DOID:3829 pituitary adenoma IAGP D RGD:619590|PMID:12036912 20201210 RGD
12910941 Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation gene DOID:83 cataract IAGP D RGD:2293616|PMID:17030811 20170628 RGD
12910941 Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation gene DOID:83 cataract IAGP D RGD:619590|PMID:12036912 20201210 RGD
12910954 Csf1tl colony stimulating factor 1; tooth less mutant gene DOID:13533 osteopetrosis IAGP D RGD:628338|PMID:12379742 20170629 RGD
12910954 Csf1tl colony stimulating factor 1; tooth less mutant gene DOID:9007083 Edentulous Mouth IAGP D RGD:628338|PMID:12379742 20180430 RGD
1298065 Scl16 Serum cholesterol level QTL 16 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:737694|PMID:14739155 19990101 RGD
1298066 Bp159 Blood pressure QTL 159 qtl DOID:10763 hypertension IDA D RGD:61040|PMID:9685318 19990101 RGD
1298066 Bp159 Blood pressure QTL 159 qtl DOID:10763 hypertension IDA D RGD:61047|PMID:9271663 19990101 RGD
1298067 Scl15 Serum cholesterol level QTL 15 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:737694|PMID:14739155 19990101 RGD
1298068 Bp167 Blood pressure QTL 167 qtl DOID:10763 hypertension IDA D RGD:61042|PMID:7963489 19990101 RGD
1298069 Bp168 Blood pressure QTL 168 qtl DOID:10763 hypertension IDA D RGD:61040|PMID:9685318 19990101 RGD
1298070 Scl18 Serum cholesterol level QTL 18 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:737694|PMID:14739155 19990101 RGD
1298071 Edpm12 Estrogen-dependent pituitary mass QTL 12 qtl DOID:9002234 Pituitary Neoplasms IAGP D RGD:629550|PMID:11003699 19990101 RGD
1298072 Cia26 Collagen induced arthritis QTL 26 qtl DOID:9002457 Experimental Arthritis IDA D RGD:1285224|PMID:15334486 19990101 RGD
1298073 Cm13 Cardiac mass QTL 13 qtl DOID:10763 hypertension IDA D RGD:69705|PMID:9922389 19990101 RGD
1298074 Bp164 Blood pressure QTL 164 qtl DOID:10763 hypertension IAGP D RGD:728179|PMID:11980293 19990101 RGD
1298075 Scl17 Serum cholesterol level QTL 17 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:737694|PMID:14739155 19990101 RGD
1298076 Bp166 Blood pressure QTL 166 qtl DOID:10763 hypertension IAGP D RGD:728179|PMID:11980293 19990101 RGD
1298077 Bp157 Blood pressure QTL 157 qtl DOID:9006024 Hypotension IDA D RGD:619649|PMID:11875185 19990101 RGD
1298079 Activ2 Activity QTL 2 qtl DOID:9002362 Hyperkinesis QTM D RGD:631228|PMID:12660808 19990101 RGD
1298080 Bp163 Blood pressure QTL 163 qtl DOID:10763 hypertension IDA D RGD:68910|PMID:10642295 19990101 RGD
1298080 Bp163 Blood pressure QTL 163 qtl DOID:10763 hypertension IDA D RGD:69705|PMID:9922389 19990101 RGD
1298081 Cia25 Collagen induced arthritis QTL 25 qtl DOID:9002457 Experimental Arthritis IDA D RGD:1285224|PMID:15334486 19990101 RGD
1298083 Bp158 Blood pressure QTL 158 qtl DOID:10763 hypertension IDA D RGD:61038|PMID:8040284 19990101 RGD
1298084 Thym4 Thymus enlargement QTL 4 qtl DOID:9004911 Thymus Hyperplasia IDA D RGD:70859|PMID:10792781 19990101 RGD
1298085 Bp165 Blood pressure QTL 165 qtl DOID:10763 hypertension IAGP D RGD:728179|PMID:11980293 19990101 RGD
1298086 Bp156 Blood pressure QTL 156 qtl DOID:9006024 Hypotension IDA D RGD:619649|PMID:11875185 19990101 RGD
1298087 Iddm18 Insulin dependent diabetes mellitus QTL 18 qtl DOID:9744 type 1 diabetes mellitus IAGP D RGD:619685|PMID:11327715 19990101 RGD
1298088 Edpm11 Estrogen-dependent pituitary mass QTL 11 qtl DOID:9002234 Pituitary Neoplasms IAGP D RGD:629550|PMID:11003699 19990101 RGD
1298089 Scl14 Serum cholesterol level QTL 14 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:737694|PMID:14739155 19990101 RGD
1298090 Bp155 Blood pressure QTL 155 qtl DOID:10763 hypertension IAGP D RGD:731210|PMID:14678232 20100217 RGD
1298093 LEW/NHsd strain DOID:0050742 nicotine dependence IAGP D RGD:401959299|PMID:21745336 20240118 RGD compared to Fischer344 rats
1298524 Oia8 Oil induced arthritis QTL 8 qtl DOID:9002457 Experimental Arthritis IAGP D RGD:629560|PMID:12571866 19990101 RGD
1298525 Cm1 Cardiac mass QTL 1 qtl DOID:10763 hypertension IAGP D RGD:69710|PMID:9383281 19990101 RGD
1298525 Cm1 Cardiac mass QTL 1 qtl DOID:9003936 Cardiomegaly IAGP D RGD:69710|PMID:9383281 19990101 RGD
1298528 Bp169 Blood pressure QTL 169 qtl DOID:9006024 Hypotension IDA D RGD:69711|PMID:11247666 19990101 RGD
1299871 DA.F344-(D20Arb2-D20Arb8)/Arb strain DOID:7148 rheumatoid arthritis MODEL: induced IAGP XCO:0000281 D RGD:629569|PMID:12209529 20070214 RGD
1299872 DA.F344-(D8Arb15-D8Arb22)/Arb strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000281|XCO:0000263 D RGD:629569|PMID:12209529 20200720 RGD
1299872 DA.F344-(D8Arb15-D8Arb22)/Arb strain DOID:9002457 Experimental Arthritis penetrance IAGP XCO:0000265 D RGD:629569|PMID:12209529 20200720 RGD
1299875 DA.F344-(D7Rat22-D7Mit2)/Nsi strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000281|XCO:0000263|XCO:0000265 D RGD:629569|PMID:12209529 20200720 RGD
1299876 SS.LEW-(D5Rat54-D5Rat108)/Jr strain DOID:10763 hypertension induced IAGP XCO:0000022 D RGD:619649|PMID:11875185 19990101 RGD
1299877 DA.F344-(D10Rat204-D10Arb22)/Arb strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000281|XCO:0000263 D RGD:629569|PMID:12209529 20200720 RGD
1299877 DA.F344-(D10Rat204-D10Arb22)/Arb strain DOID:9002457 Experimental Arthritis penetrance IAGP XCO:0000265 D RGD:629569|PMID:12209529 20200720 RGD
1299878 DA.F344-(D4Arb30-D4Arb4)/Arb strain DOID:9002457 Experimental Arthritis MODEL: induced IAGP XCO:0000281| XCO:0000263 D RGD:7243954|PMID:22076633 20130604 RGD
1299878 DA.F344-(D4Arb30-D4Arb4)/Arb strain DOID:9002457 Experimental Arthritis induced IAGP XCO:0000281|XCO:0000263 D RGD:629569|PMID:12209529 20200720 RGD
1299878 DA.F344-(D4Arb30-D4Arb4)/Arb strain DOID:9002457 Experimental Arthritis penetrance IAGP XCO:0000265 D RGD:629569|PMID:12209529 20200720 RGD
1299880 F344.DA-(D20Arb2-D20Arb8)/Arb strain DOID:848 arthritis induced IAGP XCO:0000281,XCO:0000263,XCO:0000265 D RGD:629569|PMID:12209529 19990101 RGD compared to DA/Bkl
1300075 Glom7 Glomerulus QTL 7 qtl DOID:9001542 Albuminuria IAGP D RGD:730279|PMID:14638907 19990101 RGD
1300076 Glom8 Glomerulus QTL 8 qtl DOID:9001542 Albuminuria IAGP D RGD:730279|PMID:14638907 19990101 RGD
1300107 Rf18 Renal function QTL 18 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300107 Rf18 Renal function QTL 18 qtl DOID:9005274 Polyuria IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300108 Rf8 Renal function QTL 8 qtl DOID:1073 renal hypertension IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300108 Rf8 Renal function QTL 8 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300109 Rf13 Renal function QTL 13 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300110 Stl7 Serum triglyceride level QTL 7 qtl DOID:9006599 Hypertriglyceridemia IDA D RGD:727992|PMID:14532335 19990101 RGD
1300111 Rf12 Renal function QTL 12 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300111 Rf12 Renal function QTL 12 qtl DOID:557 kidney disease IDA D RGD:727992|PMID:14532335 19990101 RGD
1300112 Bp183 Blood pressure QTL 183 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300113 Bp176 Blood pressure QTL 176 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300114 Srn2 Serum renin concentration QTL 2 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300115 Hrtrt7 Heart rate QTL 7 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300116 Hrtrt5 Heart rate QTL 5 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300117 Hrtrt8 Heart rate QTL 8 qtl DOID:9006599 Hypertriglyceridemia IDA D RGD:727992|PMID:14532335 19990101 RGD
1300118 Bp190 Blood pressure QTL 190 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300119 Bp180 Blood pressure QTL 180 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300120 Kidm7 Kidney mass QTL 7 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300121 Hrtrt1 Heart rate QTL 1 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300122 Wbc1 White blood cell count QTL 1 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300122 Wbc1 White blood cell count QTL 1 qtl DOID:9005372 Inflammation IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300123 Bp194 Blood pressure QTL 194 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300124 Cm4 Cardiac mass QTL 4 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300124 Cm4 Cardiac mass QTL 4 qtl DOID:9003936 Cardiomegaly IDA D RGD:727992|PMID:14532335 19990101 RGD
1300125 Rf26 Renal function QTL 26 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300126 Bp175 Blood pressure QTL 175 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300127 Srn1 Serum renin concentration QTL 1 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300128 Rf16 Renal function QTL 16 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300129 Rf25 Renal function QTL 25 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300130 Rf20 Renal function QTL 20 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300130 Rf20 Renal function QTL 20 qtl DOID:1312 focal segmental glomerulosclerosis IDA D RGD:727992|PMID:14532335 19990101 RGD
1300131 Bp193 Blood pressure QTL 193 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300132 Bp182 Blood pressure QTL 182 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300133 Rf24 Renal function QTL 24 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300134 Bp185 Blood pressure QTL 185 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300135 Rf19 Renal function QTL 19 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300135 Rf19 Renal function QTL 19 qtl DOID:576 proteinuria IDA D RGD:727992|PMID:14532335 19990101 RGD
1300136 Rf22 Renal function QTL 22 qtl DOID:1073 renal hypertension IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300136 Rf22 Renal function QTL 22 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300137 Bp186 Blood pressure QTL 186 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300138 Hrtrt9 Heart rate QTL 9 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300139 Hrtrt6 Heart rate QTL 6 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300140 Srn3 Serum renin concentration QTL 3 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300141 Bp178 Blood pressure QTL 178 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300142 Bp191 Blood pressure QTL 191 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300143 Rf14 Renal function QTL 14 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300144 Rf23 Renal function QTL 23 qtl DOID:1073 renal hypertension IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300144 Rf23 Renal function QTL 23 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300145 Rf7 Renal function QTL 7 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300146 Rf17 Renal function QTL 17 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300147 Bp187 Blood pressure QTL 187 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300148 Bp192 Blood pressure QTL 192 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300149 Cm6 Cardiac mass QTL 6 qtl DOID:9003936 Cardiomegaly IDA D RGD:727992|PMID:14532335 19990101 RGD
1300150 Cm3 Cardiac mass QTL 3 qtl DOID:9003936 Cardiomegaly IDA D RGD:727992|PMID:14532335 19990101 RGD
1300151 Bp181 Blood pressure QTL 181 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300152 Bp195 Blood pressure QTL 195 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300153 Bp171 Blood pressure QTL 171 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300154 Bp189 Blood pressure QTL 189 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300155 Bp174 Blood pressure QTL 174 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300155 Bp174 Blood pressure QTL 174 qtl DOID:576 proteinuria IDA D RGD:727992|PMID:14532335 19990101 RGD
1300156 Bp179 Blood pressure QTL 179 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300157 Rf21 Renal function QTL 21 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300157 Rf21 Renal function QTL 21 qtl DOID:557 kidney disease IDA D RGD:727992|PMID:14532335 19990101 RGD
1300158 Bp173 Blood pressure QTL 173 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300159 Kidm4 Kidney mass QTL 4 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300160 Hrtrt3 Heart rate QTL 3 qtl DOID:10763 hypertension IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300160 Hrtrt3 Heart rate QTL 3 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300161 Rf10 Renal function QTL 10 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300162 Bp188 Blood pressure QTL 188 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300163 Cardf1 Cardiac cell morphology QTL 1 qtl DOID:520 aortic disease IDA D RGD:727992|PMID:14532335 19990101 RGD
1300164 Rf15 Renal function QTL 15 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300165 Rf9 Renal function QTL 9 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300165 Rf9 Renal function QTL 9 qtl DOID:1312 focal segmental glomerulosclerosis IDA D RGD:727992|PMID:14532335 19990101 RGD
1300166 Kidm6 Kidney mass QTL 6 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300167 Hrtrt2 Heart rate QTL 2 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300168 Bp170 Blood pressure QTL 170 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300169 Bp177 Blood pressure QTL 177 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300170 Rf6 Renal function QTL 6 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300171 Bp184 Blood pressure QTL 184 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300172 Bp172 Blood pressure QTL 172 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300173 Rf11 Renal function QTL 11 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300175 Cm5 Cardiac mass QTL 5 qtl DOID:9003936 Cardiomegaly IDA D RGD:727992|PMID:14532335 19990101 RGD
1300176 Hrtrt10 Heart rate QTL 10 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300177 Cm2 Cardiac mass QTL 2 qtl DOID:10763 hypertension IDA D RGD:727992|PMID:14532335 19990101 RGD
1300177 Cm2 Cardiac mass QTL 2 qtl DOID:9003936 Cardiomegaly IDA D RGD:727992|PMID:14532335 19990101 RGD
1300178 Hrtrt4 Heart rate QTL 4 qtl DOID:114 heart disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1300179 Kidm5 Kidney mass QTL 5 qtl DOID:557 kidney disease IAGP D RGD:727992|PMID:14532335 19990101 RGD
1302372 SDDIO/Rrrc strain DOID:9970 obesity MODEL: spontaneous IAGP D RGD:1302371|PMID:9277561 19990101 RGD compared to SDDR/Rrrc strain
1302372 SDDIO/Rrrc strain DOID:9970 obesity MODEL: spontaneous IAGP D RGD:21408576|PMID:27173431 20200320 RGD compared to SDDR/Rrrc strain
1302373 SDDR/Rrrc strain DOID:9970 obesity MODEL: control IAGP D RGD:1302371|PMID:9277561 20200320 RGD compared to SDDIO/Rrrc strain
1302373 SDDR/Rrrc strain DOID:9970 obesity MODEL: control IAGP D RGD:21408576|PMID:27173431 20200320 RGD compared to SDDIO/Rrrc strain
1302377 SPRD-Anks6PKD/Rrrc strain DOID:0080322 polycystic kidney disease IAGP D RGD:1300446|PMID:7933831 20200416 RGD
1302377 SPRD-Anks6PKD/Rrrc strain DOID:4676 uremia IAGP D RGD:1300446|PMID:7933831 20200416 RGD
1302377 SPRD-Anks6PKD/Rrrc strain DOID:576 proteinuria IAGP D RGD:1300446|PMID:7933831 20200416 RGD
1302404 Cia27 Collagen induced arthritis QTL 27 qtl DOID:9002457 Experimental Arthritis IDA D RGD:61063|PMID:9870869 19990101 RGD
1302597 LEXF7C/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302600 HTX/Kyo hydrocephalus texas strain DOID:10908 hydrocephalus penetrance IAGP D RGD:1302443|PMID:10661794 19990101 RGD
1302604 LEXF4/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 19990101 RGD
1302604 LEXF4/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302605 LEXF2A/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 19990101 RGD
1302605 LEXF2A/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302610 KMI/Tky miniature rat ishikawa strain DOID:9007661 Dwarfism IAGP D RGD:150429792|PMID:15466490 20210929 RGD compared to wild type
1302610 KMI/Tky miniature rat ishikawa strain DOID:9007661 Dwarfism IAGP D RGD:150429793|PMID:19149413 20210929 RGD compared to wild type, and heterozygous litter mates
1302612 LEXF10C/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302616 LEXF10B/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302618 LEXF9/Stm strain DOID:0080916 erythroleukemia induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 19990101 RGD
1302621 LEXF10A/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302623 TM/Kyo tester moriyama rat strain DOID:2223 platelet storage pool deficiency IAGP D RGD:1302447|PMID:9250486 19990101 RGD
1302627 F344/NSlc strain DOID:4195 hyperglycemia MODEL: control IAGP XCO:0000275 D RGD:625760|PMID:12420133 20201201 RGD compared to F.O-Nidd4/of,F.O-Nidd10/of,F.O-Nidd1/of,F.O-Nidd3/of
1302627 F344/NSlc strain DOID:9351 diabetes mellitus MODEL: control IAGP D RGD:2298688|PMID:18612083 20200130 RGD compared to SDT/Jcl
1302636 WKY.SHRSP-(D1Wox29-D1Arb21)/Izm strain DOID:10763 hypertension susceptibility IAGP D RGD:1302892|PMID:15480093 19990101 RGD compared to WKY/Izm
1302636 WKY.SHRSP-(D1Wox29-D1Arb21)/Izm strain DOID:9003968 Stress-Induced Hypertension induced IAGP XCO:0000337 D RGD:1578503|PMID:16239369 20191209 RGD compared to hypertensive strain SHRSP/Izm
1302638 LEXF11/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302641 LEXF1A/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302645 DMY/Kyo demyelination rat strain DOID:3213 demyelinating disease MODEL: spontaneous IAGP D RGD:12793070|PMID:21253565 20170320 RGD DNA:missense mutation:intron (Mrs2)
1302646 LEXF2C/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302648 LEC/Hok Long Evans Cinnamon strain DOID:2237 hepatitis IAGP D RGD:1302497|PMID:3429843 19990101 RGD
1302648 LEC/Hok Long Evans Cinnamon strain DOID:2237 hepatitis IAGP D RGD:25823153|PMID:3392951 20200501 RGD
1302648 LEC/Hok Long Evans Cinnamon strain DOID:684 hepatocellular carcinoma onset IAGP D RGD:15036817|PMID:8291609 20191120 RGD
1302648 LEC/Hok Long Evans Cinnamon strain DOID:893 Wilson disease MODEL IAGP XCO:0000212 D RGD:25823141|PMID:30733544 20200708 RGD compared to LEA/Hok
1302648 LEC/Hok Long Evans Cinnamon strain DOID:893 Wilson disease MODEL: induced IAGP XCO:0000212 D RGD:35316074|PMID:24358170 20200708 RGD compared to LEA/Hok
1302648 LEC/Hok Long Evans Cinnamon strain DOID:893 Wilson disease MODEL: spontaneous IAGP D RGD:25823154|PMID:1561010 20200501 RGD
1302648 LEC/Hok Long Evans Cinnamon strain DOID:893 Wilson disease MODEL: spontaneous IAGP D RGD:631728|PMID:7951327 20170628 RGD
1302648 LEC/Hok Long Evans Cinnamon strain DOID:9004590 Acute Liver Failure IAGP D RGD:15036817|PMID:8291609 20191120 RGD
1302649 LEXF7B/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 19990101 RGD
1302649 LEXF7B/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302652 LEXF7A/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302653 LEXF8A/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 19990101 RGD
1302654 F344.OLETF-(D7Mgh16-D7Mgh20)/Tj strain DOID:4195 hyperglycemia MODEL: induced IAGP XCO:0000275 D RGD:625760|PMID:12420133 20201201 RGD compared to F344/NSlc
1302660 RCS/Kyo royal college of surgeons rat strain DOID:8466 retinal degeneration MODEL: spontaneous IAGP D RGD:69668|PMID:11592982 20190802 RGD
1302663 F344.OLETF-(D11Rat4-D11Rat1)/Tj strain DOID:4195 hyperglycemia MODEL: induced IAGP XCO:0000275 D RGD:625760|PMID:12420133 20201201 RGD compared to F344/NSlc
1302666 LEXF1C/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302678 NAR/Slc non albumin rat strain DOID:9000568 Analbuminemia susceptibility IAGP D RGD:126781840|PMID:451621 20210421 RGD
1302679 TRMR/Kyo tremor resistant strain DOID:9000495 Tremor MODEL: control IAGP D RGD:11060746|PMID:25970616 20200910 RGD compared to TRM/Kyo
1302679 TRMR/Kyo tremor resistant strain DOID:9000495 Tremor MODEL: induced IMP D RGD:11060746|PMID:25970616 20180103 RGD induced by HCN1 channel blocker ZD7288
1302685 F344.OLETF-(D14Rat8-D14Rat26)/Tj strain DOID:4195 hyperglycemia MODEL: induced IAGP XCO:0000275 D RGD:625760|PMID:12420133 20090211 RGD compared to F344/NSlc
1302686 F344/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302695 SER/Kyo spontaneously epileptic rat strain DOID:11832 visual epilepsy MODEL: spontaneous IAGP D RGD:1302445|PMID:3559168 20200923 RGD compared to heterozygous rats
1302695 SER/Kyo spontaneously epileptic rat strain DOID:11832 visual epilepsy MODEL: spontaneous IAGP D RGD:1600256|PMID:17326796 20070306 RGD compared to Wistar rats
1302695 SER/Kyo spontaneously epileptic rat strain DOID:7725 epilepsy with generalized tonic-clonic seizures treatment IAGP D RGD:39128157|PMID:16146430 20200923 RGD
1302697 KND/Tky komeda non-diabetic rat strain DOID:9744 type 1 diabetes mellitus MODEL: control IAGP D RGD:41412159|PMID:10395228 20210218 RGD compared to KDP/Tky
1302698 SDR/Slc Spontaneous dwarf rat strain DOID:0060870 isolated growth hormone deficiency IAGP D RGD:1578505|PMID:2752987 19990101 RGD
1302698 SDR/Slc Spontaneous dwarf rat strain DOID:9007661 Dwarfism IAGP D RGD:1578505|PMID:2752987 20170504 RGD
1302698 SDR/Slc Spontaneous dwarf rat strain DOID:9007661 Dwarfism IAGP D RGD:1578506|PMID:2152867 20170504 RGD
1302699 LEXF8D/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302699 LEXF8D/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302702 TRM/Kyo tremor rat strain DOID:1825 childhood absence epilepsy MODEL: spontaneous IAGP D RGD:13602101|PMID:3104669 20090209 RGD
1302702 TRM/Kyo tremor rat strain DOID:9000495 Tremor IAGP D RGD:11060746|PMID:25970616 20180103 RGD
1302707 LEXF3/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 19990101 RGD
1302707 LEXF3/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302710 LEXF2B/Stm strain DOID:0081312 T-cell non-Hodgkin lymphoma induced IAGP XCO:0000437 D RGD:619600|PMID:10360666 20200320 RGD
1302711 ExHC/Seac strain DOID:9000808 Hypercholesterolemia induced IAGP XCO:0000246, XCO:0000025 D RGD:2300117|PMID:18753676 20100217 RGD
1302713 F344.OLETF-(D8Rat58-D8Mgh17)/Tj strain DOID:4195 hyperglycemia IAGP D RGD:2300331|PMID:18421176 20080912 RGD heterozygous genotype at the Niddm21 locus
1302713 F344.OLETF-(D8Rat58-D8Mgh17)/Tj strain DOID:4195 hyperglycemia MODEL: induced IAGP XCO:0000275 D RGD:625760|PMID:12420133 20201201 RGD compared to F344/NSlc
1302721 LEC/Tj strain DOID:2697 renal adenoma induced IAGP XCO:0000206 D RGD:1302456|PMID:11509115 20191119 RGD
1302721 LEC/Tj strain DOID:686 liver carcinoma induced IAGP XCO:0000206 D RGD:1302456|PMID:11509115 20191119 RGD
1302721 LEC/Tj strain DOID:9007188 Liver Neoplasms IAGP D RGD:1302456|PMID:11509115 20191119 RGD
1302723 LEXF5/Stm strain DOID:0080916 erythroleukemia penetrance IAGP XCO:0000437 D RGD:619600|PMID:10360666 19990101 RGD
1302728 MES/Slc Matsumoto Eosinophilia Shinshu strain DOID:9001371 Eosinophilia IAGP D RGD:11040542|PMID:19406829 20170828 RGD
1302728 MES/Slc Matsumoto Eosinophilia Shinshu strain DOID:9001371 Eosinophilia IAGP D RGD:5134976|PMID:20660993 20200708 RGD
1302728 MES/Slc Matsumoto Eosinophilia Shinshu strain DOID:9001371 Eosinophilia IAGP D RGD:5134988|PMID:21512270 20110711 RGD
1302786 Kidm8 Kidney mass QTL 8 qtl DOID:0080322 polycystic kidney disease IDA D RGD:629573|PMID:9097967 19990101 RGD
1302786 Kidm8 Kidney mass QTL 8 qtl DOID:4676 uremia IDA D RGD:629573|PMID:9097967 19990101 RGD
1302787 Stl25 Serum triglyceride level QTL 25 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:1299960|PMID:14709677 19990101 RGD
1302788 Scl19 Serum cholesterol QTL 19 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:1299960|PMID:14709677 19990101 RGD
1302789 Stl26 Serum triglyceride level QTL 26 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:1299960|PMID:14709677 19990101 RGD
1302791 Stl29 Serum triglyceride level QTL 29 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:1299960|PMID:14709677 19990101 RGD
1302791 Stl29 Serum triglyceride level QTL 29 qtl DOID:9006599 Hypertriglyceridemia IAGP D RGD:1299960|PMID:14709677 20121002 RGD
1302791 Stl29 Serum triglyceride level QTL 29 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1299960|PMID:14709677 20121002 RGD
1302793 Bw16 Body weight QTL 16 qtl DOID:9006646 Metabolic Syndrome IAGP D RGD:1299960|PMID:14709677 19990101 RGD
1302793 Bw16 Body weight QTL 16 qtl DOID:9970 obesity IAGP D RGD:1299960|PMID:14709677 19990101 RGD
1302794 Stl27 Serum triglyceride level QTL 27 qtl DOID:9000808 Hypercholesterolemia IDA D RGD:1299960|PMID:14709677 19990101 RGD
1302795 HTG Prague hypertriglyceridemic strain DOID:10763 hypertension IAGP D RGD:1299960|PMID:14709677 19990101 RGD
1302795 HTG Prague hypertriglyceridemic strain DOID:10763 hypertension IAGP D RGD:1303386|PMID:14640890 20200416 RGD
1302795 HTG Prague hypertriglyceridemic strain DOID:9006599 Hypertriglyceridemia IAGP D RGD:1299960|PMID:14709677 19990101 RGD
1302921 F344-Tg(NPHS2-HBEGF)Wig strain DOID:0050851 glomerulosclerosis induced IMP XCO:0000736 D RGD:1556472|PMID:16107576 20200908 RGD
1302934 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:0060356 Vici syndrome ISO RGD:1349184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532
1302934 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1349184 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:31690835
1302934 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1349184 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability
1302934 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1349184 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532
1302935 Nudt19 nudix hydrolase 19 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532
1302936 C1rl complement C1r subcomponent like gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1346889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532
1302936 C1rl complement C1r subcomponent like gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1346889 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896
1302936 C1rl complement C1r subcomponent like gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1346889 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532
1302936 C1rl complement C1r subcomponent like gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1346889 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896
1302936 C1rl complement C1r subcomponent like gene DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 ISO RGD:1346889 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 PMID:25741868|PMID:27745832
1302936 C1rl complement C1r subcomponent like gene DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 ISO RGD:1346889 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 PMID:25741868|PMID:27745832
1302936 C1rl complement C1r subcomponent like gene DOID:0111621 Temtamy syndrome ISO RGD:1346889 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532
1302936 C1rl complement C1r subcomponent like gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346889 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098
1302937 Krt13 keratin 13 gene DOID:0050448 white sponge nevus ISO RGD:1349257 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism
1302937 Krt13 keratin 13 gene DOID:0050448 white sponge nevus ISS RGD:1332221 D RGD:13592920 20230718 MouseDO
1302937 Krt13 keratin 13 gene DOID:0081287 white sponge nevus 1 ISO RGD:1349257 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: White sponge nevus 1
1302937 Krt13 keratin 13 gene DOID:0081288 white sponge nevus 2 ISO RGD:1349257 D RGD:7240710 20230201 OMIM
1302937 Krt13 keratin 13 gene DOID:0081288 white sponge nevus 2 ISO RGD:1349257 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: White sponge nevus 2 PMID:14600690|PMID:25741868|PMID:28492532|PMID:7493031|PMID:7532199
1302937 Krt13 keratin 13 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1349257 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111
1302937 Krt13 keratin 13 gene DOID:630 genetic disease ISO RGD:1349257 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868
1302937 Krt13 keratin 13 gene DOID:9007168 Genetic Skin Diseases susceptibility ISO RGD:1349257 D RGD:1304472|PMID:7493031 20070301 RGD DNA:missense mutation: ; white sponge nevus, OMIM:193900
1302939 Eef1g eukaryotic translation elongation factor 1 gamma gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532
1302939 Eef1g eukaryotic translation elongation factor 1 gamma gene DOID:1059 intellectual disability ISO RGD:1349957 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1302941 P2ry13 purinergic receptor P2Y13 gene DOID:0050579 glycogen storage disease XV ISO RGD:1602708 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0050476 Barth syndrome ISO RGD:1349319 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1349319 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0111823 autosomal hemophilia A ISO RGD:1349319 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349319 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:12180070|PMID:15351775|PMID:15689435|PMID:15841480|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:18562171|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23810759|PMID:26930212|PMID:28492532
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349319 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1349319 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1349319 D RGD:7240710 20131106 OMIM
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1349319 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: BCAP31-related condition | ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome PMID:24011989|PMID:25741868|PMID:28492532|PMID:33603160|PMID:35887114
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:10003 sensorineural hearing loss ISO RGD:1349319 D RGD:7483567|PMID:24011989 20131202 RGD DNA:mutation, deletion:exon:p.Q33X (human)
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349319 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:25741868|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:10907 microcephaly ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349319 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:12134 factor VIII deficiency ISO RGD:1349319 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:12849 autistic disorder ISO RGD:1349319 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:13628 favism ISO RGD:1349319 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:28492532|PMID:35384376|PMID:9384614
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:2729 dyskeratosis congenita ISO RGD:1349319 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:28492532|PMID:35384376|PMID:9384614
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:607 paraplegia ISO RGD:1349319 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:630 genetic disease ISO RGD:1349319 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10329713|PMID:17056546|PMID:18287538|PMID:24597975|PMID:25741868|PMID:28492532
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:9002720 Splenomegaly ISO RGD:1349319 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:9005521 Chromosome Xq28 Duplication Syndrome ISO RGD:1349319 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome
1302944 Bcap31 B-cell receptor-associated protein 31 gene DOID:9008086 Developmental Disabilities ISO RGD:1349319 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868
1302945 Naprt nicotinate phosphoribosyltransferase gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1602193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526
1302945 Naprt nicotinate phosphoribosyltransferase gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1602193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526
1302945 Naprt nicotinate phosphoribosyltransferase gene DOID:4621 holoprosencephaly ISO RGD:1602193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532
1302945 Naprt nicotinate phosphoribosyltransferase gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:1602193 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835
1302948 Tacc3 transforming, acidic coiled-coil containing protein 3 gene DOID:11054 urinary bladder cancer ISO RGD:1353438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121792
1302948 Tacc3 transforming, acidic coiled-coil containing protein 3 gene DOID:1856 cherubism ISO RGD:1353438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532
1302948 Tacc3 transforming, acidic coiled-coil containing protein 3 gene DOID:2671 transitional cell carcinoma ISO RGD:1353438 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121792
1302948 Tacc3 transforming, acidic coiled-coil containing protein 3 gene DOID:2871 endometrial carcinoma ISO RGD:1353438 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma
1302948 Tacc3 transforming, acidic coiled-coil containing protein 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353438 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868
1302948 Tacc3 transforming, acidic coiled-coil containing protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1353438 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560
1302949 Tanc1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 gene DOID:1059 intellectual disability ISO RGD:1604561 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Intellectual disability
1302949 Tanc1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 gene DOID:12849 autistic disorder ISO RGD:1604561 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213
1302950 Rnf166 ring finger protein 166 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1351592 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532
1302950 Rnf166 ring finger protein 166 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1351592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532
1302950 Rnf166 ring finger protein 166 gene DOID:13636 Fanconi anemia ISO RGD:1351592 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532
1302950 Rnf166 ring finger protein 166 gene DOID:14780 KBG syndrome ISO RGD:1351592 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:28492532|PMID:31602316|PMID:31690835
1302950 Rnf166 ring finger protein 166 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1351592 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
1302952 Cops4 COP9 signalosome subunit 4 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1345570 D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome
1302954 Spata21 spermatogenesis associated 21 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602628 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome
1302954 Spata21 spermatogenesis associated 21 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602628 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543
1302954 Spata21 spermatogenesis associated 21 gene DOID:9007188 Liver Neoplasms ISO RGD:1602628 D RGD:11554173 20191029 CTD CTD Direct Evidence: marker/mechanism PMID:19233941
1302955 Ddah2 DDAH family member 2, ADMA-independent gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1346413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1302955 Ddah2 DDAH family member 2, ADMA-independent gene DOID:10591 pre-eclampsia ISO RGD:1346413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22285683
1302955 Ddah2 DDAH family member 2, ADMA-independent gene DOID:3393 coronary artery disease ISO RGD:1346413 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17267746
1302956 Spink2 serine peptidase inhibitor, Kazal type 2 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1349585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532
1302956 Spink2 serine peptidase inhibitor, Kazal type 2 gene DOID:0111930 spermatogenic failure 29 ISO RGD:1349585 D RGD:7240710 20190315 OMIM
1302956 Spink2 serine peptidase inhibitor, Kazal type 2 gene DOID:0111930 spermatogenic failure 29 ISO RGD:1349585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 29 PMID:25741868|PMID:28554943
1302956 Spink2 serine peptidase inhibitor, Kazal type 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349585 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:1279971|PMID:15194144|PMID:1720553|PMID:28492532|PMID:7529964
1302957 Kcne4 potassium voltage-gated channel subfamily E regulatory subunit 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346142 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1302958 Zbtb12 zinc finger and BTB domain containing 12 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1342499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1302959 Crip2 cysteine-rich protein 2 gene DOID:0080600 COVID-19 ISO RGD:1351980 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1302961 Scgb1d4 secretoglobin family 1D member 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532
1302961 Scgb1d4 secretoglobin family 1D member 4 gene DOID:1059 intellectual disability ISO RGD:1606365 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1302962 Mug2 murinoglobulin 2 gene DOID:0080600 COVID-19 ISO RGD:736140 D RGD:9068941 20230330 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1302962 Mug2 murinoglobulin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:736140 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:28284560
1302962 Mug2 murinoglobulin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736140 D RGD:11554173 20230329 CTD CTD Direct Evidence: marker/mechanism PMID:16099942
1302963 Dhx16 DEAH-box helicase 16 gene DOID:1059 intellectual disability ISO RGD:1344132 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31256877
1302963 Dhx16 DEAH-box helicase 16 gene DOID:11372 megacolon ISO RGD:1344132 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1302963 Dhx16 DEAH-box helicase 16 gene DOID:1826 epilepsy ISO RGD:1344132 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31256877
1302963 Dhx16 DEAH-box helicase 16 gene DOID:630 genetic disease ISO RGD:1344132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868
1302963 Dhx16 DEAH-box helicase 16 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1344132 D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31256877
1302963 Dhx16 DEAH-box helicase 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344132 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:31256877
1302963 Dhx16 DEAH-box helicase 16 gene DOID:9004696 Neuromuscular Oculoauditory Syndrome ISO RGD:1344132 D RGD:7240710 20200226 OMIM
1302963 Dhx16 DEAH-box helicase 16 gene DOID:9004696 Neuromuscular Oculoauditory Syndrome ISO RGD:1344132 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: DHX16-related condition | ClinVar Annotator: match by term: Neuromuscular disease and ocular or auditory anomalies with or without seizures PMID:25741868|PMID:28492532|PMID:31256877
1302964 Tsga10ip testis specific 10 interacting protein gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1346501 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532
1302964 Tsga10ip testis specific 10 interacting protein gene DOID:1059 intellectual disability ISO RGD:1346501 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1302964 Tsga10ip testis specific 10 interacting protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268
1302964 Tsga10ip testis specific 10 interacting protein gene DOID:2746 glycogen storage disease V ISO RGD:1346501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268
1302964 Tsga10ip testis specific 10 interacting protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346501 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532
1302964 Tsga10ip testis specific 10 interacting protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532
1302965 Pon3 paraoxonase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1344009 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546
1302965 Pon3 paraoxonase 3 gene DOID:10608 celiac disease ISO RGD:1344009 D RGD:5509924|PMID:17664137 20111111 RGD mRNA:decreased expression:duodenum (human)
1302965 Pon3 paraoxonase 3 gene DOID:10652 Alzheimer's disease ISO RGD:1344009 D RGD:5509926|PMID:16319130 20111111 RGD DNA:polymorphisms:multiple SNPs (human)
1302965 Pon3 paraoxonase 3 gene DOID:1936 atherosclerosis ISO RGD:1344009 D RGD:5509927|PMID:20182519 20111111 RGD mRNA:altered expression::human transgene expression in ApoE-KO mice was protective
1302965 Pon3 paraoxonase 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1344009 D RGD:5509925|PMID:16822964 20111111 RGD DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2 (human)
1302965 Pon3 paraoxonase 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1344009 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532
1302965 Pon3 paraoxonase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344009 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1302965 Pon3 paraoxonase 3 gene DOID:8577 ulcerative colitis ISO RGD:1344009 D RGD:5509924|PMID:17664137 20111111 RGD mRNA:decreased expression:colon (human)
1302965 Pon3 paraoxonase 3 gene DOID:8778 Crohn's disease ISO RGD:1344009 D RGD:5509924|PMID:17664137 20111111 RGD mRNA:decreased expression:terminal ileum (human)
1302966 Nrm nurim gene DOID:0050741 alcohol dependence ISO RGD:1352240 D RGD:405650603|PMID:27151647 20240429 RGD associated with other drug dependencies; DNA:SNPs:CDS:intron (rs2269705)
1302966 Nrm nurim gene DOID:11372 megacolon ISO RGD:1352240 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1302969 Phf23 PHD finger protein 23 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1601853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285
1302969 Phf23 PHD finger protein 23 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1601853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532
1302969 Phf23 PHD finger protein 23 gene DOID:1059 intellectual disability ISO RGD:1601853 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild
1302969 Phf23 PHD finger protein 23 gene DOID:12177 common variable immunodeficiency ISO RGD:1601853 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532
1302969 Phf23 PHD finger protein 23 gene DOID:2729 dyskeratosis congenita ISO RGD:1601853 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532
1302969 Phf23 PHD finger protein 23 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1601853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532
1302969 Phf23 PHD finger protein 23 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1601853 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome
1302969 Phf23 PHD finger protein 23 gene DOID:9003915 Faundes-Banka Syndrome ISO RGD:1601853 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Faundes-Banka syndrome PMID:31690835
1302970 Prss46 protease, serine, 46 gene DOID:9008939 Breast Neoplasms ISO RGD:1552176 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29915430
1302971 Adm2 adrenomedullin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310
1302971 Adm2 adrenomedullin 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1348112 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835
1302971 Adm2 adrenomedullin 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1348112 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome
1302971 Adm2 adrenomedullin 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1348112 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313
1302971 Adm2 adrenomedullin 2 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1348112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532
1302971 Adm2 adrenomedullin 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1348112 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139
1302971 Adm2 adrenomedullin 2 gene DOID:1059 intellectual disability ISO RGD:1348112 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1302971 Adm2 adrenomedullin 2 gene DOID:178 vascular disease ISO RGD:1348112 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:19910445
1302971 Adm2 adrenomedullin 2 gene DOID:864 phlebitis ISO RGD:1348112 D RGD:11554173 20230801 CTD CTD Direct Evidence: therapeutic PMID:34434487
1302971 Adm2 adrenomedullin 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1348112 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16987513
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1605700 D RGD:9589169|PMID:24652950 20141110 RGD
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1605700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:0050696 fetal alcohol spectrum disorder IEP D RGD:11344152|PMID:26509893 20240130 RGD mRNA:increased expression:pituitary gland (rat)
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:1909 melanoma disease_progression ISO RGD:1605700 D RGD:9590069|PMID:24658378 20141112 RGD
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1605700 D RGD:9590071|PMID:24805087 20141112 RGD protein:increased expression:esophagus mucosa:
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1605700 D RGD:9589170|PMID:20940408 20141110 RGD
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:4001 ovarian carcinoma ISO RGD:1605700 D RGD:11554173 20221213 CTD CTD Direct Evidence: marker/mechanism PMID:25115793
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:5223 infertility ISO RGD:1605700 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25975992
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605700 D RGD:9590069|PMID:24658378 20141112 RGD associated with Melanoma;
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605700 D RGD:9590071|PMID:24805087 20141112 RGD associated with Esophageal Squamous Cell Carcinoma;
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605700 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20940408|PMID:25115793
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605700 D RGD:9589170|PMID:20940408 20141110 RGD associated with lung neoplasms;
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9004203 Chromosome Breakage ISO RGD:1605700 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29391238
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9004379 Vesicular Stomatitis ISO RGD:1605700 D RGD:11554173 20161115 CTD CTD Direct Evidence: therapeutic PMID:26418342
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1605700 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20940408
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1605700 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20056891
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9006302 Binge Drinking IEP D RGD:597538603|PMID:37402853 20250131 RGD mRNA:increased expression:basal forebrain cholinergic neurons
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1605700 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29391238
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1605700 D RGD:9589147|PMID:19843671 20141110 RGD DNA:SNP: :rs535586(human)
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1605700 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:24532712
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1550173 D RGD:9589168|PMID:24532712 20141110 RGD
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:986 alopecia areata ISO RGD:1605700 D RGD:9587460|PMID:21936853 20141112 RGD mRNA:increased expression:mononuclear cell:
1302972 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1605700 D RGD:11554173 20210601 CTD CTD Direct Evidence: marker/mechanism PMID:32889036
1302973 Rxfp1 relaxin family peptide receptor 1 gene DOID:11372 megacolon ISO RGD:1351067 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1302973 Rxfp1 relaxin family peptide receptor 1 gene DOID:289 endometriosis ISO RGD:1351067 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21063030
1302974 Tcf19 transcription factor 19 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1345711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1302974 Tcf19 transcription factor 19 gene DOID:10003 sensorineural hearing loss ISO RGD:1345711 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868
1302974 Tcf19 transcription factor 19 gene DOID:11372 megacolon ISO RGD:1345711 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1302974 Tcf19 transcription factor 19 gene DOID:684 hepatocellular carcinoma ISO RGD:1345711 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560
1302974 Tcf19 transcription factor 19 gene DOID:9002928 Colonic Neoplasms ISO RGD:1345711 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15059925
1302976 Rpl18a ribosomal protein L18A gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1345925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:28492532
1302976 Rpl18a ribosomal protein L18A gene DOID:1574 alcohol use disorder IEP D RGD:11038708|PMID:11244494 20160222 RGD mRNA:decreased expression:parietal cortex
1302976 Rpl18a ribosomal protein L18A gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:1345925 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:28492532
1302976 Rpl18a ribosomal protein L18A gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1345925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532
1302978 Ggnbp2 gametogenetin binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343556 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545
1302978 Ggnbp2 gametogenetin binding protein 2 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1343556 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545
1302978 Ggnbp2 gametogenetin binding protein 2 gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:1343556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836
1302978 Ggnbp2 gametogenetin binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1343556 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1302978 Ggnbp2 gametogenetin binding protein 2 gene DOID:5419 schizophrenia ISO RGD:1343556 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1302978 Ggnbp2 gametogenetin binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343556 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1302978 Ggnbp2 gametogenetin binding protein 2 gene DOID:9008582 Developmental Disease ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868
1302979 Habp2 hyaluronan binding protein 2 gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1350340 D RGD:7240710 20250129 OMIM
1302979 Habp2 hyaluronan binding protein 2 gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1350340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:25741868|PMID:28492532
1302979 Habp2 hyaluronan binding protein 2 gene DOID:2452 thrombophilia ISO RGD:1350340 D RGD:11554173 20200805 CTD CTD Direct Evidence: marker/mechanism
1302979 Habp2 hyaluronan binding protein 2 gene DOID:3770 pulmonary fibrosis IEP D RGD:11353855|PMID:20818495 20160725 RGD
1302979 Habp2 hyaluronan binding protein 2 gene DOID:630 genetic disease ISO RGD:1350340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
1302979 Habp2 hyaluronan binding protein 2 gene DOID:9000965 Neoplasm Metastasis treatment IMP D RGD:11353856|PMID:22715430 20160725 RGD associated with Thyroid Neoplasms
1302979 Habp2 hyaluronan binding protein 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350340 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642
1302979 Habp2 hyaluronan binding protein 2 gene DOID:9003505 Venous Thromboembolism ISO RGD:1350340 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to PMID:12138371|PMID:12578864|PMID:15486068|PMID:25741868|PMID:26222560|PMID:26581001|PMID:26581002|PMID:26581003|PMID:26581004|PMID:26581005
1302979 Habp2 hyaluronan binding protein 2 gene DOID:9003505 Venous Thromboembolism disease_progression ISO RGD:1350340 D RGD:11353820|PMID:22421107 20160722 RGD DNA:SNP: :p.G534E (rs7080536) (human)
1302979 Habp2 hyaluronan binding protein 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1350340 D RGD:11353820|PMID:22421107 20160722 RGD DNA:SNP: :p.G534E (rs7080536) (human)
1302979 Habp2 hyaluronan binding protein 2 gene DOID:9004547 Thyroid Neoplasms IMP D RGD:11353856|PMID:22715430 20160725 RGD
1302979 Habp2 hyaluronan binding protein 2 gene DOID:9005359 Hereditary Thrombophilia ISO RGD:1350340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Factor VII Marburg I Variant Thrombophilia PMID:12138371|PMID:12578864|PMID:15486068|PMID:25741868|PMID:26222560|PMID:26581001|PMID:26581002|PMID:26581003|PMID:26581004|PMID:26581005|PMID:28492532
1302979 Habp2 hyaluronan binding protein 2 gene DOID:9007597 Thyroid Cancer, Nonmedullary, 5 ISO RGD:1350340 D RGD:7240710 20250129 OMIM
1302979 Habp2 hyaluronan binding protein 2 gene DOID:9007597 Thyroid Cancer, Nonmedullary, 5 ISO RGD:1350340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: HABP2-related condition | ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 5 PMID:12138371|PMID:12578864|PMID:15486068|PMID:25741868|PMID:26222560|PMID:26581001|PMID:26581002|PMID:26581003|PMID:26581004|PMID:26581005
1302980 Xirp2 xin actin-binding repeat containing 2 gene DOID:10348 blepharophimosis ISO RGD:1347436 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:25741868
1302980 Xirp2 xin actin-binding repeat containing 2 gene DOID:1596 depressive disorder ISO RGD:1347436 D RGD:401854249|PMID:35642741 20231106 RGD DNA:SNP:CDS:multiple (human)
1302980 Xirp2 xin actin-binding repeat containing 2 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:1347436 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 PMID:25741868
1302981 Zfp57 zinc finger protein 57 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:1344217 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive PMID:18414213|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016
1302981 Zfp57 zinc finger protein 57 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:1344217 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive PMID:18414213|PMID:18622393|PMID:23748067|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016
1302981 Zfp57 zinc finger protein 57 gene DOID:11372 megacolon ISO RGD:1344217 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1302981 Zfp57 zinc finger protein 57 gene DOID:630 genetic disease ISO RGD:1344217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1302981 Zfp57 zinc finger protein 57 gene DOID:9004783 Transient Neonatal Diabetes Mellitus, 1 ISO RGD:1344217 D RGD:11554173 20240910 CTD CTD Direct Evidence: marker/mechanism
1302981 Zfp57 zinc finger protein 57 gene DOID:9004783 Transient Neonatal Diabetes Mellitus, 1 ISO RGD:1344217 D RGD:7240710 20130731 OMIM
1302981 Zfp57 zinc finger protein 57 gene DOID:9004783 Transient Neonatal Diabetes Mellitus, 1 ISO RGD:1344217 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 1 | ClinVar Annotator: match by term: ZFP57-related condition PMID:17576681|PMID:18197189|PMID:18414213|PMID:18622393|PMID:23499433|PMID:23748067|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016|PMID:9536098
1302981 Zfp57 zinc finger protein 57 gene DOID:9351 diabetes mellitus ISO RGD:1344217 D RGD:11554173 20240910 CTD CTD Direct Evidence: marker/mechanism PMID:18622393
1302981 Zfp57 zinc finger protein 57 gene DOID:9351 diabetes mellitus ISO RGD:1344217 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:23748067|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016
1302982 Pla2g15 phospholipase A2, group XV gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1344350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532
1302982 Pla2g15 phospholipase A2, group XV gene DOID:0080600 COVID-19 ISO RGD:1344350 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1302982 Pla2g15 phospholipase A2, group XV gene DOID:2349 arteriosclerosis ISO RGD:1552207 D RGD:1582126|PMID:15781238 20061101 RGD
1302982 Pla2g15 phospholipase A2, group XV gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1344350 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868
1302983 Osmr oncostatin M receptor gene DOID:0050639 primary cutaneous amyloidosis ISO RGD:1352311 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism
1302983 Osmr oncostatin M receptor gene DOID:0080600 COVID-19 ISO RGD:1352311 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672
1302983 Osmr oncostatin M receptor gene DOID:0080930 primary localized cutaneous amyloidosis 1 ISO RGD:1352311 D RGD:7240710 20190327 OMIM
1302983 Osmr oncostatin M receptor gene DOID:0080930 primary localized cutaneous amyloidosis 1 ISO RGD:1352311 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 1 | ClinVar Annotator: match by term: OSMR-related condition PMID:18179886|PMID:19690585|PMID:25741868|PMID:28492532
1302983 Osmr oncostatin M receptor gene DOID:1790 malignant mesothelioma ISO RGD:1352311 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049
1302983 Osmr oncostatin M receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352311 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15496427
1302983 Osmr oncostatin M receptor gene DOID:630 genetic disease ISO RGD:1352311 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1302983 Osmr oncostatin M receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352311 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1302984 Lmo7 LIM domain 7 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1351855 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
1302984 Lmo7 LIM domain 7 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1351855 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:25741868
1302985 Ralgdsl2 ral guanine nucleotide dissociation stimulator like 2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1302985 Ralgdsl2 ral guanine nucleotide dissociation stimulator like 2 gene DOID:0060009 MHC class I deficiency ISO RGD:1347432 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: MHC class I deficiency PMID:28492532
1302985 Ralgdsl2 ral guanine nucleotide dissociation stimulator like 2 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1347432 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532
1302986 Lcn6 lipocalin 6 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758
1302986 Lcn6 lipocalin 6 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1349815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532
1302986 Lcn6 lipocalin 6 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1349815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532
1302986 Lcn6 lipocalin 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532
1302986 Lcn6 lipocalin 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349815 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532
1302986 Lcn6 lipocalin 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349815 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532
1302986 Lcn6 lipocalin 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349815 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532
1302986 Lcn6 lipocalin 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612
1302986 Lcn6 lipocalin 6 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1349815 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532
1302986 Lcn6 lipocalin 6 gene DOID:3652 Leigh disease ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532
1302986 Lcn6 lipocalin 6 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532
1302987 Ano7 anoctamin 7 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1351029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895
1302987 Ano7 anoctamin 7 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1351029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895
1302987 Ano7 anoctamin 7 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1351029 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868
1302987 Ano7 anoctamin 7 gene DOID:1059 intellectual disability ISO RGD:1351029 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1302987 Ano7 anoctamin 7 gene DOID:9001550 Bethlem Myopathy 1A ISO RGD:1351029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:26004199|PMID:28492532
1302987 Ano7 anoctamin 7 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1351029 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:0060290 Ohdo syndrome, SBBYS variant ISO RGD:1348339 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome PMID:32694869
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348339 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1348339 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 PMID:22366787|PMID:22426308|PMID:22426309|PMID:25724810|PMID:25741868
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1348339 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:0081441 Nicolaides-Baraitser syndrome ISO RGD:1348339 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22366787
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:0081441 Nicolaides-Baraitser syndrome ISO RGD:1348339 D RGD:7240710 20141015 OMIM
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:0081441 Nicolaides-Baraitser syndrome ISO RGD:1348339 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Intellectual disability-sparse hair-brachydactyly syndrome | ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy | ClinVar Annotator: match by term: SMARCA2-related condition PMID:17576681|PMID:18414213|PMID:19606471|PMID:22366787|PMID:22426308|PMID:22822383|PMID:23752187|PMID:23929686|PMID:24090879|PMID:25169058|PMID:25326635|PMID:25326637|PMID:25741868|PMID:27099726|PMID:27399259|PMID:27479843|PMID:27665729|PMID:28333917|PMID:28424519|PMID:28492532|PMID:28512736|PMID:28824374|PMID:30459321|PMID:31785789|PMID:32694869|PMID:35887114|PMID:9536098
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:0081442 blepharophimosis-impaired intellectual development syndrome ISO RGD:1348339 D RGD:7240710 20230215 OMIM
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:0081442 blepharophimosis-impaired intellectual development syndrome ISO RGD:1348339 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Blepharophimosis-impaired intellectual development syndrome PMID:22366787|PMID:23929686|PMID:24090879|PMID:25533962|PMID:25741868|PMID:28191890|PMID:28333917|PMID:28492532|PMID:28628100|PMID:32694869
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348339 D RGD:9068941 20200609 RGD PMID:17075831|REF_RGD_ID:2302527
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:10348 blepharophimosis ISO RGD:1348339 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:25741868
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:1059 intellectual disability ISO RGD:1348339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:22366787|PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28424519|PMID:28628100|PMID:32694869
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:10907 microcephaly ISO RGD:1348339 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:1790 malignant mesothelioma ISO RGD:1348339 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1348339 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:22426308
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1348339 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability PMID:18414213|PMID:28512736
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:630 genetic disease ISO RGD:1348339 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16738128|PMID:18414213|PMID:23929686|PMID:24090879|PMID:25169058|PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28263302|PMID:28333917|PMID:28424519|PMID:28492532|PMID:28512736|PMID:31813803|PMID:32694869
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1348339 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:9001900 Arnold-Chiari Malformation ISO RGD:1348339 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Arnold-Chiari malformation
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1348339 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1348339 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348339 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:9004507 Hirsutism ISO RGD:1348339 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Hirsutism PMID:22366787|PMID:25741868
1302988 Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 gene DOID:9008582 Developmental Disease ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868
1302990 Lag3 lymphocyte activating 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532
1302990 Lag3 lymphocyte activating 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344873 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532
1302990 Lag3 lymphocyte activating 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1344873 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532
1302990 Lag3 lymphocyte activating 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344873 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1348300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1348300 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0080690 RASopathy ISO RGD:1348300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1348300 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1348300 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:5419 schizophrenia ISO RGD:1348300 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:1348300 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 PMID:28492532
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:1348300 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:9006238 Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy ISO RGD:1348300 D RGD:7240710 20200318 OMIM
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:9006238 Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy ISO RGD:1348300 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138|PMID:34878169
1302991 Trappc4 trafficking protein particle complex subunit 4 gene DOID:9007661 Dwarfism ISO RGD:1348300 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362
1302992 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1344859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1302992 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:11372 megacolon ISO RGD:1344859 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1302992 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1344859 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:29379198
1302992 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:670 amphetamine abuse ISO RGD:1344859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18316681
1302992 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344859 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21743467
1302992 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:986 alopecia areata ISS RGD:1617323 D RGD:13592920 20211104 MouseDO OMIM:104000 | OMIM:610753
1302993 Ly96 lymphocyte antigen 96 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1349135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PMID:21147908|PMID:28492532
1302993 Ly96 lymphocyte antigen 96 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1349135 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106
1302993 Ly96 lymphocyte antigen 96 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1349135 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:28492532
1302993 Ly96 lymphocyte antigen 96 gene DOID:13580 cholestasis ISO RGD:1349135 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27989131
1302993 Ly96 lymphocyte antigen 96 gene DOID:305 carcinoma ISO RGD:1349135 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22180778
1302993 Ly96 lymphocyte antigen 96 gene DOID:7148 rheumatoid arthritis ISO RGD:1349135 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17379860
1302993 Ly96 lymphocyte antigen 96 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349135 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22180778
1302993 Ly96 lymphocyte antigen 96 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349135 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1302993 Ly96 lymphocyte antigen 96 gene DOID:9003321 Bacterial Keratitis ISO RGD:1623303 D RGD:8662876|PMID:23033384 20140626 RGD associated with Serratia Infections;
1302993 Ly96 lymphocyte antigen 96 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349135 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22180778
1302994 Pa2g4 proliferation-associated 2G4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1354307 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753
1302994 Pa2g4 proliferation-associated 2G4 gene DOID:9000918 Disease Progression ISO RGD:1354307 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753
1302996 C20h6orf136 similar to human chromosome 6 open reading frame 136 gene DOID:11372 megacolon ISO RGD:1348259 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1302998 Mrps18b mitochondrial ribosomal protein S18B gene DOID:11372 megacolon ISO RGD:1349132 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1302998 Mrps18b mitochondrial ribosomal protein S18B gene DOID:9000217 Stomach Neoplasms ISO RGD:1349132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753
1302998 Mrps18b mitochondrial ribosomal protein S18B gene DOID:9000918 Disease Progression ISO RGD:1349132 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21364753
1302999 Ly6g6c lymphocyte antigen 6 family member G6C gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1344908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303000 Cdh15 cadherin 15 gene DOID:0060573 von Willebrand's disease 1 ISO RGD:1353127 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 1 PMID:25741868
1303000 Cdh15 cadherin 15 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1353127 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 PMID:25741868
1303000 Cdh15 cadherin 15 gene DOID:0070033 autosomal dominant intellectual developmental disorder 3 ISO RGD:1353127 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303000 Cdh15 cadherin 15 gene DOID:0070033 autosomal dominant intellectual developmental disorder 3 ISO RGD:1353127 D RGD:7240710 20130221 OMIM
1303000 Cdh15 cadherin 15 gene DOID:0070033 autosomal dominant intellectual developmental disorder 3 ISO RGD:1353127 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: CDH15-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 3 PMID:18414213|PMID:19012874|PMID:25741868|PMID:28492532
1303000 Cdh15 cadherin 15 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1353127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532
1303000 Cdh15 cadherin 15 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1353127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532
1303000 Cdh15 cadherin 15 gene DOID:1059 intellectual disability ISO RGD:1353127 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868
1303000 Cdh15 cadherin 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353127 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543
1303000 Cdh15 cadherin 15 gene DOID:13636 Fanconi anemia ISO RGD:1353127 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532
1303000 Cdh15 cadherin 15 gene DOID:14780 KBG syndrome ISO RGD:1353127 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:28492532|PMID:31602316|PMID:31690835
1303000 Cdh15 cadherin 15 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1353127 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
1303001 Pofut1 protein O-fucosyltransferase 1 gene DOID:0060256 Dowling-Degos disease ISO RGD:1348314 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism
1303001 Pofut1 protein O-fucosyltransferase 1 gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1348314 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532
1303001 Pofut1 protein O-fucosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1348314 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1303001 Pofut1 protein O-fucosyltransferase 1 gene DOID:9006393 Dowling-Degos Disease 2 ISO RGD:1348314 D RGD:7240710 20140911 OMIM
1303001 Pofut1 protein O-fucosyltransferase 1 gene DOID:9006393 Dowling-Degos Disease 2 ISO RGD:1348314 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Dowling-Degos disease 2 | ClinVar Annotator: match by term: POFUT1-related condition PMID:23684010|PMID:25157627|PMID:25229252|PMID:25741868|PMID:28492532|PMID:31566882
1303002 Cops3 COP9 signalosome subunit 3 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1350505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532
1303002 Cops3 COP9 signalosome subunit 3 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1350505 D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307
1303002 Cops3 COP9 signalosome subunit 3 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1350505 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532
1303002 Cops3 COP9 signalosome subunit 3 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1350505 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532
1303002 Cops3 COP9 signalosome subunit 3 gene DOID:12849 autistic disorder ISO RGD:1350505 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1303002 Cops3 COP9 signalosome subunit 3 gene DOID:9005369 Hepatomegaly ISO RGD:1350505 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177
1303003 Gatd3a glutamine amidotransferase class 1 domain containing 3A gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935
1303003 Gatd3a glutamine amidotransferase class 1 domain containing 3A gene DOID:0110266 cataract 9 multiple types ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532
1303003 Gatd3a glutamine amidotransferase class 1 domain containing 3A gene DOID:12849 autistic disorder ISO RGD:1343023 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1303003 Gatd3a glutamine amidotransferase class 1 domain containing 3A gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343023 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935
1303003 Gatd3a glutamine amidotransferase class 1 domain containing 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343023 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303003 Gatd3a glutamine amidotransferase class 1 domain containing 3A gene DOID:9263 homocystinuria ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532
1303003 Gatd3a glutamine amidotransferase class 1 domain containing 3A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343023 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532
1303004 Tacc2 transforming, acidic coiled-coil containing protein 2 gene DOID:2340 craniosynostosis ISO RGD:1349981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721
1303004 Tacc2 transforming, acidic coiled-coil containing protein 2 gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:1349981 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase PMID:20547083|PMID:26284228|PMID:28492532
1303005 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350452 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935|PMID:34172529
1303005 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935
1303005 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1350452 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:34172529
1303005 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1350452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532
1303005 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350452 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935|PMID:34172529
1303005 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1350452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532
1303005 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:543 dystonia ISO RGD:1350452 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:28492532
1303006 Pfdn6 prefoldin subunit 6 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1351314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303006 Pfdn6 prefoldin subunit 6 gene DOID:0060009 MHC class I deficiency ISO RGD:1351314 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: MHC class I deficiency PMID:28492532
1303006 Pfdn6 prefoldin subunit 6 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1351314 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532
1303007 Rpl35 ribosomal protein L35 gene DOID:0111886 Diamond-Blackfan anemia 19 ISO RGD:1353068 D RGD:7240710 20190315 OMIM
1303007 Rpl35 ribosomal protein L35 gene DOID:0111886 Diamond-Blackfan anemia 19 ISO RGD:1353068 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 | ClinVar Annotator: match by term: RPL35-related condition PMID:28280134|PMID:28492532
1303008 Msh5 mutS homolog 5 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1343663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303008 Msh5 mutS homolog 5 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1343663 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:34755185
1303008 Msh5 mutS homolog 5 gene DOID:0070573 spermatogenic failure 74 ISO RGD:1343663 D RGD:7240710 20220720 OMIM
1303008 Msh5 mutS homolog 5 gene DOID:0070573 spermatogenic failure 74 ISO RGD:1343663 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 74 PMID:25741868|PMID:34755185
1303008 Msh5 mutS homolog 5 gene DOID:0080870 primary ovarian insufficiency 13 ISO RGD:1343663 D RGD:7240710 20190315 OMIM
1303008 Msh5 mutS homolog 5 gene DOID:0080870 primary ovarian insufficiency 13 ISO RGD:1343663 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: MSH5-related condition | ClinVar Annotator: match by term: Premature ovarian failure 13 PMID:24033266|PMID:25741868|PMID:28175301|PMID:28492532
1303008 Msh5 mutS homolog 5 gene DOID:0080870 primary ovarian insufficiency 13 ISS RGD:1552336 D RGD:13592920 20230718 MouseDO OMIM:617442
1303008 Msh5 mutS homolog 5 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1343663 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868
1303008 Msh5 mutS homolog 5 gene DOID:14227 azoospermia ISO RGD:1343663 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia
1303008 Msh5 mutS homolog 5 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1343663 D RGD:126848786|PMID:28093084 20210430 RGD DNA:SNPs: :rs805304, rs707939 (human)
1303008 Msh5 mutS homolog 5 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343663 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
1303008 Msh5 mutS homolog 5 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343663 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868
1303008 Msh5 mutS homolog 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1343663 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560
1303009 Slc4a5 solute carrier family 4 member 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:731047 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532
1303009 Slc4a5 solute carrier family 4 member 5 gene DOID:543 dystonia ISO RGD:731047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498
1303009 Slc4a5 solute carrier family 4 member 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:731047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498
1303014 Gpsm3 G-protein signaling modulator 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1343729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303015 Commd10 COMM domain containing 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1303015 Commd10 COMM domain containing 10 gene DOID:12849 autistic disorder ISO RGD:1346630 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1303015 Commd10 COMM domain containing 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346630 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303015 Commd10 COMM domain containing 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1347363 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868|PMID:33654309
1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:1347363 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 PMID:17576681|PMID:28492532|PMID:32979048|PMID:9536098
1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:11782 astigmatism ISO RGD:1347363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868|PMID:33654309
1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1347363 D RGD:2317697|PMID:15548371 20100416 RGD mRNA, protein:increased expression:pancreatic duct
1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347363 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma IEP D RGD:15042853|PMID:27298561 20191217 RGD associated with hepatitis B;miRNA:increased expression:liver (human)
1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma susceptibility IAGP D RGD:15042885|PMID:24416400 20191216 RGD associated with hepatitis B;DNA:SNP:promoter: (rs999885) (human)
1303018 Mcm7 minichromosome maintenance complex component 7 gene DOID:7998 hyperthyroidism IEP D RGD:2317698|PMID:17394799 20100416 RGD
1303019 Rpl17 ribosomal protein L17 gene DOID:1059 intellectual disability ISO RGD:1347180 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability
1303019 Rpl17 ribosomal protein L17 gene DOID:12849 autistic disorder ISO RGD:1347180 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868
1303019 Rpl17 ribosomal protein L17 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1347180 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:39088281
1303019 Rpl17 ribosomal protein L17 gene DOID:9007102 Myocardial Ischemia ISO RGD:1347180 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16214533
1303020 Rnase6 ribonuclease A family member 6 gene DOID:3602 toxic encephalopathy ISO RGD:1353772 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758
1303020 Rnase6 ribonuclease A family member 6 gene DOID:409 liver disease ISO RGD:1353772 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19784758
1303020 Rnase6 ribonuclease A family member 6 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1353772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532
1303020 Rnase6 ribonuclease A family member 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353772 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868
1303022 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:10652 Alzheimer's disease ISO RGD:1343121 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:27023435|PMID:29107063|PMID:30319691|PMID:30320580
1303022 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:3526 cerebral infarction ISO RGD:1343121 D RGD:13464126|PMID:26171154 20171221 RGD DNA:SNP: :rs2075650 (human)
1303022 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:3910 lung adenocarcinoma ISO RGD:1343121 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:27602772
1303022 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:9003370 Dyslipidemias ISO RGD:1343121 D RGD:11554173 20190507 CTD CTD Direct Evidence: marker/mechanism PMID:29670124
1303022 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:13463486|PMID:23255365 20171219 RGD protein:decreased expression:retina
1303022 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:9006205 Animal Disease Models ISO RGD:1343121 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27602772
1303023 Nudt2 nudix hydrolase 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532
1303023 Nudt2 nudix hydrolase 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1352613 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532
1303023 Nudt2 nudix hydrolase 2 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1352613 D RGD:8554872 20240625 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:33058507
1303023 Nudt2 nudix hydrolase 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532
1303023 Nudt2 nudix hydrolase 2 gene DOID:1059 intellectual disability ISO RGD:1352613 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:33058507
1303023 Nudt2 nudix hydrolase 2 gene DOID:607 paraplegia ISO RGD:1352613 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:23332916|PMID:23332917|PMID:28492532
1303023 Nudt2 nudix hydrolase 2 gene DOID:9000579 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY ISO RGD:1352613 D RGD:7240710 20220629 OMIM
1303023 Nudt2 nudix hydrolase 2 gene DOID:9000579 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY ISO RGD:1352613 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with or without peripheral neuropathy PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:33058507
1303023 Nudt2 nudix hydrolase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1352613 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20533549
1303023 Nudt2 nudix hydrolase 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352613 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532
1303023 Nudt2 nudix hydrolase 2 gene DOID:9870 galactosemia ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532
1303024 Krt83 keratin 83 gene DOID:0050472 monilethrix ISO RGD:1318342 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303024 Krt83 keratin 83 gene DOID:0050472 monilethrix ISO RGD:1318342 D RGD:7240710 20221026 OMIM
1303024 Krt83 keratin 83 gene DOID:0050472 monilethrix ISO RGD:1318342 D RGD:8554872 20221025 ClinVar ClinVar Annotator: match by term: Nodose hair PMID:15744029|PMID:25557232|PMID:25741868|PMID:28492532
1303024 Krt83 keratin 83 gene DOID:0080251 erythrokeratodermia variabilis et progressiva 5 ISO RGD:1318342 D RGD:7240710 20221026 OMIM
1303024 Krt83 keratin 83 gene DOID:0080251 erythrokeratodermia variabilis et progressiva 5 ISO RGD:1318342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 5 | ClinVar Annotator: match by term: KRT83-related condition PMID:25741868|PMID:27965375|PMID:28492532
1303025 Prrc2a proline-rich coiled-coil 2A gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1350670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303025 Prrc2a proline-rich coiled-coil 2A gene DOID:11372 megacolon ISO RGD:1350670 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303025 Prrc2a proline-rich coiled-coil 2A gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:1350670 D RGD:14390152|PMID:25111513 20190221 RGD DNA:haplotype: :rs11538264(human)
1303025 Prrc2a proline-rich coiled-coil 2A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350670 D RGD:2306963|PMID:15842729 20090513 RGD DNA:polymorphism
1303025 Prrc2a proline-rich coiled-coil 2A gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1350670 D RGD:2306964|PMID:10987645 20090513 RGD DNA:polymorphism
1303028 Chst7 carbohydrate sulfotransferase 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344494 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
1303028 Chst7 carbohydrate sulfotransferase 7 gene DOID:12849 autistic disorder ISO RGD:1344494 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1303028 Chst7 carbohydrate sulfotransferase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344494 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303028 Chst7 carbohydrate sulfotransferase 7 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1344494 D RGD:8554872 20150707 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376
1303030 Tlr6 toll-like receptor 6 gene DOID:0060000 infective endocarditis susceptibility ISO RGD:1344850 D RGD:127229900|PMID:25213166 20210602 RGD DNA:SNP:cds:rs3775073(1263A>G)(p.Lys421Lys)(human)
1303030 Tlr6 toll-like receptor 6 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1344850 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
1303030 Tlr6 toll-like receptor 6 gene DOID:1024 leprosy ISO RGD:1344850 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
1303030 Tlr6 toll-like receptor 6 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1552386 D RGD:4889534|PMID:19019963 20101203 RGD
1303030 Tlr6 toll-like receptor 6 gene DOID:13564 aspergillosis susceptibility ISO RGD:1344850 D RGD:4889535|PMID:16461792 20101203 RGD DNA:SNP: :p.S249P (human)
1303030 Tlr6 toll-like receptor 6 gene DOID:1574 alcohol use disorder ISO RGD:1344850 D RGD:597538499|PMID:34415075 20250124 RGD mRNA:increased expression:orbitofrontal cortex
1303030 Tlr6 toll-like receptor 6 gene DOID:2841 asthma susceptibility ISO RGD:1344850 D RGD:4889528|PMID:18547625 20101203 RGD DNA:SNP (human)
1303030 Tlr6 toll-like receptor 6 gene DOID:2841 asthma susceptibility ISO RGD:1344850 D RGD:4889538|PMID:15266299 20101203 RGD DNA:SNP: :p.S249P (human)
1303030 Tlr6 toll-like receptor 6 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1552386 D RGD:7246909|PMID:18256364 20130621 RGD mRNA:increased expression:renal glomerulus (mouse)
1303030 Tlr6 toll-like receptor 6 gene DOID:399 tuberculosis susceptibility ISO RGD:1320607 D RGD:7246918|PMID:18091991 20130624 RGD DNA:missense mutations:cds:multiple (human)
1303030 Tlr6 toll-like receptor 6 gene DOID:4483 rhinitis ISO RGD:1344850 D RGD:4145352|PMID:20815312 20101203 RGD associated with Asthma;DNA:SNP: :rs2381289 (human)
1303030 Tlr6 toll-like receptor 6 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1552386 D RGD:4889532|PMID:20070409 20101203 RGD
1303030 Tlr6 toll-like receptor 6 gene DOID:8677 perinatal necrotizing enterocolitis IEP D RGD:5128779|PMID:19608731 20101203 RGD mRNA:increased expression:ileum
1303030 Tlr6 toll-like receptor 6 gene DOID:874 bacterial pneumonia IDA D RGD:4889533|PMID:19844782 20101203 RGD
1303030 Tlr6 toll-like receptor 6 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1344850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532
1303030 Tlr6 toll-like receptor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344850 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16537705
1303030 Tlr6 toll-like receptor 6 gene DOID:9004484 Sepsis ISO RGD:1344850 D RGD:155900762|PMID:31002148 20230215 RGD mRNA:increased expression:plasma
1303030 Tlr6 toll-like receptor 6 gene DOID:9005372 Inflammation IDA D RGD:4889539|PMID:16154916 20101203 RGD
1303030 Tlr6 toll-like receptor 6 gene DOID:9005372 Inflammation ISO RGD:1552386 D RGD:4889537|PMID:20016195 20101203 RGD associated with Respiratory Hypersensitivity
1303031 Crat carnitine O-acetyltransferase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350289 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532
1303031 Crat carnitine O-acetyltransferase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532
1303031 Crat carnitine O-acetyltransferase gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1350289 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:25741868|PMID:28492532|PMID:29395073|PMID:34085946
1303031 Crat carnitine O-acetyltransferase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350289 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532
1303031 Crat carnitine O-acetyltransferase gene DOID:543 dystonia ISO RGD:1350289 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:28492532
1303031 Crat carnitine O-acetyltransferase gene DOID:9008371 Carnitine Acetyltransferase Deficiency ISO RGD:1350289 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY PMID:28492532|PMID:31448845
1303031 Crat carnitine O-acetyltransferase gene DOID:9009153 Neurodegeneration with Brain Iron Accumulation 8 ISO RGD:1350289 D RGD:7240710 20190315 OMIM
1303031 Crat carnitine O-acetyltransferase gene DOID:9009153 Neurodegeneration with Brain Iron Accumulation 8 ISO RGD:1350289 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: CRAT-related condition | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 8 PMID:25741868|PMID:28492532|PMID:29395073|PMID:31448845|PMID:34085946
1303035 Kif5a kinesin family member 5A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347916 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:20386726|PMID:25008398|PMID:25741868|PMID:29892902
1303035 Kif5a kinesin family member 5A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1550437 D RGD:12798528|PMID:23006449 20170324 RGD mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse)
1303035 Kif5a kinesin family member 5A gene DOID:0081379 amyotrophic lateral sclerosis type 25 ISO RGD:1347916 D RGD:7240710 20250115 OMIM
1303035 Kif5a kinesin family member 5A gene DOID:0081379 amyotrophic lateral sclerosis type 25 ISO RGD:1347916 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis PMID:17576681|PMID:25741868|PMID:28492532|PMID:29342275|PMID:29566793|PMID:29954873|PMID:32815063|PMID:9536098
1303035 Kif5a kinesin family member 5A gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 PMID:25741868|PMID:28492532|PMID:32579787
1303035 Kif5a kinesin family member 5A gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1347916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532
1303035 Kif5a kinesin family member 5A gene DOID:0110251 cataract 15 multiple types ISO RGD:1347916 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Cataract 15 multiple types PMID:28492532
1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:12793061|PMID:18245137 20170320 RGD DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human)
1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:12793065|PMID:12355402 20170320 RGD DNA:missense mutation:cds:p.N256S (human)
1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:12793068|PMID:25352184 20170320 RGD DNA:missense mutation:cds:p.R162W (human)
1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:12793069|PMID:26374131 20170320 RGD DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human)
1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:12859090|PMID:24939576 20170412 RGD DNA:missense mutation:cds:p.L259Q (human)
1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:12859091|PMID:15452312 20170412 RGD DNA:missense mutation:cds:p.R280C (human)
1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:7240710 20250115 OMIM
1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:12355402|PMID:15452312|PMID:16476820|PMID:16489470|PMID:17576681|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:22552817|PMID:22714410|PMID:24123792|PMID:24731568|PMID:25008398|PMID:25352184|PMID:25695920|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26543653|PMID:27084214|PMID:27463701|PMID:28362824|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29566793|PMID:29892902|PMID:29908077|PMID:30057544|PMID:30581417|PMID:30778698|PMID:31108397|PMID:31211173|PMID:31403080|PMID:31422367|PMID:31475037|PMID:33059505|PMID:33155544|PMID:33208543|PMID:33310205|PMID:34715294|PMID:34983064|PMID:35303589|PMID:35578252|PMID:35896380|PMID:37524782|PMID:37926714|PMID:9536098
1303035 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1550437 D RGD:12793060|PMID:22466687 20170320 RGD
1303035 Kif5a kinesin family member 5A gene DOID:10283 prostate cancer ISO RGD:1347916 D RGD:11062257|PMID:23265383 20170320 RGD DNA:mutations:multiple (human)
1303035 Kif5a kinesin family member 5A gene DOID:10283 prostate cancer ISO RGD:1347916 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532
1303035 Kif5a kinesin family member 5A gene DOID:12859 choreatic disease ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:25741868|PMID:28492532
1303035 Kif5a kinesin family member 5A gene DOID:1826 epilepsy ISO RGD:1550437 D RGD:12859092|PMID:23217743 20170412 RGD
1303035 Kif5a kinesin family member 5A gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1347916 D RGD:12793067|PMID:20508602 20170320 RGD DNA:snp:intron:c.1717-152C>G (rs1678542) (human)
1303035 Kif5a kinesin family member 5A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:15452312|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:25008398|PMID:25695920|PMID:25741868|PMID:26467025|PMID:26543653|PMID:28492532|PMID:28708278|PMID:28832565|PMID:29892902|PMID:31211173|PMID:31403080|PMID:31475037
1303035 Kif5a kinesin family member 5A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347916 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:15452312|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:25008398|PMID:25695920|PMID:25741868|PMID:26467025|PMID:26543653|PMID:27463701|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29892902|PMID:30057544|PMID:31108397|PMID:31211173|PMID:31403080|PMID:31475037|PMID:33059505|PMID:33310205|PMID:34715294|PMID:34983064|PMID:35303589|PMID:35578252|PMID:37524782|PMID:37926714
1303035 Kif5a kinesin family member 5A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347916 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:25741868|PMID:26467025|PMID:28492532|PMID:31108397
1303035 Kif5a kinesin family member 5A gene DOID:5214 demyelinating polyneuropathy ISO RGD:1347916 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Demyelinating peripheral neuropathy PMID:15452312|PMID:18853458|PMID:25008398|PMID:25695920|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29892902|PMID:34715294|PMID:34983064|PMID:35303589
1303035 Kif5a kinesin family member 5A gene DOID:5419 schizophrenia ISO RGD:1347916 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia
1303035 Kif5a kinesin family member 5A gene DOID:574 peripheral nervous system disease ISO RGD:1347916 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18853458|PMID:21623771|PMID:25008398|PMID:25741868
1303035 Kif5a kinesin family member 5A gene DOID:607 paraplegia ISO RGD:1347916 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15452312|PMID:16199547|PMID:16476820|PMID:16489470|PMID:17576681|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:22552817|PMID:22714410|PMID:23265383|PMID:24123792|PMID:24731568|PMID:25008398|PMID:25352184|PMID:25640679|PMID:25695920|PMID:25741868|PMID:26374131|PMID:26403765|PMID:26467025|PMID:26543653|PMID:27084214|PMID:27414745|PMID:27463701|PMID:28362824|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29342275|PMID:29566793|PMID:29892902|PMID:29908077|PMID:29954873|PMID:30057544|PMID:30581417|PMID:30778698|PMID:31108397|PMID:31211173|PMID:31403080|PMID:31422367|PMID:31475037|PMID:31612903|PMID:32501971|PMID:32579787|PMID:32815063|PMID:32888732|PMID:33059505|PMID:33155544|PMID:33208543|PMID:33310205|PMID:33589474|PMID:33829936|PMID:34715294|PMID:34983064|PMID:35303589|PMID:35578252|PMID:35896380|PMID:36139378|PMID:37524782|PMID:37926714|PMID:9536098
1303035 Kif5a kinesin family member 5A gene DOID:630 genetic disease ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532
1303035 Kif5a kinesin family member 5A gene DOID:6846 familial melanoma ISO RGD:1347916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532
1303035 Kif5a kinesin family member 5A gene DOID:7148 rheumatoid arthritis ISO RGD:1347916 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23143596
1303035 Kif5a kinesin family member 5A gene DOID:7148 rheumatoid arthritis ISO RGD:1347916 D RGD:12793073|PMID:21784728 20170321 RGD DNA:snps:intron, 3' utr:c.2756-43A>C, c.*776C>T (rs775246, rs775251) (human)
1303035 Kif5a kinesin family member 5A gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1347916 D RGD:12793072|PMID:23378462 20170321 RGD DNA:snp:intron:c.1717-152C>G (rs1678542) (human)
1303035 Kif5a kinesin family member 5A gene DOID:7596 asbestos-related lung carcinoma susceptibility ISO RGD:1347916 D RGD:12793066|PMID:21231887 20170320 RGD protein:increased expression:serum (human)
1303035 Kif5a kinesin family member 5A gene DOID:870 neuropathy ISO RGD:1347916 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18853458|PMID:21623771|PMID:25008398|PMID:25741868
1303035 Kif5a kinesin family member 5A gene DOID:9001196 Nervous System Heredodegenerative Disorders ISO RGD:1347916 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Inherited neurodegenerative disorder PMID:25741868
1303035 Kif5a kinesin family member 5A gene DOID:9001890 Auditory Neuropathy ISO RGD:1347916 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy
1303035 Kif5a kinesin family member 5A gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1347916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532
1303035 Kif5a kinesin family member 5A gene DOID:9006777 Neonatal Intractable Myoclonus ISO RGD:1347916 D RGD:7240710 20250115 OMIM
1303035 Kif5a kinesin family member 5A gene DOID:9006777 Neonatal Intractable Myoclonus ISO RGD:1347916 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal PMID:18500496|PMID:18853458|PMID:21623771|PMID:22552817|PMID:22714410|PMID:24123792|PMID:24215330|PMID:24731568|PMID:25008398|PMID:25741868|PMID:26374131|PMID:26543653|PMID:27414745|PMID:27463701|PMID:28362824|PMID:28492532|PMID:28678816
1303037 Tmem106b transmembrane protein 106B gene DOID:0070405 hypomyelinating leukodystrophy 16 ISO RGD:1603394 D RGD:7240710 20190315 OMIM
1303037 Tmem106b transmembrane protein 106B gene DOID:0070405 hypomyelinating leukodystrophy 16 ISO RGD:1603394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16 | ClinVar Annotator: match by term: TMEM106B-related condition PMID:10338095|PMID:10737981|PMID:16941474|PMID:17309651|PMID:25741868|PMID:28492532|PMID:29186371|PMID:29194508|PMID:29444210|PMID:32572497|PMID:32595021
1303037 Tmem106b transmembrane protein 106B gene DOID:0080600 COVID-19 ISO RGD:1603394 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:33686287
1303037 Tmem106b transmembrane protein 106B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603394 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1303037 Tmem106b transmembrane protein 106B gene DOID:630 genetic disease ISO RGD:1603394 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1303037 Tmem106b transmembrane protein 106B gene DOID:8725 vascular dementia ISO RGD:1603394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848
1303037 Tmem106b transmembrane protein 106B gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1603394 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20154673
1303038 G4 G4 protein gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1354435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303038 G4 G4 protein gene DOID:11372 megacolon ISO RGD:1354435 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303039 Ece2 endothelin-converting enzyme 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1349338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532
1303039 Ece2 endothelin-converting enzyme 2 gene DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1349338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532
1303039 Ece2 endothelin-converting enzyme 2 gene DOID:0111546 Currarino syndrome ISO RGD:1349338 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1348620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15322546|PMID:16155189|PMID:16453322|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28118669|PMID:28442542|PMID:28492532|PMID:29186038
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1348620 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15322546|PMID:16155189|PMID:16453322|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28118669|PMID:28442542|PMID:28492532|PMID:29186038|PMID:36819107
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0050777 Joubert syndrome ISO RGD:1348620 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17377524|PMID:17409309|PMID:17576681|PMID:21068128|PMID:21623382|PMID:22693042|PMID:24690944|PMID:25356976|PMID:25741868|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26541515|PMID:26729329|PMID:27434533|PMID:28041643|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29146704|PMID:29186038|PMID:29343940|PMID:31456290|PMID:31624253|PMID:31964843|PMID:32483926|PMID:34627237|PMID:35087072|PMID:9536098
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1348620 D RGD:11554173 20161115 CTD CTD Direct Evidence: marker/mechanism PMID:27723758
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1348620 D RGD:11537389|PMID:18782849 20161003 RGD DNA:SNPs, haplotype
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0081438 Peroxisome biogenesis disorder 9B ISO RGD:1348620 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:12325024|PMID:12522768|PMID:20301447|PMID:28492532
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26729329|PMID:26759440|PMID:28041643|PMID:28118669|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:31319225|PMID:32865313|PMID:34906502|PMID:9536098
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348620 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:20301500|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:29343940|PMID:30055837|PMID:30755392|PMID:31319225|PMID:32335874|PMID:32865313|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906502|PMID:9536098
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348620 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25445212|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25741913|PMID:25741916|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:29343940|PMID:30055837|PMID:30755392|PMID:31054281|PMID:31069529|PMID:31319225|PMID:31624253|PMID:32165824|PMID:32335874|PMID:32865313|PMID:33879512|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906502|PMID:36819107|PMID:9536098
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348620 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21228398|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:22995991|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25445212|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28391287|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:28976722|PMID:29186038|PMID:29343940|PMID:30055837|PMID:30755392|PMID:31054281|PMID:31069529|PMID:31319225|PMID:31456290|PMID:31589614|PMID:31624253|PMID:31938409|PMID:3196484|PMID:31964843|PMID:32165824|PMID:32335874|PMID:32483926|PMID:32865313|PMID:33879512|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906502|PMID:35087072|PMID:36819107|PMID:9536098
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:11343130|PMID:26541515 20161003 RGD DNA:nonsense mutation:cds:c.910dup (human)
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:11537346|PMID:18054307 20160930 RGD DNA:missense mutation, nonsense mutations:exon:multiple
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:11537387|PMID:16453322 20161003 RGD DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:11537388|PMID:15322546 20161003 RGD DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human)
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:11537395|PMID:18268248 20161004 RGD DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human)
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:1304518|PMID:15467982 20160930 RGD DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human)
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:1598905|PMID:16155189 20061220 RGD DNA:missense mutation, nonsense mutations:exon:multiple
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:7240710 20130221 OMIM
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: AHI1-related condition | ClinVar Annotator: match by term: Joubert syndrome 3 PMID:15322546|PMID:16155189|PMID:16199547|PMID:16240161|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21228398|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:22995991|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25445212|PMID:25525159|PMID:25558065|PMID:25616960|PMID:25741868|PMID:25741869|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26759440|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28391287|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28976722|PMID:29146704|PMID:29186038|PMID:29343940|PMID:30055837|PMID:31130284|PMID:31456290|PMID:31589614|PMID:31624253|PMID:31938409|PMID:3196484|PMID:31964843|PMID:32165824|PMID:32483926|PMID:32865313|PMID:33879512|PMID:34191236|PMID:34906502|PMID:9536098
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1552406 D RGD:11537390|PMID:21623382 20161003 RGD
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISS RGD:1552406 D RGD:13592920 20230718 MouseDO OMIM:608629
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1348620 D RGD:7246903|PMID:17409309 20160930 RGD DNA:missense mutation:cds:p.R830W (c.2488C>T) (human)
1303040 Ahi1 Abelson helper integration site 1 gene DOID:0111589 COACH syndrome ISO RGD:1348620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Joubert syndrome with ocular defect PMID:15322546|PMID:16453322|PMID:18054307|PMID:21623382|PMID:21937992|PMID:25525159|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038
1303040 Ahi1 Abelson helper integration site 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1348620 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15322546|PMID:16453322|PMID:21866095|PMID:24033266|PMID:25445212|PMID:25741868|PMID:26092869|PMID:28041643|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038|PMID:32165824|PMID:34191236
1303040 Ahi1 Abelson helper integration site 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1348620 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15322546|PMID:16453322|PMID:21866095|PMID:24033266|PMID:25445212|PMID:25741868|PMID:26092869|PMID:28041643|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038|PMID:31456290|PMID:32165824|PMID:34191236
1303040 Ahi1 Abelson helper integration site 1 gene DOID:1059 intellectual disability ISO RGD:1348620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992
1303040 Ahi1 Abelson helper integration site 1 gene DOID:1059 intellectual disability ISO RGD:1348620 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16453322|PMID:25741868|PMID:28492532|PMID:32483926
1303040 Ahi1 Abelson helper integration site 1 gene DOID:12712 nephronophthisis ISO RGD:1348620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15322546|PMID:16155189|PMID:16453322|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038
1303040 Ahi1 Abelson helper integration site 1 gene DOID:12712 nephronophthisis ISS RGD:1552406 D RGD:13592920 20180518 MouseDO
1303040 Ahi1 Abelson helper integration site 1 gene DOID:12849 autistic disorder ISO RGD:1348620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18782849
1303040 Ahi1 Abelson helper integration site 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1348620 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:15322546|PMID:16453322|PMID:25445212|PMID:25741868|PMID:26092869|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038|PMID:32165824
1303040 Ahi1 Abelson helper integration site 1 gene DOID:2786 cerebellar disease ISO RGD:1348620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20371615
1303040 Ahi1 Abelson helper integration site 1 gene DOID:5419 schizophrenia ISO RGD:1348620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20371615
1303040 Ahi1 Abelson helper integration site 1 gene DOID:5723 optic atrophy ISO RGD:1348620 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:18054307|PMID:21228398|PMID:22995991|PMID:25326637|PMID:25356976|PMID:25741868|PMID:26035799|PMID:26035800|PMID:28391287|PMID:28492532|PMID:28976722|PMID:31938409
1303040 Ahi1 Abelson helper integration site 1 gene DOID:630 genetic disease ISO RGD:1348620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15322546|PMID:16453322|PMID:17409309|PMID:17576681|PMID:21068128|PMID:22693042|PMID:25741868|PMID:28442542|PMID:28492532|PMID:29186038|PMID:9536098
1303040 Ahi1 Abelson helper integration site 1 gene DOID:8466 retinal degeneration ISO RGD:1348620 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20081859
1303040 Ahi1 Abelson helper integration site 1 gene DOID:8501 fundus dystrophy ISO RGD:1348620 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17377524|PMID:18054307|PMID:21068128|PMID:21937992|PMID:24033266|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:26541515|PMID:28041643|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038|PMID:30055837|PMID:30755392|PMID:31456290|PMID:31589614|PMID:3196484|PMID:31964843|PMID:32483926|PMID:32865313|PMID:34191236|PMID:36819107
1303040 Ahi1 Abelson helper integration site 1 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1348620 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868
1303040 Ahi1 Abelson helper integration site 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1348620 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15322546|PMID:23532844|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30755392
1303040 Ahi1 Abelson helper integration site 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1348620 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643
1303040 Ahi1 Abelson helper integration site 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348620 D RGD:11537398|PMID:20045148 20161004 RGD mRNA:increased expression:vastus lateralis
1303040 Ahi1 Abelson helper integration site 1 gene DOID:9970 obesity ISO RGD:1348620 D RGD:11537398|PMID:20045148 20161004 RGD mRNA:increased expression:vastus lateralis
1303041 Pclaf PCNA clamp associated factor gene DOID:0110935 nemaline myopathy 6 ISO RGD:1353661 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055
1303041 Pclaf PCNA clamp associated factor gene DOID:2717 Bloom syndrome ISO RGD:1353661 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
1303041 Pclaf PCNA clamp associated factor gene DOID:684 hepatocellular carcinoma ISO RGD:1353661 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:28284560
1303041 Pclaf PCNA clamp associated factor gene DOID:9256 colorectal cancer ISO RGD:1353661 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
1303043 Clic1 chloride intracellular channel 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303043 Clic1 chloride intracellular channel 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353337 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111
1303043 Clic1 chloride intracellular channel 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739
1303043 Clic1 chloride intracellular channel 1 gene DOID:8398 osteoarthritis ISO RGD:1353337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18784066
1303043 Clic1 chloride intracellular channel 1 gene DOID:9000058 Keloid ISO RGD:1353337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793
1303043 Clic1 chloride intracellular channel 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527
1303043 Clic1 chloride intracellular channel 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1303043 Clic1 chloride intracellular channel 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353337 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20562527
1303044 Krt15 keratin 15 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1342638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588
1303044 Krt15 keratin 15 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1342638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588
1303044 Krt15 keratin 15 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1342638 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22011395
1303046 Mtif2 mitochondrial translational initiation factor 2 gene DOID:630 genetic disease ISO RGD:1347555 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
1303047 Fscn3 fascin actin-bundling protein 3 gene DOID:10892 hypospadias ISO RGD:1353847 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868
1303047 Fscn3 fascin actin-bundling protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353847 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1303048 Slco4c1 solute carrier organic anion transporter family, member 4C1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1303048 Slco4c1 solute carrier organic anion transporter family, member 4C1 gene DOID:1074 kidney failure IEP D RGD:1303977|PMID:14993604 20171110 RGD mRNA:decreased expression:kidney
1303048 Slco4c1 solute carrier organic anion transporter family, member 4C1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354473 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303048 Slco4c1 solute carrier organic anion transporter family, member 4C1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1303049 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:1459 hypothyroidism IEP D RGD:11522362|PMID:10582581 20171222 RGD mRNA:increased expression:striatum
1303049 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:6000 congestive heart failure IDA D RGD:13464132|PMID:24395194 20171222 RGD protein:increased serine phosphorylation:heart, mitochondrion
1303049 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:6000 congestive heart failure ISO RGD:1343038 D RGD:13464131|PMID:25022898 20171222 RGD mRNA:decreased expression:heart
1303049 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:630 genetic disease ISO RGD:1343038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
1303049 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:9003936 Cardiomegaly IEP D RGD:13464131|PMID:25022898 20171222 RGD protein:decreased expression:left ventricle myocardium
1303049 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:9003936 Cardiomegaly ISO RGD:1551718 D RGD:13464131|PMID:25022898 20171222 RGD protein:decreased expression:heart
1303049 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:13463486|PMID:23255365 20171219 RGD protein:decreased expression:retina
1303050 Zbtb9 zinc finger and BTB domain containing 9 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1354226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303050 Zbtb9 zinc finger and BTB domain containing 9 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1354226 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:20683986|PMID:23161826|PMID:23687080|PMID:23708187|PMID:26079862|PMID:26989088|PMID:28492532
1303051 Gnl1 G protein nucleolar 1 gene DOID:11372 megacolon ISO RGD:1352530 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347156 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532
1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532
1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532
1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532
1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131
1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:12849 autistic disorder ISO RGD:1347156 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347156 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303052 Usp11 ubiquitin specific peptidase 11 gene DOID:9563 bronchiectasis ISO RGD:1347156 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Bronchiectasis
1303053 Fuca2 alpha-L-fucosidase 2 gene DOID:0080600 COVID-19 ISO RGD:1344103 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1303053 Fuca2 alpha-L-fucosidase 2 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1344103 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532
1303053 Fuca2 alpha-L-fucosidase 2 gene DOID:9002189 High Myopia ISO RGD:1344103 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia
1303054 Prss58 serine protease 58 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1606966 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868
1303055 Ubl7 ubiquitin-like 7 gene DOID:0080519 PAPA syndrome ISO RGD:1602843 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial recurrent arthritis PMID:28492532
1303055 Ubl7 ubiquitin-like 7 gene DOID:0110225 Brugada syndrome 8 ISO RGD:1602843 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532
1303055 Ubl7 ubiquitin-like 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532
1303055 Ubl7 ubiquitin-like 7 gene DOID:2717 Bloom syndrome ISO RGD:1602843 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
1303055 Ubl7 ubiquitin-like 7 gene DOID:5419 schizophrenia ISO RGD:1602843 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1303055 Ubl7 ubiquitin-like 7 gene DOID:9256 colorectal cancer ISO RGD:1602843 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
1303057 Tmem178a transmembrane protein 178A gene DOID:3883 Lynch syndrome ISO RGD:1602302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532
1303057 Tmem178a transmembrane protein 178A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1332223 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1303057 Tmem178a transmembrane protein 178A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602302 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303058 Chia chitinase, acidic gene DOID:0050127 sinusitis severity ISO RGD:1604020 D RGD:5037227|PMID:19379605 20110303 RGD mRNA:decreased expression:sinus, epithelial cell (human)
1303058 Chia chitinase, acidic gene DOID:10325 silicosis IEP D RGD:4893904|PMID:18685790 20110301 RGD mRNA:increased expression:lung (rat)
1303058 Chia chitinase, acidic gene DOID:12053 cryptococcosis IEP D RGD:4990459|PMID:18482441 20110301 RGD protein:increased expression:lung (rat)
1303058 Chia chitinase, acidic gene DOID:12849 autistic disorder ISO RGD:1604020 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1303058 Chia chitinase, acidic gene DOID:2841 asthma ISO RGD:1604020 D RGD:4985150|PMID:15192232 20110301 RGD mRNA:increased expression:lung, epithelial cell (human)
1303058 Chia chitinase, acidic gene DOID:2841 asthma ISO RGD:1604020 D RGD:4996473|PMID:16179638 20110301 RGD DNA:snps:5' utr, cds:multiple (human)
1303058 Chia chitinase, acidic gene DOID:2841 asthma ISO RGD:1615785 D RGD:4990463|PMID:14734765 20110301 RGD mRNA:increased expression:lung (mouse)
1303058 Chia chitinase, acidic gene DOID:2841 asthma ISO RGD:1615785 D RGD:5024921|PMID:19548841 20110302 RGD
1303058 Chia chitinase, acidic gene DOID:2841 asthma no_association ISO RGD:1604020 D RGD:5024922|PMID:20226308 20110302 RGD DNA:snps:multiple (human)
1303058 Chia chitinase, acidic gene DOID:9001472 Nasal Polyps ISO RGD:1604020 D RGD:5024927|PMID:16871939 20110302 RGD associated with Sinusitis; mRNA:increased expression:mucosa of ethmoidal sinus (human)
1303058 Chia chitinase, acidic gene DOID:9003281 Spontaneous Abortions ISO RGD:1604020 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642
1303058 Chia chitinase, acidic gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1604020 D RGD:5037226|PMID:20422678 20110303 RGD mRNA, protein:increased expression:turbinate, mucosa (human)
1303058 Chia chitinase, acidic gene DOID:9005372 Inflammation ISO RGD:1615785 D RGD:5024919|PMID:17450126 20110302 RGD
1303059 Skic2 SKI2 subunit of superkiller complex gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1351044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303059 Skic2 SKI2 subunit of superkiller complex gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1351044 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism
1303059 Skic2 SKI2 subunit of superkiller complex gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1351044 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome PMID:16199547|PMID:22444670|PMID:25741868|PMID:27050310|PMID:28492532|PMID:28496993|PMID:29527791|PMID:31681265|PMID:33098347|PMID:33249554|PMID:35607352
1303059 Skic2 SKI2 subunit of superkiller complex gene DOID:0111416 trichohepatoenteric syndrome 2 ISO RGD:1351044 D RGD:7240710 20140903 OMIM
1303059 Skic2 SKI2 subunit of superkiller complex gene DOID:0111416 trichohepatoenteric syndrome 2 ISO RGD:1351044 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 PMID:16199547|PMID:22444670|PMID:24033266|PMID:25326635|PMID:25714577|PMID:25741868|PMID:27050310|PMID:27431780|PMID:28492532|PMID:28496993|PMID:29527791|PMID:31681265|PMID:32313153|PMID:32963807|PMID:33098347|PMID:33114497|PMID:33249554|PMID:34414925|PMID:35607352
1303059 Skic2 SKI2 subunit of superkiller complex gene DOID:630 genetic disease ISO RGD:1351044 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1303060 Hyal1 hyaluronidase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532
1303060 Hyal1 hyaluronidase 1 gene DOID:0050809 mucopolysaccharidosis IX ISO RGD:1352194 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303060 Hyal1 hyaluronidase 1 gene DOID:0050809 mucopolysaccharidosis IX ISO RGD:1352194 D RGD:7240710 20131030 OMIM
1303060 Hyal1 hyaluronidase 1 gene DOID:0050809 mucopolysaccharidosis IX ISO RGD:1352194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase | ClinVar Annotator: match by term: HYALURONIDASE DEFICIENCY PMID:10339581|PMID:16199547|PMID:17576681|PMID:21559944|PMID:25741868|PMID:27424109|PMID:28492532|PMID:33942374|PMID:8793927|PMID:9536098
1303060 Hyal1 hyaluronidase 1 gene DOID:0050809 mucopolysaccharidosis IX ISS RGD:1550529 D RGD:13592920 20230718 MouseDO OMIM:601492
1303060 Hyal1 hyaluronidase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532
1303060 Hyal1 hyaluronidase 1 gene DOID:12798 mucopolysaccharidosis ISO RGD:1352194 D RGD:1599811|PMID:10339581 20070215 RGD mucopolysaccharidosis IX, OMIM:601492
1303060 Hyal1 hyaluronidase 1 gene DOID:6432 pulmonary hypertension IEP D RGD:9588633|PMID:19915162 20141103 RGD mRNA:decreased expression:lung
1303060 Hyal1 hyaluronidase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1352194 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532
1303060 Hyal1 hyaluronidase 1 gene DOID:9006223 Kidney Reperfusion Injury IEP D RGD:9588636|PMID:22529164 20141103 RGD
1303060 Hyal1 hyaluronidase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352194 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532
1303061 Cenpc centromere protein C gene DOID:0060218 CREST syndrome ISO RGD:1354407 D RGD:27372886|PMID:25220385 20200529 RGD associated with Anticentromere antibody positivity
1303061 Cenpc centromere protein C gene DOID:5082 liver cirrhosis ISO RGD:1354407 D RGD:27372886|PMID:25220385 20200529 RGD associated with Anticentromere antibody positivity
1303061 Cenpc centromere protein C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354407 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303064 Ly6g6d lymphocyte antigen 6 family member G6D gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1354154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303064 Ly6g6d lymphocyte antigen 6 family member G6D gene DOID:11372 megacolon ISO RGD:1354154 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303065 Spata4 spermatogenesis associated 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348615 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303066 Atat1 alpha tubulin acetyltransferase 1 gene DOID:11372 megacolon ISO RGD:1347627 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303066 Atat1 alpha tubulin acetyltransferase 1 gene DOID:9002189 High Myopia ISO RGD:1347627 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia
1303066 Atat1 alpha tubulin acetyltransferase 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1347627 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:736450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0050908 myelodysplastic syndrome ISO RGD:736450 D RGD:11352253|PMID:24264604 20160712 RGD
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0060901 lymphoplasmacytic lymphoma disease_progression ISO RGD:736450 D RGD:11040774|PMID:21564078 20160315 RGD DNA:polymorphism: :
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0060901 lymphoplasmacytic lymphoma treatment ISO RGD:736450 D RGD:11352262|PMID:15659493 20160712 RGD DNA:SNP:exon:p.F158V (rs396991) (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0080162 lupus nephritis susceptibility ISO RGD:736450 D RGD:5508454|PMID:17596285 20160318 RGD DNA:SNP:cds:p.V158F (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0081267 graft-versus-host disease ISO RGD:736450 D RGD:11040884|PMID:20400988 20160316 RGD DNA:polymorphism:cds:p. V158F(rs396991)(human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0111941 immunodeficiency 20 ISO RGD:736450 D RGD:7240710 20140911 OMIM
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:0111941 immunodeficiency 20 ISO RGD:736450 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity PMID:23006327|PMID:24033266|PMID:25741868|PMID:8608639|PMID:8609432|PMID:8874200
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:1037 lymphoid leukemia no_association ISO RGD:736450 D RGD:11344968|PMID:15217834 20160711 RGD DNA:polymorphism:exon:p.F158V (rs396991) (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:10608 celiac disease ISO RGD:736450 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:30097691
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:10952 nephritis ISO RGD:1550776 D RGD:5508402|PMID:16520389 20111014 RGD
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:1205 allergic disease treatment ISO RGD:736450 D RGD:11352264|PMID:22025730 20160712 RGD associated with Purpura, Thrombocytopenic, Idiopathic
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:13241 Behcet's disease susceptibility ISO RGD:736450 D RGD:5508432|PMID:19026120 20111017 RGD DNA:SNP:exon:p.F158V (rs396991)(human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:13375 temporal arteritis ISO RGD:736450 D RGD:5147974|PMID:16846526 20110830 RGD DNA:polymorphism (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:1389 polyneuropathy treatment ISO RGD:736450 D RGD:11352254|PMID:24487381 20160712 RGD associated with Monoclonal Gammopathy of Undetermined Significance;DNA:SNP:exon:p.F158V (rs396991) (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:1540 parathyroid carcinoma ISO RGD:736450 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:1587 thrombocytopenia due to platelet alloimmunization treatment ISO RGD:736450 D RGD:11040770|PMID:22775462 20160315 RGD DNA:SNP:cds:
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:1826 epilepsy susceptibility ISO RGD:736450 D RGD:5508454|PMID:17596285 20160318 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:2377 multiple sclerosis disease_progression ISO RGD:736450 D RGD:5508375|PMID:18155780 20111013 RGD protein:increased expression:gamma-delta T cell
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:2841 asthma susceptibility ISO RGD:736450 D RGD:5508449|PMID:18199088 20111018 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:2921 glomerulonephritis ISO RGD:1550776 D RGD:5508439|PMID:19050295 20111018 RGD
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736450 D RGD:5508463|PMID:16221721 20111018 RGD DNA:polymorphism:exon:p.F176V(human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:3393 coronary artery disease susceptibility ISO RGD:736450 D RGD:5508464|PMID:15910853 20111018 RGD DNA:SNP:exon:p.F158V (rs396991)(human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:4481 allergic rhinitis susceptibility ISO RGD:736450 D RGD:5508449|PMID:18199088 20111018 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:736450 D RGD:5508400|PMID:19946017 20111014 RGD DNA:cnv: :
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:4780 anti-basement membrane glomerulonephritis no_association ISO RGD:736450 D RGD:5508403|PMID:19640933 20111014 RGD DNA:polymorphism:exon:(rs396991)(human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:736450 D RGD:5508390|PMID:21187939 20111014 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:552 pneumonia treatment ISO RGD:736450 D RGD:11352258|PMID:20423913 20160712 RGD associated with Hodgkin Disease;DNA:SNP:exon:p.F158V (rs396991) (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:614 lymphopenia susceptibility ISO RGD:736450 D RGD:5508454|PMID:17596285 20160318 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:633 myositis susceptibility ISO RGD:736450 D RGD:5508428|PMID:19493236 20111017 RGD DNA:SNP:exon:p.F158V (rs396991)(human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:7147 ankylosing spondylitis severity ISO RGD:736450 D RGD:5508388|PMID:8453794 20111014 RGD protein:decreased expression:polymorphonuclear leucocyte
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:7148 rheumatoid arthritis ISO RGD:736450 D RGD:11344974|PMID:25154742 20160711 RGD DNA:CNVs
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:7148 rheumatoid arthritis ISO RGD:736450 D RGD:5508467|PMID:15334114 20111018 RGD protein:decreased expression:NK cell
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:736450 D RGD:5508391|PMID:19019892 20111014 RGD DNA:polymorphism:exon:p.F158V(rs396991)(human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:848 arthritis ISO RGD:736450 D RGD:5508443|PMID:19005160 20111018 RGD DNA:SNP:exon:F158V (rs396991)(human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:848 arthritis susceptibility ISO RGD:736450 D RGD:5508432|PMID:19026120 20111017 RGD associated with Behcet Syndrome; DNA:SNP:exon:p.F158V (rs396991)(human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:8778 Crohn's disease treatment ISO RGD:736450 D RGD:1304543|PMID:14987319 20160713 RGD DNA:SNP:exon:p.F158V (rs396991) (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:736450 D RGD:11040776|PMID:11380443 20160315 RGD DNA:SNP:cds:p.V158F(human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:736450 D RGD:11040989|PMID:22123287 20160712 RGD DNA:SNP:exon:p.F158V (rs396991) (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1550776 D RGD:11344926|PMID:15479722 20160708 RGD
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:736450 D RGD:11352255|PMID:23484707 20160712 RGD DNA:SNP:exon:p.F158V (rs396991) (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736450 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:736450 D RGD:11352260|PMID:14563637 20160712 RGD DNA:SNP:exon:p.F158V (rs396991) (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia treatment ISO RGD:736450 D RGD:11344967|PMID:27282998 20160711 RGD associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9004486 Drug-induced Neutropenia ISO RGD:736450 D RGD:11344964|PMID:21883784 20160711 RGD associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9004486 Drug-induced Neutropenia ISO RGD:736450 D RGD:11344973|PMID:19933905 20160711 RGD associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9004486 Drug-induced Neutropenia ISO RGD:736450 D RGD:11352256|PMID:20730791 20160712 RGD associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9004792 Familial Mixed Cryoglobulinemia treatment ISO RGD:736450 D RGD:11344956|PMID:21538321 20160711 RGD DNA:polymorphism: :p.V176F (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9005125 Lupus Vasculitis, Central Nervous System ISO RGD:736450 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:26773105
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9008208 Heparin-induced Thrombocytopenia susceptibility ISO RGD:736450 D RGD:11040991|PMID:15191947 20160318 RGD DNA:SNP:cds:p.V158F(human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9008765 Malarial Anemia severity ISO RGD:736450 D RGD:11040771|PMID:20231419 20160711 RGD
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9008765 Malarial Anemia susceptibility ISO RGD:736450 D RGD:11344971|PMID:23045477 20160711 RGD DNA:polymorphism: :p.F176V (human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9009008 Temporomandibular Joint Dysfunction Syndrome IMP D RGD:5508377|PMID:20589683 20111011 RGD
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9074 systemic lupus erythematosus ISO RGD:736450 D RGD:11344974|PMID:25154742 20160711 RGD DNA:CNVs
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9074 systemic lupus erythematosus ISO RGD:736450 D RGD:5508389|PMID:21370226 20111014 RGD protein:decreased expression:NK cell
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:736450 D RGD:5508444|PMID:18625651 20111018 RGD DNA:SNPs:exon:rs403016,rs428888(human)
1303067 Fcgr3a Fc gamma receptor 3A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736450 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1303068 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1353529 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868
1303068 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1353529 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588
1303068 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1353529 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362
1303068 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:5419 schizophrenia ISO RGD:1353529 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1303068 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1353529 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16762588
1303068 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9006549 Enterovirus Infections ISO RGD:1353529 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28446605
1303068 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9007661 Dwarfism ISO RGD:1353529 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362
1303069 Nup35 nucleoporin 35 gene DOID:0080072 intestinal pseudo-obstruction ISS RGD:1550583 D RGD:13592920 20200702 MouseDO
1303069 Nup35 nucleoporin 35 gene DOID:10316 pneumoconiosis ISO RGD:1353367 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35506645
1303069 Nup35 nucleoporin 35 gene DOID:13938 amenorrhea ISO RGD:1353367 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106
1303071 Akap7 A-kinase anchoring protein 7 gene DOID:303 substance-related disorder ISO RGD:1350760 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672
1303073 Xbp1 X-box binding protein 1 gene DOID:0050589 inflammatory bowel disease ISS RGD:1332312 D RGD:13592920 20180518 MouseDO
1303073 Xbp1 X-box binding protein 1 gene DOID:0050770 polycystic liver disease ISO RGD:1352787 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868
1303073 Xbp1 X-box binding protein 1 gene DOID:0060478 Zika fever ISO RGD:1332312 D RGD:32733625|PMID:30241539 20200701 RGD protein:increased expression:cerebellum, mesocephalon
1303073 Xbp1 X-box binding protein 1 gene DOID:0060980 polycystic liver disease 1 ISO RGD:1352787 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:25741868
1303073 Xbp1 X-box binding protein 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1352787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097666
1303073 Xbp1 X-box binding protein 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment IEP D RGD:329955565|PMID:26394137 20230717 RGD
1303073 Xbp1 X-box binding protein 1 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1352787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927
1303073 Xbp1 X-box binding protein 1 gene DOID:10603 glucose intolerance ISO RGD:1352787 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:27325692
1303073 Xbp1 X-box binding protein 1 gene DOID:2377 multiple sclerosis ISO RGD:1352787 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:30661753
1303073 Xbp1 X-box binding protein 1 gene DOID:3070 high grade glioma ISO RGD:1352787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21138464
1303073 Xbp1 X-box binding protein 1 gene DOID:5154 borna disease IEP D RGD:32733622|PMID:16912310 20200701 RGD mRNA,protein:altered expression:cerebellum,hippocampus
1303073 Xbp1 X-box binding protein 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1352787 D RGD:11554173 20190702 CTD CTD Direct Evidence: marker/mechanism PMID:29793971
1303073 Xbp1 X-box binding protein 1 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1352787 D RGD:32716425|PMID:26234401 20200630 RGD mRNA, protein:decreased expression:liver
1303073 Xbp1 X-box binding protein 1 gene DOID:9002488 Peritoneal Fibrosis treatment IEP D RGD:32733624|PMID:31836774 20200701 RGD
1303073 Xbp1 X-box binding protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1352787 D RGD:11554173 20210112 CTD CTD Direct Evidence: marker/mechanism PMID:30661753
1303073 Xbp1 X-box binding protein 1 gene DOID:9006048 Major Affective Disorder 7 ISO RGD:1352787 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism
1303073 Xbp1 X-box binding protein 1 gene DOID:9006048 Major Affective Disorder 7 ISO RGD:1352787 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Major affective disorder 7
1303073 Xbp1 X-box binding protein 1 gene DOID:9006048 Major Affective Disorder 7 susceptibility ISO RGD:1352787 D RGD:7240710 20190502 OMIM
1303073 Xbp1 X-box binding protein 1 gene DOID:9006599 Hypertriglyceridemia treatment IEP D RGD:329955565|PMID:26394137 20230717 RGD
1303073 Xbp1 X-box binding protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1332312 D RGD:2326004|PMID:15486293 20100616 RGD
1303073 Xbp1 X-box binding protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1352787 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:27325692
1303073 Xbp1 X-box binding protein 1 gene DOID:9007692 Insulin Resistance treatment IEP D RGD:329955565|PMID:26394137 20230717 RGD
1303073 Xbp1 X-box binding protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1352787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532
1303073 Xbp1 X-box binding protein 1 gene DOID:9452 steatotic liver disease ISO RGD:1352787 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24097666
1303074 Edem2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1354312 D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
1303074 Edem2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:0080699 glutathione synthetase deficiency ISO RGD:1354312 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA PMID:12638941|PMID:15717202|PMID:28492532
1303074 Edem2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria ISO RGD:1354312 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY PMID:12638941|PMID:15717202|PMID:28492532
1303074 Edem2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:2843 long QT syndrome ISO RGD:1354312 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532
1303074 Edem2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:5419 schizophrenia ISO RGD:1354312 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266
1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:2377 multiple sclerosis ISO RGD:1346893 D RGD:5686803|PMID:14688203 20120126 RGD
1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:3770 pulmonary fibrosis IEP D RGD:10445835|PMID:24670792 20151204 RGD protein:decreased expression:lung (rat)
1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1346893 D RGD:152177907|PMID:24796583 20220519 RGD protein:increased expression:liver (human)
1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:4989 pancreatitis IEP D RGD:5686868|PMID:19346995 20120130 RGD mRNA:increased expression:lung (rat)
1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1346893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739
1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:767 muscular atrophy IEP D RGD:5686383|PMID:21639837 20120120 RGD mRNA:decreased expression:soleus muscle (rat)
1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10445836|PMID:24499940 20151204 RGD protein:decreased expression:spinal cord (rat)
1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346893 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17566973
1303075 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:9007456 Female Infertility ISO RGD:1346893 D RGD:10445839|PMID:19022436 20151204 RGD
1303076 Sh2d2a SH2 domain containing 2A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577
1303076 Sh2d2a SH2 domain containing 2A gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1345635 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Duncan disease PMID:25741868
1303076 Sh2d2a SH2 domain containing 2A gene DOID:0060705 X-linked lymphoproliferative syndrome 1 ISO RGD:1345635 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked PMID:25741868
1303076 Sh2d2a SH2 domain containing 2A gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:1345635 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV PMID:25741868
1303076 Sh2d2a SH2 domain containing 2A gene DOID:0080600 COVID-19 ISO RGD:1345635 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1303076 Sh2d2a SH2 domain containing 2A gene DOID:0111940 immunodeficiency 42 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532
1303076 Sh2d2a SH2 domain containing 2A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532
1303076 Sh2d2a SH2 domain containing 2A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1345635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532
1303076 Sh2d2a SH2 domain containing 2A gene DOID:1540 parathyroid carcinoma ISO RGD:1345635 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1303076 Sh2d2a SH2 domain containing 2A gene DOID:2377 multiple sclerosis ISO RGD:1345635 D RGD:1358573|PMID:11528519 19990101 RGD DNA:repeat:promoter:-341(GA)13-33 (human)
1303076 Sh2d2a SH2 domain containing 2A gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1345635 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:18554728|REF_RGD_ID:2298871
1303076 Sh2d2a SH2 domain containing 2A gene DOID:5812 MHC class II deficiency ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532
1303076 Sh2d2a SH2 domain containing 2A gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345635 D RGD:2298870|PMID:15129233 20080729 RGD
1303076 Sh2d2a SH2 domain containing 2A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345635 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1303077 Spink7 serine peptidase inhibitor, Kazal type 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1303077 Spink7 serine peptidase inhibitor, Kazal type 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606769 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303077 Spink7 serine peptidase inhibitor, Kazal type 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1303079 Amigo1 adhesion molecule with Ig like domain 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532
1303079 Amigo1 adhesion molecule with Ig like domain 1 gene DOID:12849 autistic disorder ISO RGD:1606525 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1303079 Amigo1 adhesion molecule with Ig like domain 1 gene DOID:5419 schizophrenia ISO RGD:1552604 D RGD:11536055|PMID:26240432 20190221 RGD
1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:0090112 Nasu-Hakola disease ISO RGD:1351113 D RGD:11554173 20200211 CTD CTD Direct Evidence: marker/mechanism PMID:17430113
1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:0090112 Nasu-Hakola disease ISO RGD:1351113 D RGD:7240710 20130221 OMIM
1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:0090112 Nasu-Hakola disease ISO RGD:1351113 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | ClinVar Annotator: match by term: TYROBP-related condition PMID:10888890|PMID:11109371|PMID:12370476|PMID:15883308|PMID:17125796|PMID:20500450|PMID:22082900|PMID:25741868|PMID:27658901|PMID:28492532|PMID:28620717|PMID:31996268|PMID:36133075
1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:0090112 Nasu-Hakola disease ISS RGD:1624060 D RGD:13592920 20230718 MouseDO OMIM:221770
1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:0110222 Brugada syndrome 5 ISO RGD:1351113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532
1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1351113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532
1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:409 liver disease ISO RGD:1351113 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12651611
1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:630 genetic disease ISO RGD:1351113 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27658901|PMID:28492532|PMID:28716534|PMID:33527991
1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:7148 rheumatoid arthritis treatment IEP D RGD:127229930|PMID:27049384 20210603 RGD
1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351113 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1303081 Tyrobp transmembrane immune signaling adaptor Tyrobp gene DOID:9008023 Memory Disorders ISO RGD:1351113 D RGD:8554872 20240402 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
1303082 Fcar Fc alpha receptor gene DOID:0050855 renal fibrosis ISO RGD:1344251 D RGD:7242172|PMID:18250479 20130327 RGD
1303082 Fcar Fc alpha receptor gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1344251 D RGD:7242064|PMID:22147912 20130326 RGD
1303082 Fcar Fc alpha receptor gene DOID:2986 IgA glomerulonephritis ISO RGD:1344251 D RGD:7242063|PMID:22451718 20130326 RGD
1303082 Fcar Fc alpha receptor gene DOID:2986 IgA glomerulonephritis ISO RGD:1344251 D RGD:7242167|PMID:21985370 20130327 RGD
1303084 Pbx2 PBX homeobox 2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1350680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303085 Nop53 NOP53 ribosome biogenesis factor gene DOID:11612 polycystic ovary syndrome ISO RGD:1353107 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543
1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:11038734|PMID:11050011 20160223 RGD DNA:missense mutation:exon:p.E433K (1305G>A) (human)
1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:11038735|PMID:11843825 20160223 RGD DNA:missense mutation:exon:p.V411L (1299G>C) (human)
1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21326867
1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:7240710 20130221 OMIM
1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: ABCB7-related condition | ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia PMID:10196363|PMID:11050011|PMID:11118249|PMID:11843825|PMID:17576681|PMID:22398176|PMID:25741868|PMID:28492532|PMID:34354969|PMID:4045952|PMID:9536098
1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia susceptibility ISO RGD:1351480 D RGD:1598600|PMID:10196363 20061206 RGD DNA:missense mutation: :p.I400M (human)
1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351480 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0111823 autosomal hemophilia A ISO RGD:1351480 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1351480 D RGD:8554872 20151013 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992
1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:12134 factor VIII deficiency ISO RGD:1351480 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:12849 autistic disorder ISO RGD:1351480 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:630 genetic disease ISO RGD:1351480 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26242992|PMID:28492532
1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:8955 sideroblastic anemia ISO RGD:1351480 D RGD:11038732|PMID:18398482 20160223 RGD
1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:8955 sideroblastic anemia ISO RGD:1351480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16892088|PMID:18637800
1303086 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:9004866 Ataxia ISO RGD:1351480 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16892088
1303087 Wfdc9 WAP four-disulfide core domain 9 gene DOID:2234 focal epilepsy ISO RGD:1350341 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362
1303087 Wfdc9 WAP four-disulfide core domain 9 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1350341 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:26255240|PMID:26376800|PMID:28492532
1303087 Wfdc9 WAP four-disulfide core domain 9 gene DOID:630 genetic disease ISO RGD:1350341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
1303087 Wfdc9 WAP four-disulfide core domain 9 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532
1303089 Gsn gelsolin gene DOID:0050637 Finnish type amyloidosis ISO RGD:1346375 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303089 Gsn gelsolin gene DOID:0050637 Finnish type amyloidosis ISO RGD:1346375 D RGD:7240710 20130221 OMIM
1303089 Gsn gelsolin gene DOID:0050637 Finnish type amyloidosis ISO RGD:1346375 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Amyloidosis 5 | ClinVar Annotator: match by term: Finnish type amyloidosis | ClinVar Annotator: match by term: GSN-related condition PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:1338910|PMID:14640038|PMID:16199547|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1849145|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:22622774|PMID:22938848|PMID:24601799|PMID:25342098|PMID:25601851|PMID:25741868|PMID:26915616|PMID:27633054|PMID:27982499|PMID:28492532|PMID:28924445|PMID:29069428|PMID:29167514|PMID:29637772|PMID:30625383|PMID:31243148|PMID:33499149|PMID:33598831|PMID:33973672|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:8395367|PMID:9536098
1303089 Gsn gelsolin gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:1550660 D RGD:329333016|PMID:19669398 20230426 RGD
1303089 Gsn gelsolin gene DOID:10591 pre-eclampsia disease_progression ISO RGD:1346375 D RGD:329337339|PMID:24239294 20230427 RGD protein:decreased expression:blood plasma (human)
1303089 Gsn gelsolin gene DOID:11476 osteoporosis ISO RGD:1346375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182
1303089 Gsn gelsolin gene DOID:1459 hypothyroidism IEP D RGD:1599872|PMID:2848627 20070219 RGD Protein:increased expression:cochlea
1303089 Gsn gelsolin gene DOID:3525 middle cerebral artery infarction ISO RGD:1550660 D RGD:329333031|PMID:18234195 20230426 RGD
1303089 Gsn gelsolin gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:1550660 D RGD:329333033|PMID:9927495 20230426 RGD
1303089 Gsn gelsolin gene DOID:3526 cerebral infarction severity ISO RGD:1346375 D RGD:329337334|PMID:21481565 20230427 RGD protein:decreased expression:blood plasma (human)
1303089 Gsn gelsolin gene DOID:5844 myocardial infarction ISO RGD:1346375 D RGD:329333022|PMID:9142022 20230426 RGD protein:decreased expression:blood serum (human)
1303089 Gsn gelsolin gene DOID:5844 myocardial infarction ameliorates IEP D RGD:329333030|PMID:28622474 20230426 RGD
1303089 Gsn gelsolin gene DOID:60001 pulmonary artery disease severity ISO RGD:1550660 D RGD:329333024|PMID:12654637 20230426 RGD associated with ischemia
1303089 Gsn gelsolin gene DOID:630 genetic disease ISO RGD:1346375 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:14640038|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1848334|PMID:2153578|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:25601851|PMID:25741868|PMID:27982499|PMID:28166811|PMID:28492532|PMID:28924445|PMID:29167514|PMID:29637772|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:9536098
1303089 Gsn gelsolin gene DOID:630 genetic disease ISO RGD:1346375 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:1338910|PMID:14640038|PMID:16199547|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1849145|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:22622774|PMID:22938848|PMID:25342098|PMID:25601851|PMID:25741868|PMID:27982499|PMID:28492532|PMID:28924445|PMID:29069428|PMID:29167514|PMID:29637772|PMID:30625383|PMID:31243148|PMID:32368002|PMID:33598831|PMID:33973672|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:8395367|PMID:9536098
1303089 Gsn gelsolin gene DOID:8481 rheumatic myocarditis ISO RGD:1346375 D RGD:329333026|PMID:25403731 20230426 RGD protein:decreased expression:blood plasma (human)
1303089 Gsn gelsolin gene DOID:850 lung disease IEP D RGD:1599873|PMID:2829631 20070219 RGD Protein:increased expression:plasma
1303089 Gsn gelsolin gene DOID:9000438 Subarachnoid Hemorrhage disease_progression IEP D RGD:11055426|PMID:25744577 20230425 RGD mRNA, protein:altered expression:cerebral cortex (rat)
1303089 Gsn gelsolin gene DOID:9000438 Subarachnoid Hemorrhage severity ISO RGD:1346375 D RGD:329333027|PMID:23880145 20230426 RGD protein:decreased expression:blood plasma (human)
1303089 Gsn gelsolin gene DOID:9000815 Aortic Calcification disease_progression ISO RGD:1346375 D RGD:329336117|PMID:26941566 20230427 RGD protein:decreased expression:blood (human)
1303089 Gsn gelsolin gene DOID:9000895 Preterm Intraventricular Hemorrhage ISO RGD:1550660 D RGD:329337382|PMID:28755273 20230502 RGD protein:decreased expression:blood plasma (human)
1303089 Gsn gelsolin gene DOID:9000998 Brain Injuries IEP D RGD:1599864|PMID:14588109 20070219 RGD
1303089 Gsn gelsolin gene DOID:9001573 Experimental Liver Cirrhosis IEP D RGD:1599866|PMID:14574581 20070219 RGD mRNA, protein:increased expression
1303089 Gsn gelsolin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1303089 Gsn gelsolin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1346375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358
1303089 Gsn gelsolin gene DOID:9002599 Basal Ganglia Hemorrhage severity ISO RGD:1346375 D RGD:329333032|PMID:23142649 20230426 RGD protein:decreased expression:blood plasma (human)
1303089 Gsn gelsolin gene DOID:9003121 Thromboembolism ameliorates ISO RGD:1346375 D RGD:329333020|PMID:31002695 20230426 RGD human gene in mouse model
1303089 Gsn gelsolin gene DOID:9003565 Paratuberculosis ISO RGD:1346375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22633222
1303089 Gsn gelsolin gene DOID:9003566 Mesothelioma ISO RGD:1346375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15920167
1303089 Gsn gelsolin gene DOID:9003646 Arterial Thrombosis ameliorates ISO RGD:1346375 D RGD:329333020|PMID:31002695 20230426 RGD human gene in mouse model
1303089 Gsn gelsolin gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:1346375 D RGD:329333029|PMID:29466895 20230426 RGD protein:decreased expression:blood plasma (human)
1303089 Gsn gelsolin gene DOID:9003936 Cardiomegaly ISO RGD:1346375 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:30240538
1303089 Gsn gelsolin gene DOID:9003936 Cardiomegaly treatment IEP D RGD:329333015|PMID:30240538 20230426 RGD
1303089 Gsn gelsolin gene DOID:9004484 Sepsis ISO RGD:1346375 D RGD:329333022|PMID:9142022 20230426 RGD protein:decreased expression:blood serum (human)
1303089 Gsn gelsolin gene DOID:9004492 Familial Amyloidosis ISO RGD:1346375 D RGD:1599858|PMID:2175344 20070219 RGD DNA:point mutation: ;654G>A
1303089 Gsn gelsolin gene DOID:9004590 Acute Liver Failure ISO RGD:1346375 D RGD:329333022|PMID:9142022 20230426 RGD protein:decreased expression:blood serum (human)
1303089 Gsn gelsolin gene DOID:9004657 Weight Gain ISO RGD:1346375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233
1303089 Gsn gelsolin gene DOID:9005233 Experimental Mammary Neoplasms IEP D RGD:1599869|PMID:8895730 20070219 RGD mRNA:decreased expression
1303089 Gsn gelsolin gene DOID:9006646 Metabolic Syndrome severity ISO RGD:1550660 D RGD:329333017|PMID:29684438 20230426 RGD
1303089 Gsn gelsolin gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:1550660 D RGD:329333014|PMID:19246681 20230426 RGD
1303089 Gsn gelsolin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346375 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16099942
1303089 Gsn gelsolin gene DOID:9008652 Postoperative Atrial Fibrillation susceptibility ISO RGD:1346375 D RGD:329337380|PMID:27923400 20230502 RGD DNA:SNP:: (rs2230287) (human)
1303089 Gsn gelsolin gene DOID:9120 amyloidosis ISO RGD:1346375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:25741868|PMID:28492532
1303089 Gsn gelsolin gene DOID:9159 gas gangrene ISO RGD:1346375 D RGD:329333022|PMID:9142022 20230426 RGD protein:decreased expression:blood serum (human)
1303090 Rpp21 ribonuclease P/MRP subunit p21 gene DOID:11372 megacolon ISO RGD:1346051 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303091 Kcnk18 potassium two pore domain channel subfamily K member 18 gene DOID:0111804 syndromic microphthalmia 11 ISO RGD:1346775 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 11 PMID:28492532
1303091 Kcnk18 potassium two pore domain channel subfamily K member 18 gene DOID:6364 migraine ISO RGD:1346775 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: KCNK18-related condition | ClinVar Annotator: match by term: Migraine, with or without aura, susceptibility to, 13 PMID:20871611|PMID:25741868|PMID:28492532|PMID:30573346
1303091 Kcnk18 potassium two pore domain channel subfamily K member 18 gene DOID:6364 migraine susceptibility ISO RGD:1346775 D RGD:7240710 20220216 OMIM
1303093 Tmem35a transmembrane protein 35A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345227 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
1303093 Tmem35a transmembrane protein 35A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1345227 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532
1303093 Tmem35a transmembrane protein 35A gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1345227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532
1303093 Tmem35a transmembrane protein 35A gene DOID:0111823 autosomal hemophilia A ISO RGD:1345227 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
1303093 Tmem35a transmembrane protein 35A gene DOID:12134 factor VIII deficiency ISO RGD:1345227 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
1303093 Tmem35a transmembrane protein 35A gene DOID:12849 autistic disorder ISO RGD:1345227 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1303093 Tmem35a transmembrane protein 35A gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1345227 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532
1303094 Ablim2 actin binding LIM protein family, member 2 gene DOID:9002189 High Myopia ISO RGD:1349528 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia
1303096 Fut8 fucosyltransferase 8 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1344316 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532
1303096 Fut8 fucosyltransferase 8 gene DOID:630 genetic disease ISO RGD:1344316 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29304374
1303096 Fut8 fucosyltransferase 8 gene DOID:9003434 Congenital Disorder of Glycosylation with Defective Fucosylation 1 ISO RGD:1344316 D RGD:7240710 20190315 OMIM
1303096 Fut8 fucosyltransferase 8 gene DOID:9003434 Congenital Disorder of Glycosylation with Defective Fucosylation 1 ISO RGD:1344316 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 1 | ClinVar Annotator: match by term: FUT8-related condition PMID:24033266|PMID:25741868|PMID:28492532|PMID:29304374
1303096 Fut8 fucosyltransferase 8 gene DOID:9675 pulmonary emphysema ISS RGD:1550689 D RGD:13592920 20180518 MouseDO OMIM:130700
1303097 Gfpt2 glutamine-fructose-6-phosphate transaminase 2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1351553 D RGD:2307362|PMID:14764791 20090528 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr
1303097 Gfpt2 glutamine-fructose-6-phosphate transaminase 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1351553 D RGD:2307362|PMID:14764791 20090528 RGD DNA:missense mutation, SNPs:exon, 3' utr:multiple
1303098 Cpa5 carboxypeptidase A5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345322 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ISO RGD:1344115 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532
1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1344115 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532
1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1344115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532
1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:0080942 anauxetic dysplasia ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532
1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1344115 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532
1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532
1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:10283 prostate cancer ISO RGD:1344115 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:607 paraplegia ISO RGD:1344115 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:23332916|PMID:23332917|PMID:28492532
1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344115 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532
1303100 Cntfr ciliary neurotrophic factor receptor gene DOID:9870 galactosemia ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532
1303101 Ly6g5b lymphocyte antigen 6 family member G5B gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1349012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303101 Ly6g5b lymphocyte antigen 6 family member G5B gene DOID:11372 megacolon ISO RGD:1349012 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303101 Ly6g5b lymphocyte antigen 6 family member G5B gene DOID:9002536 POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME ISO RGD:1349012 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome PMID:29758562
1303103 Snu13 small nuclear ribonucleoprotein 13 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1347136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532
1303103 Snu13 small nuclear ribonucleoprotein 13 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1347136 D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0060903 thrombosis ISO RGD:1604306 D RGD:11554173 20191112 CTD CTD Direct Evidence: marker/mechanism PMID:29581108
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0060903 thrombosis ISO RGD:1604306 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thrombus PMID:15883587|PMID:15888487|PMID:15930419|PMID:15947090|PMID:16580898|PMID:16611310|PMID:16890578|PMID:17049586|PMID:17110455|PMID:17510308|PMID:18030307|PMID:18252229|PMID:18305455|PMID:18322281|PMID:18535201|PMID:18542936|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18855533|PMID:18950464|PMID:19018719|PMID:19135231|PMID:19228618|PMID:19277427|PMID:19300499|PMID:19387626|PMID:19582440|PMID:19679631|PMID:19745563|PMID:19794411|PMID:19874474|PMID:19875892|PMID:20072124|PMID:20128861|PMID:20203262|PMID:20339978|PMID:20375999|PMID:20376629|PMID:20386359|PMID:20421126|PMID:20555338|PMID:20615525|PMID:20653676|PMID:20833655|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21110192|PMID:21148049|PMID:21174619|PMID:21176721|PMID:21185752|PMID:21228733|PMID:21318593|PMID:21320153|PMID:21636598|PMID:21747589|PMID:22010099|PMID:22040439|PMID:22130800|PMID:22158446|PMID:22266406|PMID:22274142|PMID:22349464|PMID:22486182|PMID:22528326|PMID:22571356|PMID:22592842|PMID:22629463|PMID:22676192|PMID:22854539|PMID:22871975|PMID:22911785|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23061746|PMID:23104259|PMID:23159639|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23473641|PMID:23481074|PMID:23571513|PMID:23602689|PMID:23651023|PMID:23774101|PMID:23774941|PMID:23932037|PMID:23949431|PMID:23990957|PMID:24019055|PMID:24029542|PMID:24108193|PMID:24224579|PMID:24330000|PMID:24474498|PMID:24601977|PMID:24919870|PMID:24956252|PMID:25001883|PMID:25042728|PMID:25084205|PMID:25089947|PMID:25244877|PMID:25312789|PMID:25519826|PMID:25521356|PMID:25594941|PMID:25741868|PMID:25769357|PMID:26024874|PMID:26219158|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26745506|PMID:26777610|PMID:26984978|PMID:27262824|PMID:27335128|PMID:27488176|PMID:27511999|PMID:27581200|PMID:27617219|PMID:27703968|PMID:28033245|PMID:28049362|PMID:28382498|PMID:28429387|PMID:28492532|PMID:28550460|PMID:28689179|PMID:29396738|PMID:29432897|PMID:29568565|PMID:29577257|PMID:29781049|PMID:31114289|PMID:31395958|PMID:31720756|PMID:31902949
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0080665 warfarin resistance ISO RGD:1604306 D RGD:11554173 20200512 CTD CTD Direct Evidence: marker/mechanism PMID:14765194|PMID:20210733|PMID:20386359|PMID:20497562|PMID:20579077
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0080665 warfarin resistance ISO RGD:1604306 D RGD:7240710 20130221 OMIM
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0080665 warfarin resistance ISO RGD:1604306 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:14765194|PMID:15358623|PMID:15883587|PMID:15888487|PMID:15930419|PMID:15947090|PMID:16201835|PMID:16270629|PMID:16432637|PMID:16580898|PMID:16611310|PMID:16611750|PMID:16676068|PMID:16815313|PMID:16821005|PMID:16890578|PMID:17031720|PMID:17049586|PMID:17110455|PMID:17111199|PMID:17329985|PMID:17391071|PMID:17510308|PMID:17596133|PMID:17989110|PMID:18030307|PMID:18240904|PMID:18252229|PMID:18305455|PMID:18322281|PMID:18466099|PMID:18535201|PMID:18542936|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18781852|PMID:18855533|PMID:18950464|PMID:19018719|PMID:19074728|PMID:19077919|PMID:19135231|PMID:19177029|PMID:19225451|PMID:19228618|PMID:19270263|PMID:19277427|PMID:19297219|PMID:19300499|PMID:19387626|PMID:19582440|PMID:19679631|PMID:19745563|PMID:19794411|PMID:19874474|PMID:19875892|PMID:20020283|PMID:20072124|PMID:20128861|PMID:20203262|PMID:20339978|PMID:20375999|PMID:20376629|PMID:20386359|PMID:20421126|PMID:20555338|PMID:20585834|PMID:20615525|PMID:20653676|PMID:20833655|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21110192|PMID:21148049|PMID:21174619|PMID:21176721|PMID:21185752|PMID:21228733|PMID:21273734|PMID:21318593|PMID:21320153|PMID:21326313|PMID:21636598|PMID:21747589|PMID:21981797|PMID:22010099|PMID:22040439|PMID:22075505|PMID:22130800|PMID:22158446|PMID:22248286|PMID:22266406|PMID:22274142|PMID:22349464|PMID:22486182|PMID:22528326|PMID:22534826|PMID:22549502|PMID:22571356|PMID:22592842|PMID:22629463|PMID:22676192|PMID:22854539|PMID:22871975|PMID:22911785|PMID:22920394|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23061746|PMID:23104259|PMID:23159229|PMID:23159639|PMID:23183958|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23473641|PMID:23481074|PMID:23571513|PMID:23602689|PMID:23651023|PMID:23774101|PMID:23774941|PMID:23932037|PMID:23949431|PMID:23990957|PMID:24019055|PMID:24029542|PMID:24108193|PMID:24224579|PMID:24330000|PMID:24474498|PMID:24601977|PMID:24728385|PMID:24919870|PMID:24956252|PMID:25001883|PMID:25026456|PMID:25042728|PMID:25084205|PMID:25089947|PMID:25244877|PMID:25312789|PMID:25519826|PMID:25521356|PMID:25594941|PMID:25741868|PMID:25769357|PMID:25989350|PMID:26024874|PMID:26219158|PMID:26223945|PMID:26257249|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26745506|PMID:26777610|PMID:26984978|PMID:26996562|PMID:27121899|PMID:27262824|PMID:27335128|PMID:27488176|PMID:27511999|PMID:27581200|PMID:27617219|PMID:27703968|PMID:27938396|PMID:28033245|PMID:28049362|PMID:28262345|PMID:28382498|PMID:28429387|PMID:28492532|PMID:28550460|PMID:28689179|PMID:29054760|PMID:29396738|PMID:29432897|PMID:29568565|PMID:29577257|PMID:29781049|PMID:30207196|PMID:30983536|PMID:31114289|PMID:31395958|PMID:31653973|PMID:31720756|PMID:31902949
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0080666 warfarin sensitivity IAGP D RGD:1303972|PMID:14765194 20180627 RGD DNA:missense mutation: :p.Y139C (416A>G) (rat)
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0080666 warfarin sensitivity ISO RGD:1604306 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:14765194|PMID:15358623|PMID:15883587|PMID:15888487|PMID:15930419|PMID:15947090|PMID:16201835|PMID:16270629|PMID:16432637|PMID:16580898|PMID:16611310|PMID:16611750|PMID:16676068|PMID:16815313|PMID:16821005|PMID:16890578|PMID:17031720|PMID:17049586|PMID:17110455|PMID:17111199|PMID:17329985|PMID:17391071|PMID:17510308|PMID:17596133|PMID:17989110|PMID:18030307|PMID:18240904|PMID:18252229|PMID:18305455|PMID:18322281|PMID:18466099|PMID:18535201|PMID:18542936|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18781852|PMID:18855533|PMID:18950464|PMID:19018719|PMID:19074728|PMID:19077919|PMID:19135231|PMID:19177029|PMID:19225451|PMID:19228618|PMID:19270263|PMID:19277427|PMID:19297219|PMID:19300499|PMID:19387626|PMID:19582440|PMID:19679631|PMID:19745563|PMID:19794411|PMID:19874474|PMID:19875892|PMID:20020283|PMID:20072124|PMID:20128861|PMID:20203262|PMID:20339978|PMID:20375999|PMID:20376629|PMID:20386359|PMID:20421126|PMID:20555338|PMID:20585834|PMID:20615525|PMID:20653676|PMID:20833655|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21110192|PMID:21148049|PMID:21174619|PMID:21176721|PMID:21185752|PMID:21228733|PMID:21273734|PMID:21318593|PMID:21320153|PMID:21326313|PMID:21636598|PMID:21747589|PMID:21981797|PMID:22010099|PMID:22040439|PMID:22075505|PMID:22130800|PMID:22158446|PMID:22248286|PMID:22266406|PMID:22274142|PMID:22349464|PMID:22486182|PMID:22528326|PMID:22534826|PMID:22549502|PMID:22571356|PMID:22592842|PMID:22629463|PMID:22676192|PMID:22854539|PMID:22871975|PMID:22911785|PMID:22920394|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23061746|PMID:23104259|PMID:23159229|PMID:23159639|PMID:23183958|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23473641|PMID:23481074|PMID:23571513|PMID:23602689|PMID:23651023|PMID:23774101|PMID:23774941|PMID:23932037|PMID:23949431|PMID:23990957|PMID:24019055|PMID:24029542|PMID:24108193|PMID:24224579|PMID:24330000|PMID:24474498|PMID:24601977|PMID:24728385|PMID:24919870|PMID:24956252|PMID:25001883|PMID:25026456|PMID:25042728|PMID:25084205|PMID:25089947|PMID:25244877|PMID:25312789|PMID:25519826|PMID:25521356|PMID:25594941|PMID:25741868|PMID:25769357|PMID:25989350|PMID:26024874|PMID:26219158|PMID:26223945|PMID:26257249|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26745506|PMID:26777610|PMID:26984978|PMID:26996562|PMID:27121899|PMID:27262824|PMID:27335128|PMID:27488176|PMID:27511999|PMID:27581200|PMID:27617219|PMID:27703968|PMID:27938396|PMID:28033245|PMID:28049362|PMID:28262345|PMID:28382498|PMID:28429387|PMID:28492532|PMID:28550460|PMID:28689179|PMID:29054760|PMID:29396738|PMID:29432897|PMID:29568565|PMID:29577257|PMID:29781049|PMID:30207196|PMID:30983536|PMID:31114289|PMID:31395958|PMID:31653973|PMID:31720756|PMID:31902949
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1604306 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 ISO RGD:1604306 D RGD:1303972|PMID:14765194 20180627 RGD DNA:missense mutation: :p.R98W (human)
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 ISO RGD:1604306 D RGD:7240710 20160113 OMIM
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 ISO RGD:1604306 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, type 2 PMID:11154138|PMID:14765194|PMID:15358623|PMID:15883587|PMID:16270629|PMID:16270630|PMID:16611750|PMID:16676068|PMID:16879214|PMID:16890578|PMID:17049586|PMID:17110455|PMID:17189218|PMID:18252229|PMID:18315553|PMID:18466099|PMID:19344422|PMID:20128861|PMID:20653676|PMID:21127708|PMID:21326313|PMID:21635147|PMID:22266406|PMID:22349464|PMID:22871975|PMID:22992668|PMID:23039877|PMID:23208322|PMID:23571513|PMID:23990957|PMID:24019055|PMID:24838629|PMID:25084205|PMID:25126975|PMID:25594941|PMID:25741868|PMID:28492532|PMID:31114289
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:1247 blood coagulation disease ISO RGD:1604306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19141161
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1604306 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:28492532
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:178 vascular disease ISO RGD:1604306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16549638
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9000185 Coumarin Sensitivity ISO RGD:1604306 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:14765194|PMID:15358623|PMID:15883587|PMID:15888487|PMID:15930419|PMID:15947090|PMID:16201835|PMID:16270629|PMID:16432637|PMID:16580898|PMID:16611310|PMID:16611750|PMID:16676068|PMID:16815313|PMID:16821005|PMID:16890578|PMID:17031720|PMID:17049586|PMID:17110455|PMID:17111199|PMID:17329985|PMID:17391071|PMID:17510308|PMID:17596133|PMID:17989110|PMID:18030307|PMID:18240904|PMID:18252229|PMID:18305455|PMID:18322281|PMID:18466099|PMID:18535201|PMID:18542936|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18781852|PMID:18855533|PMID:18950464|PMID:19018719|PMID:19074728|PMID:19077919|PMID:19135231|PMID:19177029|PMID:19225451|PMID:19228618|PMID:19270263|PMID:19277427|PMID:19297219|PMID:19300499|PMID:19387626|PMID:19582440|PMID:19679631|PMID:19745563|PMID:19794411|PMID:19874474|PMID:19875892|PMID:20020283|PMID:20072124|PMID:20128861|PMID:20203262|PMID:20339978|PMID:20375999|PMID:20376629|PMID:20386359|PMID:20421126|PMID:20555338|PMID:20585834|PMID:20615525|PMID:20653676|PMID:20833655|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21110192|PMID:21148049|PMID:21174619|PMID:21176721|PMID:21185752|PMID:21228733|PMID:21273734|PMID:21318593|PMID:21320153|PMID:21326313|PMID:21636598|PMID:21747589|PMID:21981797|PMID:22010099|PMID:22040439|PMID:22075505|PMID:22130800|PMID:22158446|PMID:22248286|PMID:22266406|PMID:22274142|PMID:22349464|PMID:22486182|PMID:22528326|PMID:22534826|PMID:22549502|PMID:22571356|PMID:22592842|PMID:22629463|PMID:22676192|PMID:22854539|PMID:22871975|PMID:22911785|PMID:22920394|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23061746|PMID:23104259|PMID:23159229|PMID:23159639|PMID:23183958|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23473641|PMID:23481074|PMID:23571513|PMID:23602689|PMID:23651023|PMID:23774101|PMID:23774941|PMID:23932037|PMID:23949431|PMID:23990957|PMID:24019055|PMID:24029542|PMID:24108193|PMID:24224579|PMID:24330000|PMID:24474498|PMID:24601977|PMID:24728385|PMID:24919870|PMID:24956252|PMID:25001883|PMID:25026456|PMID:25042728|PMID:25084205|PMID:25089947|PMID:25244877|PMID:25312789|PMID:25519826|PMID:25521356|PMID:25594941|PMID:25741868|PMID:25769357|PMID:25989350|PMID:26024874|PMID:26219158|PMID:26223945|PMID:26257249|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26745506|PMID:26777610|PMID:26984978|PMID:26996562|PMID:27121899|PMID:27262824|PMID:27335128|PMID:27488176|PMID:27511999|PMID:27581200|PMID:27617219|PMID:27703968|PMID:27938396|PMID:28033245|PMID:28049362|PMID:28262345|PMID:28382498|PMID:28429387|PMID:28492532|PMID:28550460|PMID:28689179|PMID:29054760|PMID:29396738|PMID:29432897|PMID:29568565|PMID:29577257|PMID:29781049|PMID:30207196|PMID:30983536|PMID:31114289|PMID:31395958|PMID:31653973|PMID:31720756|PMID:31902949
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9000528 Coronary Disease ISO RGD:1604306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16549638
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9000815 Aortic Calcification susceptibility IAGP D RGD:2315841|PMID:19884975 20100113 RGD DNA:missense mutation: :p.Y139C (416A>G) (rat)
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:1604306 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Venous thromboembolism PMID:15883587|PMID:15888487|PMID:15930419|PMID:15947090|PMID:16580898|PMID:16611310|PMID:16890578|PMID:17049586|PMID:17510308|PMID:18030307|PMID:18252229|PMID:18305455|PMID:18322281|PMID:18535201|PMID:18542936|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18855533|PMID:18950464|PMID:19018719|PMID:19135231|PMID:19228618|PMID:19277427|PMID:19300499|PMID:19387626|PMID:19582440|PMID:19679631|PMID:19745563|PMID:19794411|PMID:19874474|PMID:19875892|PMID:20072124|PMID:20128861|PMID:20203262|PMID:20339978|PMID:20375999|PMID:20376629|PMID:20386359|PMID:20421126|PMID:20555338|PMID:20615525|PMID:20653676|PMID:20833655|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21110192|PMID:21148049|PMID:21174619|PMID:21176721|PMID:21185752|PMID:21228733|PMID:21318593|PMID:21320153|PMID:21636598|PMID:21747589|PMID:22010099|PMID:22040439|PMID:22130800|PMID:22158446|PMID:22274142|PMID:22349464|PMID:22486182|PMID:22528326|PMID:22571356|PMID:22592842|PMID:22629463|PMID:22676192|PMID:22854539|PMID:22911785|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23061746|PMID:23104259|PMID:23159639|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23473641|PMID:23481074|PMID:23602689|PMID:23651023|PMID:23774101|PMID:23774941|PMID:23932037|PMID:23949431|PMID:23990957|PMID:24019055|PMID:24029542|PMID:24108193|PMID:24224579|PMID:24330000|PMID:24474498|PMID:24601977|PMID:24919870|PMID:24956252|PMID:25001883|PMID:25042728|PMID:25084205|PMID:25089947|PMID:25244877|PMID:25312789|PMID:25519826|PMID:25521356|PMID:25594941|PMID:25769357|PMID:26024874|PMID:26219158|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26745506|PMID:26777610|PMID:26984978|PMID:27262824|PMID:27335128|PMID:27488176|PMID:27511999|PMID:27581200|PMID:27617219|PMID:27703968|PMID:28033245|PMID:28049362|PMID:28382498|PMID:28429387|PMID:28550460|PMID:28689179|PMID:29396738|PMID:29432897|PMID:29568565|PMID:29577257|PMID:29781049|PMID:31114289|PMID:31395958|PMID:31720756|PMID:31902949
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9004080 Aortic Rupture ISO RGD:1604306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16549638
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1604306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26445138
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9007096 Stroke ISO RGD:1604306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16549638
1303107 Vkorc1 vitamin K epoxide reductase complex, subunit 1 gene DOID:9008217 Hemorrhage ISO RGD:1604306 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20597268|PMID:26445138
1303108 Ankra2 ankyrin repeat family A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347651 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303110 Ostn osteocrin gene DOID:5419 schizophrenia ISO RGD:1342782 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1303111 Rtca RNA 3'-terminal phosphate cyclase gene DOID:9269 maple syrup urine disease ISO RGD:1344520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532
1303113 Syap1 synapse associated protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353710 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
1303113 Syap1 synapse associated protein 1 gene DOID:12849 autistic disorder ISO RGD:1353710 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1303113 Syap1 synapse associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353710 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303114 Polr1h RNA polymerase I subunit H gene DOID:11372 megacolon ISO RGD:1351679 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303114 Polr1h RNA polymerase I subunit H gene DOID:9000217 Stomach Neoplasms ISO RGD:1351679 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16609701
1303114 Polr1h RNA polymerase I subunit H gene DOID:9002170 Experimental Neoplasms ISO RGD:1351679 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16609701
1303115 Trim39 tripartite motif-containing 39 gene DOID:11372 megacolon ISO RGD:1345253 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303117 Fam98c family with sequence similarity 98, member C gene DOID:0060041 autism spectrum disorder ISO RGD:1604231 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder
1303117 Fam98c family with sequence similarity 98, member C gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1604231 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3
1303118 Lrrc36 leucine rich repeat containing 36 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532
1303118 Lrrc36 leucine rich repeat containing 36 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1605363 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868
1303119 Itgb6 integrin subunit beta 6 gene DOID:0110064 amelogenesis imperfecta type 1H ISO RGD:1346382 D RGD:7240710 20170802 OMIM
1303119 Itgb6 integrin subunit beta 6 gene DOID:0110064 amelogenesis imperfecta type 1H ISO RGD:1346382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H | ClinVar Annotator: match by term: ITGB6-related condition PMID:14970781|PMID:16838342|PMID:24305999|PMID:24319098|PMID:25741868|PMID:28492532|PMID:9189626
1303119 Itgb6 integrin subunit beta 6 gene DOID:10283 prostate cancer ISO RGD:1346382 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
1303119 Itgb6 integrin subunit beta 6 gene DOID:10907 microcephaly ISO RGD:1346382 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868
1303119 Itgb6 integrin subunit beta 6 gene DOID:12849 autistic disorder ISO RGD:1346382 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213
1303119 Itgb6 integrin subunit beta 6 gene DOID:2841 asthma ISS RGD:1552765 D RGD:13592920 20180518 MouseDO OMIM:600807
1303119 Itgb6 integrin subunit beta 6 gene DOID:409 liver disease ISO RGD:1346382 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:18221819
1303119 Itgb6 integrin subunit beta 6 gene DOID:417 autoimmune disease ISO RGD:1346382 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:25055964
1303119 Itgb6 integrin subunit beta 6 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1346382 D RGD:2302245|PMID:18221819 20081205 RGD associated with Hepatitis C, Chronic;mRNA:increased expression:liver
1303119 Itgb6 integrin subunit beta 6 gene DOID:630 genetic disease ISO RGD:1346382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
1303119 Itgb6 integrin subunit beta 6 gene DOID:9001573 Experimental Liver Cirrhosis IMP D RGD:2302244|PMID:18538673 20081205 RGD mRNA, protein:increased expression:liver
1303119 Itgb6 integrin subunit beta 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346382 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:18221819
1303119 Itgb6 integrin subunit beta 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:1346382 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:18539642
1303119 Itgb6 integrin subunit beta 6 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1346382 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:18221819
1303119 Itgb6 integrin subunit beta 6 gene DOID:9446 cholangitis ISO RGD:1346382 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:25055964
1303119 Itgb6 integrin subunit beta 6 gene DOID:9675 pulmonary emphysema ISO RGD:1346382 D RGD:11554173 20170808 CTD CTD Direct Evidence: marker/mechanism PMID:12634787
1303119 Itgb6 integrin subunit beta 6 gene DOID:9675 pulmonary emphysema ISO RGD:1552765 D RGD:737734|PMID:12634787 19990101 RGD
1303119 Itgb6 integrin subunit beta 6 gene DOID:9675 pulmonary emphysema ISS RGD:1552765 D RGD:13592920 20230718 MouseDO OMIM:130700
1303120 Tacc1 transforming, acidic coiled-coil containing protein 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1342908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562
1303120 Tacc1 transforming, acidic coiled-coil containing protein 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1342908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532
1303120 Tacc1 transforming, acidic coiled-coil containing protein 1 gene DOID:1826 epilepsy ISO RGD:1342908 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868
1303120 Tacc1 transforming, acidic coiled-coil containing protein 1 gene DOID:607 paraplegia ISO RGD:1342908 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532
1303121 Txndc8 thioredoxin domain containing 8 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1345541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:28492532
1303121 Txndc8 thioredoxin domain containing 8 gene DOID:12336 male infertility ISO RGD:1345541 D RGD:1303999|PMID:15181017 19990101 RGD protein:increased expression:sperm (human)
1303122 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1346332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303122 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1346332 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868
1303122 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0111478 combined oxidative phosphorylation deficiency 20 ISO RGD:1346332 D RGD:7240710 20170301 OMIM
1303122 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0111478 combined oxidative phosphorylation deficiency 20 ISO RGD:1346332 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 | ClinVar Annotator: match by term: VARS2-related condition PMID:12345|PMID:16199547|PMID:24639874|PMID:24827421|PMID:25058219|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34362006|PMID:34484863
1303122 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:11372 megacolon ISO RGD:1346332 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303122 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1346332 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34362006|PMID:34484863
1303122 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:9009098 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY ISO RGD:1346332 D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
1303123 Apold1 apolipoprotein L domain containing 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1604585 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:23918416|PMID:27656287|PMID:28377535|PMID:28492532|PMID:28503605
1303123 Apold1 apolipoprotein L domain containing 1 gene DOID:9008123 Bleeding Disorder, Vascular-Type ISO RGD:1604585 D RGD:7240710 20240221 OMIM
1303125 Mucl3 mucin like 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1346376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303125 Mucl3 mucin like 3 gene DOID:11372 megacolon ISO RGD:1346376 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303125 Mucl3 mucin like 3 gene DOID:9007425 Diffuse Panbronchiolitis ISO RGD:1346376 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22152429
1303126 Smoc1 SPARC related modular calcium binding 1 gene DOID:0060861 microphthalmia with limb anomalies ISO RGD:1348217 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303126 Smoc1 SPARC related modular calcium binding 1 gene DOID:0060861 microphthalmia with limb anomalies ISO RGD:1348217 D RGD:7240710 20141015 OMIM
1303126 Smoc1 SPARC related modular calcium binding 1 gene DOID:0060861 microphthalmia with limb anomalies ISO RGD:1348217 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microphthalmia with limb anomalies | ClinVar Annotator: match by term: SMOC1-related condition PMID:19208380|PMID:21194678|PMID:21194680|PMID:23646827|PMID:25741868|PMID:28085523|PMID:28492532
1303126 Smoc1 SPARC related modular calcium binding 1 gene DOID:0060861 microphthalmia with limb anomalies ISS RGD:1552814 D RGD:13592920 20230718 MouseDO OMIM:206920
1303126 Smoc1 SPARC related modular calcium binding 1 gene DOID:630 genetic disease ISO RGD:1348217 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
1303126 Smoc1 SPARC related modular calcium binding 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348217 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1303127 Kansl2 KAT8 regulatory NSL complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1606280 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868
1303130 Glmp glycosylated lysosomal membrane protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577
1303130 Glmp glycosylated lysosomal membrane protein gene DOID:0080600 COVID-19 ISO RGD:1602078 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1303130 Glmp glycosylated lysosomal membrane protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532
1303130 Glmp glycosylated lysosomal membrane protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532
1303130 Glmp glycosylated lysosomal membrane protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532
1303130 Glmp glycosylated lysosomal membrane protein gene DOID:1540 parathyroid carcinoma ISO RGD:1602078 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1303130 Glmp glycosylated lysosomal membrane protein gene DOID:5812 MHC class II deficiency ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532
1303130 Glmp glycosylated lysosomal membrane protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602078 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1303131 Ncam2 neural cell adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1342930 D RGD:8554872 20160421 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562
1303131 Ncam2 neural cell adhesion molecule 2 gene DOID:13938 amenorrhea ISO RGD:1342930 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106
1303131 Ncam2 neural cell adhesion molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342930 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603206 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C ISO RGD:1603206 D RGD:7240710 20140911 OMIM
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C ISO RGD:1603206 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C PMID:16199547|PMID:17564964|PMID:23777631|PMID:23844677|PMID:25741868|PMID:28492532|PMID:31827005
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 ISO RGD:1603206 D RGD:8554872 20190820 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:16728649|PMID:17564964
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 ISO RGD:1603206 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 ISO RGD:1603206 D RGD:7240710 20130221 OMIM
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 ISO RGD:1603206 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 | ClinVar Annotator: match by term: PLEKHG5-related condition PMID:16199547|PMID:16728649|PMID:17564964|PMID:17576681|PMID:23777631|PMID:23844677|PMID:25326637|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28160950|PMID:28492532|PMID:29177109|PMID:31345219|PMID:31589614|PMID:31827005|PMID:33220101|PMID:34602496|PMID:38112783|PMID:9536098
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:11612 polycystic ovary syndrome ISO RGD:1603206 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:12377 spinal muscular atrophy ISO RGD:1603206 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1603206 D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:574 peripheral nervous system disease ISO RGD:1603206 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:29177109
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:630 genetic disease ISO RGD:1603206 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17564964|PMID:17576681|PMID:23777631|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28160950|PMID:28492532|PMID:31345219|PMID:31589614|PMID:31827005|PMID:38112783|PMID:9536098
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:870 neuropathy ISO RGD:1603206 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:29177109
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9000227 Hypogonadism and Testicular Atrophy ISO RGD:1603206 D RGD:8554872 20230627 ClinVar ClinVar Annotator: match by term: Testicular atrophy PMID:25741868|PMID:26392352|PMID:28492532
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1603206 D RGD:8554872 20200728 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603206 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303132 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9004930 Spinal Muscular Atrophy, Facioscapulohumeral Type ISO RGD:1603206 D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, facioscapulohumeral type
1303133 Pgpep1 pyroglutamyl-peptidase I gene DOID:10283 prostate cancer ISO RGD:1348411 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
1303133 Pgpep1 pyroglutamyl-peptidase I gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1348411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532
1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1601775 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532
1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:0111364 Alzheimer's disease 9 ISO RGD:1601775 D RGD:11554173 20190514 CTD CTD Direct Evidence: marker/mechanism
1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:0111364 Alzheimer's disease 9 ISO RGD:1601775 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, LATE-ONSET | ClinVar Annotator: match by term: Alzheimer disease 9 PMID:25741868|PMID:25807283|PMID:26141617|PMID:27066581|PMID:28097223|PMID:28492532|PMID:28789839|PMID:36133075
1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:0111364 Alzheimer's disease 9 susceptibility ISO RGD:1601775 D RGD:7240710 20190502 OMIM
1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:10652 Alzheimer's disease ISO RGD:1601775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21460840|PMID:25807283
1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:10652 Alzheimer's disease ISO RGD:1601775 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868|PMID:25807283|PMID:26141617|PMID:27066581|PMID:28097223|PMID:28492532|PMID:36133075
1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1601775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868
1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1601775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532
1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:440 neuromuscular disease ISO RGD:1601775 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:25741868|PMID:28492532
1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:5339 cyclic hematopoiesis ISO RGD:1601775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532
1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:9000918 Disease Progression ISO RGD:1601775 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766
1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:9006836 Contracture ISO RGD:1601775 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Contractures PMID:25741868
1303134 Abca7 ATP binding cassette subfamily A member 7 gene DOID:9255 frontotemporal dementia ISO RGD:1601775 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26101835|PMID:28097223|PMID:28400126|PMID:28789839|PMID:30924900|PMID:31836585
1303135 Npc1l1 NPC1 like intracellular cholesterol transporter 1 gene DOID:2349 arteriosclerosis ISO RGD:1615659 D RGD:1642183|PMID:17218600 20070906 RGD
1303135 Npc1l1 NPC1 like intracellular cholesterol transporter 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345181 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1303135 Npc1l1 NPC1 like intracellular cholesterol transporter 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1615659 D RGD:1642184|PMID:15671032 20070906 RGD
1303135 Npc1l1 NPC1 like intracellular cholesterol transporter 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1642185|PMID:17292734 20070906 RGD mRNA:increased expression:intestine, liver
1303136 Ddx19a DEAD-box helicase 19A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349788 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532
1303136 Ddx19a DEAD-box helicase 19A gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1349788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532
1303136 Ddx19a DEAD-box helicase 19A gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1349788 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868
1303137 Vwa7 von Willebrand factor A domain containing 7 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1342662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1606832 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:28492532
1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1606832 D RGD:1581314|PMID:16492908 19990101 RGD protein:decreased expression:prostate gland (human)
1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606832 D RGD:1581317|PMID:9743567 19990101 RGD protein:decreased expression:parietal cortex (human)
1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1550885 D RGD:10043111|PMID:21898507 20150514 RGD mRNA:increased expression:liver:
1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:13580 cholestasis ISO RGD:1550885 D RGD:10043111|PMID:21898507 20150514 RGD mRNA:increased expression:liver:
1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:13608 biliary atresia disease_progression ISO RGD:1606832 D RGD:10043111|PMID:21898507 20150514 RGD mRNA,protein:increased expression:liver:
1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:1612 breast cancer severity ISO RGD:1606832 D RGD:1581315|PMID:14734471 19990101 RGD mRNA:decreased expression:breast (human)
1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:1697 ichthyosis ISO RGD:1550885 D RGD:10043094|PMID:18832587 20150513 RGD
1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1606832 D RGD:1581316|PMID:11948120 19990101 RGD protein:decreased expression:ovarian epithelium (human)
1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:2717 Bloom syndrome ISO RGD:1606832 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:5082 liver cirrhosis IEP D RGD:10043112|PMID:15086199 20150519 RGD mRNA:increased expression:spleen:
1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:5517 stomach carcinoma severity ISO RGD:1606832 D RGD:1581312|PMID:16273651 19990101 RGD mRNA:decreased expression:stomach (human)
1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606832 D RGD:1581311|PMID:16820046 19990101 RGD mRNA:decreased expression:colon (human)
1303138 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:9256 colorectal cancer ISO RGD:1606832 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
1303139 Rnf114 ring finger protein 114 gene DOID:12336 male infertility ISO RGD:1349716 D RGD:1303956|PMID:12621547 19990101 RGD mRNA:decreased expression:testes (human)
1303139 Rnf114 ring finger protein 114 gene DOID:8893 psoriasis ISO RGD:1349716 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20953190
1303140 Rilpl2 Rab interacting lysosomal protein-like 2 gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:1606943 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:28492532
1303141 Phactr2 phosphatase and actin regulator 2 gene DOID:0080600 COVID-19 ISO RGD:1344472 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672
1303141 Phactr2 phosphatase and actin regulator 2 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1344472 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532
1303141 Phactr2 phosphatase and actin regulator 2 gene DOID:10652 Alzheimer's disease ISO RGD:1344472 D RGD:6483097|PMID:20590401 20120515 RGD mRNA: splice variants
1303141 Phactr2 phosphatase and actin regulator 2 gene DOID:14330 Parkinson's disease ISO RGD:1344472 D RGD:6483095|PMID:19429005 20120515 RGD DNA: snp: intron: rs11155313
1303141 Phactr2 phosphatase and actin regulator 2 gene DOID:2377 multiple sclerosis ISO RGD:1344472 D RGD:6483093|PMID:20546594 20120515 RGD DNA: snp: : rs1015340
1303142 Oser1 oxidative stress responsive serine-rich 1 gene DOID:2234 focal epilepsy ISO RGD:1350756 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362
1303142 Oser1 oxidative stress responsive serine-rich 1 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1350756 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:26255240|PMID:26376800|PMID:28492532
1303142 Oser1 oxidative stress responsive serine-rich 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532
1303143 Arhgap8 Rho GTPase activating protein 8 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606315 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome
1303143 Arhgap8 Rho GTPase activating protein 8 gene DOID:1059 intellectual disability ISO RGD:1606315 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1303144 Ak8 adenylate kinase 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350831 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532
1303144 Ak8 adenylate kinase 8 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532
1303144 Ak8 adenylate kinase 8 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350831 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532
1303144 Ak8 adenylate kinase 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532
1303144 Ak8 adenylate kinase 8 gene DOID:0081097 Rafiq syndrome ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532
1303144 Ak8 adenylate kinase 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350831 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532
1303144 Ak8 adenylate kinase 8 gene DOID:10908 hydrocephalus ISS RGD:1332480 D RGD:13592920 20180518 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219
1303144 Ak8 adenylate kinase 8 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1350831 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532
1303144 Ak8 adenylate kinase 8 gene DOID:3652 Leigh disease ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532
1303146 Cacybp calcyclin binding protein gene DOID:1540 parathyroid carcinoma ISO RGD:1346732 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1303146 Cacybp calcyclin binding protein gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1346732 D RGD:2326146|PMID:18765951 20100625 RGD mRNA, protein:increased expression:pancreas
1303146 Cacybp calcyclin binding protein gene DOID:3755 antithrombin III deficiency ISO RGD:1346732 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency
1303146 Cacybp calcyclin binding protein gene DOID:5844 myocardial infarction IEP D RGD:2326117|PMID:16440310 20100624 RGD mRNA:increased expression:heart
1303146 Cacybp calcyclin binding protein gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346732 D RGD:2326146|PMID:18765951 20100625 RGD associated with pancreatic neoplasms
1303146 Cacybp calcyclin binding protein gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1346732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682
1303146 Cacybp calcyclin binding protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346732 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835
1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1350777 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835
1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:11198 DiGeorge syndrome ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:25516202|PMID:28492532
1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:12583 velocardiofacial syndrome ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868
1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:12849 autistic disorder ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:1588 thrombocytopenia ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10887115|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501
1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:2213 hemorrhagic disease ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749
1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1350777 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: GP1BB-related condition PMID:10887115|PMID:17109744|PMID:18414213|PMID:19548962|PMID:24685245|PMID:25370924|PMID:25741868|PMID:28492532|PMID:28561420|PMID:28983057|PMID:31064749|PMID:32581362|PMID:33216977|PMID:34355501|PMID:36519321|PMID:37160415
1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:5419 schizophrenia ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1303147 Wfdc21 WAP four-disulfide core domain 21 gene DOID:9006593 Bernard-Soulier Syndrome, Type B ISO RGD:1350777 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type PMID:10887115|PMID:18414213|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501|PMID:7633430|PMID:8703016|PMID:9116284
1303148 ST7 suppression of tumorigenicity 7 gene DOID:1485 cystic fibrosis ISO RGD:1343912 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:11781704|PMID:15520400|PMID:1695717|PMID:28492532|PMID:7691345|PMID:9725922
1303148 ST7 suppression of tumorigenicity 7 gene DOID:4450 renal cell carcinoma ISO RGD:1343912 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532
1303148 ST7 suppression of tumorigenicity 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343912 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1303148 ST7 suppression of tumorigenicity 7 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1343912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532
1303148 ST7 suppression of tumorigenicity 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1343912 D RGD:8554872 20150408 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065
1303149 Krt85 keratin 85 gene DOID:0111658 ectodermal dysplasia 4 ISO RGD:1350889 D RGD:7240710 20130807 OMIM
1303149 Krt85 keratin 85 gene DOID:0111658 ectodermal dysplasia 4 ISO RGD:1350889 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type | ClinVar Annotator: match by term: KRT85-related condition PMID:16525032|PMID:19865094|PMID:24033266|PMID:25741868|PMID:28492532
1303150 Rab21 RAB21, member RAS oncogene family gene DOID:9970 obesity ISO RGD:1350890 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29273807
1303151 Adipor1 adiponectin receptor 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1344545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532
1303151 Adipor1 adiponectin receptor 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1344545 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:26662040|PMID:27655171
1303151 Adipor1 adiponectin receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344545 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1303151 Adipor1 adiponectin receptor 1 gene DOID:1612 breast cancer ISO RGD:1344545 D RGD:8694415|PMID:18451143 20140805 RGD DNA:SNPs: :rs7539542 (human)
1303151 Adipor1 adiponectin receptor 1 gene DOID:1612 breast cancer no_association ISO RGD:1344545 D RGD:8694417|PMID:19723917 20140805 RGD
1303151 Adipor1 adiponectin receptor 1 gene DOID:2018 hyperinsulinism IEP D RGD:1625765|PMID:16326833 20070629 RGD mRNA:decreased expression:skeletal muscle cell
1303151 Adipor1 adiponectin receptor 1 gene DOID:2526 prostate adenocarcinoma susceptibility ISO RGD:1344545 D RGD:8694410|PMID:21397927 20140805 RGD DNA:SNPs, haplotype:intron, exon: (rs12733285, rs7539452) (human)
1303151 Adipor1 adiponectin receptor 1 gene DOID:4195 hyperglycemia IEP D RGD:1625765|PMID:16326833 20070629 RGD mRNA:decreased expression:skeletal muscle cell
1303151 Adipor1 adiponectin receptor 1 gene DOID:4448 macular degeneration ISO RGD:1344545 D RGD:8694465|PMID:22387454 20140805 RGD DNA:SNP:intron:c.-95+191A>G (rs10753929) (human)
1303151 Adipor1 adiponectin receptor 1 gene DOID:5844 myocardial infarction ISO RGD:1332010 D RGD:1625764|PMID:16415076 20070629 RGD mRNA, protein:decreased expression:heart left ventricle
1303151 Adipor1 adiponectin receptor 1 gene DOID:783 end stage renal disease IEP D RGD:8695941|PMID:24028144 20140806 RGD
1303151 Adipor1 adiponectin receptor 1 gene DOID:783 end stage renal disease ISO RGD:1344545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19539174
1303151 Adipor1 adiponectin receptor 1 gene DOID:8501 fundus dystrophy ISO RGD:1344545 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:33523960
1303151 Adipor1 adiponectin receptor 1 gene DOID:9002231 Fetal Growth Retardation treatment IEP D RGD:8695947|PMID:23533720 20140806 RGD
1303151 Adipor1 adiponectin receptor 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1344545 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532
1303151 Adipor1 adiponectin receptor 1 gene DOID:9006945 Diabetic Cardiomyopathies IEP D RGD:8695938|PMID:24669271 20140806 RGD associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum
1303151 Adipor1 adiponectin receptor 1 gene DOID:9007456 Female Infertility ISO RGD:1344545 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22265003
1303151 Adipor1 adiponectin receptor 1 gene DOID:9007692 Insulin Resistance resistance ISO RGD:1344545 D RGD:1625762|PMID:17285539 20070629 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C
1303151 Adipor1 adiponectin receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344545 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1303151 Adipor1 adiponectin receptor 1 gene DOID:9970 obesity IEP D RGD:1625763|PMID:16483885 20070629 RGD mRNA:increased expression:liver
1303151 Adipor1 adiponectin receptor 1 gene DOID:9970 obesity ISO RGD:1344545 D RGD:1625761|PMID:17391161 20070629 RGD mRNA:decreased expression:lymphocyte
1303152 Enc1 ectodermal-neural cortex 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352868 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1303152 Enc1 ectodermal-neural cortex 1 gene DOID:9003926 Sandhoff Disease, Infantile Type ISO RGD:1352868 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Sandhoff disease, infantile type PMID:7633435
1303152 Enc1 ectodermal-neural cortex 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352868 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303153 Or12d17 olfactory receptor family 12 subfamily D member 17 gene DOID:11372 megacolon ISO RGD:1352207 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303155 Oxgr1 oxoglutarate receptor 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1346637 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992
1303155 Oxgr1 oxoglutarate receptor 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1346637 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835
1303155 Oxgr1 oxoglutarate receptor 1 gene DOID:9004712 Calcium Oxalate Nephrolithiasis 2 with Nephrocalcinosis ISO RGD:1346637 D RGD:7240710 20230531 OMIM
1303155 Oxgr1 oxoglutarate receptor 1 gene DOID:9004712 Calcium Oxalate Nephrolithiasis 2 with Nephrocalcinosis ISO RGD:1346637 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis PMID:25741868|PMID:36571463
1303155 Oxgr1 oxoglutarate receptor 1 gene DOID:9008821 Otitis Media with Effusion ISO RGD:1550957 D RGD:7775025|PMID:23200873 20131230 RGD
1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758
1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1353727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532
1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532
1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532
1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532
1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353727 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532
1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532
1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612
1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1353727 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532
1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:1826 epilepsy ISO RGD:1353727 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy
1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:3652 Leigh disease ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532
1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1303156 Npdc1 neural proliferation, differentiation and control, 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532
1303158 Hsd17b8 hydroxysteroid (17-beta) dehydrogenase 8 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1351353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303158 Hsd17b8 hydroxysteroid (17-beta) dehydrogenase 8 gene DOID:0060009 MHC class I deficiency ISO RGD:1351353 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: MHC class I deficiency PMID:28492532
1303158 Hsd17b8 hydroxysteroid (17-beta) dehydrogenase 8 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1351353 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532
1303159 Maip1 matrix AAA peptidase interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603199 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303160 Arhgap20 Rho GTPase activating protein 20 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1350363 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868
1303160 Arhgap20 Rho GTPase activating protein 20 gene DOID:10283 prostate cancer ISO RGD:1350363 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
1303160 Arhgap20 Rho GTPase activating protein 20 gene DOID:1059 intellectual disability ISO RGD:1350363 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1303160 Arhgap20 Rho GTPase activating protein 20 gene DOID:12704 ataxia telangiectasia ISO RGD:1350363 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532
1303161 St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1605541 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868
1303161 St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:0080600 COVID-19 ISO RGD:1605541 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1303161 St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:10283 prostate cancer ISO RGD:1605541 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
1303161 St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1605541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532
1303162 Ltb lymphotoxin beta gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303162 Ltb lymphotoxin beta gene DOID:11372 megacolon ISO RGD:1353964 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303162 Ltb lymphotoxin beta gene DOID:2773 contact dermatitis ISO RGD:1551006 D RGD:8548819|PMID:11390430 20140320 RGD
1303162 Ltb lymphotoxin beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353964 D RGD:11554173 20170328 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1303162 Ltb lymphotoxin beta gene DOID:9111 cutaneous leishmaniasis ISO RGD:1551006 D RGD:8548820|PMID:17911622 20140320 RGD
1303162 Ltb lymphotoxin beta gene DOID:9146 visceral leishmaniasis ISO RGD:1551006 D RGD:8548822|PMID:12115620 20140320 RGD
1303163 Ppp1r11 protein phosphatase 1, regulatory (inhibitor) subunit 11 gene DOID:11372 megacolon ISO RGD:1350582 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1351609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:0112342 hereditary spastic paraplegia 86 ISO RGD:1351609 D RGD:7240710 20220223 OMIM
1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:0112342 hereditary spastic paraplegia 86 ISO RGD:1351609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 86, autosomal recessive PMID:25741868|PMID:34587489|PMID:34866177
1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:11372 megacolon ISO RGD:1351609 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1351609 D RGD:8554872 20211019 ClinVar ClinVar Annotator: match by term: Complex hereditary spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868
1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:607 paraplegia ISO RGD:1351609 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:34587489
1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:630 genetic disease ISO RGD:1351609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
1303164 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351609 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303167 Slc44a4 solute carrier family 44, member 4 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1349303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303167 Slc44a4 solute carrier family 44, member 4 gene DOID:0080268 autosomal dominant nonsyndromic deafness 72 ISO RGD:1349303 D RGD:7240710 20190315 OMIM
1303167 Slc44a4 solute carrier family 44, member 4 gene DOID:0080268 autosomal dominant nonsyndromic deafness 72 ISO RGD:1349303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition PMID:25741868|PMID:28013291|PMID:28492532
1303169 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1322028 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
1303169 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:0081438 Peroxisome biogenesis disorder 9B ISO RGD:1322028 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:12325024|PMID:12522768|PMID:20301447|PMID:28492532
1303169 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:0111955 immunodeficiency 27A ISO RGD:1322028 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532
1303169 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1322028 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376
1303169 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1322028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040
1303169 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1322028 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868
1303170 Jph4 junctophilin 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1315305 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532
1303170 Jph4 junctophilin 4 gene DOID:0080600 COVID-19 ISO RGD:1315305 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1303170 Jph4 junctophilin 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1315305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532
1303170 Jph4 junctophilin 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315305 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868
1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:0060294 cold-induced sweating syndrome ISO RGD:1606817 D RGD:11554173 20180809 CTD CTD Direct Evidence: marker/mechanism
1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:0080330 cold-induced sweating syndrome 2 ISO RGD:1606817 D RGD:7240710 20170315 OMIM
1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:0080330 cold-induced sweating syndrome 2 ISO RGD:1606817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 PMID:16782820|PMID:20400119|PMID:25741868
1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:0080600 COVID-19 ISO RGD:1606817 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:1059 intellectual disability ISO RGD:1606817 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1606817 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:decreased expression:lung (human)
1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532
1303171 Clcf1 cardiotrophin-like cytokine factor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532
1303172 Fancd2 FA complementation group D2 gene DOID:0060474 familial erythrocytosis 2 ISO RGD:1343234 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:10830910|PMID:17537157|PMID:19280651|PMID:19764026|PMID:20567917|PMID:28492532|PMID:8634692
1303172 Fancd2 FA complementation group D2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1343234 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500
1303172 Fancd2 FA complementation group D2 gene DOID:0111083 Fanconi anemia complementation group D2 ISO RGD:1343234 D RGD:7240710 20130425 OMIM
1303172 Fancd2 FA complementation group D2 gene DOID:0111083 Fanconi anemia complementation group D2 ISO RGD:1343234 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D | ClinVar Annotator: match by term: Fanconi anemia complementation group D2 PMID:11239453|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25168418|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:27041517|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30256826|PMID:30306255|PMID:30633423|PMID:30716324|PMID:31586946|PMID:32546565|PMID:32581362|PMID:32659967|PMID:32867815|PMID:33558524|PMID:34308104|PMID:34327028|PMID:34585473|PMID:36463940|PMID:38502138|PMID:9536098
1303172 Fancd2 FA complementation group D2 gene DOID:0111083 Fanconi anemia complementation group D2 ISS RGD:1615723 D RGD:13592920 20230718 MouseDO OMIM:227646
1303172 Fancd2 FA complementation group D2 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:24728327|PMID:25168418|PMID:25741868|PMID:25927356|PMID:28492532
1303172 Fancd2 FA complementation group D2 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532
1303172 Fancd2 FA complementation group D2 gene DOID:10629 microphthalmia ISO RGD:1615723 D RGD:11344906|PMID:12893777 20160708 RGD
1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:11344904|PMID:19287902 20160707 RGD
1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14667412
1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:1601137|PMID:11239453 20070409 RGD DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:21356188|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25927356|PMID:26633542|PMID:27041517|PMID:28492532|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30713837|PMID:31586946|PMID:33558524|PMID:9536098
1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:9536098
1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:9536098
1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:34585473|PMID:9536098
1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:30716324|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:34585473|PMID:9536098
1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17096012|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:22829014|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:30716324|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33270637|PMID:33558524|PMID:34327028|PMID:34585473|PMID:9536098
1303172 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17096012|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:22829014|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30633423|PMID:30713837|PMID:30716324|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33270637|PMID:33558524|PMID:34308104|PMID:34327028|PMID:34585473|PMID:36463940|PMID:38502138|PMID:9536098
1303172 Fancd2 FA complementation group D2 gene DOID:1612 breast cancer ISO RGD:1343234 D RGD:10769361|PMID:23897704 20160210 RGD
1303172 Fancd2 FA complementation group D2 gene DOID:1612 breast cancer ISO RGD:1343234 D RGD:11344909|PMID:16679306 20160708 RGD DNA:SNP, haplotype: :rs2272125 (human)
1303172 Fancd2 FA complementation group D2 gene DOID:1612 breast cancer ISO RGD:1343234 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:24728327|PMID:25741868|PMID:28492532|PMID:33558524
1303172 Fancd2 FA complementation group D2 gene DOID:2394 ovarian cancer ISO RGD:1343234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532
1303172 Fancd2 FA complementation group D2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1615723 D RGD:11344907|PMID:20935219 20160708 RGD
1303172 Fancd2 FA complementation group D2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17436244|PMID:21356188|PMID:24728327|PMID:25741868|PMID:28492532
1303172 Fancd2 FA complementation group D2 gene DOID:630 genetic disease ISO RGD:1343234 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11239453|PMID:17436244|PMID:25741868|PMID:28492532|PMID:36463940
1303172 Fancd2 FA complementation group D2 gene DOID:684 hepatocellular carcinoma ISO RGD:1343234 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560
1303172 Fancd2 FA complementation group D2 gene DOID:687 hepatoblastoma ISO RGD:1343234 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532|PMID:28678401|PMID:30306255
1303172 Fancd2 FA complementation group D2 gene DOID:8923 skin melanoma ISO RGD:1343234 D RGD:11046262|PMID:21697891 20160404 RGD mRNA,protein:increased expression:skin,nucleus:
1303172 Fancd2 FA complementation group D2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1343234 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868
1303172 Fancd2 FA complementation group D2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343234 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303172 Fancd2 FA complementation group D2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1343234 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy PMID:25865495|PMID:28492532|PMID:31401500
1303172 Fancd2 FA complementation group D2 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532
1303172 Fancd2 FA complementation group D2 gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1615723 D RGD:11344906|PMID:12893777 20160708 RGD
1303172 Fancd2 FA complementation group D2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343234 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer PMID:25741868
1303172 Fancd2 FA complementation group D2 gene DOID:9008086 Developmental Disabilities ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25927356|PMID:28492532
1303172 Fancd2 FA complementation group D2 gene DOID:9008539 Perinatal Death ISO RGD:1615723 D RGD:11344906|PMID:12893777 20160708 RGD
1303172 Fancd2 FA complementation group D2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1343234 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532
1303172 Fancd2 FA complementation group D2 gene DOID:9119 acute myeloid leukemia ISO RGD:1343234 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:17436244|PMID:23613520|PMID:25741868|PMID:28492532
1303173 Ube4a ubiquitination factor E4A gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
1303173 Ube4a ubiquitination factor E4A gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532
1303173 Ube4a ubiquitination factor E4A gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1351066 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868
1303173 Ube4a ubiquitination factor E4A gene DOID:0080690 RASopathy ISO RGD:1351066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532
1303173 Ube4a ubiquitination factor E4A gene DOID:0081330 glycogen storage disease Ib ISO RGD:1351066 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532
1303173 Ube4a ubiquitination factor E4A gene DOID:0110651 long QT syndrome 10 ISO RGD:1351066 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532
1303173 Ube4a ubiquitination factor E4A gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
1303173 Ube4a ubiquitination factor E4A gene DOID:0111971 immunodeficiency 18 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
1303173 Ube4a ubiquitination factor E4A gene DOID:0111972 immunodeficiency 19 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
1303173 Ube4a ubiquitination factor E4A gene DOID:0111973 immunodeficiency 17 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
1303173 Ube4a ubiquitination factor E4A gene DOID:1059 intellectual disability ISO RGD:1351066 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1303173 Ube4a ubiquitination factor E4A gene DOID:630 genetic disease ISO RGD:1351066 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
1303173 Ube4a ubiquitination factor E4A gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:1351066 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 PMID:28492532
1303173 Ube4a ubiquitination factor E4A gene DOID:9004263 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY ISO RGD:1351066 D RGD:7240710 20220216 OMIM
1303173 Ube4a ubiquitination factor E4A gene DOID:9004263 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY ISO RGD:1351066 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay | ClinVar Annotator: match by term: UBE4A-related condition PMID:25741868|PMID:27431290|PMID:33420346
1303173 Ube4a ubiquitination factor E4A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303173 Ube4a ubiquitination factor E4A gene DOID:9007661 Dwarfism ISO RGD:1351066 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362
1303174 Ppid peptidylprolyl isomerase D gene DOID:11372 megacolon ISO RGD:1342741 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303174 Ppid peptidylprolyl isomerase D gene DOID:2316 brain ischemia ISO RGD:1553037 D RGD:1580699|PMID:16103352 19990101 RGD
1303175 Nmt2 N-myristoyltransferase 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1349505 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868
1303175 Nmt2 N-myristoyltransferase 2 gene DOID:5119 ovarian cyst ISO RGD:1349505 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21239663
1303176 Tspan5 tetraspanin 5 gene DOID:10283 prostate cancer ISO RGD:1602132 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
1303177 Top1mt DNA topoisomerase I mitochondrial gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1351494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526
1303177 Top1mt DNA topoisomerase I mitochondrial gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1351494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526
1303177 Top1mt DNA topoisomerase I mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1351494 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868
1303177 Top1mt DNA topoisomerase I mitochondrial gene DOID:4621 holoprosencephaly ISO RGD:1351494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532
1303177 Top1mt DNA topoisomerase I mitochondrial gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:1351494 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835
1303178 Nanog Nanog homeobox gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532
1303178 Nanog Nanog homeobox gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1347686 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896
1303178 Nanog Nanog homeobox gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1347686 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532
1303178 Nanog Nanog homeobox gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1347686 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896
1303178 Nanog Nanog homeobox gene DOID:0111621 Temtamy syndrome ISO RGD:1347686 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532
1303178 Nanog Nanog homeobox gene DOID:14330 Parkinson's disease treatment ISO RGD:1553059 D RGD:9681444|PMID:24954161 20141126 RGD mouse gene in a rat model;mRNA, protein:increased expression:embryonic stem cell
1303178 Nanog Nanog homeobox gene DOID:219 colon cancer treatment IDA D RGD:7240527|PMID:22641368 20141126 RGD
1303178 Nanog Nanog homeobox gene DOID:3307 teratoma severity ISO RGD:1553059 D RGD:9681441|PMID:20817694 20141126 RGD mouse gene in a rat Myocardial Infarction model;protein:decreased expression:embryonic stem cell
1303178 Nanog Nanog homeobox gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1347686 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16168501
1303178 Nanog Nanog homeobox gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1347686 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:29626521
1303178 Nanog Nanog homeobox gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347686 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098
1303179 Bpi bactericidal/permeability-increasing protein gene DOID:2234 focal epilepsy ISO RGD:1352137 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362
1303179 Bpi bactericidal/permeability-increasing protein gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1352137 D RGD:5490168|PMID:19635508 20200527 RGD mRNA:increased expression:lung (human)
1303179 Bpi bactericidal/permeability-increasing protein gene DOID:8778 Crohn's disease ISO RGD:1352137 D RGD:1580079|PMID:15758620 19990101 RGD
1303180 Sfta2 surfactant associated 2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347220 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303180 Sfta2 surfactant associated 2 gene DOID:11372 megacolon ISO RGD:1347220 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303181 Krt17 keratin 17 gene DOID:0050449 pachyonychia congenita ISO RGD:1353171 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism
1303181 Krt17 keratin 17 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1353171 D RGD:8554872 20190514 ClinVar ClinVar Annotator: match by term: Anonychia PMID:25741868
1303181 Krt17 keratin 17 gene DOID:0111556 steatocystoma multiplex ISO RGD:1353171 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303181 Krt17 keratin 17 gene DOID:0111556 steatocystoma multiplex ISO RGD:1353171 D RGD:7240710 20130221 OMIM
1303181 Krt17 keratin 17 gene DOID:0111556 steatocystoma multiplex ISO RGD:1353171 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Multiple sebaceous cysts | ClinVar Annotator: match by term: Steatocystoma multiplex PMID:11809119|PMID:11886499|PMID:14714564|PMID:19470054|PMID:22336949|PMID:2248894|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:29784039|PMID:31823354|PMID:9008238|PMID:9767294
1303181 Krt17 keratin 17 gene DOID:2121 ectodermal dysplasia susceptibility ISO RGD:1353171 D RGD:1600184|PMID:7539673 20070301 RGD protein:mutation: ; N92D; pachyonychia congenita, OMIM:167210
1303181 Krt17 keratin 17 gene DOID:2513 basal cell carcinoma ISO RGD:1353171 D RGD:11554173 20240604 CTD CTD Direct Evidence: marker/mechanism PMID:20871598|PMID:36428691
1303181 Krt17 keratin 17 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353171 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111
1303181 Krt17 keratin 17 gene DOID:630 genetic disease ISO RGD:1353171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
1303181 Krt17 keratin 17 gene DOID:9001341 Chloracne ISO RGD:1353171 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21237254
1303181 Krt17 keratin 17 gene DOID:9004213 Pachyonychia Congenita 2 ISO RGD:1353171 D RGD:7240710 20190327 OMIM
1303181 Krt17 keratin 17 gene DOID:9004213 Pachyonychia Congenita 2 ISO RGD:1353171 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: KRT17-related condition | ClinVar Annotator: match by term: Pachyonychia congenita 2 PMID:10571744|PMID:11348474|PMID:11809119|PMID:11874497|PMID:11886499|PMID:14714564|PMID:17576681|PMID:19120334|PMID:19470054|PMID:22336949|PMID:2248894|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:29784039|PMID:31823354|PMID:3954955|PMID:7529318|PMID:7539673|PMID:9008238|PMID:9536098|PMID:9767294
1303181 Krt17 keratin 17 gene DOID:9004464 Skin Neoplasms ISO RGD:1353171 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26168014
1303181 Krt17 keratin 17 gene DOID:9008109 Sebocystomatosis ISO RGD:1353171 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Sebocystomatosis PMID:22336949|PMID:2248894|PMID:25741868|PMID:28492532|PMID:31823354|PMID:9008238|PMID:9767294
1303182 Dctn2 dynactin subunit 2 gene DOID:0050890 synucleinopathy IEP D RGD:11049591|PMID:19295143 20170726 RGD
1303182 Dctn2 dynactin subunit 2 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1352908 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532
1303182 Dctn2 dynactin subunit 2 gene DOID:0110251 cataract 15 multiple types ISO RGD:1352908 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Cataract 15 multiple types PMID:28492532
1303182 Dctn2 dynactin subunit 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352908 D RGD:8554872 20160112 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:26517670
1303182 Dctn2 dynactin subunit 2 gene DOID:607 paraplegia ISO RGD:1352908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532
1303182 Dctn2 dynactin subunit 2 gene DOID:6846 familial melanoma ISO RGD:1352908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532
1303182 Dctn2 dynactin subunit 2 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1352908 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532
1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:10485 esophageal atresia ISO RGD:1346963 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Esophageal atresia
1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:1059 intellectual disability ISO RGD:1346963 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:1909 melanoma ISO RGD:1346963 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842
1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268
1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:2746 glycogen storage disease V ISO RGD:1346963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268
1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:8552 chronic myeloid leukemia ISS RGD:1553084 D RGD:13592920 20180518 MouseDO OMIM:608232
1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:9001161 Autoinflammatory Disease, Familial, Behcet-Like-3 ISO RGD:1346963 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic PMID:25741868|PMID:28492532|PMID:28600438|PMID:36926348
1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346963 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532
1303184 Sipa1 signal-induced proliferation-associated 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438
1303185 Tfap2c transcription factor AP-2 gamma gene DOID:10907 microcephaly ISO RGD:1346626 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868
1303185 Tfap2c transcription factor AP-2 gamma gene DOID:9000217 Stomach Neoplasms ISO RGD:1346626 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923
1303186 Atp6v1g2 ATPase H+ transporting V1 subunit G2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303186 Atp6v1g2 ATPase H+ transporting V1 subunit G2 gene DOID:11372 megacolon ISO RGD:1347481 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:0050700 cardiomyopathy ISO RGD:1353173 D RGD:11053274|PMID:26098115 20231030 RGD protein:increased expression:heart (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1353173 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:0081292 traumatic brain injury treatment ISO RGD:1615702 D RGD:401901253|PMID:36571365 20231206 RGD
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:0112206 developmental and epileptic encephalopathy 70 ISO RGD:1353173 D RGD:7240710 20190315 OMIM
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:0112206 developmental and epileptic encephalopathy 70 ISO RGD:1353173 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70 | ClinVar Annotator: match by term: PHACTR1-related condition PMID:23033978|PMID:25741868|PMID:30256902|PMID:33463715
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:10825 essential hypertension susceptibility ISO RGD:1353173 D RGD:401900745|PMID:34758666 20231120 RGD DNA:SNP::g.12903725A>G (rs9349379) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:12783 migraine without aura ISO RGD:1353173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22683712
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:13099 Moyamoya disease disease_progression ISO RGD:1353173 D RGD:401900691|PMID:32411507 20231115 RGD DNA:missense mutation:CDS:c.13185159G>T (p.V265L) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:1936 atherosclerosis exacerbates ISO RGD:1353173 D RGD:401900131|PMID:36091033 20231107 RGD mRNA:increased expression:carotid artery (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease ISO RGD:1353173 D RGD:11554173 20220308 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:22751097|PMID:26098115|PMID:34961328
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease ISO RGD:1353173 D RGD:401901251|PMID:31499127 20231206 RGD DNA:hypermethylation, hypomethylation:promoter, exon: (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease sexual_dimorphism ISO RGD:1353173 D RGD:401851919|PMID:30777881 20231031 RGD DNA:SNP:intron:g.12903725A>G (rs9349379) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1353173 D RGD:401900135|PMID:27517945 20231107 RGD DNA:SNP:intron:g.12903957A>G (rs9349379) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1353173 D RGD:401900687|PMID:29784573 20231115 RGD associated with familial hypercholesterolemia;DNA:SNP:intron: (rs12526453) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1353173 D RGD:401900688|PMID:27893421 20231115 RGD DNA:SNPs:intron: (rs9381439, rs9349379) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1353173 D RGD:401901243|PMID:27066539 20231206 RGD DNA:SNP:exon: (rs4714955) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:3526 cerebral infarction ISO RGD:1353173 D RGD:401900685|PMID:23042660 20231115 RGD DNA:SNP:intron: (rs12526453) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:4248 coronary stenosis susceptibility ISO RGD:1353173 D RGD:401900726|PMID:22745674 20231116 RGD DNA:SNP::g.13011943A>G (rs9349379) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:5419 schizophrenia ISO RGD:1353173 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction IEP D RGD:11053274|PMID:26098115 20231030 RGD mRNA, protein:decreased expression:heart left ventricle (rat)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction ISO RGD:1353173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19198609|PMID:26098115
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction ISO RGD:1353173 D RGD:401900171|PMID:33460763 20231108 RGD mRNA:increased expression:peripheral blood mononuclear cells (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction no_association ISO RGD:1353173 D RGD:401900171|PMID:33460763 20231108 RGD DNA:SNPs:intron 3: (rs9349379, rs2026458, rs2876300) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction severity ISO RGD:1353173 D RGD:11056926|PMID:26086777 20231115 RGD DNA:SNP:intron:(rs12526453) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1353173 D RGD:11052493|PMID:25838425 20231115 RGD DNA:SNPs:multiple (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1353173 D RGD:11052994|PMID:25738804 20231116 RGD DNA:SNP:intron: (rs9369640) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1353173 D RGD:401851907|PMID:19198609 20231030 RGD DNA:SNP:intron:g.13035530G>C (rs12526453) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:6364 migraine ISO RGD:1353173 D RGD:401901172|PMID:28957430 20231130 RGD DNA:SNP:intron:g.13011943 (rs9349379) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:6364 migraine ISO RGD:1353173 D RGD:401901243|PMID:27066539 20231206 RGD DNA:SNP:intron:g.13011943 (rs9349379) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1353173 D RGD:401900728|PMID:31980275 20231116 RGD mRNA:decreased expression:carotid artery segment (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9000528 Coronary Disease no_association ISO RGD:1353173 D RGD:401901081|PMID:28287809 20231128 RGD DNA:SNP:intron 3: (rs12526453) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1353173 D RGD:11055500|PMID:22152955 20231205 RGD associated with type 2 diabetes mellitus;DNA:SNP:intron: (rs12526453) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9001528 ARTERIAL DISSECTION susceptibility ISO RGD:1353173 D RGD:401900170|PMID:25420145 20231108 RGD DNA:SNP:intron:g.13,011,943 >G (rs9349379) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9001686 Acute Coronary Syndrome exacerbates ISO RGD:1353173 D RGD:401900689|PMID:32857129 20231115 RGD protein:increased expression:monocyte (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9001829 Cerebrovascular Trauma ISO RGD:1353173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25420145
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9003785 Fibromuscular Dysplasia susceptibility ISO RGD:1353173 D RGD:401900294|PMID:27792790 20231116 RGD DNA:SNPs:intron: (rs1332844, rs9369640, rs9349379) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9003785 Fibromuscular Dysplasia susceptibility ISO RGD:1353173 D RGD:401900690|PMID:32475314 20231115 RGD DNA:SNP:: (rs9349379) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353173 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9005332 Spontaneous Coronary Artery Dissection ISO RGD:1353173 D RGD:401900725|PMID:33319763 20231116 RGD DNA:SNP:exon: (rs9349379) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9005332 Spontaneous Coronary Artery Dissection ISO RGD:1353173 D RGD:401901175|PMID:32887874 20231130 RGD DNA:SNP:exon: (rs9349379) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9005332 Spontaneous Coronary Artery Dissection susceptibility ISO RGD:1353173 D RGD:401901252|PMID:32374345 20231206 RGD DNA:SNP:intron 3: (rs9349379) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9006778 Carotid Atherosclerosis severity ISO RGD:1353173 D RGD:401900133|PMID:31200082 20231107 RGD DNA:SNPs, haplotype:intron 3: (rs9349379, rs2026458, rs2876300) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9008778 Coronary Artery Calcification ISO RGD:1353173 D RGD:11054804|PMID:26789557 20231205 RGD DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9008778 Coronary Artery Calcification ISO RGD:1353173 D RGD:11057923|PMID:23561647 20231130 RGD DNA:SNP:intron: (rs12526453) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9008778 Coronary Artery Calcification ISO RGD:1353173 D RGD:11058683|PMID:23394302 20231031 RGD DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
1303187 Phactr1 phosphatase and actin regulator 1 gene DOID:9008778 Coronary Artery Calcification ISO RGD:1353173 D RGD:401901247|PMID:34241534 20231206 RGD associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)
1303188 Spink4 serine peptidase inhibitor, Kazal type 4 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ISO RGD:1342974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532
1303188 Spink4 serine peptidase inhibitor, Kazal type 4 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1342974 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532
1303188 Spink4 serine peptidase inhibitor, Kazal type 4 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1342974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532
1303188 Spink4 serine peptidase inhibitor, Kazal type 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342974 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532
1303188 Spink4 serine peptidase inhibitor, Kazal type 4 gene DOID:9870 galactosemia ISO RGD:1342974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532
1303190 Nox3 NADPH oxidase 3 gene DOID:0060424 chromosome 6q24-q25 deletion syndrome ISO RGD:1351952 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome PMID:25741868|PMID:38177409
1303190 Nox3 NADPH oxidase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351952 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475
1303191 Snupn snurportin 1 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1353124 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106
1303191 Snupn snurportin 1 gene DOID:0080519 PAPA syndrome ISO RGD:1353124 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial recurrent arthritis PMID:28492532
1303191 Snupn snurportin 1 gene DOID:1826 epilepsy ISO RGD:1353124 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy
1303191 Snupn snurportin 1 gene DOID:2717 Bloom syndrome ISO RGD:1353124 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
1303191 Snupn snurportin 1 gene DOID:5419 schizophrenia ISO RGD:1353124 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1303191 Snupn snurportin 1 gene DOID:9006407 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 29 ISO RGD:1353124 D RGD:7240710 20240731 OMIM
1303191 Snupn snurportin 1 gene DOID:9006407 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 29 ISO RGD:1353124 D RGD:8554872 20250128 ClinVar ClinVar Annotator: match by term: SNUPN deficiency muscular dystrophy PMID:25741868
1303191 Snupn snurportin 1 gene DOID:9256 colorectal cancer ISO RGD:1353124 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
1303192 Klk1c12 kallikrein 1-related peptidase C12 gene DOID:0050700 cardiomyopathy ISO RGD:1349866 D RGD:1641802|PMID:15117887 20070822 RGD associated with Diabetes Mellitus, Experimental
1303192 Klk1c12 kallikrein 1-related peptidase C12 gene DOID:10763 hypertension ISO RGD:1349866 D RGD:1641794|PMID:17272402 20070822 RGD
1303192 Klk1c12 kallikrein 1-related peptidase C12 gene DOID:10763 hypertension ISO RGD:1349866 D RGD:1641795|PMID:15905889 20070822 RGD DNA:polymorphisms
1303192 Klk1c12 kallikrein 1-related peptidase C12 gene DOID:5844 myocardial infarction ISO RGD:1349866 D RGD:1641799|PMID:17022964 20070822 RGD
1303192 Klk1c12 kallikrein 1-related peptidase C12 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349866 D RGD:1641794|PMID:17272402 20070822 RGD
1303192 Klk1c12 kallikrein 1-related peptidase C12 gene DOID:9003936 Cardiomegaly ISO RGD:1349866 D RGD:1641797|PMID:17137568 20070822 RGD
1303192 Klk1c12 kallikrein 1-related peptidase C12 gene DOID:9007692 Insulin Resistance ISO RGD:1349866 D RGD:1641794|PMID:17272402 20070822 RGD
1303194 Hyal4 hyaluronidase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347409 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1303195 Ddx56 DEAD-box helicase 56 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349129 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1303196 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354318 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935|PMID:34172529
1303196 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1354318 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935
1303196 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1354318 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:34172529
1303196 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1354318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532
1303196 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354318 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935|PMID:34172529
1303196 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1354318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532
1303196 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:543 dystonia ISO RGD:1354318 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:28492532
1303197 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1353728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526
1303197 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1353728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526
1303197 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:4621 holoprosencephaly ISO RGD:1353728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532
1303197 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:630 genetic disease ISO RGD:1353728 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:29100095|PMID:34703884|PMID:9536098
1303197 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:1353728 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835
1303197 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:9009067 Glycosylphosphatidylinositol Biosynthesis Defect 15 ISO RGD:1353728 D RGD:7240710 20190315 OMIM
1303197 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:9009067 Glycosylphosphatidylinositol Biosynthesis Defect 15 ISO RGD:1353728 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GPAA1-related condition | ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 15 PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29100095|PMID:32637629|PMID:34703884|PMID:9536098
1303198 Gcnt2 glucosaminyl (N-acetyl) transferase 2 gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1607088 D RGD:7240710 20170111 OMIM
1303198 Gcnt2 glucosaminyl (N-acetyl) transferase 2 gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1607088 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: ADULT i BLOOD GROUP PHENOTYPE | ClinVar Annotator: match by term: Adult i blood group with or without congenital cataract | ClinVar Annotator: match by term: Blood group, I system | ClinVar Annotator: match by term: Cataract 13 with adult I phenotype | ClinVar Annotator: match by term: GCNT2-related condition PMID:11739194|PMID:12424189|PMID:12468428|PMID:15161861|PMID:17576681|PMID:21761136|PMID:22935719|PMID:25457163|PMID:25741868|PMID:28492532|PMID:29770612|PMID:29914532|PMID:9536098
1303198 Gcnt2 glucosaminyl (N-acetyl) transferase 2 gene DOID:630 genetic disease ISO RGD:1607088 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
1303198 Gcnt2 glucosaminyl (N-acetyl) transferase 2 gene DOID:83 cataract ISO RGD:1607088 D RGD:8554872 20170711 ClinVar ClinVar Annotator: match by term: Congenital cataract
1303198 Gcnt2 glucosaminyl (N-acetyl) transferase 2 gene DOID:83 cataract ISO RGD:1607088 D RGD:8693611|PMID:15161861 20060127 RGD DNA:nonsense mutation:exon:
1303201 Sgce sarcoglycan, epsilon gene DOID:0090033 myoclonic dystonia ISO RGD:1352882 D RGD:11554173 20220705 CTD CTD Direct Evidence: marker/mechanism
1303201 Sgce sarcoglycan, epsilon gene DOID:0090033 myoclonic dystonia ISO RGD:1352882 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia | ClinVar Annotator: match by term: Myoclonus-Dystonia | ClinVar Annotator: match by term: Myoclonus-dystonia syndrome PMID:11528394|PMID:12821748|PMID:12874409|PMID:15079037|PMID:15389977|PMID:15728306|PMID:17296918|PMID:17853490|PMID:18205193|PMID:23748201|PMID:24297365|PMID:25741868|PMID:26467025|PMID:28155872|PMID:28492532|PMID:9750929
1303201 Sgce sarcoglycan, epsilon gene DOID:0090034 myoclonic dystonia 11 ISO RGD:1352882 D RGD:7240710 20220629 OMIM
1303201 Sgce sarcoglycan, epsilon gene DOID:0090034 myoclonic dystonia 11 ISO RGD:1352882 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 | ClinVar Annotator: match by term: SGCE-related condition PMID:10220438|PMID:10716258|PMID:11022010|PMID:11523564|PMID:11528394|PMID:12325078|PMID:12391338|PMID:12391355|PMID:12402271|PMID:12743249|PMID:12821748|PMID:12874409|PMID:15079037|PMID:15389977|PMID:15728306|PMID:16199547|PMID:16227522|PMID:16240355|PMID:17101905|PMID:17296918|PMID:17576681|PMID:17853490|PMID:18175340|PMID:18205193|PMID:18349702|PMID:18355305|PMID:18362280|PMID:18759336|PMID:19066193|PMID:19117361|PMID:19117362|PMID:19133653|PMID:19147379|PMID:21796726|PMID:22026499|PMID:22259621|PMID:23365103|PMID:2367709|PMID:23677909|PMID:23748201|PMID:24297365|PMID:24759409|PMID:25034659|PMID:25150291|PMID:25209853|PMID:25401298|PMID:25406829|PMID:25741868|PMID:25868953|PMID:26046366|PMID:26467025|PMID:27441098|PMID:28155872|PMID:28492532|PMID:29607243|PMID:30849405|PMID:31186545|PMID:31449710|PMID:32927286|PMID:32955639|PMID:33200041|PMID:37688281|PMID:9536098|PMID:9750929
1303201 Sgce sarcoglycan, epsilon gene DOID:0090034 myoclonic dystonia 11 ISS RGD:1553181 D RGD:13592920 20230718 MouseDO OMIM:159900
1303201 Sgce sarcoglycan, epsilon gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1352882 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:11288717|PMID:15077201|PMID:28492532
1303201 Sgce sarcoglycan, epsilon gene DOID:10534 stomach cancer severity ISO RGD:1352882 D RGD:152995287|PMID:28035468 20220614 RGD mRNA:altered expression:stomach tumor (human)
1303201 Sgce sarcoglycan, epsilon gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352882 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532
1303201 Sgce sarcoglycan, epsilon gene DOID:480 movement disease ISO RGD:1352882 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:25741868|PMID:28492532
1303201 Sgce sarcoglycan, epsilon gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352882 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1303201 Sgce sarcoglycan, epsilon gene DOID:630 genetic disease ISO RGD:1352882 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11528394|PMID:12821748|PMID:15389977|PMID:15728306|PMID:16199547|PMID:17296918|PMID:17853490|PMID:18175340|PMID:18205193|PMID:23748201|PMID:24297365|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9750929
1303204 Arfip2 ARF interacting protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349532 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532
1303205 Phf1 PHD finger protein 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1344150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303205 Phf1 PHD finger protein 1 gene DOID:0060009 MHC class I deficiency ISO RGD:1344150 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: MHC class I deficiency PMID:28492532
1303205 Phf1 PHD finger protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1344150 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532
1303207 mt-Tl1 mitochondrially encoded tRNA leucine 1 gene DOID:0050700 cardiomyopathy ISO RGD:1353707 D RGD:1580746|PMID:7906985 19990101 RGD
1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:3082 interstitial lung disease ISO RGD:1348852 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:29979980
1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:5082 liver cirrhosis ISO RGD:1348852 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Liver cirrhosis PMID:29979980
1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:630 genetic disease ISO RGD:1348852 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9001665 Aneurysm ISO RGD:1348852 D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:29979980
1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9001942 Rajab Interstitial Lung Disease with Brain Calcifications ISO RGD:1348852 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications PMID:19161147|PMID:25741868|PMID:28492532|PMID:29573043|PMID:29979980|PMID:30014610|PMID:35937029
1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1348852 D RGD:8554872 20181113 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:29573043
1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348852 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9006686 Rajab Interstitial Lung Disease with Brain Calcifications 1 ISO RGD:1348852 D RGD:7240710 20190315 OMIM
1303210 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9006686 Rajab Interstitial Lung Disease with Brain Calcifications 1 ISO RGD:1348852 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 PMID:19161147|PMID:25741868|PMID:28492532|PMID:29979980|PMID:30014610|PMID:35937029
1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:0081220 autosomal recessive intellectual developmental disorder 58 ISO RGD:1605037 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58 PMID:28492532
1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532
1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:4621 holoprosencephaly ISS RGD:1619812 D RGD:13592920 20191010 MouseDO
1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:630 genetic disease ISO RGD:1605037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17711852|PMID:25741868|PMID:26050939|PMID:27848944|PMID:28492532
1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9002189 High Myopia ISO RGD:1605037 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: High myopia
1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605037 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532
1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605037 D RGD:8554872 20180515 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:25804403|PMID:26350515
1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9006299 Mental Retardation, Autosomal Recessive 42 ISO RGD:1605037 D RGD:7240710 20140911 OMIM
1303213 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9006299 Mental Retardation, Autosomal Recessive 42 ISO RGD:1605037 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities PMID:16199547|PMID:17576681|PMID:17711852|PMID:24482476|PMID:25741868|PMID:25804403|PMID:25823418|PMID:26050939|PMID:26350515|PMID:27848944|PMID:28492532|PMID:34906502|PMID:9536098
1303214 Emc10 ER membrane protein complex subunit 10 gene DOID:1059 intellectual disability ISO RGD:1602050 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33531666|PMID:35684946
1303214 Emc10 ER membrane protein complex subunit 10 gene DOID:630 genetic disease ISO RGD:1602050 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868
1303214 Emc10 ER membrane protein complex subunit 10 gene DOID:9007229 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures ISO RGD:1602050 D RGD:7240710 20210414 OMIM
1303214 Emc10 ER membrane protein complex subunit 10 gene DOID:9007229 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures ISO RGD:1602050 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures PMID:25741868|PMID:32869858|PMID:33531666|PMID:35684946
1303215 Krt86 keratin 86 gene DOID:0050472 monilethrix ISO RGD:1348087 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303215 Krt86 keratin 86 gene DOID:0050472 monilethrix ISO RGD:1348087 D RGD:7240710 20140806 OMIM
1303215 Krt86 keratin 86 gene DOID:0050472 monilethrix ISO RGD:1348087 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: KRT86-related condition | ClinVar Annotator: match by term: Nodose hair PMID:10469314|PMID:10594761|PMID:10878478|PMID:15050877|PMID:15744029|PMID:19400537|PMID:25326635|PMID:25741868|PMID:28492532|PMID:7556444|PMID:9241275|PMID:9402962|PMID:9457912|PMID:9665406|PMID:9804356
1303215 Krt86 keratin 86 gene DOID:421 hair disease susceptibility ISO RGD:1348087 D RGD:1600198|PMID:9241275 20070302 RGD protein:mutations: ; E410K, E410D; monilethrix, OMIM:158000
1303215 Krt86 keratin 86 gene DOID:630 genetic disease ISO RGD:1348087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
1303218 Emcn endomucin gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1602001 D RGD:151665104|PMID:32626543 20220310 RGD
1303219 Samm50 SAMM50 sorting and assembly machinery component gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1604035 D RGD:13463463|PMID:26740948 20171215 RGD DNA:SNPs: :
1303219 Samm50 SAMM50 sorting and assembly machinery component gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604035 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome
1303219 Samm50 SAMM50 sorting and assembly machinery component gene DOID:1059 intellectual disability ISO RGD:1604035 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1303221 Ppic peptidylprolyl isomerase C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1344607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1303221 Ppic peptidylprolyl isomerase C gene DOID:9000217 Stomach Neoplasms ISO RGD:1344607 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16367923
1303221 Ppic peptidylprolyl isomerase C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344607 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303221 Ppic peptidylprolyl isomerase C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1303221 Ppic peptidylprolyl isomerase C gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1344607 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835
1303222 Aicda activation-induced cytidine deaminase gene DOID:0050211 swine influenza disease_progression ISO RGD:1347771 D RGD:32716383|PMID:23028320 20200626 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:0050211 swine influenza treatment ISO RGD:1347771 D RGD:32716408|PMID:22281510 20200629 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532
1303222 Aicda activation-induced cytidine deaminase gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1347771 D RGD:7240710 20180829 OMIM
1303222 Aicda activation-induced cytidine deaminase gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1347771 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:11007475|PMID:11112359|PMID:12715918|PMID:12910268|PMID:14564357|PMID:14769937|PMID:14962793|PMID:15358621|PMID:15893695|PMID:16199547|PMID:16964591|PMID:17553565|PMID:17560278|PMID:17576681|PMID:18838546|PMID:20652909|PMID:21192628|PMID:22715099|PMID:23803409|PMID:24033266|PMID:24349193|PMID:24591601|PMID:25025377|PMID:25064858|PMID:25741868|PMID:26551569|PMID:27142677|PMID:27577878|PMID:28492532|PMID:32423680|PMID:33377626|PMID:34992599|PMID:9536098
1303222 Aicda activation-induced cytidine deaminase gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISS RGD:1551301 D RGD:13592920 20230810 MouseDO OMIM:605258
1303222 Aicda activation-induced cytidine deaminase gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1347771 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896
1303222 Aicda activation-induced cytidine deaminase gene DOID:0080544 hyper IgM syndrome ISO RGD:1347771 D RGD:11554173 20200303 CTD CTD Direct Evidence: marker/mechanism
1303222 Aicda activation-induced cytidine deaminase gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1347771 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532
1303222 Aicda activation-induced cytidine deaminase gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1347771 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896
1303222 Aicda activation-induced cytidine deaminase gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1551301 D RGD:11039456|PMID:20357822 20160303 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:0111621 Temtamy syndrome ISO RGD:1347771 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532
1303222 Aicda activation-induced cytidine deaminase gene DOID:1037 lymphoid leukemia ISO RGD:1347771 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23589568
1303222 Aicda activation-induced cytidine deaminase gene DOID:12365 malaria ISO RGD:1551301 D RGD:30310233|PMID:27980783 20200624 RGD protein:increased expression: B cell
1303222 Aicda activation-induced cytidine deaminase gene DOID:1273 respiratory syncytial virus infectious disease treatment ISO RGD:1551301 D RGD:127285642|PMID:27721128 20210624 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:2043 hepatitis B treatment ISO RGD:1551301 D RGD:30310232|PMID:28063995 20200624 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:2938 Epstein-Barr virus infectious disease ISO RGD:1347771 D RGD:32716377|PMID:25099163 20200626 RGD associated with malaria;mRNA:increased expression:B cell
1303222 Aicda activation-induced cytidine deaminase gene DOID:2938 Epstein-Barr virus infectious disease ISO RGD:1347771 D RGD:32716387|PMID:21697063 20200706 RGD mRNA:increased expression:T cell, natural killer cell
1303222 Aicda activation-induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome ISO RGD:1347771 D RGD:11039457|PMID:17553565 20160303 RGD DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)
1303222 Aicda activation-induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome ISO RGD:1347771 D RGD:11039485|PMID:15372234 20160304 RGD DNA:splice-site mutation:intron:IVS2+1G>T (human)
1303222 Aicda activation-induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome onset ISO RGD:1347771 D RGD:11039483|PMID:11112359 20160304 RGD DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human)
1303222 Aicda activation-induced cytidine deaminase gene DOID:2959 hyperimmunoglobulin syndrome susceptibility ISO RGD:1347771 D RGD:1598906|PMID:11007475 20061220 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:3721 plasmacytoma treatment ISO RGD:1551301 D RGD:11039454|PMID:20404277 20160303 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:4029 gastritis ISO RGD:1551301 D RGD:11039453|PMID:18716662 20160303 RGD associated with Autoimmune Diseases
1303222 Aicda activation-induced cytidine deaminase gene DOID:417 autoimmune disease ISO RGD:1347771 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21305519
1303222 Aicda activation-induced cytidine deaminase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347771 D RGD:127285639|PMID:30219203 20210624 RGD mRNA:increased expression:peripheral blood mononuclear cell (human)
1303222 Aicda activation-induced cytidine deaminase gene DOID:630 genetic disease ISO RGD:1347771 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
1303222 Aicda activation-induced cytidine deaminase gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1347771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome PMID:24033266|PMID:25741868|PMID:28492532
1303222 Aicda activation-induced cytidine deaminase gene DOID:684 hepatocellular carcinoma ISO RGD:1551301 D RGD:127285629|PMID:18997814 20210624 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:707 B-cell lymphoma ISO RGD:1551301 D RGD:11039449|PMID:17251349 20160303 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347771 D RGD:127285638|PMID:21538122 20210624 RGD associated with stomach cancer;protein:increased expression:stomach (human)
1303222 Aicda activation-induced cytidine deaminase gene DOID:9000242 Lymphoma, AIDS-Related disease_progression ISO RGD:1347771 D RGD:32716407|PMID:18090274 20200629 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:9000386 Polyomavirus Infections ISO RGD:1347771 D RGD:30310234|PMID:28959124 20200624 RGD associated with Merkel cell carcinoma;protein:decreased expression::
1303222 Aicda activation-induced cytidine deaminase gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1551301 D RGD:11098923|PMID:26456931 20200626 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1347771 D RGD:11039455|PMID:21133730 20160303 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:9002473 Blast Crisis ISO RGD:1347771 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21570118
1303222 Aicda activation-induced cytidine deaminase gene DOID:9003369 Strongylida Infections ISO RGD:1551301 D RGD:32716404|PMID:23630966 20200629 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347771 D RGD:30296664|PMID:26219420 20200615 RGD mRNA:increased expression:B cell
1303222 Aicda activation-induced cytidine deaminase gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347771 D RGD:32716380|PMID:20189883 20200626 RGD mRNA, protein:increased expression:B cell, CD19-positive (human)
1303222 Aicda activation-induced cytidine deaminase gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1347771 D RGD:32716369|PMID:26946048 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human)
1303222 Aicda activation-induced cytidine deaminase gene DOID:9004092 cryoglobulinemic vasculitis ISO RGD:1347771 D RGD:30296664|PMID:26219420 20200615 RGD associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human)
1303222 Aicda activation-induced cytidine deaminase gene DOID:9005099 Salmonella Infections, Animal severity ISO RGD:1551301 D RGD:127285640|PMID:29743315 20210624 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:9006644 Retroviridae Infections exacerbates ISO RGD:1551301 D RGD:127285628|PMID:16782033 20210624 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:9006644 Retroviridae Infections treatment ISO RGD:1551301 D RGD:127285643|PMID:25378499 20210624 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:9007339 Alphavirus Infections severity ISO RGD:1551301 D RGD:127285644|PMID:29321331 20210624 RGD
1303222 Aicda activation-induced cytidine deaminase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347771 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098
1303222 Aicda activation-induced cytidine deaminase gene DOID:9008114 Helicobacter Infections ISO RGD:1347771 D RGD:127285627|PMID:23591766 20210624 RGD protein:increased expression:mucosa of stomach (human)
1303222 Aicda activation-induced cytidine deaminase gene DOID:9146 visceral leishmaniasis ISO RGD:1551301 D RGD:32716386|PMID:31001826 20200626 RGD mRNA:altered expression:Bcell,CD4Tcell
1303222 Aicda activation-induced cytidine deaminase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1347771 D RGD:11039451|PMID:19759560 20160303 RGD
1303224 Gprasp3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347976 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
1303224 Gprasp3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:0111823 autosomal hemophilia A ISO RGD:1347976 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
1303224 Gprasp3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:12134 factor VIII deficiency ISO RGD:1347976 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
1303224 Gprasp3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:12849 autistic disorder ISO RGD:1347976 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1303226 Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:1826 epilepsy ISO RGD:1349384 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868
1303226 Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1349384 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868
1303226 Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1349384 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15308739
1303227 Fkbpl FKBP prolyl isomerase like gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303227 Fkbpl FKBP prolyl isomerase like gene DOID:9008939 Breast Neoplasms ISO RGD:1353952 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:20103631
1303228 Klk4 kallikrein-related peptidase 4 gene DOID:0110057 amelogenesis imperfecta type 2A1 ISO RGD:1353266 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303228 Klk4 kallikrein-related peptidase 4 gene DOID:0110057 amelogenesis imperfecta type 2A1 ISO RGD:1353266 D RGD:7240710 20170503 OMIM
1303228 Klk4 kallikrein-related peptidase 4 gene DOID:0110057 amelogenesis imperfecta type 2A1 ISO RGD:1353266 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 | ClinVar Annotator: match by term: KLK4-related condition PMID:15235027|PMID:204700|PMID:21597265|PMID:23355523|PMID:25741868|PMID:28611678
1303228 Klk4 kallikrein-related peptidase 4 gene DOID:10283 prostate cancer ISO RGD:1353266 D RGD:2314854|PMID:17545602 20091130 RGD protein:increased expression:prostate gland
1303228 Klk4 kallikrein-related peptidase 4 gene DOID:10283 prostate cancer ISO RGD:1353266 D RGD:2314857|PMID:12370833 20091130 RGD
1303228 Klk4 kallikrein-related peptidase 4 gene DOID:12336 male infertility ISO RGD:1353266 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Male infertility PMID:25741868
1303228 Klk4 kallikrein-related peptidase 4 gene DOID:1612 breast cancer disease_progression ISO RGD:1353266 D RGD:2314853|PMID:18687310 20091130 RGD mRNA, protein:increased expression:breast
1303228 Klk4 kallikrein-related peptidase 4 gene DOID:1612 breast cancer severity ISO RGD:1353266 D RGD:2314852|PMID:19190825 20091130 RGD
1303228 Klk4 kallikrein-related peptidase 4 gene DOID:2187 amelogenesis imperfecta ISO RGD:1353266 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta
1303228 Klk4 kallikrein-related peptidase 4 gene DOID:2394 ovarian cancer severity ISO RGD:1353266 D RGD:2314856|PMID:15262123 20091130 RGD
1303228 Klk4 kallikrein-related peptidase 4 gene DOID:630 genetic disease ISO RGD:1353266 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868
1303229 Wfdc12 WAP four-disulfide core domain 12 gene DOID:2234 focal epilepsy ISO RGD:1349049 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362
1303229 Wfdc12 WAP four-disulfide core domain 12 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1349049 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:26255240|PMID:26376800|PMID:28492532
1303229 Wfdc12 WAP four-disulfide core domain 12 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1349049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532
1303231 Rasl11a RAS-like family 11 member A gene DOID:289 endometriosis ISO RGD:1343885 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642
1303231 Rasl11a RAS-like family 11 member A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343885 D RGD:11554173 20181113 CTD CTD Direct Evidence: marker/mechanism PMID:30224643
1303232 Pyroxd2 pyridine nucleotide-disulphide oxidoreductase domain 2 gene DOID:3652 Leigh disease ISO RGD:1353326 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868
1303233 Fgfr1op2 FGFR1 oncogene partner 2 gene DOID:0070004 myeloid neoplasm ISO RGD:1348205 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22875613
1303234 Clca4 chloride channel accessory 4 gene DOID:12849 autistic disorder ISO RGD:1351138 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Autism
1303235 Hsd17b11 hydroxysteroid (17-beta) dehydrogenase 11 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1352920 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868
1303236 Esrrg estrogen-related receptor gamma gene DOID:0050439 Usher syndrome ISO RGD:1349366 D RGD:8554872 20171010 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643
1303236 Esrrg estrogen-related receptor gamma gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1349366 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325
1303236 Esrrg estrogen-related receptor gamma gene DOID:1540 parathyroid carcinoma ISO RGD:1349366 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1303236 Esrrg estrogen-related receptor gamma gene DOID:5426 primary ovarian insufficiency ISO RGD:1349366 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868
1303236 Esrrg estrogen-related receptor gamma gene DOID:9002231 Fetal Growth Retardation ISO RGD:1349366 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35220427
1303236 Esrrg estrogen-related receptor gamma gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349366 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1342875 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1342875 D RGD:7240710 20130221 OMIM
1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1342875 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:14708602|PMID:15136565|PMID:16199547|PMID:18339307|PMID:18682927|PMID:20022472|PMID:20520629|PMID:22373837|PMID:25741868|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:3354610|PMID:6181472
1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1342875 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: ABHD5-related condition | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:14708602|PMID:15136565|PMID:16199547|PMID:18339307|PMID:18682927|PMID:20022472|PMID:20520629|PMID:22373837|PMID:25741868|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:3354610|PMID:545139|PMID:6181472|PMID:7362208
1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 Chanarin-Dorfman syndrome ISS RGD:1551382 D RGD:13592920 20230718 MouseDO OMIM:275630
1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1342875 D RGD:1598668|PMID:11590543 20061211 RGD
1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1342875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532
1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:234 colon adenocarcinoma ISO RGD:1342875 D RGD:153002829|PMID:30842415 20220720 RGD human cells in mouse model
1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:1342875 D RGD:153002829|PMID:30842415 20220720 RGD mRNA:decreased expression:colon (human)
1303237 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:630 genetic disease ISO RGD:1342875 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1343645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532
1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935
1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:0110266 cataract 9 multiple types ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532
1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:12849 autistic disorder ISO RGD:1343645 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:8456 choline deficiency disease IEP D RGD:9588267|PMID:17724018 20141023 RGD mRNA:increased expression:liver:
1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935
1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343645 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:9263 homocystinuria ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532
1303239 Dnmt3l DNA methyltransferase 3 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343645 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532
1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1344647 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:28492532
1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:0080600 COVID-19 ISO RGD:1344647 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:1749 squamous cell carcinoma ISO RGD:1344647 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25194279
1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:2717 Bloom syndrome ISO RGD:1344647 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:3151 skin squamous cell carcinoma ISO RGD:1344647 D RGD:28867225|PMID:30972880 20200604 RGD DNA:mutation:cds: p.Ala40Glu (human)
1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:3151 skin squamous cell carcinoma ISO RGD:1344647 D RGD:28867226|PMID:25194279 20200604 RGD DNA:mutation:cds: p.Ser24Phe(human)
1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:8866 actinic keratosis severity ISO RGD:1344647 D RGD:28867225|PMID:30972880 20200604 RGD DNA:mutation:cds: p.Ala40Glu (human)
1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1344647 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1344647 D RGD:7240710 20210505 OMIM
1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1344647 D RGD:8554872 20220215 ClinVar ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic PMID:19863561|PMID:29180244
1303240 Knstrn kinetochore-localized astrin/SPAG5 binding protein gene DOID:9256 colorectal cancer ISO RGD:1344647 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
1303241 Bace2 beta-secretase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1350115 D RGD:13782172|PMID:22074738 20180827 RGD mRNA,protein:increased expression:gyrus:
1303241 Bace2 beta-secretase 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1350115 D RGD:13782180|PMID:16023140 20180827 RGD DNA:SNP,haplotype:exon:
1303241 Bace2 beta-secretase 2 gene DOID:12849 autistic disorder ISO RGD:1350115 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1303241 Bace2 beta-secretase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350115 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303241 Bace2 beta-secretase 2 gene DOID:9255 frontotemporal dementia ISO RGD:1350115 D RGD:13782172|PMID:22074738 20180827 RGD mRNA,protein, activity:increased expression, increased activity:gyrus:
1303241 Bace2 beta-secretase 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1551409 D RGD:13782177|PMID:28337562 20180827 RGD
1303242 Klk10 kallikrein related-peptidase 10 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:1606032 D RGD:2314849|PMID:12788170 20091130 RGD mRNA:decreased expression:breast
1303242 Klk10 kallikrein related-peptidase 10 gene DOID:10283 prostate cancer susceptibility ISO RGD:1606032 D RGD:2314851|PMID:11920956 20091130 RGD DNA:SNP:exon:p.A50S (human)
1303242 Klk10 kallikrein related-peptidase 10 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1606032 D RGD:2314846|PMID:18766180 20091130 RGD
1303242 Klk10 kallikrein related-peptidase 10 gene DOID:363 uterine cancer ISO RGD:1606032 D RGD:2314848|PMID:16647913 20091130 RGD mRNA, protein:increased expression:endometrium, serum
1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17182177
1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1606032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20686372
1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9003281 Spontaneous Abortions ISO RGD:1606032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642
1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9004207 Testicular Neoplasms ISO RGD:1606032 D RGD:2314851|PMID:11920956 20091130 RGD mRNA, protein:decreased expression:testis
1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16800735
1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:2314845|PMID:19150938 20091130 RGD DNA:hypermethylation:exon (human)
1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:2314847|PMID:17585892 20091130 RGD
1303242 Klk10 kallikrein related-peptidase 10 gene DOID:9008939 Breast Neoplasms severity ISO RGD:1606032 D RGD:2314850|PMID:12087468 20091130 RGD
1303243 Sptb spectrin, beta, erythrocytic gene DOID:0061026 Hereditary Pyropoikilocytosis ISO RGD:1349727 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary PMID:25741868|PMID:28492532
1303243 Sptb spectrin, beta, erythrocytic gene DOID:0110917 hereditary spherocytosis type 2 ISO RGD:1349727 D RGD:7240710 20171011 OMIM
1303243 Sptb spectrin, beta, erythrocytic gene DOID:0110917 hereditary spherocytosis type 2 ISO RGD:1349727 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition PMID:11703334|PMID:1391962|PMID:1498324|PMID:17576681|PMID:19538529|PMID:25741868|PMID:26830532|PMID:27292444|PMID:28102861|PMID:28492532|PMID:29572776|PMID:29758562|PMID:30198572|PMID:30486584|PMID:31122244|PMID:31126250|PMID:31602632|PMID:31723846|PMID:31807509|PMID:31980736|PMID:32436265|PMID:32596782|PMID:32641076|PMID:33014018|PMID:33074480|PMID:33868383|PMID:34140613|PMID:34182956|PMID:34335240|PMID:35406697|PMID:36071563|PMID:36135330|PMID:36203343|PMID:38069343|PMID:38556258|PMID:38592584|PMID:6426236|PMID:7883966|PMID:8018926|PMID:8667615|PMID:8844207|PMID:9536098|PMID:9714702
1303243 Sptb spectrin, beta, erythrocytic gene DOID:11244 neonatal anemia ISO RGD:1349727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9005995
1303243 Sptb spectrin, beta, erythrocytic gene DOID:12971 hereditary spherocytosis ISO RGD:1349727 D RGD:11059526|PMID:19538529 20160415 RGD mRNA:decreased expression:erythrocyte:
1303243 Sptb spectrin, beta, erythrocytic gene DOID:12971 hereditary spherocytosis ISO RGD:1349727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:8102379|PMID:19538529
1303243 Sptb spectrin, beta, erythrocytic gene DOID:12971 hereditary spherocytosis ISO RGD:1349727 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant PMID:19538529|PMID:25741868|PMID:28492532|PMID:29396846|PMID:34201899
1303243 Sptb spectrin, beta, erythrocytic gene DOID:2355 anemia ISO RGD:1349727 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868
1303243 Sptb spectrin, beta, erythrocytic gene DOID:2373 hereditary elliptocytosis ISO RGD:1349727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:1975598
1303243 Sptb spectrin, beta, erythrocytic gene DOID:2373 hereditary elliptocytosis ISO RGD:1349727 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Elliptocytosis PMID:19538529|PMID:25741868|PMID:28492532|PMID:29396846|PMID:34201899
1303243 Sptb spectrin, beta, erythrocytic gene DOID:583 hemolytic anemia ISO RGD:1349727 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:9005995
1303243 Sptb spectrin, beta, erythrocytic gene DOID:583 hemolytic anemia ISO RGD:1349727 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:25741868
1303243 Sptb spectrin, beta, erythrocytic gene DOID:589 congenital hemolytic anemia ISO RGD:1349727 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868
1303243 Sptb spectrin, beta, erythrocytic gene DOID:630 genetic disease ISO RGD:1349727 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:38592584
1303243 Sptb spectrin, beta, erythrocytic gene DOID:9000177 Chudley-Mccullough syndrome ISO RGD:1349727 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Chudley-McCullough syndrome PMID:1391962|PMID:1498324|PMID:25741868|PMID:26830532|PMID:27292444|PMID:28492532|PMID:8844207
1303243 Sptb spectrin, beta, erythrocytic gene DOID:9003801 Elliptocytosis 3 ISO RGD:1349727 D RGD:7240710 20190315 OMIM
1303243 Sptb spectrin, beta, erythrocytic gene DOID:9003801 Elliptocytosis 3 ISO RGD:1349727 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL | ClinVar Annotator: match by term: Elliptocytosis 3 PMID:17576681|PMID:25741868|PMID:28492532|PMID:29396846|PMID:29572776|PMID:30198572|PMID:31980736|PMID:32596782|PMID:33074480|PMID:34201899|PMID:35406697|PMID:38556258|PMID:38592584|PMID:7883966|PMID:8667615|PMID:8844207|PMID:9536098
1303244 Kprp keratinocyte proline-rich protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532
1303244 Kprp keratinocyte proline-rich protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532
1303244 Kprp keratinocyte proline-rich protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1353027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532
1303244 Kprp keratinocyte proline-rich protein gene DOID:10283 prostate cancer ISO RGD:1353027 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate
1303244 Kprp keratinocyte proline-rich protein gene DOID:1540 parathyroid carcinoma ISO RGD:1353027 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1303244 Kprp keratinocyte proline-rich protein gene DOID:5812 MHC class II deficiency ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532
1303244 Kprp keratinocyte proline-rich protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353027 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1303245 Rtn2 reticulon 2 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1351891 D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532
1303245 Rtn2 reticulon 2 gene DOID:0110765 hereditary spastic paraplegia 12 ISO RGD:1351891 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303245 Rtn2 reticulon 2 gene DOID:0110765 hereditary spastic paraplegia 12 ISO RGD:1351891 D RGD:7240710 20130221 OMIM
1303245 Rtn2 reticulon 2 gene DOID:0110765 hereditary spastic paraplegia 12 ISO RGD:1351891 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 | ClinVar Annotator: match by term: RTN2-related condition PMID:10677333|PMID:12427890|PMID:22232211|PMID:24123792|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532|PMID:35684947|PMID:38527963
1303245 Rtn2 reticulon 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1351891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532
1303245 Rtn2 reticulon 2 gene DOID:607 paraplegia ISO RGD:1351891 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:22232211|PMID:24123792|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28166811|PMID:28492532|PMID:9536098
1303245 Rtn2 reticulon 2 gene DOID:630 genetic disease ISO RGD:1351891 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532
1303245 Rtn2 reticulon 2 gene DOID:9008910 autosomal recessive distal hereditary motor neuronopathy 11 ISO RGD:1351891 D RGD:7240710 20240717 OMIM
1303245 Rtn2 reticulon 2 gene DOID:9008910 autosomal recessive distal hereditary motor neuronopathy 11 ISO RGD:1351891 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity PMID:10677333|PMID:12427890|PMID:22232211|PMID:38527963
1303246 Dek DEK proto-oncogene gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349075 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057
1303246 Dek DEK proto-oncogene gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349075 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:21291860|PMID:27811057
1303246 Dek DEK proto-oncogene gene DOID:9006205 Animal Disease Models ISO RGD:1349075 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057
1303246 Dek DEK proto-oncogene gene DOID:9008939 Breast Neoplasms ISO RGD:1349075 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057
1303247 Slc25a47 solute carrier family 25, member 47 gene DOID:10283 prostate cancer ISO RGD:1345966 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
1303247 Slc25a47 solute carrier family 25, member 47 gene DOID:684 hepatocellular carcinoma ISO RGD:1345966 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:28284560
1303248 Jam3 junctional adhesion molecule 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1346212 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546
1303248 Jam3 junctional adhesion molecule 3 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1346212 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868
1303248 Jam3 junctional adhesion molecule 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1346212 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362
1303248 Jam3 junctional adhesion molecule 3 gene DOID:11446 sciatic neuropathy IEP D RGD:7488944|PMID:22950044 20131206 RGD
1303248 Jam3 junctional adhesion molecule 3 gene DOID:3042 allergic contact dermatitis ISO RGD:1551450 D RGD:7488919|PMID:16297198 20131205 RGD
1303248 Jam3 junctional adhesion molecule 3 gene DOID:418 systemic scleroderma ISO RGD:1346212 D RGD:7488920|PMID:23001478 20131205 RGD protein:increased expression:skin
1303248 Jam3 junctional adhesion molecule 3 gene DOID:418 systemic scleroderma ISO RGD:1346212 D RGD:7488937|PMID:19439502 20131206 RGD protein:decreased expression:skin, endothelial cell
1303248 Jam3 junctional adhesion molecule 3 gene DOID:5419 schizophrenia ISO RGD:1346212 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1303248 Jam3 junctional adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1346212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
1303248 Jam3 junctional adhesion molecule 3 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1551450 D RGD:7488935|PMID:22323465 20131206 RGD
1303248 Jam3 junctional adhesion molecule 3 gene DOID:9002502 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts ISO RGD:1346212 D RGD:7240710 20130221 OMIM
1303248 Jam3 junctional adhesion molecule 3 gene DOID:9002502 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | ClinVar Annotator: match by term: JAM3-related condition PMID:21109224|PMID:23255084|PMID:25741868|PMID:25741869|PMID:28492532|PMID:32860008
1303248 Jam3 junctional adhesion molecule 3 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:1551450 D RGD:7488936|PMID:15994945 20131206 RGD
1303248 Jam3 junctional adhesion molecule 3 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532
1303248 Jam3 junctional adhesion molecule 3 gene DOID:9007748 Retinal Neovascularization ISO RGD:1551450 D RGD:7488936|PMID:15994945 20131206 RGD
1303249 Vkorc1l1 vitamin K epoxide reductase complex, subunit 1-like 1 gene DOID:10283 prostate cancer ISO RGD:1353419 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
1303249 Vkorc1l1 vitamin K epoxide reductase complex, subunit 1-like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353419 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:0050144 Kartagener syndrome ISO RGD:1351816 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Siewert syndrome PMID:23891469|PMID:23891471|PMID:25741868|PMID:26139845|PMID:28492532|PMID:33635866
1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802
1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:0110594 primary ciliary dyskinesia 1 ISO RGD:1351816 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS PMID:23891469|PMID:23891471|PMID:25741868|PMID:26139845|PMID:28492532|PMID:33635866
1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:0110597 primary ciliary dyskinesia 22 ISO RGD:1351816 D RGD:7240710 20140911 OMIM
1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:0110597 primary ciliary dyskinesia 22 ISO RGD:1351816 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 | ClinVar Annotator: match by term: ZMYND10-related condition PMID:23891469|PMID:23891471|PMID:25741868|PMID:26139845|PMID:28492532|PMID:31650533|PMID:33635866
1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:0110597 primary ciliary dyskinesia 22 ISS RGD:1551456 D RGD:13592920 20230718 MouseDO OMIM:615444
1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802
1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:630 genetic disease ISO RGD:1351816 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1351816 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME PMID:23891469|PMID:23891471|PMID:25741868|PMID:26139845|PMID:28492532|PMID:33635866
1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351816 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:23891469|PMID:23891471|PMID:25741868|PMID:26139845|PMID:26824761|PMID:28492532|PMID:31650533|PMID:31879361|PMID:33635866|PMID:9536098
1303250 Zmynd10 zinc finger, MYND-type containing 10 gene DOID:9563 bronchiectasis ISO RGD:1351816 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS PMID:23891469|PMID:23891471|PMID:25741868|PMID:26139845|PMID:28492532|PMID:33635866
1303251 Mkrn1 makorin ring finger protein 1 gene DOID:0080690 RASopathy ISO RGD:1347564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532
1303251 Mkrn1 makorin ring finger protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347564 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1606319 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 PMID:25741868
1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:0070060 autosomal dominant intellectual developmental disorder 30 ISO RGD:1606319 D RGD:7240710 20170510 OMIM
1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:0070060 autosomal dominant intellectual developmental disorder 30 ISO RGD:1606319 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 30 | ClinVar Annotator: match by term: ZMYND11-related condition PMID:25217958|PMID:25281490|PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28492532|PMID:28708303|PMID:28933030|PMID:32097528|PMID:34216016|PMID:35172867
1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:10534 stomach cancer ISO RGD:1606319 D RGD:153344525|PMID:34969361 20220819 RGD mRNA:decreased expression:stomach (human)
1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:1059 intellectual disability ISO RGD:1606319 D RGD:8554872 20171107 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25217958
1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:12849 autistic disorder ISO RGD:1606319 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25217958
1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:5419 schizophrenia ISO RGD:1606319 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia
1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:630 genetic disease ISO RGD:1606319 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25281490|PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28492532|PMID:28933030|PMID:35172867
1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:9002091 Paragangliomas 5 ISO RGD:1606319 D RGD:8554872 20170207 ClinVar ClinVar Annotator: match by term: Paragangliomas 5
1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606319 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25281490|PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28492532|PMID:28933030|PMID:35172867
1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:9008086 Developmental Disabilities ISO RGD:1606319 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25281490|PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28492532|PMID:28933030|PMID:35172867
1303252 Zmynd11 zinc finger, MYND-type containing 11 gene DOID:9008879 Self Mutilation ISO RGD:1606319 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Self-mutilation PMID:25741868
1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0080307 myofibrillar myopathy ISO RGD:1605346 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism
1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0080308 myofibrillar myopathy 8 ISO RGD:1605346 D RGD:7240710 20190315 OMIM
1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0080308 myofibrillar myopathy 8 ISO RGD:1605346 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 8 | ClinVar Annotator: match by term: PYROXD1-related condition PMID:17576681|PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:30515627|PMID:31455395|PMID:32037607|PMID:33694278|PMID:9536098
1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1605346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532
1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605346 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:32566746
1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:630 genetic disease ISO RGD:1605346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9001941 RECON PROGEROID SYNDROME ISO RGD:1605346 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: RECQL-related condition PMID:25741868|PMID:28492532
1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532|PMID:30224651
1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:25741868|PMID:28492532|PMID:28724667|PMID:29351780|PMID:30224651|PMID:32566746
1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15096578|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28724667|PMID:29351780|PMID:30224651|PMID:32566746|PMID:33471991
1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:15096578|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28724667|PMID:29351780|PMID:30224651|PMID:32566746|PMID:33471991|PMID:35264596
1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26467025|PMID:28492532|PMID:30224651|PMID:35264596
1303253 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:30224651|PMID:35264596
1303254 Zdhhc23 zinc finger DHHC-type palmitoyltransferase 23 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513
1303255 Eif3d eukaryotic translation initiation factor 3, subunit D gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1352969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532
1303255 Eif3d eukaryotic translation initiation factor 3, subunit D gene DOID:10591 pre-eclampsia ISO RGD:1352969 D RGD:11554173 20220111 CTD CTD Direct Evidence: marker/mechanism PMID:34520790
1303256 Prss27 serine protease 27 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1353298 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532
1303256 Prss27 serine protease 27 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532
1303256 Prss27 serine protease 27 gene DOID:1826 epilepsy ISO RGD:1353298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532
1303256 Prss27 serine protease 27 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353298 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532
1303257 Zc3h18 zinc finger CCCH-type containing 18 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1602304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532
1303257 Zc3h18 zinc finger CCCH-type containing 18 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1602304 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532
1303257 Zc3h18 zinc finger CCCH-type containing 18 gene DOID:13636 Fanconi anemia ISO RGD:1602304 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532
1303257 Zc3h18 zinc finger CCCH-type containing 18 gene DOID:14780 KBG syndrome ISO RGD:1602304 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:28492532|PMID:31690835
1303257 Zc3h18 zinc finger CCCH-type containing 18 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1602304 D RGD:8554872 20161213 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
1303258 Mid1ip1 MID1 interacting protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344749 D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
1303258 Mid1ip1 MID1 interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1344749 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1303258 Mid1ip1 MID1 interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344749 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1303258 Mid1ip1 MID1 interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344749 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303258 Mid1ip1 MID1 interacting protein 1 gene DOID:9006836 Contracture ISO RGD:1344749 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures
1303258 Mid1ip1 MID1 interacting protein 1 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1344749 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532
1303259 Atp5mg ATP synthase membrane subunit G gene DOID:0060017 CD3epsilon deficiency ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
1303259 Atp5mg ATP synthase membrane subunit G gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1352647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532
1303259 Atp5mg ATP synthase membrane subunit G gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1352647 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868
1303259 Atp5mg ATP synthase membrane subunit G gene DOID:0080690 RASopathy ISO RGD:1352647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532
1303259 Atp5mg ATP synthase membrane subunit G gene DOID:0081330 glycogen storage disease Ib ISO RGD:1352647 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532
1303259 Atp5mg ATP synthase membrane subunit G gene DOID:0110651 long QT syndrome 10 ISO RGD:1352647 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532
1303259 Atp5mg ATP synthase membrane subunit G gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
1303259 Atp5mg ATP synthase membrane subunit G gene DOID:0111971 immunodeficiency 18 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
1303259 Atp5mg ATP synthase membrane subunit G gene DOID:0111972 immunodeficiency 19 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
1303259 Atp5mg ATP synthase membrane subunit G gene DOID:0111973 immunodeficiency 17 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
1303259 Atp5mg ATP synthase membrane subunit G gene DOID:1059 intellectual disability ISO RGD:1352647 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1303259 Atp5mg ATP synthase membrane subunit G gene DOID:10652 Alzheimer's disease ISO RGD:1352647 D RGD:13792588|PMID:28474567 20190809 RGD
1303259 Atp5mg ATP synthase membrane subunit G gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:1352647 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 PMID:28492532
1303259 Atp5mg ATP synthase membrane subunit G gene DOID:9007661 Dwarfism ISO RGD:1352647 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362
1303260 Tomm22 translocase of outer mitochondrial membrane 22 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1342792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532
1303260 Tomm22 translocase of outer mitochondrial membrane 22 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1342792 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532
1303260 Tomm22 translocase of outer mitochondrial membrane 22 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1342792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532
1303260 Tomm22 translocase of outer mitochondrial membrane 22 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532
1303261 Rtcb RNA 2',3'-cyclic phosphate and 5'-OH ligase gene DOID:0070563 glucose-galactose malabsorption ISO RGD:1605075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532
1303261 Rtcb RNA 2',3'-cyclic phosphate and 5'-OH ligase gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1605075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532
1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1347109 D RGD:405866369|PMID:17761687 20240628 RGD DNA:SNPs:introns,exon:
1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:0050742 nicotine dependence ISO RGD:1347109 D RGD:401959295|PMID:25273375 20240118 RGD DNA:haplotype: :rs2282511(human)
1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1347109 D RGD:401959319|PMID:17085484 20240122 RGD DNA:SNPs,haplotype:introns,intergenics:multiple
1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1347109 D RGD:405866370|PMID:21168125 20240628 RGD DNA:SNPs::
1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1347109 D RGD:405866371|PMID:30104163 20240628 RGD DNA:SNP: :rs2236709(human)
1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1347109 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868
1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:0111857 primary ciliary dyskinesia 45 ISO RGD:1347109 D RGD:7240710 20200318 OMIM
1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:0111857 primary ciliary dyskinesia 45 ISO RGD:1347109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45 | ClinVar Annotator: match by term: TTC12-related condition PMID:1978331|PMID:25741868
1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:1059 intellectual disability ISO RGD:1347109 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:630 genetic disease ISO RGD:1347109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:9001513 Asthenozoospermia ISO RGD:1347109 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: asthenozoospermia PMID:25741868|PMID:37325566
1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:9002321 Teratozoospermia ISO RGD:1347109 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Teratozoospermia PMID:25741868|PMID:37325566
1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1347109 D RGD:405866376|PMID:17657212 20240701 RGD DNA:hypermethylation:5'end:CpG dinucleotide
1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:9974 drug dependence ISO RGD:1347109 D RGD:401959320|PMID:18828801 20240122 RGD associated with alcohol dependence;DNA:haplotype:exon:
1303264 Ttc12 tetratricopeptide repeat domain 12 gene DOID:9976 heroin dependence susceptibility ISO RGD:1347109 D RGD:401959304|PMID:23303482 20240118 RGD DNA:SNP:5'UTR,intron:rs7130431(human)
1303267 Dxo decapping exoribonuclease gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1348619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303268 Slc38a7 solute carrier family 38, member 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059
1303268 Slc38a7 solute carrier family 38, member 7 gene DOID:0080600 COVID-19 ISO RGD:1602480 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1303268 Slc38a7 solute carrier family 38, member 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059
1303268 Slc38a7 solute carrier family 38, member 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059
1303268 Slc38a7 solute carrier family 38, member 7 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1602480 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868
1303269 Mpig6b megakaryocyte and platelet inhibitory receptor G6b gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1354388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303269 Mpig6b megakaryocyte and platelet inhibitory receptor G6b gene DOID:2213 hemorrhagic disease ISO RGD:1354388 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868
1303269 Mpig6b megakaryocyte and platelet inhibitory receptor G6b gene DOID:630 genetic disease ISO RGD:1354388 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
1303269 Mpig6b megakaryocyte and platelet inhibitory receptor G6b gene DOID:9002422 Thrombocytopenia, Anemia, and Myelofibrosis ISO RGD:1354388 D RGD:7240710 20190315 OMIM
1303269 Mpig6b megakaryocyte and platelet inhibitory receptor G6b gene DOID:9002422 Thrombocytopenia, Anemia, and Myelofibrosis ISO RGD:1354388 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: MPIG6B-related condition | ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis PMID:23112346|PMID:25741868|PMID:27743390|PMID:28492532
1303270 Prr3 proline rich 3 gene DOID:11372 megacolon ISO RGD:1343981 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303271 Kdf1 keratinocyte differentiation factor 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1602654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532
1303271 Kdf1 keratinocyte differentiation factor 1 gene DOID:0111652 ectodermal dysplasia 12 ISO RGD:1602654 D RGD:7240710 20190315 OMIM
1303271 Kdf1 keratinocyte differentiation factor 1 gene DOID:0111652 ectodermal dysplasia 12 ISO RGD:1602654 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | ClinVar Annotator: match by term: KDF1-related condition PMID:25741868|PMID:27838789|PMID:28492532
1303271 Kdf1 keratinocyte differentiation factor 1 gene DOID:13714 anodontia ISO RGD:1602654 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:25741868
1303271 Kdf1 keratinocyte differentiation factor 1 gene DOID:630 genetic disease ISO RGD:1602654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
1303272 Mmadhc metabolism of cobalamin associated D gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1346733 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:16199547|PMID:18385497|PMID:22156578|PMID:25155779|PMID:25741868|PMID:28492532|PMID:32252256|PMID:33552904
1303272 Mmadhc metabolism of cobalamin associated D gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1346733 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303272 Mmadhc metabolism of cobalamin associated D gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1346733 D RGD:7240710 20130221 OMIM
1303272 Mmadhc metabolism of cobalamin associated D gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1346733 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD PMID:15292234|PMID:16199547|PMID:17576681|PMID:18385497|PMID:19058814|PMID:22156578|PMID:2339678|PMID:24033266|PMID:25155779|PMID:25741868|PMID:27252276|PMID:28492532|PMID:28939051|PMID:29620684|PMID:32252256|PMID:33552904|PMID:5524089|PMID:9536098
1303272 Mmadhc metabolism of cobalamin associated D gene DOID:630 genetic disease ISO RGD:1346733 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1303272 Mmadhc metabolism of cobalamin associated D gene DOID:655 inherited metabolic disorder ISO RGD:1346733 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:24033266|PMID:25741868|PMID:28492532
1303272 Mmadhc metabolism of cobalamin associated D gene DOID:9009058 methylmalonic acidemia cblD type ISO RGD:1346733 D RGD:7240710 20241009 OMIM
1303272 Mmadhc metabolism of cobalamin associated D gene DOID:9009058 methylmalonic acidemia cblD type ISO RGD:1346733 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, cblD TYPE PMID:15292234|PMID:18385497|PMID:2339678|PMID:25741868
1303272 Mmadhc metabolism of cobalamin associated D gene DOID:9009229 Homocystinuria-megaloblastic anemia cblD type ISO RGD:1346733 D RGD:7240710 20241009 OMIM
1303272 Mmadhc metabolism of cobalamin associated D gene DOID:9009229 Homocystinuria-megaloblastic anemia cblD type ISO RGD:1346733 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblD TYPE PMID:15292234|PMID:18385497|PMID:22156578|PMID:25155779|PMID:25741868|PMID:28492532
1303273 Pard6a par-6 family cell polarity regulator alpha gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1345737 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868
1303273 Pard6a par-6 family cell polarity regulator alpha gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1345737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532
1303273 Pard6a par-6 family cell polarity regulator alpha gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1345737 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0050696 fetal alcohol spectrum disorder IEP D RGD:11344152|PMID:26509893 20240130 RGD mRNA:increased expression:pituitary gland (rat)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1606037 D RGD:9589082|PMID:19626461 20141106 RGD DNA:SNP: : 39179G>T(human)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1606037 D RGD:9589120|PMID:24625449 20141107 RGD
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1606037 D RGD:9589120|PMID:24625449 20141107 RGD
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606037 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:32431489
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0060041 autism spectrum disorder ISO RGD:1606037 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:25290267|PMID:35663546
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0060918 facioscapulohumeral muscular dystrophy 4 ISO RGD:1606037 D RGD:7240710 20210825 OMIM
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0060918 facioscapulohumeral muscular dystrophy 4 ISO RGD:1606037 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 4, digenic PMID:25741868|PMID:27153398|PMID:28492532
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0080699 glutathione synthetase deficiency ISO RGD:1606037 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA PMID:12638941|PMID:15717202|PMID:28492532
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria ISO RGD:1606037 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY PMID:12638941|PMID:15717202|PMID:28492532
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome ISO RGD:1606037 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Centromeric instability, immunodeficiency syndrome PMID:17576681|PMID:24577265|PMID:25741868|PMID:28492532|PMID:31681265|PMID:9536098
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1606037 D RGD:1601084|PMID:10647011 20150730 RGD DNA:missense mutations, nonsense mutation: :multiple
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1606037 D RGD:7240710 20130221 OMIM
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1606037 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | ClinVar Annotator: match by term: Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16 | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 PMID:10555141|PMID:10588719|PMID:10647011|PMID:11038463|PMID:11102980|PMID:11741835|PMID:11919202|PMID:12239717|PMID:12925568|PMID:15580563|PMID:16199547|PMID:16501171|PMID:16543361|PMID:17576681|PMID:17893117|PMID:17908720|PMID:21549127|PMID:21559330|PMID:23486536|PMID:24033266|PMID:24577265|PMID:25640679|PMID:25741868|PMID:26851945|PMID:27153398|PMID:27479843|PMID:27734333|PMID:28128455|PMID:28454995|PMID:28492532|PMID:28713390|PMID:28916186|PMID:29255178|PMID:29659838|PMID:30010917|PMID:30630233|PMID:31681265|PMID:31686314|PMID:32135276|PMID:32360517|PMID:32888943|PMID:3361388|PMID:9536098
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISS RGD:1551604 D RGD:13592920 20230718 MouseDO OMIM:242860
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:1324 lung cancer disease_progression ISO RGD:1606037 D RGD:9588658|PMID:24548441 20141104 RGD protein:increased expression:lung:
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:14654 prostatitis IEP D RGD:9588290|PMID:20056826 20141024 RGD mRNA,protein:increased expression:prostate gland ventral lobe:
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:1682 congenital heart disease IEP D RGD:9588314|PMID:23333085 20141028 RGD associated with Vitamin A Deficiency; mRNA:decreased expression:heart:
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:2030 anxiety disorder IEP D RGD:9588317|PMID:23529784 20141028 RGD mRNA:decreased expression:hypothalamus:
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:2526 prostate adenocarcinoma ISO RGD:1551604 D RGD:2289681|PMID:17178860 20141107 RGD mRNA,protein:increased expression:prostate gland:
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:288 endometriosis of uterus ISO RGD:1606037 D RGD:9588664|PMID:22572543 20141104 RGD protein:increased expression:ectopic endometrium:
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:289 endometriosis ISO RGD:1606037 D RGD:9588669|PMID:17081533 20141104 RGD mRNA:increased expression:endometrium:
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:305 carcinoma ISO RGD:1606037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21458988
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:3275 thymoma susceptibility ISO RGD:1606037 D RGD:9589098|PMID:24260492 20141107 RGD associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1606037 D RGD:9589121|PMID:22919364 20141107 RGD
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1606037 D RGD:9589085|PMID:22213175 20141106 RGD protein:increased expression:nucleus:
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1606037 D RGD:9589086|PMID:15528220 20141106 RGD DNA:SNPs,haplotype:promoter:-283T >C,-579G>T(human)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1606037 D RGD:9589086|PMID:15528220 20141106 RGD DNA:SNPs:promoter:-283T >C,-579G>T(human)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:5419 schizophrenia susceptibility ISO RGD:1606037 D RGD:9589091|PMID:19576953 20141106 RGD DNA:SNP,haplotype: :(rs6119954),(rs2424908)(human)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1606037 D RGD:9589078|PMID:18455294 20141106 RGD DNA:SNP,haplotype:promoter:-149C>T,-579G>T(human)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:612 primary immunodeficiency disease ISO RGD:1606037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17908720
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:630 genetic disease ISO RGD:1606037 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24577265|PMID:25741868|PMID:27479843|PMID:28492532|PMID:31681265|PMID:31686314
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:6705 gastric body carcinoma ISO RGD:1606037 D RGD:9589084|PMID:20127025 20141106 RGD
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:684 hepatocellular carcinoma IEP D RGD:2289670|PMID:11844796 20170113 RGD mRNA, protein:increased expression:liver
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:684 hepatocellular carcinoma ISO RGD:1606037 D RGD:9588598|PMID:15885882 20141031 RGD mRNA:increased expression:liver:
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:1606037 D RGD:9589110|PMID:19777235 20141107 RGD DNA:polymorphism:promoter:-283C>T(human)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1606037 D RGD:9588667|PMID:11222358 20141104 RGD
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:8923 skin melanoma disease_progression ISO RGD:1606037 D RGD:9589074|PMID:21081840 20141106 RGD
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1606037 D RGD:9588662|PMID:18683034 20141104 RGD mRNA:decreased expression:mononuclear cell
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:1606037 D RGD:9589094|PMID:23000068 20141107 RGD DNA:SNP:promoter: -579G>T(human)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9000081 Lymphatic Metastasis ISO RGD:1606037 D RGD:9589121|PMID:22919364 20141107 RGD associated with Carcinoma, Pancreatic Ductal;
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9000217 Stomach Neoplasms ISO RGD:1606037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21458988
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606037 D RGD:9589117|PMID:22330137 20141107 RGD associated with Uterine Cervical Neoplasms;
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9001030 Multiple Primary Neoplasms treatment ISO RGD:1606037 D RGD:9589077|PMID:22009713 20141106 RGD associated with Head and Neck Neoplasms;DNA:SNP: :149C>T(rs2424913)(human)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606037 D RGD:8554872 20191224 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532|PMID:29255178
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606037 D RGD:9589146|PMID:15467427 20141110 RGD mRNA:decreased expression: B cell
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9002231 Fetal Growth Retardation IEP D RGD:9590296|PMID:24717552 20141124 RGD mRNA:increased expression:adrenal gland:
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16012746
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9003036 Oral Lichen Planus ISO RGD:1606037 D RGD:9589075|PMID:22236544 20141106 RGD protein:increased expression:mouth mucosa:
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9003036 Oral Lichen Planus susceptibility ISO RGD:1606037 D RGD:9589075|PMID:22236544 20141106 RGD DNA:polymorphism: :C46359T(human)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1606037 D RGD:9589117|PMID:22330137 20141107 RGD mRNA:increased expression:uterine cervix:
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9003373 Uterine Cervical Neoplasms susceptibility ISO RGD:1606037 D RGD:9589114|PMID:23677709 20141107 RGD DNA:SNP: :46359C>T(human)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1606037 D RGD:9588596|PMID:15721400 20141031 RGD mRNA,protein:increased expression:uterus:
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9005233 Experimental Mammary Neoplasms treatment IEP D RGD:9588304|PMID:24447120 20141027 RGD
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606037 D RGD:11554173 20180828 CTD CTD Direct Evidence: marker/mechanism PMID:29892016
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9007456 Female Infertility ISO RGD:1606037 D RGD:11554173 20221004 CTD CTD Direct Evidence: marker/mechanism PMID:34773530
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9007715 Endometrial Neoplasms ISO RGD:1606037 D RGD:9588596|PMID:15721400 20141031 RGD mRNA,protein:decreased expression:uterus:
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1606037 D RGD:9589079|PMID:18662374 20141106 RGD DNA:SNP:promoter:-579G>T(human)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1606037 D RGD:9589147|PMID:19843671 20141110 RGD DNA:SNP: :rs406193(human)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9008644 Dysmenorrhea ISO RGD:1606037 D RGD:9588664|PMID:22572543 20141104 RGD protein:increased expression:ectopic endometrium:
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1606037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17908720
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9008939 Breast Neoplasms ISO RGD:1606037 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18221536|PMID:22520950
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia ISO RGD:1606037 D RGD:9588667|PMID:11222358 20141104 RGD mRNA:increased expression:CD34+ bone marrow cells
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606037 D RGD:9589071|PMID:23251566 20141106 RGD
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1606037 D RGD:9589103|PMID:24069326 20141107 RGD DNA:SNPs,haplotype: :rs1569686,rs2424908, rs6087990, rs6119954(human)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1606037 D RGD:9589108|PMID:16194411 20141107 RGD DNA:SNP:promoter: C>T46359(human)
1303274 Dnmt3b DNA methyltransferase 3 beta gene DOID:9744 type 1 diabetes mellitus ISO RGD:1606037 D RGD:9589109|PMID:21864931 20141107 RGD mRNA:increased expression:CD4+ T cell:
1303275 Eml5 EMAP like 5 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1350172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532
1303275 Eml5 EMAP like 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350172 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532
1303276 Usp19 ubiquitin specific peptidase 19 gene DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P ISO RGD:1344113 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P PMID:20234391|PMID:25614308|PMID:25934851|PMID:28492532
1303276 Usp19 ubiquitin specific peptidase 19 gene DOID:0111585 carnitine-acylcarnitine translocase deficiency ISO RGD:1344113 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency PMID:20234391|PMID:25614308|PMID:25934851|PMID:28492532
1303276 Usp19 ubiquitin specific peptidase 19 gene DOID:2843 long QT syndrome ISO RGD:1344113 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555
1303276 Usp19 ubiquitin specific peptidase 19 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344113 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532
1303276 Usp19 ubiquitin specific peptidase 19 gene DOID:9001793 Generalized Epilepsy ISO RGD:1344113 D RGD:8554872 20170307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy
1303282 Notch4 notch receptor 4 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1354309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303282 Notch4 notch receptor 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1354309 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546
1303282 Notch4 notch receptor 4 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1354309 D RGD:2299156|PMID:17440163 20080813 RGD
1303282 Notch4 notch receptor 4 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1354309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868|PMID:27231971
1303282 Notch4 notch receptor 4 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1553588 D RGD:6480671|PMID:19546852 20120330 RGD
1303282 Notch4 notch receptor 4 gene DOID:0060688 arteriovenous malformations of the brain ISS RGD:1553588 D RGD:13592920 20240425 MouseDO OMIM:108010
1303282 Notch4 notch receptor 4 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1354309 D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532
1303282 Notch4 notch receptor 4 gene DOID:10487 Hirschsprung's disease ISO RGD:1354309 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon
1303282 Notch4 notch receptor 4 gene DOID:1307 dementia ISO RGD:1354309 D RGD:6480775|PMID:21297263 20120403 RGD
1303282 Notch4 notch receptor 4 gene DOID:1380 endometrial cancer ISO RGD:1354309 D RGD:2299153|PMID:11078798 20080813 RGD mRNA:decreased expression:endometrium
1303282 Notch4 notch receptor 4 gene DOID:1749 squamous cell carcinoma ISO RGD:1354309 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27923803
1303282 Notch4 notch receptor 4 gene DOID:2349 arteriosclerosis ISO RGD:1354309 D RGD:6480862|PMID:18802018 20120405 RGD
1303282 Notch4 notch receptor 4 gene DOID:2377 multiple sclerosis ISO RGD:1354309 D RGD:6480692|PMID:21654846 20120402 RGD DNA: snps: cds: rs422951
1303282 Notch4 notch receptor 4 gene DOID:264 hemangiopericytoma ISO RGD:1354309 D RGD:155663351|PMID:26951238 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe
1303282 Notch4 notch receptor 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19208345
1303282 Notch4 notch receptor 4 gene DOID:418 systemic scleroderma ISO RGD:1354309 D RGD:6480691|PMID:21779181 20120402 RGD DNA: SNPs: non-coding :multiple
1303282 Notch4 notch receptor 4 gene DOID:5241 hemangioblastoma ISO RGD:1354309 D RGD:155641257|PMID:27388534 20221107 RGD mRNA,protein:increased expression:temporal lobe :
1303282 Notch4 notch receptor 4 gene DOID:5419 schizophrenia ISO RGD:1354309 D RGD:1358753|PMID:14732589 19990101 RGD DNA:snps, haplotype:5' utr:g.-1725T>G, g.-25T>C (human)
1303282 Notch4 notch receptor 4 gene DOID:5419 schizophrenia ISO RGD:1354309 D RGD:6480689|PMID:16894623 20120330 RGD DNA: SNP: intron: rs520692
1303282 Notch4 notch receptor 4 gene DOID:5419 schizophrenia no_association ISO RGD:1353409 D RGD:6480690|PMID:15211628 20120402 RGD DNA: SNPs: :five SNPs in a Japanese population
1303282 Notch4 notch receptor 4 gene DOID:5419 schizophrenia susceptibility ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA:snps, haplotype:5' utr:g.-1725T>G, g.-25T>C (human) PMID:14732589|REF_RGD_ID:1358753
1303282 Notch4 notch receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1354309 D RGD:6480790|PMID:20132067 20120403 RGD mRNA : increased expression: : cd4+ cells
1303282 Notch4 notch receptor 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1553588 D RGD:2299155|PMID:8030284 20080813 RGD DNA, mRNA:mutation, alternative form
1303282 Notch4 notch receptor 4 gene DOID:9004464 Skin Neoplasms ISO RGD:1354309 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27923803
1303282 Notch4 notch receptor 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1354309 D RGD:2299154|PMID:15531924 20080813 RGD
1303282 Notch4 notch receptor 4 gene DOID:9008782 AIDS-Associated Nephropathy IEP D RGD:6480788|PMID:20706108 20120403 RGD protein: increased expression: kidney
1303282 Notch4 notch receptor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1354309 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21036696|PMID:21679465
1303282 Notch4 notch receptor 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1354309 D RGD:6480791|PMID:19143814 20120403 RGD DNA: SNP: 5' utr: rs2395106
1303282 Notch4 notch receptor 4 gene DOID:986 alopecia areata ISO RGD:1354309 D RGD:6480681|PMID:12589427 20120330 RGD
1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:0070264 congenital disorder of glycosylation type IIl ISO RGD:1346233 D RGD:7240710 20140911 OMIM
1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:0070264 congenital disorder of glycosylation type IIl ISO RGD:1346233 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: COG6-CGD PMID:16199547|PMID:17576681|PMID:20605848|PMID:23430903|PMID:23606727|PMID:24033266|PMID:24667118|PMID:24667119|PMID:25558065|PMID:25741868|PMID:26260076|PMID:26937396|PMID:28492532|PMID:30426380|PMID:9536098
1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:1059 intellectual disability ISO RGD:1346233 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:23606727|PMID:25558065|PMID:25741868
1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:11155 hypohidrosis ISO RGD:1346233 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypohidrosis PMID:23606727|PMID:25558065|PMID:25741868
1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1346233 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:24033266|PMID:25741868|PMID:28492532
1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:630 genetic disease ISO RGD:1346233 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26260076|PMID:28492532
1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:9001463 Shaheen Syndrome ISO RGD:1346233 D RGD:7240710 20140911 OMIM
1303283 Cog6 component of oligomeric golgi complex 6 gene DOID:9001463 Shaheen Syndrome ISO RGD:1346233 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Shaheen syndrome PMID:16199547|PMID:17576681|PMID:23606727|PMID:24033266|PMID:25558065|PMID:25741868|PMID:26260076|PMID:26937396|PMID:28492532|PMID:30426380|PMID:9536098
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:0070355 overactive bladder syndrome IMP D RGD:10043365|PMID:21367919 20150526 RGD
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:1344231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21367919|PMID:23523557
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:0111729 familial episodic pain syndrome 1 ISO RGD:1344231 D RGD:7240710 20140911 OMIM
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:0111729 familial episodic pain syndrome 1 ISO RGD:1344231 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial episodic pain syndrome 1 | ClinVar Annotator: match by term: TRPA1-related condition PMID:20547126|PMID:25741868|PMID:36430572
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:2841 asthma ISO RGD:1344231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19458046
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:2841 asthma severity IMP D RGD:127285811|PMID:31969645 20210708 RGD ovalbumin sensitization
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9000039 Spinal Cord Injuries IEP D RGD:10043365|PMID:21367919 20150526 RGD mRNA,protein:increased expression:urinary bladder, dorsal root ganglion:
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9000133 Sneezing ISO RGD:1344231 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27545873
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9000194 Cold Hypersensitivity IMP D RGD:10043615|PMID:21068322 20150527 RGD associated with Peripheral Nerve Injuries;
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9000641 Pain ISO RGD:1344231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20601631
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19458046
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9001240 Peripheral Nerve Injuries IEP D RGD:10043379|PMID:18514429 20150526 RGD protein:increased expression:dorsal root ganglion:
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9002211 Hyperalgesia IMP D RGD:10043618|PMID:18954467 20150527 RGD associated with Peripheral Nerve Injuries;
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9002211 Hyperalgesia ISO RGD:1344231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18234885|PMID:21481532|PMID:23523557
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9005372 Inflammation ISO RGD:1344231 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20601631
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9005734 Abdominal Pain IDA D RGD:10043376|PMID:24291101 20150526 RGD
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9007073 Cough ISO RGD:1344231 D RGD:11554173 20170516 CTD CTD Direct Evidence: marker/mechanism PMID:27545873
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9008820 Visceral Pain IMP D RGD:10043788|PMID:23099257 20150528 RGD associated with Colitis;
1303284 Trpa1 transient receptor potential cation channel, subfamily A, member 1 gene DOID:9743 diabetic neuropathy IMP D RGD:10043378|PMID:22133672 20150526 RGD
1303286 Esam endothelial cell adhesion molecule gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1348841 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868
1303286 Esam endothelial cell adhesion molecule gene DOID:0110877 holoprosencephaly 11 ISO RGD:1348841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532
1303286 Esam endothelial cell adhesion molecule gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348841 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362
1303286 Esam endothelial cell adhesion molecule gene DOID:5419 schizophrenia ISO RGD:1348841 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21822266
1303286 Esam endothelial cell adhesion molecule gene DOID:5419 schizophrenia ISO RGD:1348841 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1303286 Esam endothelial cell adhesion molecule gene DOID:9003965 NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY ISO RGD:1348841 D RGD:7240710 20230719 OMIM
1303286 Esam endothelial cell adhesion molecule gene DOID:9003965 NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY ISO RGD:1348841 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity PMID:25741868|PMID:36996813
1303286 Esam endothelial cell adhesion molecule gene DOID:9007661 Dwarfism ISO RGD:1348841 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362
1303287 Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1348475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303287 Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 gene DOID:13641 exfoliation syndrome ISO RGD:1348475 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28553957
1303288 Spink14 serine peptidase inhibitor, Kazal type 14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1303288 Spink14 serine peptidase inhibitor, Kazal type 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601681 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303288 Spink14 serine peptidase inhibitor, Kazal type 14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1303289 Nenf neudesin neurotrophic factor gene DOID:1540 parathyroid carcinoma ISO RGD:1603399 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1303289 Nenf neudesin neurotrophic factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603399 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1303290 Klhl10 kelch-like family member 10 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1344199 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588
1303290 Klhl10 kelch-like family member 10 gene DOID:0070180 spermatogenic failure 11 ISO RGD:1344199 D RGD:7240710 20140903 OMIM
1303290 Klhl10 kelch-like family member 10 gene DOID:0070180 spermatogenic failure 11 ISO RGD:1344199 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: KLHL10-related condition | ClinVar Annotator: match by term: Spermatogenic failure 11 PMID:17047026|PMID:25741868|PMID:28492532|PMID:31479588
1303292 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1353803 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF PMID:28492532
1303292 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1353803 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532
1303292 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112094 nuclear type mitochondrial complex I deficiency 14 ISO RGD:1353803 D RGD:7240710 20190315 OMIM
1303292 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112094 nuclear type mitochondrial complex I deficiency 14 ISO RGD:1353803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | ClinVar Annotator: match by term: NDUFA11-related condition PMID:17576681|PMID:18306244|PMID:25741868|PMID:28492532|PMID:32712949|PMID:9536098
1303292 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:2033 communication disorder ISO RGD:1353803 D RGD:401854249|PMID:35642741 20231106 RGD DNA:SNP:CDS:multiple (human)
1303293 Tbc1d20 TBC1 domain family, member 20 gene DOID:0060237 Warburg micro syndrome ISO RGD:1346411 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism
1303293 Tbc1d20 TBC1 domain family, member 20 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1346411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532
1303293 Tbc1d20 TBC1 domain family, member 20 gene DOID:0110719 Warburg micro syndrome 4 ISO RGD:1346411 D RGD:7240710 20140911 OMIM
1303293 Tbc1d20 TBC1 domain family, member 20 gene DOID:0110719 Warburg micro syndrome 4 ISO RGD:1346411 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: TBC1D20-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 4 PMID:24239381|PMID:25741868|PMID:28492532|PMID:32740904
1303293 Tbc1d20 TBC1 domain family, member 20 gene DOID:0110719 Warburg micro syndrome 4 ISS RGD:1551722 D RGD:13592920 20230718 MouseDO OMIM:615663
1303293 Tbc1d20 TBC1 domain family, member 20 gene DOID:630 genetic disease ISO RGD:1346411 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1303293 Tbc1d20 TBC1 domain family, member 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346411 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303293 Tbc1d20 TBC1 domain family, member 20 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1346411 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:23104095|PMID:2379848|PMID:23889995|PMID:28492532
1303295 S100a11 S100 calcium binding protein A11 gene DOID:0080600 COVID-19 ISO RGD:1323591 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422
1303295 S100a11 S100 calcium binding protein A11 gene DOID:0111940 immunodeficiency 42 ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532
1303295 S100a11 S100 calcium binding protein A11 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532
1303295 S100a11 S100 calcium binding protein A11 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532
1303295 S100a11 S100 calcium binding protein A11 gene DOID:1540 parathyroid carcinoma ISO RGD:1323591 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1303295 S100a11 S100 calcium binding protein A11 gene DOID:5812 MHC class II deficiency ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532
1303295 S100a11 S100 calcium binding protein A11 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1303295 S100a11 S100 calcium binding protein A11 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1323591 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:20388789
1303295 S100a11 S100 calcium binding protein A11 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1323591 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25226513
1303295 S100a11 S100 calcium binding protein A11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323591 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1303296 Hspa14 heat shock protein family A (Hsp70) member 14 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:38549391 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868
1303296 Hspa14 heat shock protein family A (Hsp70) member 14 gene DOID:403 mouth disease ISO RGD:38549391 D RGD:11554173 20220614 CTD CTD Direct Evidence: marker/mechanism PMID:17682004
1303297 Krt2 keratin 2 gene DOID:0060877 bullous congenital ichthyosiform erythroderma ISO RGD:1342754 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303297 Krt2 keratin 2 gene DOID:0060877 bullous congenital ichthyosiform erythroderma ISO RGD:1342754 D RGD:7240710 20130221 OMIM
1303297 Krt2 keratin 2 gene DOID:0060877 bullous congenital ichthyosiform erythroderma ISO RGD:1342754 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens | ClinVar Annotator: match by term: KRT2-related condition | ClinVar Annotator: match by term: Superficial epidermolytic ichthyosis PMID:10233323|PMID:10620137|PMID:11531804|PMID:1380918|PMID:2004005|PMID:25741868|PMID:26581228|PMID:28492532|PMID:29444371|PMID:31953843|PMID:7521371|PMID:7524919|PMID:8077693|PMID:9204966|PMID:9804344
1303297 Krt2 keratin 2 gene DOID:0060877 bullous congenital ichthyosiform erythroderma ISS RGD:1553683 D RGD:13592920 20230718 MouseDO OMIM:146800
1303297 Krt2 keratin 2 gene DOID:0070523 peeling skin syndrome 4 ISO RGD:1342754 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Exfoliative ichthyosis PMID:10233323|PMID:2004005|PMID:26581228|PMID:28492532|PMID:29444371|PMID:31953843|PMID:7521371|PMID:7524919|PMID:8077693
1303297 Krt2 keratin 2 gene DOID:1697 ichthyosis susceptibility ISO RGD:1342754 D RGD:1600192|PMID:7524919 20070302 RGD DNA:mutations
1303297 Krt2 keratin 2 gene DOID:2773 contact dermatitis ISO RGD:1342754 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174
1303297 Krt2 keratin 2 gene DOID:630 genetic disease ISO RGD:1342754 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
1303298 Arl10 ARF like GTPase 10 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145
1303298 Arl10 ARF like GTPase 10 gene DOID:14748 Sotos syndrome ISO RGD:1344087 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145
1303301 Pan2 poly(A) specific ribonuclease subunit PAN2 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1348496 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532
1303301 Pan2 poly(A) specific ribonuclease subunit PAN2 gene DOID:0110251 cataract 15 multiple types ISO RGD:1348496 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Cataract 15 multiple types PMID:28492532
1303301 Pan2 poly(A) specific ribonuclease subunit PAN2 gene DOID:13580 cholestasis ISO RGD:1348496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866
1303301 Pan2 poly(A) specific ribonuclease subunit PAN2 gene DOID:607 paraplegia ISO RGD:1348496 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532
1303301 Pan2 poly(A) specific ribonuclease subunit PAN2 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1348496 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532
1303301 Pan2 poly(A) specific ribonuclease subunit PAN2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348496 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26881866
1303302 Nrg2 neuregulin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606028 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868
1303302 Nrg2 neuregulin 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1606028 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532
1303302 Nrg2 neuregulin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1303302 Nrg2 neuregulin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606028 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303302 Nrg2 neuregulin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285
1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532
1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:1059 intellectual disability ISO RGD:1606812 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild
1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:12177 common variable immunodeficiency ISO RGD:1606812 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532
1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:2729 dyskeratosis congenita ISO RGD:1606812 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532
1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1606812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532
1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1606812 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate
1303303 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:9003915 Faundes-Banka Syndrome ISO RGD:1606812 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Faundes-Banka syndrome PMID:31690835
1303304 Gpank1 G patch domain and ankyrin repeats 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1321766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303304 Gpank1 G patch domain and ankyrin repeats 1 gene DOID:11372 megacolon ISO RGD:1321766 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303306 Cuta cutA divalent cation tolerance homolog gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1346513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303306 Cuta cutA divalent cation tolerance homolog gene DOID:0060009 MHC class I deficiency ISO RGD:1346513 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: MHC class I deficiency PMID:28492532
1303306 Cuta cutA divalent cation tolerance homolog gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1346513 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532
1303308 Tspan1 tetraspanin 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:15466003|PMID:17576681|PMID:17878207|PMID:17906881|PMID:18195152|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:30961548|PMID:34324503|PMID:9536098
1303308 Tspan1 tetraspanin 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1354320 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:17878207|PMID:18195152|PMID:18691338|PMID:19067344|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532
1303308 Tspan1 tetraspanin 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1354320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098
1303308 Tspan1 tetraspanin 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1354320 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:26990548|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31230720|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:34426522|PMID:9536098
1303308 Tspan1 tetraspanin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532
1303308 Tspan1 tetraspanin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354320 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868
1303308 Tspan1 tetraspanin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1354320 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532
1303308 Tspan1 tetraspanin 1 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1354320 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18330676|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:22323514|PMID:22522420|PMID:23326386|PMID:23689641|PMID:23894383|PMID:24731844|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26990548|PMID:27391550|PMID:27493216|PMID:27604308|PMID:28424332|PMID:28492532|PMID:28765568|PMID:29302074|PMID:30961548|PMID:31066047|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32404165|PMID:33144682|PMID:33200426
1303308 Tspan1 tetraspanin 1 gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1354320 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22819665|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:26990548|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31069529|PMID:3123072|PMID:31230720|PMID:31589614|PMID:31872526|PMID:31964843|PMID:31980526|PMID:32115343|PMID:32404165|PMID:33077954|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:34426522|PMID:35846108|PMID:36819107|PMID:9536098
1303308 Tspan1 tetraspanin 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1354320 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:17878207|PMID:25741868|PMID:28492532
1303308 Tspan1 tetraspanin 1 gene DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A ISO RGD:1354320 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies PMID:11709191|PMID:12588800|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17559086|PMID:17878207|PMID:17881266|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:23326386|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26908613|PMID:26990548|PMID:27391550|PMID:27604308|PMID:28492532|PMID:30961548|PMID:31589614|PMID:31980526|PMID:33144682
1303308 Tspan1 tetraspanin 1 gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1354320 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426|PMID:34324503|PMID:9536098
1303308 Tspan1 tetraspanin 1 gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1354320 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426|PMID:34324503|PMID:36819107|PMID:9536098
1303308 Tspan1 tetraspanin 1 gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1354320 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:26990548|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30961548|PMID:31066047|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32404165|PMID:33144682|PMID:33200426|PMID:34324503|PMID:36819107|PMID:9536098
1303308 Tspan1 tetraspanin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532
1303308 Tspan1 tetraspanin 1 gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1354320 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22819665|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24282183|PMID:24731844|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:26990548|PMID:27391550|PMID:27493216|PMID:27604308|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31069529|PMID:31230720|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:34426522|PMID:9536098
1303308 Tspan1 tetraspanin 1 gene DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 ISO RGD:1354320 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:26990548|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31069529|PMID:3123072|PMID:31230720|PMID:31589614|PMID:31964843|PMID:31980526|PMID:33144682|PMID:34324503|PMID:34426522|PMID:9536098
1303308 Tspan1 tetraspanin 1 gene DOID:1059 intellectual disability ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17878207|PMID:25741868|PMID:28492532
1303308 Tspan1 tetraspanin 1 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1354320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy
1303308 Tspan1 tetraspanin 1 gene DOID:5723 optic atrophy ISO RGD:1354320 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532
1303308 Tspan1 tetraspanin 1 gene DOID:630 genetic disease ISO RGD:1354320 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15466003|PMID:17576681|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:22554691|PMID:22819665|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29096039|PMID:29555514|PMID:33413009|PMID:9536098
1303308 Tspan1 tetraspanin 1 gene DOID:8501 fundus dystrophy ISO RGD:1354320 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11709191|PMID:12588800|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17559086|PMID:17878207|PMID:17881266|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21361872|PMID:21447391|PMID:22323514|PMID:22819665|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26990548|PMID:27391550|PMID:27493216|PMID:27604308|PMID:28492532|PMID:29096039|PMID:29302074|PMID:30937090|PMID:30961548|PMID:31066047|PMID:3123072|PMID:31230720|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32404165|PMID:33144682|PMID:33200426|PMID:34426522
1303308 Tspan1 tetraspanin 1 gene DOID:9001993 Retinitis Pigmentosa 76 ISO RGD:1354320 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 76 PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:24033266|PMID:24123366|PMID:24282183|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:26990548|PMID:27391550|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28832562|PMID:30961548|PMID:31589614|PMID:31964843|PMID:31980526|PMID:33144682|PMID:36819107|PMID:9536098
1303308 Tspan1 tetraspanin 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1354320 D RGD:1331679|PMID:12115476 20150205 RGD
1303308 Tspan1 tetraspanin 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1354320 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Hypotonia
1303308 Tspan1 tetraspanin 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1354320 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868
1303308 Tspan1 tetraspanin 1 gene DOID:9281 phenylketonuria ISO RGD:1354320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868
1303309 Gtf2h4 general transcription factor 2H subunit 4 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1352501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303309 Gtf2h4 general transcription factor 2H subunit 4 gene DOID:11372 megacolon ISO RGD:1352501 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303310 Nfkbil1 NFKB inhibitor like 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1351897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303310 Nfkbil1 NFKB inhibitor like 1 gene DOID:11372 megacolon ISO RGD:1351897 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303310 Nfkbil1 NFKB inhibitor like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1351897 D RGD:11554173 20190402 CTD CTD Direct Evidence: marker/mechanism
1303310 Nfkbil1 NFKB inhibitor like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1351897 D RGD:1331681|PMID:12509789 19990101 RGD DNA:snp:promoter:c.-132T>A (rs2071592) (human)
1303310 Nfkbil1 NFKB inhibitor like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1351897 D RGD:8554872 20141006 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:12509789
1303310 Nfkbil1 NFKB inhibitor like 1 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1351897 D RGD:7240710 20190329 OMIM
1303311 Lrrc46 leucine rich repeat containing 46 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1602198 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859
1303311 Lrrc46 leucine rich repeat containing 46 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602198 D RGD:11554173 20190611 CTD CTD Direct Evidence: marker/mechanism PMID:31043753
1303312 Etfb electron transfer flavoprotein subunit beta gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347524 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303312 Etfb electron transfer flavoprotein subunit beta gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347524 D RGD:7240710 20130221 OMIM
1303312 Etfb electron transfer flavoprotein subunit beta gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347524 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Glutaric acidemia IIb | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:12706375|PMID:12815589|PMID:16199547|PMID:16510302|PMID:17576681|PMID:17638024|PMID:18289905|PMID:19088074|PMID:19763152|PMID:20307669|PMID:20674745|PMID:22406018|PMID:22588007|PMID:23785301|PMID:24033266|PMID:24215330|PMID:25741868|PMID:27081516|PMID:28492532|PMID:30626930|PMID:31418342|PMID:31589614|PMID:32778825|PMID:35095998|PMID:35281663|PMID:7912128|PMID:9350306|PMID:9536098
1303312 Etfb electron transfer flavoprotein subunit beta gene DOID:630 genetic disease ISO RGD:1347524 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1303312 Etfb electron transfer flavoprotein subunit beta gene DOID:784 chronic kidney disease ISO RGD:1347524 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:24215330|PMID:25741868|PMID:28492532
1303313 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:0070421 neurodevelopmental disorder with spasticity and poor growth ISO RGD:1604819 D RGD:7240710 20190315 OMIM
1303313 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:0070421 neurodevelopmental disorder with spasticity and poor growth ISO RGD:1604819 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity and poor growth | ClinVar Annotator: match by term: UFC1-related condition PMID:25741868|PMID:27431290|PMID:29868776
1303313 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532
1303313 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604819 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1303313 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604819 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1303314 Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1342599 D RGD:11572212|PMID:26943237 20181226 RGD DNA:hypermethylation:promoter:
1303314 Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1342599 D RGD:13831335|PMID:11130185 20181226 RGD protein:decreased expression:temporal cortex
1303314 Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1342599 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
1303314 Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:9000233 PARKINSONISM WITH POLYNEUROPATHY ISO RGD:1342599 D RGD:7240710 20210519 OMIM
1303314 Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:9000233 PARKINSONISM WITH POLYNEUROPATHY ISO RGD:1342599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism with polyneuropathy PMID:25741868|PMID:33141179
1303314 Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342599 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532
1303314 Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1342599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532
1303315 Tmem30a transmembrane protein 30A gene DOID:0060948 Ullrich congenital muscular dystrophy 2 ISO RGD:1345323 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 PMID:28492532
1303316 Krt81 keratin 81 gene DOID:0050472 monilethrix ISO RGD:1352979 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303316 Krt81 keratin 81 gene DOID:0050472 monilethrix ISO RGD:1352979 D RGD:7240710 20130221 OMIM
1303316 Krt81 keratin 81 gene DOID:0050472 monilethrix ISO RGD:1352979 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: KRT86-related condition | ClinVar Annotator: match by term: Nodose hair PMID:10469314|PMID:10594761|PMID:10878478|PMID:15744029|PMID:19400537|PMID:25326635|PMID:25741868|PMID:7556444|PMID:9241275|PMID:9402962|PMID:9457912|PMID:9665406
1303316 Krt81 keratin 81 gene DOID:1612 breast cancer susceptibility ISO RGD:1352979 D RGD:155882455|PMID:32678982 20230119 RGD DNA:SNP:3'UTR:rs3660(human)
1303316 Krt81 keratin 81 gene DOID:421 hair disease susceptibility ISO RGD:1352979 D RGD:1600197|PMID:9402962 20070302 RGD protein:mutation: ; E403K; monilethrix, OMIM:158000
1303316 Krt81 keratin 81 gene DOID:630 genetic disease ISO RGD:1352979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
1303317 Atf6b activating transcription factor 6 beta gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1346168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303318 Tusc3 tumor suppressor candidate 3 gene DOID:0081183 autosomal recessive intellectual developmental disorder 7 ISO RGD:1606831 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303318 Tusc3 tumor suppressor candidate 3 gene DOID:0081183 autosomal recessive intellectual developmental disorder 7 ISO RGD:1606831 D RGD:7240710 20130221 OMIM
1303318 Tusc3 tumor suppressor candidate 3 gene DOID:0081183 autosomal recessive intellectual developmental disorder 7 ISO RGD:1606831 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 7 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22 | ClinVar Annotator: match by term: TUSC3-related condition PMID:17576681|PMID:18414213|PMID:18452889|PMID:18455129|PMID:21681106|PMID:21739581|PMID:23806237|PMID:25626710|PMID:25741868|PMID:26077850|PMID:27148795|PMID:28492532|PMID:28820871|PMID:32767738|PMID:34646667|PMID:9536098
1303318 Tusc3 tumor suppressor candidate 3 gene DOID:0081197 autosomal recessive intellectual developmental disorder 24 ISO RGD:1606831 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: MRT24 PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:26077850|PMID:28492532|PMID:32767738|PMID:34646667
1303318 Tusc3 tumor suppressor candidate 3 gene DOID:1059 intellectual disability ISO RGD:1606831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:28492532|PMID:30167849
1303318 Tusc3 tumor suppressor candidate 3 gene DOID:1059 intellectual disability ISO RGD:1606831 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:26077850|PMID:28492532|PMID:30167849|PMID:32767738|PMID:34646667
1303318 Tusc3 tumor suppressor candidate 3 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1606831 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25741868|PMID:28492532|PMID:28820871
1303318 Tusc3 tumor suppressor candidate 3 gene DOID:630 genetic disease ISO RGD:1606831 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:26077850|PMID:28492532|PMID:28820871|PMID:32767738|PMID:34646667
1303318 Tusc3 tumor suppressor candidate 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606831 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1303318 Tusc3 tumor suppressor candidate 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606831 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303318 Tusc3 tumor suppressor candidate 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1606831 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21739581|PMID:25741868
1303319 Tmem248 transmembrane protein 248 gene DOID:14755 argininosuccinic aciduria ISO RGD:1602880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532
1303319 Tmem248 transmembrane protein 248 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602880 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1303320 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351629 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546
1303320 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:0070004 myeloid neoplasm ISO RGD:1551869 D RGD:1331842|PMID:12351651 20160503 RGD
1303320 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:12987 agranulocytosis ISO RGD:1351629 D RGD:11073696|PMID:14617031 20160503 RGD associated with schizophrenia;DNA:SNPs:exons, intron:multiple
1303320 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:12987 agranulocytosis ISO RGD:1351629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:14617031
1303320 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1351629 D RGD:11073691|PMID:18314446 20160503 RGD DNA:deletion:promoter: (human)
1303320 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1351629 D RGD:7240710 20230505 OMIM
1303320 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:2394 ovarian cancer ISO RGD:1351629 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868
1303320 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:2773 contact dermatitis ISO RGD:1351629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174
1303320 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1351629 D RGD:11073689|PMID:21351093 20160503 RGD DNA:SNP: :rs1143684 (human)
1303320 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:4961 bone marrow disease ISO RGD:1351629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12351651
1303320 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1303320 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:9002514 Neointima IMP D RGD:11073699|PMID:22508052 20160503 RGD
1303320 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:1551869 D RGD:10769360|PMID:16678022 20160210 RGD
1303320 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:9008023 Memory Disorders ISO RGD:1351629 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20861374
1303320 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1351629 D RGD:11554173 20180717 CTD CTD Direct Evidence: marker/mechanism
1303321 Ier3 immediate early response 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303321 Ier3 immediate early response 3 gene DOID:0080600 COVID-19 ISO RGD:1347080 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422
1303321 Ier3 immediate early response 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1347080 D RGD:1331843|PMID:14534530 19990101 RGD human gene in a mouse model
1303321 Ier3 immediate early response 3 gene DOID:10763 hypertension ISO RGD:1347080 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20713914
1303321 Ier3 immediate early response 3 gene DOID:11372 megacolon ISO RGD:1347080 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303321 Ier3 immediate early response 3 gene DOID:2772 irritant dermatitis ISO RGD:1347080 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27258892
1303321 Ier3 immediate early response 3 gene DOID:37 skin disease ISO RGD:1347080 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338
1303321 Ier3 immediate early response 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1347080 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16835338
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350768 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:0080773 delta beta-thalassemia ISO RGD:1350768 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350768 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:1324 lung cancer ISO RGD:1350768 D RGD:7240710 20240124 OMIM
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:1612 breast cancer ISO RGD:1350768 D RGD:7240710 20190315 OMIM
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1350768 D RGD:11522474|PMID:26196590 20220105 RGD mRNA:decreased expression:colorectum (human)
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:3247 rhabdomyosarcoma ISO RGD:1350768 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic PMID:9520460
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:3458 breast adenocarcinoma ISO RGD:1350768 D RGD:8554872 20141016 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma PMID:9520460
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:3905 lung carcinoma ISO RGD:1350768 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:9751628
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350768 D RGD:150557424|PMID:25498886 20220105 RGD mRNA:increased expression:lung (human)
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1350768 D RGD:150557425|PMID:22237119 20220105 RGD protein:increased expression:lung (human)
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:3910 lung adenocarcinoma ISO RGD:1350768 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1350768 D RGD:150557423|PMID:32726996 20220105 RGD mRNA:increased expression:lung (human)
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:1350768 D RGD:150557426|PMID:23243219 20220105 RGD DNA:hypermethylation: (human)
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:9005172 Lung Neoplasms ISO RGD:1350768 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:9007643 Embryonal Rhabdomyosarcoma 1 ISO RGD:1350768 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:9007643 Embryonal Rhabdomyosarcoma 1 ISO RGD:1350768 D RGD:7240710 20190315 OMIM
1303323 Slc22a18 solute carrier family 22, member 18 gene DOID:9008939 Breast Neoplasms ISO RGD:1350768 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism
1303324 Brd2 bromodomain containing 2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1350574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303324 Brd2 bromodomain containing 2 gene DOID:0050902 medulloblastoma ISO RGD:1350574 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:24231268
1303324 Brd2 bromodomain containing 2 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1350574 D RGD:9586345|PMID:14563639 20140929 RGD
1303324 Brd2 bromodomain containing 2 gene DOID:1909 melanoma ISO RGD:1350574 D RGD:9586346|PMID:23950209 20140929 RGD protein:mRNA:skin:
1303324 Brd2 bromodomain containing 2 gene DOID:2018 hyperinsulinism ISO RGD:1551876 D RGD:9586446|PMID:19883376 20141001 RGD
1303324 Brd2 bromodomain containing 2 gene DOID:3068 glioblastoma ISO RGD:1350574 D RGD:11554173 20170418 CTD CTD Direct Evidence: marker/mechanism PMID:27388964
1303324 Brd2 bromodomain containing 2 gene DOID:3159 photosensitivity disease susceptibility ISO RGD:1350574 D RGD:9586343|PMID:16516380 20140929 RGD DNA:SNPs,haplotype: :
1303324 Brd2 bromodomain containing 2 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1350574 D RGD:1358444|PMID:12830434 19990101 RGD DNA:SNPs:promoter (human)
1303324 Brd2 bromodomain containing 2 gene DOID:707 B-cell lymphoma ISO RGD:1350574 D RGD:9586345|PMID:14563639 20140929 RGD
1303324 Brd2 bromodomain containing 2 gene DOID:9970 obesity ISO RGD:1551876 D RGD:9586446|PMID:19883376 20141001 RGD
1303325 Nelfe negative elongation factor complex member E gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1344973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303325 Nelfe negative elongation factor complex member E gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1344973 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome PMID:25741868
1303326 Dhps deoxyhypusine synthase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1602903 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:20097664|PMID:21183743|PMID:21454563|PMID:23831250|PMID:25274781|PMID:25735478|PMID:26814174|PMID:27250579|PMID:28007337|PMID:28492532|PMID:31139143
1303326 Dhps deoxyhypusine synthase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1602903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532
1303326 Dhps deoxyhypusine synthase gene DOID:0111254 glutaric acidemia I ISO RGD:1602903 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:21454563|PMID:25274781|PMID:25735478|PMID:27250579|PMID:28492532
1303326 Dhps deoxyhypusine synthase gene DOID:3413 alpha-mannosidosis ISO RGD:1602903 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532
1303326 Dhps deoxyhypusine synthase gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1602903 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:21454563|PMID:25274781|PMID:25735478|PMID:27250579|PMID:28492532
1303326 Dhps deoxyhypusine synthase gene DOID:9000463 Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment ISO RGD:1602903 D RGD:7240710 20190807 OMIM
1303326 Dhps deoxyhypusine synthase gene DOID:9000463 Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment ISO RGD:1602903 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: DHPS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment PMID:25741868|PMID:30661771
1303327 Tmed3 transmembrane p24 trafficking protein 3 gene DOID:2717 Bloom syndrome ISO RGD:1347293 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
1303327 Tmed3 transmembrane p24 trafficking protein 3 gene DOID:9256 colorectal cancer ISO RGD:1347293 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
1303329 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1553848 D RGD:8694458|PMID:14519688 20140805 RGD
1303329 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1553848 D RGD:8695939|PMID:20095043 20140806 RGD
1303329 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1604645 D RGD:8547536|PMID:20212494 20140217 RGD
1303329 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1604645 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:23380860|PMID:24033266|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30096381|PMID:30303587|PMID:30718709
1303329 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1604645 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24498627|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:33095980|PMID:9760205
1303329 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1604645 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24498627|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:31858762|PMID:32581362|PMID:33095980|PMID:38219857|PMID:9760205
1303329 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1604645 D RGD:8694457|PMID:11139240 20140805 RGD DNA:mutations:cds:
1303329 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome treatment ISO RGD:1604645 D RGD:8695937|PMID:23380860 20140806 RGD
1303329 Ush1c USH1 protein network component harmonin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26969326|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110473 autosomal recessive nonsyndromic deafness 18A ISO RGD:1553848 D RGD:8694458|PMID:14519688 20140805 RGD
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110473 autosomal recessive nonsyndromic deafness 18A ISO RGD:1604645 D RGD:7240710 20130425 OMIM
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110473 autosomal recessive nonsyndromic deafness 18A ISO RGD:1604645 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A | ClinVar Annotator: match by term: USH1C-related condition PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:23251578|PMID:24033266|PMID:24416283|PMID:24498627|PMID:24875298|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27848944|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29490346|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:32581362|PMID:32747562|PMID:33095980|PMID:33576794|PMID:33724713|PMID:34391192|PMID:34426522|PMID:38219857|PMID:9536098|PMID:9760205
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110473 autosomal recessive nonsyndromic deafness 18A ISS RGD:1553848 D RGD:13592920 20230718 MouseDO OMIM:602092
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110826 Usher syndrome type 1 ISO RGD:1604645 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24498627|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:31858762|PMID:33095980|PMID:9760205
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110826 Usher syndrome type 1 ISO RGD:1604645 D RGD:8695918|PMID:21487335 20140806 RGD DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110826 Usher syndrome type 1 ISO RGD:1604645 D RGD:8695921|PMID:17407589 20140806 RGD DNA:mutation:cds: c.216G>A(human)
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110826 Usher syndrome type 1 onset ISO RGD:1604645 D RGD:8695919|PMID:23251578 20140806 RGD DNA:deletion:exon:c.1220delG(human)
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110827 Usher syndrome type 2 ISO RGD:1604645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:10973247|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386|PMID:32531858
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1604645 D RGD:8554872 20171003 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:11554173 20240910 CTD CTD Direct Evidence: marker/mechanism PMID:12136232
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:1600453|PMID:10973247 20140806 RGD DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human)
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:7240710 20130425 OMIM
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1C PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:19297620|PMID:20095043|PMID:20142502|PMID:20146813|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23251578|PMID:23967202|PMID:24033266|PMID:24154662|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24875298|PMID:25262649|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:25788563|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:32467589|PMID:9536098|PMID:9760205
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1C PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:19297620|PMID:20095043|PMID:20142502|PMID:20146813|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23251578|PMID:23967202|PMID:24033266|PMID:24154662|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24875298|PMID:25262649|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:25788563|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29490346|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:32036094|PMID:32467589|PMID:32531858|PMID:32581362|PMID:33095980|PMID:33781268|PMID:34148116|PMID:34391192|PMID:34426522|PMID:38219857|PMID:9536098|PMID:9760205
1303329 Ush1c USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISS RGD:1553848 D RGD:13592920 20230718 MouseDO OMIM:276904
1303329 Ush1c USH1 protein network component harmonin gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1604645 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532
1303329 Ush1c USH1 protein network component harmonin gene DOID:10003 sensorineural hearing loss ISO RGD:1553848 D RGD:8695932|PMID:20211154 20140806 RGD
1303329 Ush1c USH1 protein network component harmonin gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:1554257 D RGD:1600453|PMID:10973247 20070309 RGD DNA:splice-site mutation, frameshift mutation
1303329 Ush1c USH1 protein network component harmonin gene DOID:10584 retinitis pigmentosa ISO RGD:1604645 D RGD:8547536|PMID:20212494 20140217 RGD
1303329 Ush1c USH1 protein network component harmonin gene DOID:10584 retinitis pigmentosa ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:23251578|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28041643|PMID:28492532|PMID:29490346|PMID:30303587|PMID:30718709
1303329 Ush1c USH1 protein network component harmonin gene DOID:1059 intellectual disability ISO RGD:1604645 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1303329 Ush1c USH1 protein network component harmonin gene DOID:5723 optic atrophy ISO RGD:1604645 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:12136232|PMID:16963483|PMID:24033266|PMID:24875298|PMID:25741868|PMID:28492532|PMID:29739340|PMID:30245029|PMID:34391192|PMID:34426522
1303329 Ush1c USH1 protein network component harmonin gene DOID:630 genetic disease ISO RGD:1604645 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532|PMID:31858762
1303329 Ush1c USH1 protein network component harmonin gene DOID:8501 fundus dystrophy ISO RGD:1604645 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:16199547|PMID:16963483|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24875298|PMID:25741868|PMID:26969326|PMID:27208204|PMID:28041643|PMID:28492532|PMID:29739340|PMID:30245029|PMID:30303587|PMID:30718709|PMID:34391192|PMID:34426522|PMID:9760205
1303329 Ush1c USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:11554173 20240910 CTD CTD Direct Evidence: marker/mechanism
1303329 Ush1c USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25560255|PMID:25741868|PMID:26969326|PMID:28041643|PMID:28492532|PMID:30096381|PMID:30303587|PMID:30718709
1303329 Ush1c USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25468891|PMID:25560255|PMID:25741868|PMID:26969326|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709
1303329 Ush1c USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24498627|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:31858762|PMID:33095980|PMID:9760205
1303329 Ush1c USH1 protein network component harmonin gene DOID:9004538 Hearing Loss ISO RGD:1604645 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:23967202|PMID:24033266|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26969326|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30718709|PMID:32036094|PMID:32531858|PMID:34148116
1303329 Ush1c USH1 protein network component harmonin gene DOID:9004538 Hearing Loss ISO RGD:1604645 D RGD:8694454|PMID:12136232 20140805 RGD DNA:mutations:cds:
1303329 Ush1c USH1 protein network component harmonin gene DOID:9005581 Autosomal Recessive Nonsyndromic Deafness 18 ISO RGD:1604645 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 18 PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:23251578|PMID:24033266|PMID:24416283|PMID:24498627|PMID:24875298|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27848944|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29490346|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30718709|PMID:31858762|PMID:32581362|PMID:32747562|PMID:33095980|PMID:33576794|PMID:33724713|PMID:34391192|PMID:34426522|PMID:38219857|PMID:9536098|PMID:9760205
1303329 Ush1c USH1 protein network component harmonin gene DOID:9849 Meniere's disease ISO RGD:1604645 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:12136232|PMID:16963483|PMID:24033266|PMID:24875298|PMID:25741868|PMID:28492532|PMID:29739340|PMID:30245029|PMID:34391192|PMID:34426522
1303330 Prss57 serine protease 57 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1342482 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532
1303330 Prss57 serine protease 57 gene DOID:0080600 COVID-19 ISO RGD:1342482 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1303330 Prss57 serine protease 57 gene DOID:2843 long QT syndrome ISO RGD:1342482 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555
1303330 Prss57 serine protease 57 gene DOID:5339 cyclic hematopoiesis ISO RGD:1342482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1344743 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia PMID:16199547|PMID:20118933|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31041400|PMID:31167812|PMID:32504494|PMID:35426160
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0080457 microcephaly, seizures, and developmental delay ISO RGD:1344743 D RGD:7240710 20130221 OMIM
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0080457 microcephaly, seizures, and developmental delay ISO RGD:1344743 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay PMID:10446192|PMID:11704758|PMID:15136689|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22508754|PMID:23224214|PMID:23708187|PMID:23833122|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066567|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31041400|PMID:31061747|PMID:31167812|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32123317|PMID:32347949|PMID:32504494|PMID:32980744|PMID:33654647|PMID:34009545|PMID:34040816|PMID:34697416|PMID:35354845|PMID:35426160|PMID:37301908|PMID:9536098
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1344743 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:10446192|PMID:10446193|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15385968|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:20852255|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:23833122|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066567|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28453785|PMID:28492532|PMID:29056246|PMID:29243230|PMID:29261713|PMID:29498415|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31041400|PMID:31061747|PMID:31167812|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32123317|PMID:32347949|PMID:32504494|PMID:32980744|PMID:33654647|PMID:34009545|PMID:34040816|PMID:34697416|PMID:35354845|PMID:35426160|PMID:36627765|PMID:37301908|PMID:9536098
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1344743 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0081383 ataxia-oculomotor apraxia type 4 ISO RGD:1344743 D RGD:7240710 20170215 OMIM
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0081383 ataxia-oculomotor apraxia type 4 ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 PMID:10446192|PMID:11704758|PMID:15136689|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22508754|PMID:23224214|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066567|PMID:27125728|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32347949|PMID:33654647|PMID:9536098
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0081383 ataxia-oculomotor apraxia type 4 ISO RGD:1344743 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 PMID:10446192|PMID:11704758|PMID:15136689|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22508754|PMID:23224214|PMID:23833122|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066567|PMID:27125728|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32123317|PMID:32347949|PMID:32980744|PMID:33654647|PMID:34009545|PMID:34040816|PMID:34697416|PMID:35354845|PMID:37301908|PMID:9536098
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1344743 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1344743 D RGD:7240710 20200520 OMIM
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1344743 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 PMID:10446192|PMID:10446193|PMID:11112660|PMID:15385968|PMID:15749016|PMID:16199547|PMID:18414213|PMID:20118933|PMID:20852255|PMID:23833122|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066567|PMID:28453785|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:32123317|PMID:33654647|PMID:34009545|PMID:34697416|PMID:37301908
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:1059 intellectual disability ISO RGD:1344743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20118933|PMID:22508754|PMID:23224214|PMID:25558065|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31436889|PMID:31707899
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:10907 microcephaly ISO RGD:1344743 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20118933
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:630 genetic disease ISO RGD:1344743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10446192|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15749016|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32347949|PMID:33654647
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:630 genetic disease ISO RGD:1344743 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10446192|PMID:10446193|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15385968|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:20852255|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:23833122|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28453785|PMID:28492532|PMID:29056246|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32347949|PMID:32980744|PMID:33654647|PMID:34009545|PMID:34040816|PMID:35354845|PMID:9536098
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:630 genetic disease ISO RGD:1344743 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10446192|PMID:10446193|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15385968|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:20852255|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:23833122|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28453785|PMID:28492532|PMID:29056246|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32123317|PMID:32347949|PMID:32980744|PMID:33654647|PMID:34009545|PMID:34040816|PMID:34697416|PMID:35354845|PMID:36627765|PMID:37301908|PMID:9536098
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1344743 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:11112660|PMID:15749016|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:32123317|PMID:33654647|PMID:34697416|PMID:37301908
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9001793 Generalized Epilepsy ISO RGD:1344743 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:25741868|PMID:28492532
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9006534 Nervous System Malformations ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20118933|PMID:22508754|PMID:23224214|PMID:25558065|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31436889|PMID:31707899|PMID:32056211
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9008086 Developmental Disabilities ISO RGD:1344743 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20118933
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9008086 Developmental Disabilities ISO RGD:1344743 D RGD:8554872 20150408 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065
1303331 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1344743 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20118933
1303333 Ly6g6f lymphocyte antigen 6 family member G6F gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1342827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
1303333 Ly6g6f lymphocyte antigen 6 family member G6F gene DOID:11372 megacolon ISO RGD:1342827 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1303334 Hyal3 hyaluronidase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532
1303334 Hyal3 hyaluronidase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532
1303334 Hyal3 hyaluronidase 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344724 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532
1303334 Hyal3 hyaluronidase 3 gene DOID:9006673 AURONEURODENTAL SYNDROME ISO RGD:1344724 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Auroneurodental syndrome PMID:34805998
1303334 Hyal3 hyaluronidase 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344724 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26457647
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1606038 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:25363760|PMID:25741868|PMID:29900417|PMID:30478443|PMID:32581362|PMID:33238114|PMID:34315901
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606038 D RGD:11554173 20220208 CTD CTD Direct Evidence: marker/mechanism PMID:32431489
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1606038 D RGD:11041122|PMID:21415852 20160322 RGD DNA:mutations:cds:
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1606038 D RGD:11041124|PMID:22066015 20160322 RGD DNA:missense mutation:exon:p.R882 (human)
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0060041 autism spectrum disorder ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25290267
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0060041 autism spectrum disorder ISO RGD:1606038 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:28492532
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26285909
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0070004 myeloid neoplasm ISO RGD:1606038 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:25363760|PMID:25741868|PMID:29900417|PMID:30478443|PMID:32581362|PMID:33238114|PMID:34315901
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606038 D RGD:7240710 20170419 OMIM
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606038 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:11836534|PMID:15456878|PMID:16199547|PMID:17576681|PMID:21067377|PMID:22722925|PMID:24614070|PMID:24622842|PMID:24656771|PMID:24728327|PMID:25363760|PMID:25650308|PMID:25741868|PMID:26689913|PMID:26822784|PMID:26866722|PMID:26876596|PMID:26912663|PMID:27317772|PMID:27701732|PMID:27771989|PMID:27991732|PMID:28252636|PMID:28432085|PMID:28475857|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:30544257|PMID:30705090|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31685998|PMID:31861499|PMID:31961069|PMID:32123902|PMID:32385248|PMID:32435502|PMID:32581362|PMID:32860008|PMID:33238114|PMID:34092059|PMID:34315901|PMID:34788385|PMID:35556126|PMID:36528185|PMID:37872275|PMID:9536098
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:10534 stomach cancer susceptibility ISO RGD:1606038 D RGD:9589068|PMID:20128888 20141106 RGD DNA:polymorphism:promoter:-488A>G(rs36012910)(human)
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1059 intellectual disability ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24614070
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1059 intellectual disability ISO RGD:1606038 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:21067377|PMID:22722925|PMID:24614070|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26876596|PMID:27991732|PMID:28252636|PMID:28492532|PMID:28941052|PMID:30185810|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:10907 microcephaly ISO RGD:1606038 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30478443
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:11446 sciatic neuropathy ISO RGD:1620920 D RGD:9589072|PMID:22031875 20141106 RGD protein:increased expression:brain:
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1324 lung cancer disease_progression ISO RGD:1606038 D RGD:9588658|PMID:24548441 20141104 RGD protein:increased expression:lung:
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:14654 prostatitis IEP D RGD:9588290|PMID:20056826 20141024 RGD mRNA,protein:increased expression:prostate gland ventral lobe:
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1596 depressive disorder ISO RGD:1620920 D RGD:9589061|PMID:20729844 20141105 RGD mRNA:increased expression:nucleus accumbens:
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1682 congenital heart disease IEP D RGD:9588314|PMID:23333085 20141028 RGD associated with Vitamin A Deficiency; mRNA:decreased expression:heart:
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1909 melanoma ISO RGD:1606038 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Melanoma PMID:24614070|PMID:28475857|PMID:28492532|PMID:29900417
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:1620920 D RGD:2289681|PMID:17178860 20141107 RGD mRNA:increased expression:prostate gland:
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:288 endometriosis of uterus ISO RGD:1606038 D RGD:9588664|PMID:22572543 20141104 RGD protein:decreased expression:endometrium:
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:289 endometriosis ISO RGD:1606038 D RGD:9588669|PMID:17081533 20141104 RGD mRNA:increased expression:endometrium:
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:3068 glioblastoma ISO RGD:1606038 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Glioblastoma
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1620920 D RGD:9589066|PMID:24399935 20141106 RGD protein:decreased expression:mitochondrion:
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:3525 middle cerebral artery infarction IMP D RGD:9589049|PMID:23516428 20141105 RGD
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:3905 lung carcinoma disease_progression IDA D RGD:9588222|PMID:21163286 20141022 RGD protein:increased expression:nucleus:
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:3910 lung adenocarcinoma ISO RGD:1606038 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:22898541|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:27317772|PMID:27991732|PMID:28166811|PMID:28252636|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1606038 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27292127
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:4961 bone marrow disease ISO RGD:1620920 D RGD:11041127|PMID:25416277 20160322 RGD
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1606038 D RGD:8554872 20200326 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:5603 T-cell acute lymphoblastic leukemia disease_progression ISO RGD:1606038 D RGD:9589073|PMID:23341344 20141106 RGD DNA:mutations: :
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:5603 T-cell acute lymphoblastic leukemia susceptibility ISO RGD:1606038 D RGD:11041131|PMID:26072070 20160322 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation:exon:p.R882H(human)
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:630 genetic disease ISO RGD:1606038 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11836534|PMID:15456878|PMID:21067377|PMID:22722925|PMID:24614070|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26822784|PMID:26876596|PMID:26912663|PMID:27317772|PMID:27701732|PMID:27991732|PMID:28252636|PMID:28432085|PMID:28475857|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34092059|PMID:34315901|PMID:34788385
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:684 hepatocellular carcinoma IEP D RGD:2289670|PMID:11844796 20170113 RGD mRNA, protein:increased expression:liver
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1606038 D RGD:9588598|PMID:15885882 20141031 RGD protein:increased expression:liver:
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:8541 Sezary's disease ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26551667
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1606038 D RGD:9588667|PMID:11222358 20141104 RGD
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:8778 Crohn's disease ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21102463
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:8864 acute monocytic leukemia ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21399634
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1606038 D RGD:9588662|PMID:18683034 20141104 RGD mRNA:decreased expression:mononuclear cell
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9001487 Facies ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24614070
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:9588620|PMID:23716065 20141103 RGD protein:decreased expression:brain:
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24413737
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606038 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:21067377|PMID:24656771|PMID:25741868|PMID:26822784|PMID:27317772|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30478443|PMID:31620784|PMID:31961069
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26285909
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9005172 Lung Neoplasms ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26192916
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9005184 Heyn-Sproul-Jackson Syndrome ISO RGD:1606038 D RGD:7240710 20200226 OMIM
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9005184 Heyn-Sproul-Jackson Syndrome ISO RGD:1606038 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome PMID:11836534|PMID:15456878|PMID:25741868|PMID:26912663|PMID:28492532|PMID:29740169|PMID:30478443|PMID:33182397
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9005603 Muscle Hypotonia ISO RGD:1606038 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9006257 Growth Disorders ISO RGD:1606038 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:24614070|PMID:30478443
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9006534 Nervous System Malformations ISO RGD:1606038 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21067377|PMID:22722925|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26876596|PMID:27991732|PMID:28252636|PMID:28492532|PMID:28941052|PMID:30185810|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9007661 Dwarfism ISO RGD:1606038 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30478443
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9007702 Carcinogenesis disease_progression IDA D RGD:9588222|PMID:21163286 20141022 RGD
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24614070
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1606038 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22520950
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:27335278
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:7240710 20190315 OMIM
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic PMID:21067377|PMID:22722925|PMID:24614070|PMID:24622842|PMID:24656771|PMID:25650308|PMID:25693834|PMID:25741868|PMID:26822784|PMID:26876596|PMID:27317772|PMID:27701732|PMID:27991732|PMID:28252636|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:32581362|PMID:34480172|PMID:34632574|PMID:34788385|PMID:36641501
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:9588667|PMID:11222358 20141104 RGD mRNA:increased expression:CD34+ bone marrow cells
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:9589067|PMID:22291079 20141106 RGD DNA:mutations:cds:
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606038 D RGD:11041121|PMID:26242829 20160322 RGD DNA:hypomethylation: :
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606038 D RGD:11041123|PMID:24512939 20160322 RGD DNA:missense mutation:exon:p.R882 (human)
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1606038 D RGD:11041122|PMID:21415852 20160322 RGD associated with Myelodysplastic Syndromes; DNA:mutations:cds:
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1606038 D RGD:11041120|PMID:25609058 20160322 RGD DNA:mutation::
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9538 multiple myeloma ISO RGD:1606038 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1606038 D RGD:11041125|PMID:25242092 20160322 RGD DNA:mutations:exon, intron:p.R882(human)
1303336 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9970 obesity ISO RGD:1606038 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Obesity PMID:24614070|PMID:25741868|PMID:28492532
1303337 Arl9 ARF like GTPase 9 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1606161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532
1303337 Arl9 ARF like GTPase 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606161 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:1279971|PMID:15194144|PMID:1720553|PMID:28492532|PMID:7529964
1303338 Spink6 serine peptidase inhibitor, Kazal type 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351307 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1303338 Spink6 serine peptidase inhibitor, Kazal type 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351307 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1303338 Spink6 serine peptidase inhibitor, Kazal type 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351307 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1303339 Clec4d C-type lectin domain family 4, member D gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532
1303339 Clec4d C-type lectin domain family 4, member D gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1347298 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:16964591|PMID:28492532
1303339 Clec4d C-type lectin domain family 4, member D gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1347298 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896
1303339 Clec4d C-type lectin domain family 4, member D gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1347298 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532
1303339 Clec4d C-type lectin domain family 4, member D gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1347298 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896
1303339 Clec4d C-type lectin domain family 4, member D gene DOID:0111621 Temtamy syndrome ISO RGD:1347298 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532
1303339 Clec4d C-type lectin domain family 4, member D gene DOID:850 lung disease ISO RGD:1347298 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21602193
1303339 Clec4d C-type lectin domain family 4, member D gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347298 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098
1303341 Reg4 regenerating family member 4 gene DOID:0050722 PHGDH deficiency ISO RGD:1352664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532
1303341 Reg4 regenerating family member 4 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1352664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532
1303341 Reg4 regenerating family member 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352664 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17237819
1304550 Boc BOC cell adhesion associated, oncogene regulated gene DOID:1793 pancreatic cancer ISO RGD:1605311 D RGD:5490966|PMID:18772397 20110926 RGD
1304550 Boc BOC cell adhesion associated, oncogene regulated gene DOID:4621 holoprosencephaly ISO RGD:1605311 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28677295
1304550 Boc BOC cell adhesion associated, oncogene regulated gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605311 D RGD:11554173 20190212 CTD CTD Direct Evidence: marker/mechanism PMID:30510241
1304550 Boc BOC cell adhesion associated, oncogene regulated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605311 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:27793025
1304551 Ush1g USH1 protein network component sans gene DOID:0050439 Usher syndrome ISO RGD:1312053 D RGD:8547536|PMID:20212494 20140217 RGD
1304551 Ush1g USH1 protein network component sans gene DOID:0050439 Usher syndrome ISO RGD:1312053 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:24033266|PMID:25741868|PMID:28492532
1304551 Ush1g USH1 protein network component sans gene DOID:0050439 Usher syndrome ISO RGD:1312053 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:12588794|PMID:22219650|PMID:24033266|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386
1304551 Ush1g USH1 protein network component sans gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1312053 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:25741868|PMID:30303587
1304551 Ush1g USH1 protein network component sans gene DOID:0110826 Usher syndrome type 1 ISO RGD:1312053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11941484|PMID:12588794|PMID:21569298|PMID:25741868|PMID:28492532
1304551 Ush1g USH1 protein network component sans gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1312053 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:25741868
1304551 Ush1g USH1 protein network component sans gene DOID:0110834 Usher syndrome type 1G ISO RGD:1312053 D RGD:11554173 20240910 CTD CTD Direct Evidence: marker/mechanism
1304551 Ush1g USH1 protein network component sans gene DOID:0110834 Usher syndrome type 1G ISO RGD:1312053 D RGD:7240710 20130221 OMIM
1304551 Ush1g USH1 protein network component sans gene DOID:0110834 Usher syndrome type 1G ISO RGD:1312053 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G PMID:11941484|PMID:12588794|PMID:15660226|PMID:16283141|PMID:17576681|PMID:17896313|PMID:20142502|PMID:21044053|PMID:22135276|PMID:22219650|PMID:23591405|PMID:24033266|PMID:25255398|PMID:25741868|PMID:26467025|PMID:26878454|PMID:27068579|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28944237|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30828346|PMID:31637240|PMID:33095980|PMID:33946315|PMID:3442652|PMID:35802133|PMID:36633841|PMID:9536098
1304551 Ush1g USH1 protein network component sans gene DOID:0110834 Usher syndrome type 1G ISS RGD:1549969 D RGD:13592920 20230718 MouseDO OMIM:606943
1304551 Ush1g USH1 protein network component sans gene DOID:10584 retinitis pigmentosa ISO RGD:1312053 D RGD:8547536|PMID:20212494 20140217 RGD
1304551 Ush1g USH1 protein network component sans gene DOID:5723 optic atrophy ISO RGD:1312053 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:17896313|PMID:22135276|PMID:24033266|PMID:25741868|PMID:28224992|PMID:28492532|PMID:3442652
1304551 Ush1g USH1 protein network component sans gene DOID:630 genetic disease ISO RGD:1312053 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532
1304551 Ush1g USH1 protein network component sans gene DOID:8501 fundus dystrophy ISO RGD:1312053 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23591405|PMID:24033266|PMID:25741868|PMID:26878454|PMID:28492532
1304551 Ush1g USH1 protein network component sans gene DOID:9004538 Hearing Loss ISO RGD:1312053 D RGD:11554173 20240910 CTD CTD Direct Evidence: marker/mechanism PMID:30029624
1304551 Ush1g USH1 protein network component sans gene DOID:9004538 Hearing Loss ISO RGD:1312053 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25255398|PMID:25741868|PMID:27068579|PMID:27353947|PMID:28492532|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30828346|PMID:30872814|PMID:31637240
1304551 Ush1g USH1 protein network component sans gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1312053 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment PMID:28492532|PMID:30029624
1304551 Ush1g USH1 protein network component sans gene DOID:9008681 Deafness ISO RGD:1312053 D RGD:1599547|PMID:12588794 20070207 RGD Usher syndrome, type IG, OMIM:607696
1304551 Ush1g USH1 protein network component sans gene DOID:9008681 Deafness ISO RGD:1312053 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Deafness PMID:25741868|PMID:30303587
1304553 Ifi35 interferon-induced protein 35 gene DOID:9001488 Human Influenza ISO RGD:1312056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23326326
1304553 Ifi35 interferon-induced protein 35 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1304553 Ifi35 interferon-induced protein 35 gene DOID:9003281 Spontaneous Abortions ISO RGD:1312056 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18539642
1304555 Cog3 component of oligomeric golgi complex 3 gene DOID:9006729 Congenital Disorder of Glycosylation Type IIbb ISO RGD:1312059 D RGD:7240710 20231025 OMIM
1304555 Cog3 component of oligomeric golgi complex 3 gene DOID:9006729 Congenital Disorder of Glycosylation Type IIbb ISO RGD:1312059 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIbb PMID:25741868|PMID:37711075
1304556 Actg1 actin, gamma 1 gene DOID:0050453 lissencephaly ISO RGD:1312061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:22366783|PMID:25741868|PMID:27240540|PMID:28492532|PMID:29671837
1304556 Actg1 actin, gamma 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1312061 D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:13680526|PMID:19477959|PMID:30311386
1304556 Actg1 actin, gamma 1 gene DOID:0060229 Baraitser-Winter syndrome ISO RGD:1312061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Baraitser-Winter syndrome PMID:31231230|PMID:32028042
1304556 Actg1 actin, gamma 1 gene DOID:0080205 CAKUT ISO RGD:1312061 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:13680526|PMID:18414213|PMID:22366783|PMID:25052316|PMID:26188271|PMID:27625340|PMID:30143558|PMID:3351890
1304556 Actg1 actin, gamma 1 gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:1312061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME PMID:31231230|PMID:32028042
1304556 Actg1 actin, gamma 1 gene DOID:0081113 Baraitser-Winter syndrome 2 ISO RGD:1312061 D RGD:7240710 20140903 OMIM
1304556 Actg1 actin, gamma 1 gene DOID:0081113 Baraitser-Winter syndrome 2 ISO RGD:1312061 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 PMID:13680526|PMID:14684684|PMID:16773128|PMID:17576681|PMID:18414213|PMID:19419963|PMID:19548389|PMID:22366783|PMID:24033266|PMID:25052316|PMID:25741868|PMID:26188271|PMID:26467025|PMID:27240540|PMID:27625340|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29357087|PMID:29620237|PMID:29671837|PMID:29758562|PMID:29986705|PMID:30008475|PMID:30143558|PMID:30622556|PMID:31116477|PMID:32341388|PMID:3351890|PMID:33584783|PMID:33604570|PMID:34448047|PMID:9536098
1304556 Actg1 actin, gamma 1 gene DOID:0110550 autosomal dominant nonsyndromic deafness 20 ISO RGD:1312061 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304556 Actg1 actin, gamma 1 gene DOID:0110550 autosomal dominant nonsyndromic deafness 20 ISO RGD:1312061 D RGD:7240710 20140219 OMIM
1304556 Actg1 actin, gamma 1 gene DOID:0110550 autosomal dominant nonsyndromic deafness 20 ISO RGD:1312061 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 20 PMID:12519370|PMID:13680526|PMID:14684684|PMID:16773128|PMID:17576681|PMID:18414213|PMID:19419963|PMID:19477959|PMID:19548389|PMID:20301607|PMID:22200607|PMID:22366783|PMID:23506231|PMID:24033266|PMID:25052316|PMID:25741868|PMID:25792668|PMID:26188271|PMID:26467025|PMID:27240540|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29357087|PMID:29620237|PMID:29671837|PMID:29907799|PMID:29986705|PMID:30008475|PMID:30311386|PMID:30622556|PMID:31116477|PMID:31231230|PMID:32028042|PMID:32341388|PMID:33584783|PMID:33604570|PMID:34448047|PMID:35802133|PMID:36633841|PMID:5654493|PMID:9536098
1304556 Actg1 actin, gamma 1 gene DOID:1059 intellectual disability ISO RGD:1312061 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532
1304556 Actg1 actin, gamma 1 gene DOID:10907 microcephaly ISO RGD:1312061 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868
1304556 Actg1 actin, gamma 1 gene DOID:11476 osteoporosis ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18924182
1304556 Actg1 actin, gamma 1 gene DOID:12270 coloboma ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22366783
1304556 Actg1 actin, gamma 1 gene DOID:305 carcinoma ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942
1304556 Actg1 actin, gamma 1 gene DOID:630 genetic disease ISO RGD:1312061 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:13680526|PMID:16773128|PMID:18414213|PMID:22366783|PMID:24033266|PMID:25052316|PMID:25741868|PMID:26188271|PMID:27240540|PMID:27625340|PMID:28492532|PMID:30143558|PMID:3351890
1304556 Actg1 actin, gamma 1 gene DOID:9000307 Presbycusis ISO RGD:3077730 D RGD:1331525|PMID:15118671 19990101 GAD
1304556 Actg1 actin, gamma 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942
1304556 Actg1 actin, gamma 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21751358
1304556 Actg1 actin, gamma 1 gene DOID:9004538 Hearing Loss ISO RGD:1312061 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:19477959|PMID:20301607|PMID:24033266|PMID:25741868|PMID:25792668|PMID:30311386
1304556 Actg1 actin, gamma 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16316942
1304556 Actg1 actin, gamma 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22366783
1304556 Actg1 actin, gamma 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25401301
1304556 Actg1 actin, gamma 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1312061 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22366783
1304559 Wnt6 Wnt family member 6 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1312067 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532
1304559 Wnt6 Wnt family member 6 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1312067 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex
1304559 Wnt6 Wnt family member 6 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532
1304559 Wnt6 Wnt family member 6 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532
1304559 Wnt6 Wnt family member 6 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:10775536|PMID:26937392|PMID:28492532|PMID:9392430
1304559 Wnt6 Wnt family member 6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1312068 D RGD:2298845|PMID:18649356 20080728 RGD
1304559 Wnt6 Wnt family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312067 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304559 Wnt6 Wnt family member 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1312068 D RGD:2298848|PMID:9419423 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line
1304559 Wnt6 Wnt family member 6 gene DOID:9005233 Experimental Mammary Neoplasms no_association ISO RGD:1312068 D RGD:2298863|PMID:8065359 20080729 RGD in vitro transformation of transfected C57MG mammary epithelial cell line
1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:0070177 spermatogenic failure 22 ISO RGD:1348488 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 22 PMID:35991565
1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1348488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062
1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348488 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532|PMID:30866059
1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532
1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:14227 azoospermia ISO RGD:1348488 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia
1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1348488 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532
1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348488 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532
1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348488 D RGD:11554173 20240910 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1304560 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:9007561 Premature Ovarian Failure 23 ISO RGD:1348488 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 23 PMID:31000419|PMID:35991565
1304561 Chchd6 coiled-coil-helix-coiled-coil-helix domain containing 6 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1312070 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799
1304561 Chchd6 coiled-coil-helix-coiled-coil-helix domain containing 6 gene DOID:9270 alkaptonuria ISO RGD:1312070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532
1304562 Tbc1d1 TBC1 domain family member 1 gene DOID:0080205 CAKUT ISO RGD:1349688 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-syndromic renal or urinary tract malformation PMID:25741868
1304562 Tbc1d1 TBC1 domain family member 1 gene DOID:630 genetic disease ISO RGD:1349688 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868
1304562 Tbc1d1 TBC1 domain family member 1 gene DOID:9970 obesity ISO RGD:1349688 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16893906|PMID:18325908|PMID:18931681
1304563 Syne3 spectrin repeat containing, nuclear envelope family member 3 gene DOID:12858 Huntington's disease ISO RGD:1312072 D RGD:9068941 20200609 RGD up-regulated PMID:22202438|REF_RGD_ID:11073597
1304565 Senp6 SUMO specific peptidase 6 gene DOID:0060948 Ullrich congenital muscular dystrophy 2 ISO RGD:1312076 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 PMID:28492532
1304565 Senp6 SUMO specific peptidase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312076 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29662167
1304566 Igsf9 immunoglobulin superfamily, member 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1312078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532
1304566 Igsf9 immunoglobulin superfamily, member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1312078 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1304566 Igsf9 immunoglobulin superfamily, member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312078 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1304567 C5h1orf174 similar to human chromosome 1 open reading frame 174 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603248 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome
1304567 C5h1orf174 similar to human chromosome 1 open reading frame 174 gene DOID:11372 megacolon ISO RGD:1603248 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1304567 C5h1orf174 similar to human chromosome 1 open reading frame 174 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603248 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304568 P3h2 prolyl 3-hydroxylase 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1312081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290
1304568 P3h2 prolyl 3-hydroxylase 2 gene DOID:11830 myopia ISO RGD:1312081 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868
1304568 P3h2 prolyl 3-hydroxylase 2 gene DOID:5295 intestinal disease ISO RGD:12184798 D RGD:9068941 20230824 OMIA Lundehund syndrome PMID:25860808|PMID:27485430|PMID:37405168|PMID:37582787|PMID:7946268|PMID:853728
1304568 P3h2 prolyl 3-hydroxylase 2 gene DOID:5419 schizophrenia ISO RGD:1312081 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1304568 P3h2 prolyl 3-hydroxylase 2 gene DOID:630 genetic disease ISO RGD:1312081 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
1304568 P3h2 prolyl 3-hydroxylase 2 gene DOID:9001833 Myopia 23, Autosomal Recessive ISO RGD:1312081 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Rare isolated myopia PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532
1304568 P3h2 prolyl 3-hydroxylase 2 gene DOID:9005145 High Myopia with Cataract and Vitreoretinal Degeneration ISO RGD:1312081 D RGD:7240710 20140911 OMIM
1304568 P3h2 prolyl 3-hydroxylase 2 gene DOID:9005145 High Myopia with Cataract and Vitreoretinal Degeneration ISO RGD:1312081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration | ClinVar Annotator: match by term: P3H2-related condition PMID:21885030|PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290
1304569 Fem1b fem-1 homolog B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532
1304569 Fem1b fem-1 homolog B gene DOID:2717 Bloom syndrome ISO RGD:1312083 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
1304569 Fem1b fem-1 homolog B gene DOID:9256 colorectal cancer ISO RGD:1312083 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
1304569 Fem1b fem-1 homolog B gene DOID:9352 type 2 diabetes mellitus ISS RGD:1312084 D RGD:13592920 20180518 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
1304570 Fn3krp fructosamine-3-kinase-related protein gene DOID:9001793 Generalized Epilepsy ISO RGD:1606224 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532
1304571 Ebpl EBP like gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312086 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
1304571 Ebpl EBP like gene DOID:1059 intellectual disability ISO RGD:1312086 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304573 Mast2 microtubule associated serine/threonine kinase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532
1304573 Mast2 microtubule associated serine/threonine kinase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312089 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532
1304573 Mast2 microtubule associated serine/threonine kinase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532
1304573 Mast2 microtubule associated serine/threonine kinase 2 gene DOID:13938 amenorrhea ISO RGD:1312089 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106
1304574 Selenon selenoprotein N gene DOID:0080102 congenital myopathy 4A ISO RGD:1603617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28558865|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32746448|PMID:32796131|PMID:33652732|PMID:7224095
1304574 Selenon selenoprotein N gene DOID:0080102 congenital myopathy 4A ISO RGD:1603617 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:12192640|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17204937|PMID:17951086|PMID:19067361|PMID:19557870|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28558865|PMID:28688748|PMID:30612914|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32746448|PMID:32796131|PMID:33652732|PMID:34867752|PMID:35606766|PMID:7224095
1304574 Selenon selenoprotein N gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1603617 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532
1304574 Selenon selenoprotein N gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1603617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532
1304574 Selenon selenoprotein N gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1603617 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304574 Selenon selenoprotein N gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1603617 D RGD:1599352|PMID:11528383 20070130 RGD DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human)
1304574 Selenon selenoprotein N gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1603617 D RGD:7240710 20130221 OMIM
1304574 Selenon selenoprotein N gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1603617 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 3 WITH RIGID SPINE | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar Annotator: match by term: MYOPATHY, SEPN1-RELATED | ClinVar Annotator: match by term: SELENON-related condition | ClinVar Annotator: match by term: SEPN1-related disorder PMID:11079538|PMID:11528383|PMID:1219264|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16199547|PMID:16365872|PMID:16498447|PMID:16779558|PMID:17204937|PMID:17365175|PMID:17576681|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:19285539|PMID:19557870|PMID:19763152|PMID:20301436|PMID:20307669|PMID:20623375|PMID:20937510|PMID:21131290|PMID:21520333|PMID:21670436|PMID:22406018|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25525159|PMID:25635128|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066551|PMID:27447704|PMID:27863379|PMID:28357410|PMID:28492532|PMID:28558865|PMID:28688748|PMID:29172004|PMID:29382405|PMID:29669168|PMID:30612914|PMID:30642275|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:31561939|PMID:31847883|PMID:32140910|PMID:32154989|PMID:32528171|PMID:32746448|PMID:32796131|PMID:32860008|PMID:32864802|PMID:33037864|PMID:33184643|PMID:33333461|PMID:33652732|PMID:33762497|PMID:34867752|PMID:35368679|PMID:35606766|PMID:7224095|PMID:9536098|PMID:9585610
1304574 Selenon selenoprotein N gene DOID:0110633 rigid spine muscular dystrophy 1 ISS RGD:1312091 D RGD:13592920 20230718 MouseDO OMIM:602771
1304574 Selenon selenoprotein N gene DOID:0110926 nemaline myopathy 1 ISO RGD:1603617 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cap myopathy 1 PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17951086|PMID:19067361|PMID:20301436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:34867752
1304574 Selenon selenoprotein N gene DOID:422 congenital structural myopathy ISO RGD:1603617 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:12192640|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17204937|PMID:17951086|PMID:19067361|PMID:19557870|PMID:20301436|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:30612914|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:34867752
1304574 Selenon selenoprotein N gene DOID:630 genetic disease ISO RGD:1603617 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1304574 Selenon selenoprotein N gene DOID:9005077 Joint Instability ISO RGD:1603617 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Joint laxity PMID:25741868|PMID:28492532
1304574 Selenon selenoprotein N gene DOID:9884 muscular dystrophy ISO RGD:1603617 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17123513
1304574 Selenon selenoprotein N gene DOID:9884 muscular dystrophy ISO RGD:1603617 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:16199547|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18713863|PMID:19067361|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30921636|PMID:33652732
1304575 Map3k3 mitogen activated protein kinase kinase kinase 3 gene DOID:470 verrucous keratotic hemangioma ISO RGD:1312092 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Verrucous venous malformation PMID:25741868|PMID:33729480|PMID:33891857
1304575 Map3k3 mitogen activated protein kinase kinase kinase 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1312092 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17068819
1304575 Map3k3 mitogen activated protein kinase kinase kinase 3 gene DOID:9009272 Cerebral Cavernous Malformation 5 ISO RGD:1312092 D RGD:7240710 20250108 OMIM
1304575 Map3k3 mitogen activated protein kinase kinase kinase 3 gene DOID:9009272 Cerebral Cavernous Malformation 5 ISO RGD:1312092 D RGD:8554872 20250121 ClinVar ClinVar Annotator: match by term: CEREBRAL CAVERNOUS MALFORMATIONS 5, SOMATIC PMID:25741868|PMID:33729480|PMID:33891857
1304576 Vps37b VPS37B subunit of ESCRT-I gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:1605953 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:28492532
1304577 Zfp13 zinc finger protein 13 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532
1304577 Zfp13 zinc finger protein 13 gene DOID:11612 polycystic ovary syndrome ISO RGD:1312095 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543
1304577 Zfp13 zinc finger protein 13 gene DOID:1826 epilepsy ISO RGD:1312095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532
1304577 Zfp13 zinc finger protein 13 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312095 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532
1304579 Trim5 tripartite motif-containing 5 gene DOID:10283 prostate cancer ISO RGD:1343210 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
1304579 Trim5 tripartite motif-containing 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343210 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:15249687
1304580 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0050563 nonsyndromic deafness ISO RGD:1602427 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:23348741|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28958982
1304580 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0050563 nonsyndromic deafness ISO RGD:1602427 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:23348741|PMID:24033266|PMID:28492532|PMID:28958982
1304580 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1602427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532
1304580 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110524 autosomal recessive nonsyndromic deafness 76 ISO RGD:1602427 D RGD:7240710 20170405 OMIM
1304580 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110524 autosomal recessive nonsyndromic deafness 76 ISO RGD:1602427 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 76 | ClinVar Annotator: match by term: SYNE4-related condition PMID:23348741|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28958982|PMID:35802133|PMID:36633841
1304580 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532
1304581 Hebp1 heme binding protein 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1312101 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:23918416|PMID:27656287|PMID:28377535|PMID:28492532|PMID:28503605
1304581 Hebp1 heme binding protein 1 gene DOID:0080600 COVID-19 ISO RGD:1312101 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1304582 Mtm1 myotubularin 1 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1312103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655
1304582 Mtm1 myotubularin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845
1304582 Mtm1 myotubularin 1 gene DOID:0080102 congenital myopathy 4A ISO RGD:1312103 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10790201|PMID:11793470|PMID:12646134|PMID:17973976|PMID:18414213|PMID:21135508|PMID:22520358|PMID:23071445|PMID:23917616|PMID:25741868|PMID:26338224|PMID:28492532|PMID:28685322|PMID:32805447|PMID:9285787|PMID:9305655
1304582 Mtm1 myotubularin 1 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1312103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:25741868|PMID:28492532
1304582 Mtm1 myotubularin 1 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1312103 D RGD:7240710 20241120 OMIM
1304582 Mtm1 myotubularin 1 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1312103 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10215413|PMID:10449925|PMID:10502779|PMID:10714588|PMID:10726846|PMID:10790201|PMID:10900271|PMID:11456308|PMID:11552027|PMID:11793470|PMID:12031625|PMID:12118066|PMID:12467733|PMID:12522554|PMID:12646134|PMID:12707446|PMID:12859411|PMID:15725586|PMID:15811014|PMID:15883335|PMID:16199547|PMID:17005396|PMID:17537630|PMID:17576681|PMID:17973976|PMID:18358876|PMID:18414213|PMID:18817572|PMID:19084976|PMID:19763152|PMID:20301605|PMID:20307669|PMID:20358311|PMID:20434914|PMID:20500434|PMID:21135508|PMID:22068590|PMID:22101172|PMID:22406018|PMID:22435031|PMID:22520358|PMID:22968135|PMID:22968136|PMID:23071445|PMID:23346162|PMID:2352255|PMID:23818870|PMID:23917616|PMID:24033266|PMID:24381816|PMID:25640679|PMID:25741868|PMID:25957634|PMID:26338224|PMID:26467025|PMID:26898940|PMID:26938784|PMID:27017278|PMID:27352967|PMID:27363342|PMID:28007904|PMID:28492532|PMID:28685322|PMID:29567349|PMID:30047259|PMID:30149909|PMID:30232666|PMID:30241883|PMID:30884204|PMID:30902907|PMID:31541013|PMID:32805447|PMID:33164942|PMID:34011573|PMID:34463354|PMID:34782754|PMID:7611280|PMID:8640223|PMID:9199578|PMID:9285787|PMID:9305655|PMID:9450905|PMID:9536098|PMID:9829274|PMID:9851444|PMID:9858861
1304582 Mtm1 myotubularin 1 gene DOID:0111823 autosomal hemophilia A ISO RGD:1312103 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
1304582 Mtm1 myotubularin 1 gene DOID:12134 factor VIII deficiency ISO RGD:1312103 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
1304582 Mtm1 myotubularin 1 gene DOID:12849 autistic disorder ISO RGD:1312103 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1304582 Mtm1 myotubularin 1 gene DOID:14717 centronuclear myopathy ISO RGD:1312103 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:10063835|PMID:10502779|PMID:10790201|PMID:10900271|PMID:11552027|PMID:11793470|PMID:12467733|PMID:12646134|PMID:15725586|PMID:15811014|PMID:17973976|PMID:18414213|PMID:20358311|PMID:20434914|PMID:21135508|PMID:22068590|PMID:22520358|PMID:23071445|PMID:23917616|PMID:24381816|PMID:25741868|PMID:26338224|PMID:28492532|PMID:28685322|PMID:30241883|PMID:32805447|PMID:8640223|PMID:9285787|PMID:9305655|PMID:9450905|PMID:9829274
1304582 Mtm1 myotubularin 1 gene DOID:14717 centronuclear myopathy ISS RGD:1312104 D RGD:13592920 20180726 MouseDO OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959
1304582 Mtm1 myotubularin 1 gene DOID:422 congenital structural myopathy ISO RGD:1312103 D RGD:11554173 20180724 CTD CTD Direct Evidence: marker/mechanism PMID:17376685
1304582 Mtm1 myotubularin 1 gene DOID:422 congenital structural myopathy ISO RGD:1312103 D RGD:1600519|PMID:8640223 20070312 RGD myotubular myopathy, OMIM:310400, DNA:point mutation:exon:p.N207S (human)
1304582 Mtm1 myotubularin 1 gene DOID:422 congenital structural myopathy ISO RGD:1312103 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1 PMID:10063835|PMID:10502779|PMID:10790201|PMID:11793470|PMID:12118066|PMID:15725586|PMID:17005396|PMID:18414213|PMID:19084976|PMID:20358311|PMID:25741868|PMID:25957634|PMID:28492532|PMID:30149909|PMID:30241883|PMID:33164942|PMID:34011573|PMID:34463354|PMID:9285787|PMID:9305655|PMID:9450905|PMID:9829274
1304582 Mtm1 myotubularin 1 gene DOID:423 myopathy ISO RGD:1312103 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Myopathy PMID:32581362
1304582 Mtm1 myotubularin 1 gene DOID:607 paraplegia ISO RGD:1312103 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10790201|PMID:11793470|PMID:12646134|PMID:17973976|PMID:18414213|PMID:21135508|PMID:22520358|PMID:23071445|PMID:23917616|PMID:25741868|PMID:26338224|PMID:28492532|PMID:28685322|PMID:32805447|PMID:9285787|PMID:9305655
1304582 Mtm1 myotubularin 1 gene DOID:630 genetic disease ISO RGD:1312103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502779|PMID:10714588|PMID:10900271|PMID:11793470|PMID:12031625|PMID:12118066|PMID:17537630|PMID:18414213|PMID:2352255|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28685322|PMID:8640223
1304582 Mtm1 myotubularin 1 gene DOID:8488 polyhydramnios ISO RGD:1312103 D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868
1304582 Mtm1 myotubularin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312103 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:10063835|PMID:11793470|PMID:12467733|PMID:15725586|PMID:18414213|PMID:24381816|PMID:25741868|PMID:28492532|PMID:9285787|PMID:9305655|PMID:9829274
1304582 Mtm1 myotubularin 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1312103 D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868
1304583 Ago4 argonaute RISC component 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312105 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532
1304584 Fbxo28 F-box protein 28 gene DOID:0070386 developmental and epileptic encephalopathy 100 ISO RGD:1312107 D RGD:7240710 20220316 OMIM
1304584 Fbxo28 F-box protein 28 gene DOID:0070386 developmental and epileptic encephalopathy 100 ISO RGD:1312107 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 100 PMID:25356899|PMID:25741868|PMID:33280099
1304584 Fbxo28 F-box protein 28 gene DOID:1540 parathyroid carcinoma ISO RGD:1312107 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1304584 Fbxo28 F-box protein 28 gene DOID:630 genetic disease ISO RGD:1312107 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356899|PMID:33280099
1304584 Fbxo28 F-box protein 28 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312107 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1304585 Lysmd2 LysM domain containing 2 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1605838 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13
1304585 Lysmd2 LysM domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1605838 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672
1304585 Lysmd2 LysM domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1605838 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
1304585 Lysmd2 LysM domain containing 2 gene DOID:607 paraplegia ISO RGD:1605838 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942
1304585 Lysmd2 LysM domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1605838 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:15756637|PMID:17508018|PMID:19262603|PMID:20849526|PMID:25741868|PMID:28492532
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1312110 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:12915478|PMID:15756637|PMID:16007253|PMID:17508018|PMID:17576681|PMID:17684380|PMID:19262603|PMID:20672373|PMID:20849526|PMID:21729033|PMID:22992804|PMID:25741868|PMID:25766764|PMID:26740202|PMID:27025581|PMID:27769845|PMID:28492532|PMID:28851938|PMID:30600594|PMID:30916489|PMID:31168818|PMID:31586585|PMID:32293521|PMID:32707200|PMID:34908195|PMID:36262015|PMID:36980989|PMID:9536098
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1312110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:16675967
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1312110 D RGD:1598548|PMID:12915478 20061203 RGD
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060712 autosomal recessive congenital ichthyosis 4A ISO RGD:1312110 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060712 autosomal recessive congenital ichthyosis 4A ISO RGD:1312110 D RGD:7240710 20130221 OMIM
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060712 autosomal recessive congenital ichthyosis 4A ISO RGD:1312110 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: ABCA12-related condition | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A PMID:10094194|PMID:12915478|PMID:15756637|PMID:16007253|PMID:16199547|PMID:16902423|PMID:19262603|PMID:19664001|PMID:20672373|PMID:21729033|PMID:22257947|PMID:22992804|PMID:23528209|PMID:25741868|PMID:27025581|PMID:27848944|PMID:28295493|PMID:28492532|PMID:28851938|PMID:29722424|PMID:29880184|PMID:29887490|PMID:30578701|PMID:30600594|PMID:30916489|PMID:31168818|PMID:32293521|PMID:32707200|PMID:32851342|PMID:32901917|PMID:34908195|PMID:36980989|PMID:8845852
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:1312110 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:1312110 D RGD:7240710 20130221 OMIM
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:1312110 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B | ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 4B (harlequin) PMID:10094194|PMID:12915478|PMID:15756637|PMID:16902423|PMID:17684380|PMID:19262603|PMID:19664001|PMID:20672373|PMID:21729033|PMID:22992804|PMID:25741868|PMID:26740202|PMID:28492532|PMID:28851938|PMID:29543227|PMID:29880184|PMID:30578701|PMID:30916489|PMID:31168818|PMID:31586585|PMID:32293521|PMID:32707200|PMID:34906502|PMID:35216886|PMID:36980989
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISS RGD:1620735 D RGD:13592920 20230718 MouseDO OMIM:242500
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:1697 ichthyosis ISO RGD:1312110 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:25741868
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:630 genetic disease ISO RGD:1312110 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9002801 Recurrence ISO RGD:1312110 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35837087
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312110 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1312110 D RGD:11554173 20230308 CTD CTD Direct Evidence: marker/mechanism PMID:35837087
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312110 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22294766
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1312110 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532
1304586 Abca12 ATP binding cassette subfamily A member 12 gene DOID:936 brain disease ISO RGD:1312110 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868
1304587 C10h1orf35 similar to human chromosome 1 open reading frame 35 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1312112 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:18094336|PMID:23462291|PMID:25971455|PMID:27785568|PMID:28492532|PMID:28671726
1304587 C10h1orf35 similar to human chromosome 1 open reading frame 35 gene DOID:1540 parathyroid carcinoma ISO RGD:1312112 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1304587 C10h1orf35 similar to human chromosome 1 open reading frame 35 gene DOID:607 paraplegia ISO RGD:1312112 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:18094336|PMID:23462291|PMID:25971455|PMID:27785568|PMID:28492532|PMID:28671726
1304587 C10h1orf35 similar to human chromosome 1 open reading frame 35 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312112 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1304588 Lpin2 lipin 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1312114 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835
1304588 Lpin2 lipin 2 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532
1304588 Lpin2 lipin 2 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1312114 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 PMID:23143600|PMID:25820463|PMID:28492532
1304588 Lpin2 lipin 2 gene DOID:1059 intellectual disability ISO RGD:1312114 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304588 Lpin2 lipin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312114 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23143600|PMID:25820463|PMID:28492532
1304588 Lpin2 lipin 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1312114 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10969284|PMID:15994876|PMID:17576681|PMID:18409191|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:24033266|PMID:25741868|PMID:26386126|PMID:27860302|PMID:2809904|PMID:28492532|PMID:33670882|PMID:9536098
1304588 Lpin2 lipin 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1312114 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10969284|PMID:15994876|PMID:17576681|PMID:18409191|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:24033266|PMID:25741868|PMID:26386126|PMID:26639818|PMID:27860302|PMID:2809904|PMID:28492532|PMID:33670882|PMID:9536098
1304588 Lpin2 lipin 2 gene DOID:630 genetic disease ISO RGD:1312114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1304588 Lpin2 lipin 2 gene DOID:8893 psoriasis ISO RGD:1312114 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Psoriasis PMID:25741868|PMID:28492532
1304588 Lpin2 lipin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312114 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304588 Lpin2 lipin 2 gene DOID:9005523 Majeed Syndrome ISO RGD:1312114 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304588 Lpin2 lipin 2 gene DOID:9005523 Majeed Syndrome ISO RGD:1312114 D RGD:7240710 20130221 OMIM
1304588 Lpin2 lipin 2 gene DOID:9005523 Majeed Syndrome ISO RGD:1312114 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:10969284|PMID:11795677|PMID:15994876|PMID:16199547|PMID:17330256|PMID:17576681|PMID:18409191|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:23087183|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26386126|PMID:27860302|PMID:2809904|PMID:28492532|PMID:28600779|PMID:29387759|PMID:31598604|PMID:31727123|PMID:33314777|PMID:33670882|PMID:9536098
1304589 Snapc2 small nuclear RNA activating complex, polypeptide 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1312116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532
1304589 Snapc2 small nuclear RNA activating complex, polypeptide 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1312116 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532
1304590 Rap1gap2 RAP1 GTPase activating protein 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1346377 D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868
1304591 Art1 ADP-ribosyltransferase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312119 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532
1304591 Art1 ADP-ribosyltransferase 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1312119 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417
1304591 Art1 ADP-ribosyltransferase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312119 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532
1304593 Ints3 integrator complex subunit 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532
1304593 Ints3 integrator complex subunit 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532
1304593 Ints3 integrator complex subunit 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603299 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532
1304593 Ints3 integrator complex subunit 3 gene DOID:10283 prostate cancer ISO RGD:1603299 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
1304593 Ints3 integrator complex subunit 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1603299 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1304593 Ints3 integrator complex subunit 3 gene DOID:2661 myoepithelioma ISO RGD:1603299 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor
1304593 Ints3 integrator complex subunit 3 gene DOID:5812 MHC class II deficiency ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532
1304593 Ints3 integrator complex subunit 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603299 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1304594 Cog1 component of oligomeric golgi complex 1 gene DOID:0070259 congenital disorder of glycosylation type IIg ISO RGD:1312123 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304594 Cog1 component of oligomeric golgi complex 1 gene DOID:0070259 congenital disorder of glycosylation type IIg ISO RGD:1312123 D RGD:7240710 20130221 OMIM
1304594 Cog1 component of oligomeric golgi complex 1 gene DOID:0070259 congenital disorder of glycosylation type IIg ISO RGD:1312123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G PMID:16199547|PMID:16537452|PMID:17576681|PMID:19008299|PMID:23757202|PMID:23806237|PMID:25741868|PMID:27112773|PMID:28492532|PMID:29127259|PMID:33960418|PMID:9536098
1304594 Cog1 component of oligomeric golgi complex 1 gene DOID:10283 prostate cancer ISO RGD:1312123 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
1304594 Cog1 component of oligomeric golgi complex 1 gene DOID:1184 nephrotic syndrome ISO RGD:1312123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:19008299|PMID:25741868|PMID:29127259
1304594 Cog1 component of oligomeric golgi complex 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1312123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532
1304594 Cog1 component of oligomeric golgi complex 1 gene DOID:630 genetic disease ISO RGD:1312123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1304594 Cog1 component of oligomeric golgi complex 1 gene DOID:9006549 Enterovirus Infections ISO RGD:1312123 D RGD:11554173 20171010 CTD CTD Direct Evidence: marker/mechanism PMID:28446605
1304597 Ndufa7 NADH:ubiquinone oxidoreductase subunit A7 gene DOID:0080490 mucolipidosis type IV ISO RGD:1312128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532
1304597 Ndufa7 NADH:ubiquinone oxidoreductase subunit A7 gene DOID:12849 autistic disorder ISO RGD:1312128 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1304598 Abhd15 abhydrolase domain containing 15 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532
1304599 Polrmt RNA polymerase mitochondrial gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1312131 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532
1304599 Polrmt RNA polymerase mitochondrial gene DOID:0070428 combined oxidative phosphorylation deficiency 55 ISO RGD:1312131 D RGD:7240710 20220223 OMIM
1304599 Polrmt RNA polymerase mitochondrial gene DOID:0070428 combined oxidative phosphorylation deficiency 55 ISO RGD:1312131 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 55 | ClinVar Annotator: match by term: POLRMT-related condition PMID:25741868|PMID:28492532|PMID:33602924
1304599 Polrmt RNA polymerase mitochondrial gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1312131 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:25741868
1304599 Polrmt RNA polymerase mitochondrial gene DOID:2843 long QT syndrome ISO RGD:1312131 D RGD:8554872 20150908 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555
1304599 Polrmt RNA polymerase mitochondrial gene DOID:5339 cyclic hematopoiesis ISO RGD:1312131 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532
1304599 Polrmt RNA polymerase mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312131 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33602924
1304601 Amdhd2 amidohydrolase domain containing 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1603049 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532
1304601 Amdhd2 amidohydrolase domain containing 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532
1304601 Amdhd2 amidohydrolase domain containing 2 gene DOID:1826 epilepsy ISO RGD:1603049 D RGD:8554872 20240618 ClinVar ClinVar Annotator: match by term: Childhood-onset epilepsy syndrome | ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:28492532
1304601 Amdhd2 amidohydrolase domain containing 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532
1304602 Crtam cytotoxic and regulatory T cell molecule gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1606263 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868
1304602 Crtam cytotoxic and regulatory T cell molecule gene DOID:5419 schizophrenia ISO RGD:1606263 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1304602 Crtam cytotoxic and regulatory T cell molecule gene DOID:9007661 Dwarfism ISO RGD:1606263 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362
1304603 Nrf1 nuclear respiratory factor 1 gene DOID:12858 Huntington's disease ISO RGD:1312138 D RGD:6771173|PMID:20529956 20171003 RGD mRNA:decreased expression:striatum
1304603 Nrf1 nuclear respiratory factor 1 gene DOID:12858 Huntington's disease onset ISO RGD:1312137 D RGD:6770890|PMID:21595933 20171003 RGD DNA:SNPs: :rs6949152, rs7781972 (human)
1304603 Nrf1 nuclear respiratory factor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1312137 D RGD:11554173 20210510 CTD CTD Direct Evidence: marker/mechanism PMID:22975021
1304603 Nrf1 nuclear respiratory factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312137 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1304603 Nrf1 nuclear respiratory factor 1 gene DOID:9002669 Hypoxia treatment IEP D RGD:329955450|PMID:33310031 20230717 RGD mRNA:decreased expression:left ventricle myocardium (rat)
1304603 Nrf1 nuclear respiratory factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia IEP D RGD:2302400|PMID:18723421 20081216 RGD mRNA, protein:increase expression:cerebral cortex
1304603 Nrf1 nuclear respiratory factor 1 gene DOID:9006102 Right Ventricular Hypertrophy IEP D RGD:2302404|PMID:17704287 20081217 RGD mRNA:increased expression:hear right ventricle
1304603 Nrf1 nuclear respiratory factor 1 gene DOID:9007170 Bowen's Disease ISO RGD:1312137 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21514422
1304603 Nrf1 nuclear respiratory factor 1 gene DOID:9970 obesity treatment IEP D RGD:329955450|PMID:33310031 20230717 RGD mRNA:decreased expression:left ventricle myocardium (rat)
1304604 Senp5 SUMO specific peptidase 5 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1312139 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome
1304604 Senp5 SUMO specific peptidase 5 gene DOID:12849 autistic disorder ISO RGD:1312139 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1304604 Senp5 SUMO specific peptidase 5 gene DOID:5419 schizophrenia ISO RGD:1312139 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1304605 Slc22a22 solute carrier family 22 member 22 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602951 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532
1304605 Slc22a22 solute carrier family 22 member 22 gene DOID:1059 intellectual disability ISO RGD:1602951 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304605 Slc22a22 solute carrier family 22 member 22 gene DOID:3068 glioblastoma ISO RGD:1602951 D RGD:11554173 20240910 CTD CTD Direct Evidence: marker/mechanism PMID:30705370
1304605 Slc22a22 solute carrier family 22 member 22 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1602951 D RGD:11554173 20240910 CTD CTD Direct Evidence: marker/mechanism PMID:30705370
1304605 Slc22a22 solute carrier family 22 member 22 gene DOID:684 hepatocellular carcinoma ISO RGD:1602951 D RGD:11554173 20240910 CTD CTD Direct Evidence: marker/mechanism PMID:28284560|PMID:30705370
1304605 Slc22a22 solute carrier family 22 member 22 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1602951 D RGD:11554173 20240910 CTD CTD Direct Evidence: marker/mechanism PMID:30705370
1304605 Slc22a22 solute carrier family 22 member 22 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602951 D RGD:11554173 20240910 CTD CTD Direct Evidence: marker/mechanism PMID:30705370
1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:1612 breast cancer disease_progression ISO RGD:1312142 D RGD:2325661|PMID:16598187 20100604 RGD
1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1312142 D RGD:2325658|PMID:19714807 20200713 RGD protein:increased expression:pancreas
1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1312142 D RGD:2325659|PMID:19609859 20100604 RGD mRNA:increased expression:pancreas
1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312142 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312142 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:25237833
1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1312142 D RGD:2325658|PMID:19714807 20100604 RGD protein:increased expression:pancreas
1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9005186 RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA ISO RGD:1312142 D RGD:7240710 20230517 OMIM
1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9005186 RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA ISO RGD:1312142 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Respiratory infections, recurrent, and failure to thrive with or without diarrhea PMID:25741868|PMID:34952832
1304606 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9008939 Breast Neoplasms ISO RGD:1312142 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20531310
1304607 Tmem216 transmembrane protein 216 gene DOID:0050777 Joubert syndrome ISO RGD:1602714 D RGD:11067331|PMID:20512146 20161111 RGD DNA:missense mutation:exon:c.218G>T(p.R73L)(human)
1304607 Tmem216 transmembrane protein 216 gene DOID:0050777 Joubert syndrome ISO RGD:1602714 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:20036350|PMID:20301500|PMID:20512146|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28497568|PMID:31964843|PMID:36788019|PMID:37486637
1304607 Tmem216 transmembrane protein 216 gene DOID:0050778 Meckel syndrome ISO RGD:1602714 D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532
1304607 Tmem216 transmembrane protein 216 gene DOID:0070116 Meckel syndrome 2 ISO RGD:1602714 D RGD:11067331|PMID:20512146 20161111 RGD DNA:missense,frameshift,nonsense mutations:cds,splice junction:
1304607 Tmem216 transmembrane protein 216 gene DOID:0070116 Meckel syndrome 2 ISO RGD:1602714 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304607 Tmem216 transmembrane protein 216 gene DOID:0070116 Meckel syndrome 2 ISO RGD:1602714 D RGD:7240710 20130221 OMIM
1304607 Tmem216 transmembrane protein 216 gene DOID:0070116 Meckel syndrome 2 ISO RGD:1602714 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2 PMID:16199547|PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568|PMID:31964843|PMID:32483926|PMID:34448047|PMID:36788019|PMID:37486637|PMID:39191256
1304607 Tmem216 transmembrane protein 216 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532
1304607 Tmem216 transmembrane protein 216 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602714 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20036350|PMID:20301500|PMID:20307669|PMID:20512146|PMID:22282472|PMID:22406018|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568|PMID:31964843|PMID:32483926|PMID:34448047|PMID:36788019|PMID:37486637|PMID:39191256|PMID:9536098
1304607 Tmem216 transmembrane protein 216 gene DOID:0110988 Joubert Syndrome 2 ISO RGD:1602714 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304607 Tmem216 transmembrane protein 216 gene DOID:0110988 Joubert Syndrome 2 ISO RGD:1602714 D RGD:11561919|PMID:20036350 20161111 RGD DNA:misense mutation:exon:c.35G>T(p.R12L)(human)
1304607 Tmem216 transmembrane protein 216 gene DOID:0110988 Joubert Syndrome 2 ISO RGD:1602714 D RGD:7240710 20130221 OMIM
1304607 Tmem216 transmembrane protein 216 gene DOID:0110988 Joubert Syndrome 2 ISO RGD:1602714 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome 2 PMID:16199547|PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568|PMID:31964843|PMID:32483926|PMID:34448047|PMID:36788019|PMID:37486637|PMID:39191256
1304607 Tmem216 transmembrane protein 216 gene DOID:1059 intellectual disability ISO RGD:1602714 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304607 Tmem216 transmembrane protein 216 gene DOID:630 genetic disease ISO RGD:1602714 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20036350|PMID:20301500|PMID:20512146|PMID:22282472|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532|PMID:31964843|PMID:36788019|PMID:37486637
1304607 Tmem216 transmembrane protein 216 gene DOID:8501 fundus dystrophy ISO RGD:1602714 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:32483926|PMID:34448047
1304607 Tmem216 transmembrane protein 216 gene DOID:9006534 Nervous System Malformations ISO RGD:1602714 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20036350|PMID:20512146|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532
1304607 Tmem216 transmembrane protein 216 gene DOID:9009232 Retinitis Pigmentosa 98 ISO RGD:1602714 D RGD:7240710 20241106 OMIM
1304607 Tmem216 transmembrane protein 216 gene DOID:9009232 Retinitis Pigmentosa 98 ISO RGD:1602714 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 98 PMID:16199547|PMID:20512146|PMID:25741868|PMID:28492532|PMID:39191256
1304608 Tecrl trans-2,3-enoyl-CoA reductase-like gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1604717 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
1304608 Tecrl trans-2,3-enoyl-CoA reductase-like gene DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 ISO RGD:1604717 D RGD:7240710 20190315 OMIM
1304608 Tecrl trans-2,3-enoyl-CoA reductase-like gene DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 ISO RGD:1604717 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 3 | ClinVar Annotator: match by term: TECRL-related condition PMID:17666061|PMID:25741868|PMID:27861123|PMID:30790670|PMID:31737537|PMID:32173957|PMID:33367594
1304608 Tecrl trans-2,3-enoyl-CoA reductase-like gene DOID:2843 long QT syndrome ISO RGD:1604717 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:27861123|PMID:30790670
1304608 Tecrl trans-2,3-enoyl-CoA reductase-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604717 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304611 Zfp496 zinc finger protein 496 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1312150 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868
1304611 Zfp496 zinc finger protein 496 gene DOID:1540 parathyroid carcinoma ISO RGD:1312150 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1304611 Zfp496 zinc finger protein 496 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312150 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1304612 Rasgrp3 RAS guanyl releasing protein 3 gene DOID:10763 hypertension ISO RGD:1312152 D RGD:2314812|PMID:19421330 20091130 RGD
1304612 Rasgrp3 RAS guanyl releasing protein 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1312152 D RGD:8554872 20160719 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431
1304612 Rasgrp3 RAS guanyl releasing protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1312152 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19838193
1304613 Alpk1 alpha-kinase 1 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1351787 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:25741868
1304613 Alpk1 alpha-kinase 1 gene DOID:11664 nephrosclerosis ISO RGD:1351787 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27542954
1304613 Alpk1 alpha-kinase 1 gene DOID:12271 aniridia ISO RGD:1351787 D RGD:8554872 20161108 ClinVar ClinVar Annotator: match by term: Congenital aniridia
1304613 Alpk1 alpha-kinase 1 gene DOID:13189 gout ISO RGD:1351787 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27542954
1304613 Alpk1 alpha-kinase 1 gene DOID:630 genetic disease ISO RGD:1351787 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30967659|PMID:31053777|PMID:31939038|PMID:35868845
1304613 Alpk1 alpha-kinase 1 gene DOID:9001981 Weight Loss ISO RGD:1351787 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27542954
1304613 Alpk1 alpha-kinase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351787 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27542954
1304613 Alpk1 alpha-kinase 1 gene DOID:9005477 Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome ISO RGD:1351787 D RGD:7240710 20201111 OMIM
1304613 Alpk1 alpha-kinase 1 gene DOID:9005477 Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome ISO RGD:1351787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome PMID:25741868|PMID:28492532|PMID:30967659|PMID:31053777|PMID:31939038|PMID:35868845
1304613 Alpk1 alpha-kinase 1 gene DOID:9351 diabetes mellitus ISO RGD:1351787 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27542954
1304614 Epha6 Eph receptor A6 gene DOID:0110125 Bardet-Biedl syndrome 3 ISO RGD:1605546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 PMID:15258860|PMID:19858128|PMID:20142850|PMID:22334370|PMID:27486776|PMID:28492532|PMID:31736247
1304615 Clybl citramalyl-CoA lyase gene DOID:0110878 holoprosencephaly 5 ISO RGD:1312156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992
1304615 Clybl citramalyl-CoA lyase gene DOID:14701 propionic acidemia ISO RGD:1312156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532
1304615 Clybl citramalyl-CoA lyase gene DOID:4621 holoprosencephaly ISO RGD:1312156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly
1304615 Clybl citramalyl-CoA lyase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312156 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835
1304616 Nop2 NOP2 nucleolar protein gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1312158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532
1304616 Nop2 NOP2 nucleolar protein gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1312158 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532
1304616 Nop2 NOP2 nucleolar protein gene DOID:0111621 Temtamy syndrome ISO RGD:1312158 D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532
1304616 Nop2 NOP2 nucleolar protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1312158 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098
1304618 Kdelr2 KDEL endoplasmic reticulum protein retention receptor 2 gene DOID:0112201 osteogenesis imperfecta type 21 ISO RGD:1312161 D RGD:7240710 20201223 OMIM
1304618 Kdelr2 KDEL endoplasmic reticulum protein retention receptor 2 gene DOID:0112201 osteogenesis imperfecta type 21 ISO RGD:1312161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 21 PMID:25741868|PMID:33053334|PMID:33964184
1304619 Ago1 argonaute RISC component 1 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1312163 D RGD:401900681|PMID:25495208 20231115 RGD DNA:SNP:intron:A>G(rs595961)(human)
1304619 Ago1 argonaute RISC component 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312163 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532
1304619 Ago1 argonaute RISC component 1 gene DOID:1059 intellectual disability ISO RGD:1312163 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25356899|PMID:25741868|PMID:27620904|PMID:28492532|PMID:30213762|PMID:34930816
1304619 Ago1 argonaute RISC component 1 gene DOID:1790 malignant mesothelioma ISO RGD:1312163 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25756049
1304619 Ago1 argonaute RISC component 1 gene DOID:630 genetic disease ISO RGD:1312163 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23809764|PMID:25356899|PMID:25741868|PMID:30213762|PMID:34930816
1304619 Ago1 argonaute RISC component 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312163 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23020937|PMID:25741868|PMID:30213762|PMID:34930816
1304619 Ago1 argonaute RISC component 1 gene DOID:9006049 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1312163 D RGD:7240710 20230505 OMIM
1304619 Ago1 argonaute RISC component 1 gene DOID:9006049 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1312163 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: AGO1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures PMID:23020937|PMID:25356899|PMID:25741868|PMID:27620904|PMID:28492532|PMID:30213762|PMID:34930816
1304620 Rabgap1l RAB GTPase activating protein 1-like gene DOID:1540 parathyroid carcinoma ISO RGD:1347519 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1304620 Rabgap1l RAB GTPase activating protein 1-like gene DOID:3755 antithrombin III deficiency ISO RGD:1347519 D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency
1304620 Rabgap1l RAB GTPase activating protein 1-like gene DOID:869 cholesteatoma ISO RGD:1347519 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma
1304620 Rabgap1l RAB GTPase activating protein 1-like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347519 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1304620 Rabgap1l RAB GTPase activating protein 1-like gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1347519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682
1304620 Rabgap1l RAB GTPase activating protein 1-like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347519 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1304621 Urb1 URB1 ribosome biogenesis homolog gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532
1304621 Urb1 URB1 ribosome biogenesis homolog gene DOID:0060898 Parkinson's disease 20 ISO RGD:1353651 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532
1304621 Urb1 URB1 ribosome biogenesis homolog gene DOID:0060953 ZTTK syndrome ISO RGD:1353651 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868
1304621 Urb1 URB1 ribosome biogenesis homolog gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532
1304621 Urb1 URB1 ribosome biogenesis homolog gene DOID:0111995 immunodeficiency 28 ISO RGD:1353651 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:17237124|PMID:23512985|PMID:28492532
1304621 Urb1 URB1 ribosome biogenesis homolog gene DOID:630 genetic disease ISO RGD:1353651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
1304621 Urb1 URB1 ribosome biogenesis homolog gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:1353651 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 PMID:17237124|PMID:23512985|PMID:28492532
1304621 Urb1 URB1 ribosome biogenesis homolog gene DOID:9006725 Glucocorticoid Deficiency 2 ISO RGD:1353651 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 2 | ClinVar Annotator: match by term: MRAP-related condition PMID:25741868|PMID:28492532
1304622 Kiaa1614 KIAA1614 homolog gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532
1304622 Kiaa1614 KIAA1614 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1605647 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1304622 Kiaa1614 KIAA1614 homolog gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605647 D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682
1304622 Kiaa1614 KIAA1614 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605647 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1304623 Cgnl1 cingulin-like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1353387 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546
1304623 Cgnl1 cingulin-like 1 gene DOID:2717 Bloom syndrome ISO RGD:1353387 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
1304623 Cgnl1 cingulin-like 1 gene DOID:9256 colorectal cancer ISO RGD:1353387 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
1304625 Map3k6 mitogen-activated protein kinase kinase kinase 6 gene DOID:0080600 COVID-19 ISO RGD:1312170 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1304627 Chat choline O-acetyltransferase gene DOID:0050741 alcohol dependence ISO RGD:1549990 D RGD:401976285|PMID:8436061 20240219 RGD protein:decreased expression:hippocampus,septum,striatum
1304627 Chat choline O-acetyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1312173 D RGD:11554173 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546
1304627 Chat choline O-acetyltransferase gene DOID:0080908 Cockayne syndrome B ISO RGD:1312173 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Cockayne Syndrome, Type II PMID:25741868|PMID:38177409
1304627 Chat choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:1312173 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304627 Chat choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:1312173 D RGD:7240710 20130221 OMIM
1304627 Chat choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:1312173 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: CHAT-related condition | ClinVar Annotator: match by term: Familial infantile myasthenia PMID:11172068|PMID:12548525|PMID:12609506|PMID:12756141|PMID:15381704|PMID:15701560|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19520274|PMID:19900826|PMID:21786365|PMID:21948486|PMID:22678886|PMID:23292760|PMID:24033266|PMID:25741868|PMID:26080897|PMID:26467025|PMID:26789281|PMID:28492532|PMID:28497657|PMID:28991257|PMID:29054425|PMID:29189923|PMID:32368696|PMID:33820833|PMID:34431804|PMID:34740919|PMID:34930662|PMID:36308527|PMID:38304750|PMID:9073174|PMID:9536098
1304627 Chat choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 ISS RGD:1549990 D RGD:13592920 20230718 MouseDO OMIM:254210
1304627 Chat choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 susceptibility ISO RGD:1312173 D RGD:1600831|PMID:11172068 20070328 RGD DNA:frameshift mutation, missense mutations (human)
1304627 Chat choline O-acetyltransferase gene DOID:0110672 congenital myasthenic syndrome 21 ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 21 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 21, presynaptic | ClinVar Annotator: match by term: SLC18A3-related condition PMID:25741868|PMID:27590285|PMID:28492532
1304627 Chat choline O-acetyltransferase gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:1312173 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:12548525|PMID:21786365|PMID:23292760|PMID:25741868|PMID:28492532
1304627 Chat choline O-acetyltransferase gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1312173 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:25741868
1304627 Chat choline O-acetyltransferase gene DOID:10652 Alzheimer's disease IEP D RGD:1600851|PMID:16834974 20070328 RGD
1304627 Chat choline O-acetyltransferase gene DOID:10652 Alzheimer's disease ISO RGD:1312173 D RGD:1358495|PMID:12401548 20151215 RGD DNA:polymorphism:CDS:4G>A (human)
1304627 Chat choline O-acetyltransferase gene DOID:11372 megacolon ISO RGD:1312173 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
1304627 Chat choline O-acetyltransferase gene DOID:12858 Huntington's disease ISO RGD:1549990 D RGD:5686805|PMID:16987871 20120126 RGD mRNA:decreased expression:cerebral cortex
1304627 Chat choline O-acetyltransferase gene DOID:13550 angle-closure glaucoma ISO RGD:1312173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:27064256
1304627 Chat choline O-acetyltransferase gene DOID:1596 depressive disorder IEP D RGD:151347550|PMID:28420875 20220126 RGD mRNA:decreased expression:habenula:
1304627 Chat choline O-acetyltransferase gene DOID:1596 depressive disorder IMP D RGD:151347550|PMID:28420875 20220126 RGD
1304627 Chat choline O-acetyltransferase gene DOID:2841 asthma IEP D RGD:5686690|PMID:17328924 20070328 RGD Protein:decreased expression:lung epithelium
1304627 Chat choline O-acetyltransferase gene DOID:3635 congenital myasthenic syndrome ISO RGD:1312173 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Synaptic congenital myasthenic syndrome PMID:11172068|PMID:12548525|PMID:19520274|PMID:21786365|PMID:22678886|PMID:23292760|PMID:24033266|PMID:25741868|PMID:25741895|PMID:26080897|PMID:28492532|PMID:28497657|PMID:28991257|PMID:29189923|PMID:32368696|PMID:33820833
1304627 Chat choline O-acetyltransferase gene DOID:3635 congenital myasthenic syndrome ISO RGD:1312173 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:11172068|PMID:12548525|PMID:16199547|PMID:19520274|PMID:21786365|PMID:22678886|PMID:23292760|PMID:24033266|PMID:25741868|PMID:26080897|PMID:28492532|PMID:28497657|PMID:28991257|PMID:29189923|PMID:32368696|PMID:33820833
1304627 Chat choline O-acetyltransferase gene DOID:535 sleep disorder ISO RGD:1312173 D RGD:8554872 20201222 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868
1304627 Chat choline O-acetyltransferase gene DOID:5419 schizophrenia ISO RGD:1312173 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1304627 Chat choline O-acetyltransferase gene DOID:5679 retinal disease ISO RGD:1312173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23075401
1304627 Chat choline O-acetyltransferase gene DOID:630 genetic disease ISO RGD:1312173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532
1304627 Chat choline O-acetyltransferase gene DOID:9002563 Gait Ataxia ISO RGD:1312173 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Gait ataxia PMID:25741868
1304627 Chat choline O-acetyltransferase gene DOID:9004009 Reperfusion Injury ISO RGD:1312173 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23075401
1304627 Chat choline O-acetyltransferase gene DOID:9005532 Muscle Weakness ISO RGD:1312173 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868
1304627 Chat choline O-acetyltransferase gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:402463971|PMID:26282349 20240308 RGD protein:decreased expression:telencephalon
1304627 Chat choline O-acetyltransferase gene DOID:9006302 Binge Drinking IEP D RGD:597538603|PMID:37402853 20250131 RGD mRNA:decreased expression:basal forebrain cholinergic neurons
1304627 Chat choline O-acetyltransferase gene DOID:9220 central sleep apnea ISO RGD:1312173 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Apnea, central sleep PMID:12548525|PMID:15701560|PMID:25741868|PMID:28492532
1304628 Exog exo/endonuclease G gene DOID:0050451 Brugada syndrome ISO RGD:1312174 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532
1304628 Exog exo/endonuclease G gene DOID:0051019 Visceral Heterotaxy 4, Autosomal ISO RGD:1312174 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532
1304628 Exog exo/endonuclease G gene DOID:9001436 Immunodeficiency 68 ISO RGD:1312174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532
1304631 Zfp169 zinc finger protein 169 gene DOID:12642 hiatus hernia ISO RGD:1312178 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hiatus hernia
1304631 Zfp169 zinc finger protein 169 gene DOID:9970 obesity ISO RGD:1312178 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29273807
1304632 Socs6 suppressor of cytokine signaling 6 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1312180 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835
1304632 Socs6 suppressor of cytokine signaling 6 gene DOID:6420 pulmonary valve stenosis ISO RGD:1312180 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868
1304632 Socs6 suppressor of cytokine signaling 6 gene DOID:8445 intestinal volvulus ISO RGD:1312180 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868
1304632 Socs6 suppressor of cytokine signaling 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312180 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304632 Socs6 suppressor of cytokine signaling 6 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1312180 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868
1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:1312182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824
1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1312182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:28492532
1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312182 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532|PMID:30510536
1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:3070 high grade glioma ISO RGD:1312182 D RGD:8554872 20190219 ClinVar ClinVar Annotator: match by term: Ependymoma
1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:9001392 Herpes Simplex Encephalitis 3 ISO RGD:1312182 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 | ClinVar Annotator: match by term: TRAF3 haploinsufficiency | ClinVar Annotator: match by term: TRAF3 related condition PMID:17576681|PMID:20832341|PMID:25741868|PMID:28492532|PMID:31681265|PMID:35960817|PMID:36004314|PMID:9536098
1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:9001392 Herpes Simplex Encephalitis 3 susceptibility ISO RGD:1312182 D RGD:7240710 20190502 OMIM
1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1312182 D RGD:11554173 20171024 CTD CTD Direct Evidence: marker/mechanism
1304633 Traf3 Tnf receptor-associated factor 3 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1312182 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532
1304634 Dph2 diphthamide biosynthesis 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312184 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532|PMID:31584066
1304634 Dph2 diphthamide biosynthesis 2 gene DOID:0070476 diphthamide deficiency syndrome ISO RGD:1312184 D RGD:8554872 20231024 ClinVar ClinVar Annotator: match by term: diphthamide-deficiency syndrome PMID:25741868|PMID:27421267|PMID:32576952
1304634 Dph2 diphthamide biosynthesis 2 gene DOID:0070478 diphthamide deficiency syndrome 2 ISO RGD:1312184 D RGD:7240710 20221123 OMIM
1304634 Dph2 diphthamide biosynthesis 2 gene DOID:0070478 diphthamide deficiency syndrome 2 ISO RGD:1312184 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 PMID:25741868|PMID:27421267|PMID:32576952
1304634 Dph2 diphthamide biosynthesis 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312184 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532
1304634 Dph2 diphthamide biosynthesis 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312184 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532|PMID:31584066
1304634 Dph2 diphthamide biosynthesis 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1312184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32576952
1304635 Atp6v1g3 ATPase H+ transporting V1 subunit G3 gene DOID:1540 parathyroid carcinoma ISO RGD:1312186 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1304635 Atp6v1g3 ATPase H+ transporting V1 subunit G3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312186 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1304636 Sema4a semaphorin 4A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577
1304636 Sema4a semaphorin 4A gene DOID:0050572 cone-rod dystrophy ISO RGD:1312188 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:25741868|PMID:28492532
1304636 Sema4a semaphorin 4A gene DOID:0110357 retinitis pigmentosa 35 ISO RGD:1312188 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304636 Sema4a semaphorin 4A gene DOID:0110357 retinitis pigmentosa 35 ISO RGD:1312188 D RGD:7240710 20130425 OMIM
1304636 Sema4a semaphorin 4A gene DOID:0110357 retinitis pigmentosa 35 ISO RGD:1312188 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 35 PMID:16199541|PMID:20981092|PMID:22956603|PMID:23360997|PMID:24033266|PMID:25307848|PMID:25333069|PMID:25637381|PMID:25741868|PMID:27884173|PMID:28492532|PMID:28805479|PMID:30910914|PMID:32483926|PMID:32531858|PMID:34426522
1304636 Sema4a semaphorin 4A gene DOID:0111017 cone-rod dystrophy 10 ISO RGD:1312188 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304636 Sema4a semaphorin 4A gene DOID:0111017 cone-rod dystrophy 10 ISO RGD:1312188 D RGD:7240710 20130221 OMIM
1304636 Sema4a semaphorin 4A gene DOID:0111017 cone-rod dystrophy 10 ISO RGD:1312188 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 10 | ClinVar Annotator: match by term: SEMA4A-related condition PMID:16199541|PMID:20981092|PMID:22956603|PMID:23360997|PMID:24033266|PMID:24265693|PMID:25307848|PMID:25333069|PMID:25637381|PMID:25741868|PMID:26103963|PMID:27884173|PMID:28492532|PMID:28805479|PMID:30910914|PMID:32483926|PMID:32531858|PMID:34426522
1304636 Sema4a semaphorin 4A gene DOID:0111228 Sveinsson chorioretinal atrophy ISO RGD:1312188 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Helicoid peripapillary chorioretinal degeneration PMID:25741868
1304636 Sema4a semaphorin 4A gene DOID:0111940 immunodeficiency 42 ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532
1304636 Sema4a semaphorin 4A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532
1304636 Sema4a semaphorin 4A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532
1304636 Sema4a semaphorin 4A gene DOID:10584 retinitis pigmentosa ISO RGD:1312188 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:16199541|PMID:23360997|PMID:24033266|PMID:25307848|PMID:25741868|PMID:26103963|PMID:28492532|PMID:28805479|PMID:32483926|PMID:32531858
1304636 Sema4a semaphorin 4A gene DOID:10584 retinitis pigmentosa ISO RGD:1312188 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:16199541|PMID:20981092|PMID:22956603|PMID:23360997|PMID:24033266|PMID:24265693|PMID:25307848|PMID:25333069|PMID:25741868|PMID:26103963|PMID:27884173|PMID:28492532|PMID:28805479|PMID:30910914|PMID:32483926|PMID:32531858|PMID:34426522
1304636 Sema4a semaphorin 4A gene DOID:1540 parathyroid carcinoma ISO RGD:1312188 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1304636 Sema4a semaphorin 4A gene DOID:5723 optic atrophy ISO RGD:1312188 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:24265693|PMID:25741868|PMID:28492532
1304636 Sema4a semaphorin 4A gene DOID:5812 MHC class II deficiency ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532
1304636 Sema4a semaphorin 4A gene DOID:8501 fundus dystrophy ISO RGD:1312188 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199541|PMID:20981092|PMID:22956603|PMID:23360997|PMID:24033266|PMID:24265693|PMID:25307848|PMID:25333069|PMID:25741868|PMID:26103963|PMID:27884173|PMID:28492532|PMID:28805479|PMID:30910914|PMID:32483926|PMID:34426522
1304636 Sema4a semaphorin 4A gene DOID:9004271 Colonic Polyps ISO RGD:1312188 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:25637381|PMID:25741868|PMID:28492532
1304636 Sema4a semaphorin 4A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1312188 D RGD:11554173 20210413 CTD CTD Direct Evidence: marker/mechanism PMID:33290778
1304636 Sema4a semaphorin 4A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312188 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1304636 Sema4a semaphorin 4A gene DOID:9256 colorectal cancer ISO RGD:1312188 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:24265693|PMID:25637381|PMID:25741868|PMID:28492532
1304637 Lto1 LTO1 maturation factor of ABCE1 gene DOID:1059 intellectual disability ISO RGD:1312190 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304637 Lto1 LTO1 maturation factor of ABCE1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1312190 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532
1304637 Lto1 LTO1 maturation factor of ABCE1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1312190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532
1304638 Coq4 coenzyme Q4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312192 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935|PMID:34172529
1304638 Coq4 coenzyme Q4 gene DOID:0050952 spastic ataxia ISO RGD:1312192 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196|PMID:36047608|PMID:38013626
1304638 Coq4 coenzyme Q4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312192 D RGD:7240710 20161109 OMIM
1304638 Coq4 coenzyme Q4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312192 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:16199547|PMID:17576681|PMID:22368301|PMID:25658047|PMID:25741868|PMID:26185144|PMID:26795593|PMID:27513193|PMID:28492532|PMID:28540186|PMID:30109123|PMID:30659264|PMID:31325447|PMID:31332438|PMID:31396399|PMID:31440721|PMID:31967322|PMID:32056211|PMID:32718099|PMID:32860008|PMID:32907636|PMID:33206935|PMID:33215859|PMID:33677064|PMID:33704555|PMID:34440436|PMID:34445196|PMID:34992632|PMID:35598585|PMID:36047608|PMID:38013626|PMID:38014483|PMID:9536098
1304638 Coq4 coenzyme Q4 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1312192 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:34172529
1304638 Coq4 coenzyme Q4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312192 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935|PMID:34172529
1304638 Coq4 coenzyme Q4 gene DOID:543 dystonia ISO RGD:1312192 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:28492532
1304638 Coq4 coenzyme Q4 gene DOID:630 genetic disease ISO RGD:1312192 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25658047|PMID:25741868|PMID:25954003|PMID:26185144|PMID:26795593|PMID:27513193|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28540186|PMID:31967322|PMID:32056211|PMID:32718099|PMID:33677064|PMID:33704555|PMID:34440436|PMID:34445196|PMID:36047608|PMID:9536098
1304638 Coq4 coenzyme Q4 gene DOID:9006071 Spastic Ataxia 10, Autosomal Recessive ISO RGD:1312192 D RGD:7240710 20240124 OMIM
1304638 Coq4 coenzyme Q4 gene DOID:9006071 Spastic Ataxia 10, Autosomal Recessive ISO RGD:1312192 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive PMID:17576681|PMID:25741868|PMID:26185144|PMID:28492532|PMID:30659264|PMID:31325447|PMID:31396399|PMID:33704555|PMID:34992632|PMID:35598585|PMID:36047608|PMID:38013626|PMID:38014483|PMID:9536098
1304638 Coq4 coenzyme Q4 gene DOID:9006534 Nervous System Malformations ISO RGD:1312192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859
1304638 Coq4 coenzyme Q4 gene DOID:9008582 Developmental Disease ISO RGD:1312192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:32056211
1304639 Lig4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312194 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304639 Lig4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312194 D RGD:13204707|PMID:27063650 20170713 RGD DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human)
1304639 Lig4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312194 D RGD:7240710 20130221 OMIM
1304639 Lig4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312194 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders | ClinVar Annotator: match by term: LIG4-related disorder PMID:10395545|PMID:11349135|PMID:11779494|PMID:12471202|PMID:15333585|PMID:16088910|PMID:16358361|PMID:16358631|PMID:16585603|PMID:1779494|PMID:18845326|PMID:21664875|PMID:23337116|PMID:23372718|PMID:24027040|PMID:24033266|PMID:24123394|PMID:24759409|PMID:2489227|PMID:24892279|PMID:2523926|PMID:25239263|PMID:25741868|PMID:26151233|PMID:26608917|PMID:26762768|PMID:27063650|PMID:27577878|PMID:27612988|PMID:27855655|PMID:27893162|PMID:28039949|PMID:28492532|PMID:28866308|PMID:29146883|PMID:30607663|PMID:30719430|PMID:31589614|PMID:31604460|PMID:31696992|PMID:32534991|PMID:34630384|PMID:35592332|PMID:35665709|PMID:35776903|PMID:37004747|PMID:37865086|PMID:5333585|PMID:7063650
1304639 Lig4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312195 D RGD:13204717|PMID:20133615 20170714 RGD DNA:missense mutation: :p.R278H (mouse)
1304639 Lig4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312195 D RGD:8694074|PMID:19451691 20140723 RGD DNA:missense mutation: :p.Y288C (mouse)
1304639 Lig4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISS RGD:1312195 D RGD:13592920 20230718 MouseDO OMIM:606593
1304639 Lig4 DNA ligase 4 gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1312194 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:12471202|PMID:24033266|PMID:25741868|PMID:28492532|PMID:37004747
1304639 Lig4 DNA ligase 4 gene DOID:10283 prostate cancer treatment ISO RGD:1312194 D RGD:13204720|PMID:16638864 20170714 RGD
1304639 Lig4 DNA ligase 4 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1312194 D RGD:2317363|PMID:19147782 20100416 RGD associated with Diabetes Mellitus;DNA:polymorphism: :54C>T (human)
1304639 Lig4 DNA ligase 4 gene DOID:3070 high grade glioma ISO RGD:1312194 D RGD:13204718|PMID:23663450 20170714 RGD DNA:SNP: :rs1805388 (human)
1304639 Lig4 DNA ligase 4 gene DOID:3969 papillary thyroid carcinoma ISO RGD:1312194 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:25741868
1304639 Lig4 DNA ligase 4 gene DOID:627 severe combined immunodeficiency ISO RGD:1312194 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:16585603|PMID:18845326|PMID:26151233|PMID:26762768|PMID:28492532|PMID:31604460|PMID:34630384
1304639 Lig4 DNA ligase 4 gene DOID:630 genetic disease ISO RGD:1312194 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11779494|PMID:15333585|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24759409|PMID:24892279|PMID:2523926|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|PMID:28866308|PMID:29146883|PMID:31589614|PMID:31604460|PMID:35592332
1304639 Lig4 DNA ligase 4 gene DOID:6536 plasma cell neoplasm ISO RGD:1312194 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532
1304639 Lig4 DNA ligase 4 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312194 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835
1304639 Lig4 DNA ligase 4 gene DOID:9003571 Paraproteinemias ISO RGD:1312194 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532
1304639 Lig4 DNA ligase 4 gene DOID:9256 colorectal cancer ISO RGD:1312194 D RGD:8694072|PMID:24282031 20140723 RGD DNA, mRNA:hypermethylation, decreased expression
1304639 Lig4 DNA ligase 4 gene DOID:9538 multiple myeloma ISO RGD:1312194 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304639 Lig4 DNA ligase 4 gene DOID:9538 multiple myeloma ISO RGD:1312194 D RGD:1600305|PMID:12471202 20070306 RGD DNA:polymorphisms
1304639 Lig4 DNA ligase 4 gene DOID:9538 multiple myeloma ISO RGD:1312194 D RGD:7240710 20130221 OMIM
1304639 Lig4 DNA ligase 4 gene DOID:9538 multiple myeloma ISO RGD:1312194 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis PMID:11779494|PMID:12471202|PMID:15333585|PMID:16088910|PMID:24033266|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532
1304641 Stim2 stromal interaction molecule 2 gene DOID:9004657 Weight Gain ISO RGD:1312198 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19030233
1304643 Aste1 asteroid homolog 1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1606299 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765
1304643 Aste1 asteroid homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:1606299 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765
1304643 Aste1 asteroid homolog 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1606299 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868
1304643 Aste1 asteroid homolog 1 gene DOID:9270 alkaptonuria ISO RGD:1606299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532
1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:0050694 Brown-Vialetto-Van Laere syndrome ISO RGD:1312203 D RGD:11554173 20190326 CTD CTD Direct Evidence: marker/mechanism
1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:0050694 Brown-Vialetto-Van Laere syndrome ISO RGD:1312203 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Pontobulbar palsy and neurosensory deafness PMID:22718020|PMID:24033266|PMID:25741868|PMID:26072523|PMID:27702554|PMID:28492532|PMID:29501408|PMID:33189404|PMID:33325104|PMID:34426522|PMID:34662687
1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1312203 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:28220687
1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:0080632 Fazio-Londe disease ISO RGD:1312203 D RGD:7240710 20200311 OMIM
1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:0080632 Fazio-Londe disease ISO RGD:1312203 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Childhood Progressive Bulbar Palsy | ClinVar Annotator: match by term: Progressive bulbar palsy of childhood PMID:20206331|PMID:20920669|PMID:21110228|PMID:22273710|PMID:22824638|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:28492532|PMID:29053833|PMID:29950502|PMID:29961494|PMID:34662687
1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1312203 D RGD:7240710 20190320 OMIM
1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1312203 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:16122634|PMID:16199547|PMID:17576681|PMID:2020633|PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22273710|PMID:22633641|PMID:22718020|PMID:22740598|PMID:22824638|PMID:23107375|PMID:23506902|PMID:23688382|PMID:24033266|PMID:24239381|PMID:25462087|PMID:25741868|PMID:26072523|PMID:26443808|PMID:27702554|PMID:27777325|PMID:28251916|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29501408|PMID:29950502|PMID:29961494|PMID:32579787|PMID:33087424|PMID:33189404|PMID:33325104|PMID:34395718|PMID:34426522|PMID:34662687|PMID:37116404|PMID:9536098
1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:231 motor neuron disease ISO RGD:1312203 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Madras motor neuron disease PMID:25741868|PMID:28492532|PMID:32579787
1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312203 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:20729853
1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:630 genetic disease ISO RGD:1312203 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22718020|PMID:22740598|PMID:22824638|PMID:23506902|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:26072523|PMID:26443808|PMID:27702554|PMID:27777325|PMID:28251916|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29501408|PMID:29961494|PMID:32579787|PMID:33087424|PMID:33189404|PMID:33325104|PMID:34395718|PMID:34426522|PMID:34662687|PMID:37116404
1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:681 progressive bulbar palsy ISO RGD:1312203 D RGD:11554173 20200317 CTD CTD Direct Evidence: marker/mechanism
1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:9001890 Auditory Neuropathy ISO RGD:1312203 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy PMID:25741868|PMID:28492532|PMID:32579787
1304644 Slc52a3 solute carrier family 52 member 3 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1312203 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532
1304646 Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312206 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
1304646 Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:0060476 Perlman syndrome ISO RGD:1312206 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:25741868
1304646 Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:0080279 Joubert syndrome 33 ISO RGD:1312206 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: PIBF1-related condition PMID:25741868|PMID:28492532
1304646 Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:9538 multiple myeloma ISO RGD:1312206 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiple myeloma
1304647 Snx6 sorting nexin 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1312208 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868
1304648 Pskh1 protein serine kinase H1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1312210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532
1304648 Pskh1 protein serine kinase H1 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1312210 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868
1304648 Pskh1 protein serine kinase H1 gene DOID:9009191 Progressive Familial Intrahepatic Cholestasis 13 ISO RGD:1312210 D RGD:7240710 20241016 OMIM
1304648 Pskh1 protein serine kinase H1 gene DOID:9009191 Progressive Familial Intrahepatic Cholestasis 13 ISO RGD:1312210 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 13 PMID:39132680
1304649 Cdc14a cell division cycle 14A gene DOID:0110491 autosomal recessive nonsyndromic deafness 32 ISO RGD:1312211 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:27259055|PMID:29293958
1304649 Cdc14a cell division cycle 14A gene DOID:0110491 autosomal recessive nonsyndromic deafness 32 ISO RGD:1312211 D RGD:7240710 20190315 OMIM
1304649 Cdc14a cell division cycle 14A gene DOID:0110491 autosomal recessive nonsyndromic deafness 32 ISO RGD:1312211 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: CDC14A-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32 PMID:12634867|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27259055|PMID:28492532|PMID:29293958|PMID:31850270|PMID:31906439|PMID:32747562|PMID:34426522
1304649 Cdc14a cell division cycle 14A gene DOID:0110491 autosomal recessive nonsyndromic deafness 32 ISS RGD:1312212 D RGD:13592920 20230718 MouseDO OMIM:608653
1304649 Cdc14a cell division cycle 14A gene DOID:10003 sensorineural hearing loss ISO RGD:1312211 D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868
1304649 Cdc14a cell division cycle 14A gene DOID:12336 male infertility ISO RGD:1312211 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29293958
1304649 Cdc14a cell division cycle 14A gene DOID:14228 oligospermia ISO RGD:1312211 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29293958
1304649 Cdc14a cell division cycle 14A gene DOID:630 genetic disease ISO RGD:1312211 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1304649 Cdc14a cell division cycle 14A gene DOID:9008681 Deafness ISO RGD:1312211 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29293958
1304649 Cdc14a cell division cycle 14A gene DOID:9269 maple syrup urine disease ISO RGD:1312211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532
1304651 Ppp1r13b protein phosphatase 1, regulatory subunit 13B gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532
1304651 Ppp1r13b protein phosphatase 1, regulatory subunit 13B gene DOID:9001392 Herpes Simplex Encephalitis 3 ISO RGD:1312214 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 PMID:28492532
1304651 Ppp1r13b protein phosphatase 1, regulatory subunit 13B gene DOID:9007491 Childhood Schizophrenia ISO RGD:1312214 D RGD:8554872 20151208 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570
1304653 Ccdc115 coiled-coil domain containing 115 gene DOID:0070267 congenital disorder of glycosylation type IIo ISO RGD:1603946 D RGD:7240710 20190315 OMIM
1304653 Ccdc115 coiled-coil domain containing 115 gene DOID:0070267 congenital disorder of glycosylation type IIo ISO RGD:1603946 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CCDC115-CDG | ClinVar Annotator: match by term: CCDC115-related condition PMID:24033266|PMID:25741868|PMID:26833332|PMID:28492532|PMID:29759592|PMID:33413482
1304653 Ccdc115 coiled-coil domain containing 115 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1603946 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation type II PMID:24033266|PMID:25741868|PMID:26833332|PMID:28492532|PMID:29759592|PMID:33413482
1304653 Ccdc115 coiled-coil domain containing 115 gene DOID:630 genetic disease ISO RGD:1603946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
1304655 Tmprss7 transmembrane serine protease 7 gene DOID:303 substance-related disorder ISO RGD:1312220 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20098672
1304658 Tenm4 teneurin transmembrane protein 4 gene DOID:0111432 essential tremor 5 ISO RGD:1312224 D RGD:7240710 20190315 OMIM
1304658 Tenm4 teneurin transmembrane protein 4 gene DOID:0111432 essential tremor 5 ISO RGD:1312224 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: TENM4-related condition | ClinVar Annotator: match by term: Tremor, hereditary essential, 5 PMID:25741868|PMID:26188006|PMID:28158909|PMID:28492532|PMID:34426522
1304658 Tenm4 teneurin transmembrane protein 4 gene DOID:1059 intellectual disability ISO RGD:1312224 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304658 Tenm4 teneurin transmembrane protein 4 gene DOID:3312 bipolar disorder ISO RGD:1312224 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21926972
1304658 Tenm4 teneurin transmembrane protein 4 gene DOID:5679 retinal disease ISO RGD:1312224 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinal Diseases
1304658 Tenm4 teneurin transmembrane protein 4 gene DOID:630 genetic disease ISO RGD:1312224 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868
1304658 Tenm4 teneurin transmembrane protein 4 gene DOID:674 cleft palate ISO RGD:1312224 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cleft palate
1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577
1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1312226 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532
1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations ISO RGD:1312226 D RGD:7240710 20190315 OMIM
1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations ISO RGD:1312226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ARHGEF2-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with midbrain and hindbrain malformations PMID:25741868|PMID:28453519|PMID:28492532
1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations ISS RGD:1312227 D RGD:13592920 20230718 MouseDO OMIM:617523
1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532
1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532
1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532
1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:10907 microcephaly ISO RGD:1312226 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868
1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312226 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:2661 myoepithelioma ISO RGD:1312226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor
1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:5812 MHC class II deficiency ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532
1304659 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312226 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ISO RGD:1312228 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532
1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1312228 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532
1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1312228 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532
1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:0080600 COVID-19 severity ISO RGD:1312228 D RGD:30309209|PMID:32360286 20200618 RGD protein:increased expression:plasma (human)
1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:0080942 anauxetic dysplasia ISO RGD:1312228 D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532
1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1312228 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532
1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1312228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532
1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:1790 malignant mesothelioma ISO RGD:1312228 D RGD:11554173 20210308 CTD CTD Direct Evidence: marker/mechanism PMID:25162674
1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:2773 contact dermatitis ISO RGD:1312228 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25724174
1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:2841 asthma ISO RGD:1312228 D RGD:9068941 20200609 RGD PMID:19541356|REF_RGD_ID:5130899
1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:3310 atopic dermatitis ISO RGD:1312228 D RGD:1626250|PMID:12642842 20070727 RGD
1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:607 paraplegia ISO RGD:1312228 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:23332916|PMID:23332917|PMID:28492532
1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312228 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532
1304660 Ccl27 C-C motif chemokine ligand 27 gene DOID:9870 galactosemia ISO RGD:1312228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532
1304661 Serpinb13 serpin family B member 13 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1312230 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835
1304661 Serpinb13 serpin family B member 13 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1312230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532
1304661 Serpinb13 serpin family B member 13 gene DOID:10283 prostate cancer ISO RGD:1312230 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate
1304662 Pla2g12a phospholipase A2, group XIIA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312232 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1304664 Slc39a6 solute carrier family 39 member 6 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1312236 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:31690835
1304664 Slc39a6 solute carrier family 39 member 6 gene DOID:1059 intellectual disability ISO RGD:1312236 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304664 Slc39a6 solute carrier family 39 member 6 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312236 D RGD:11554173 20200407 CTD CTD Direct Evidence: therapeutic PMID:23644492
1304664 Slc39a6 solute carrier family 39 member 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312236 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12839489
1304664 Slc39a6 solute carrier family 39 member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312236 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1304664 Slc39a6 solute carrier family 39 member 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1312236 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12839489
1304665 Pcdhb5 protocadherin beta 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1312238 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532
1304665 Pcdhb5 protocadherin beta 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312238 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1304665 Pcdhb5 protocadherin beta 5 gene DOID:1826 epilepsy ISO RGD:1312238 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065
1304665 Pcdhb5 protocadherin beta 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312238 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304665 Pcdhb5 protocadherin beta 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312238 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1304667 Kcna10 potassium voltage-gated channel subfamily A member 10 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1312242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230
1304667 Kcna10 potassium voltage-gated channel subfamily A member 10 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1312242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532
1304667 Kcna10 potassium voltage-gated channel subfamily A member 10 gene DOID:12849 autistic disorder ISO RGD:1312242 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1304667 Kcna10 potassium voltage-gated channel subfamily A member 10 gene DOID:2843 long QT syndrome ISO RGD:1312242 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome
1304667 Kcna10 potassium voltage-gated channel subfamily A member 10 gene DOID:3426 vestibular disease ISS RGD:1621289 D RGD:13592920 20180518 MouseDO
1304668 Blmh bleomycin hydrolase gene DOID:0080348 Alzheimer's disease 1 ISO RGD:1312244 D RGD:8554872 20241015 ClinVar ClinVar Annotator: match by term: BLEOMYCIN HYDROLASE POLYMORPHISM PMID:25741868|PMID:8639621
1304668 Blmh bleomycin hydrolase gene DOID:0111253 neurofibromatosis 1 ISO RGD:1312244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532
1304669 Ccndbp1 cyclin D1 binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1312246 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
1304669 Ccndbp1 cyclin D1 binding protein 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1312246 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:16501603
1304669 Ccndbp1 cyclin D1 binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1312246 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
1304670 Cyb561a3 cytochrome b561 family, member A3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532
1304670 Cyb561a3 cytochrome b561 family, member A3 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1350964 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:25741868
1304670 Cyb561a3 cytochrome b561 family, member A3 gene DOID:1059 intellectual disability ISO RGD:1350964 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304672 Castor2 cytosolic arginine sensor for mTORC1 subunit 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2306471 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1304675 Plch2 phospholipase C, eta 2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594
1304675 Plch2 phospholipase C, eta 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346590 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome
1304675 Plch2 phospholipase C, eta 2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1346590 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316
1304675 Plch2 phospholipase C, eta 2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1346590 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532
1304675 Plch2 phospholipase C, eta 2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594
1304675 Plch2 phospholipase C, eta 2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594
1304675 Plch2 phospholipase C, eta 2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594
1304675 Plch2 phospholipase C, eta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346590 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304675 Plch2 phospholipase C, eta 2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1346590 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316
1304675 Plch2 phospholipase C, eta 2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594
1304676 Tollip toll interacting protein gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1312257 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
1304676 Tollip toll interacting protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312257 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532
1304676 Tollip toll interacting protein gene DOID:0060971 interstitial lung disease 2 ISO RGD:1312257 D RGD:8554872 20240702 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2
1304676 Tollip toll interacting protein gene DOID:0080773 delta beta-thalassemia ISO RGD:1312257 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417
1304676 Tollip toll interacting protein gene DOID:0111969 immunodeficiency 39 ISO RGD:1312257 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532
1304676 Tollip toll interacting protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312257 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532
1304676 Tollip toll interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312257 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532
1304676 Tollip toll interacting protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1312257 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
1304676 Tollip toll interacting protein gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1312257 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:21910219|PMID:25427884|PMID:28492532
1304676 Tollip toll interacting protein gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1312257 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532
1304677 Pank1 pantothenate kinase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1312259 D RGD:11554173 20230905 CTD CTD Direct Evidence: therapeutic PMID:35589691
1304678 Gdf1 growth differentiation factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1312261 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304678 Gdf1 growth differentiation factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1312261 D RGD:7240710 20130925 OMIM
1304678 Gdf1 growth differentiation factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1312261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy PMID:17924340|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257
1304678 Gdf1 growth differentiation factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1312261 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: GDF1-related condition | ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877
1304678 Gdf1 growth differentiation factor 1 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1312261 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17924340
1304678 Gdf1 growth differentiation factor 1 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1312261 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877
1304678 Gdf1 growth differentiation factor 1 gene DOID:0060772 multiple types of congenital heart defects 6 ISO RGD:1312261 D RGD:7240710 20140903 OMIM
1304678 Gdf1 growth differentiation factor 1 gene DOID:0060772 multiple types of congenital heart defects 6 ISO RGD:1312261 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:26633542|PMID:28492532|PMID:28991257|PMID:32144877|PMID:34958143
1304678 Gdf1 growth differentiation factor 1 gene DOID:0060850 annular pancreas ISS RGD:1312262 D RGD:13592920 20180518 MouseDO OMIM:167750
1304678 Gdf1 growth differentiation factor 1 gene DOID:0060856 right atrial isomerism ISO RGD:1312261 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Right atrial isomerism PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877|PMID:33131162|PMID:34486251
1304678 Gdf1 growth differentiation factor 1 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1312261 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:16199547|PMID:17576681|PMID:19243074|PMID:24033266|PMID:24782409|PMID:25741868|PMID:28492532|PMID:30800706|PMID:9536098
1304678 Gdf1 growth differentiation factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1312261 D RGD:11252017|PMID:24275554 20230413 RGD mRNA,protein:increased expression:heart (human)
1304678 Gdf1 growth differentiation factor 1 gene DOID:1682 congenital heart disease ISO RGD:1312261 D RGD:11554173 20171114 CTD CTD Direct Evidence: marker/mechanism PMID:28991257
1304678 Gdf1 growth differentiation factor 1 gene DOID:1682 congenital heart disease ISO RGD:1312261 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:26633542|PMID:28492532|PMID:28991257|PMID:34958143
1304678 Gdf1 growth differentiation factor 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1312261 D RGD:11536909|PMID:26656983 20230412 RGD DNA:SNPs:exon8: (rs4808863) (human)
1304678 Gdf1 growth differentiation factor 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1312261 D RGD:243065149|PMID:23076529 20230412 RGD DNA:SNPs,haplotypes: (rs7250622,rs4808867, rs4808870) (human)
1304678 Gdf1 growth differentiation factor 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1312261 D RGD:243065147|PMID:36268984 20230412 RGD associated with Stable Angina; protein:decreased expression:blood plasma (human)
1304678 Gdf1 growth differentiation factor 1 gene DOID:630 genetic disease ISO RGD:1312261 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17924340|PMID:20413652|PMID:28492532|PMID:32144877
1304678 Gdf1 growth differentiation factor 1 gene DOID:6406 double outlet right ventricle ISO RGD:1312261 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17924340
1304678 Gdf1 growth differentiation factor 1 gene DOID:6406 double outlet right ventricle ISO RGD:1312261 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:17924340|PMID:25741868
1304678 Gdf1 growth differentiation factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1312261 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17924340
1304678 Gdf1 growth differentiation factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1312261 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:17924340|PMID:28492532
1304678 Gdf1 growth differentiation factor 1 gene DOID:9003936 Cardiomegaly exacerbates ISO RGD:1312262 D RGD:11252017|PMID:24275554 20230413 RGD
1304678 Gdf1 growth differentiation factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1312261 D RGD:11252030|PMID:25726944 20230405 RGD protein:increased expression:Left ventricle (human)
1304678 Gdf1 growth differentiation factor 1 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:1312262 D RGD:11252030|PMID:25726944 20230405 RGD associated with myocardial infarction
1304678 Gdf1 growth differentiation factor 1 gene DOID:9008288 situs inversus ISO RGD:1312261 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:17924340|PMID:20413652|PMID:28492532|PMID:32144877
1304678 Gdf1 growth differentiation factor 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1312261 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532
1304679 Chordc1 cysteine and histidine rich domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1312263 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304679 Chordc1 cysteine and histidine rich domain containing 1 gene DOID:8552 chronic myeloid leukemia ISS RGD:1312264 D RGD:13592920 20180518 MouseDO OMIM:608232
1304679 Chordc1 cysteine and histidine rich domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312263 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304680 Epha1 Eph receptor A1 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1312265 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:25741868
1304680 Epha1 Eph receptor A1 gene DOID:10652 Alzheimer's disease ISO RGD:1312265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21460840|PMID:21460841
1304680 Epha1 Eph receptor A1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312265 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19277044
1304681 Abhd11 abhydrolase domain containing 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1606493 D RGD:8554872 20161011 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545
1304681 Abhd11 abhydrolase domain containing 11 gene DOID:12849 autistic disorder ISO RGD:1606493 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1304681 Abhd11 abhydrolase domain containing 11 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1606493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868
1304681 Abhd11 abhydrolase domain containing 11 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1606493 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740
1304681 Abhd11 abhydrolase domain containing 11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606493 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1304681 Abhd11 abhydrolase domain containing 11 gene DOID:5419 schizophrenia ISO RGD:1606493 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1304681 Abhd11 abhydrolase domain containing 11 gene DOID:8445 intestinal volvulus ISO RGD:1606493 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868
1304681 Abhd11 abhydrolase domain containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606493 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304681 Abhd11 abhydrolase domain containing 11 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1606493 D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868
1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:0061010 craniosynostosis 1 ISO RGD:1312269 D RGD:8554872 20241203 ClinVar ClinVar Annotator: match by term: TWIST1-related craniosynostosis PMID:28492532
1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1312269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21411543
1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532
1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532
1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:4450 renal cell carcinoma ISO RGD:1312269 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22138691
1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:630 genetic disease ISO RGD:1312269 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29861105|PMID:34440880
1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532
1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:9006836 Contracture ISO RGD:1312269 D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Contractures
1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:9007907 Congenital Myopathy with Neuropathy and Deafness ISO RGD:1312269 D RGD:7240710 20190315 OMIM
1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:9007907 Congenital Myopathy with Neuropathy and Deafness ISO RGD:1312269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness | ClinVar Annotator: match by term: SPTBN4-related condition PMID:25741868|PMID:28492532|PMID:28540413|PMID:29861105|PMID:34440880
1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1312269 D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Global developmental delay
1304682 Sptbn4 spectrin, beta, non-erythrocytic 4 gene DOID:9269 maple syrup urine disease ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1312271 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1312271 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant PMID:25741868
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0110714 congenital stationary night blindness 1G ISO RGD:1312271 D RGD:7240710 20170405 OMIM
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0110714 congenital stationary night blindness 1G ISO RGD:1312271 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1G | ClinVar Annotator: match by term: GNAT1-related condition PMID:11095744|PMID:17576681|PMID:22190596|PMID:25741868|PMID:26472407|PMID:27624628|PMID:28492532|PMID:31736247|PMID:9536098
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0110715 congenital stationary night blindness autosomal dominant 3 ISO RGD:1312271 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0110715 congenital stationary night blindness autosomal dominant 3 ISO RGD:1312271 D RGD:7240710 20130221 OMIM
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0110715 congenital stationary night blindness autosomal dominant 3 ISO RGD:1312271 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 3 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, NOUGARET TYPE PMID:11095744|PMID:17584859|PMID:25741868|PMID:28492532|PMID:31736247|PMID:8673138
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0110867 congenital stationary night blindness 1C ISO RGD:1312271 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1C PMID:25741868
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1312271 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709|PMID:34906470
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:630 genetic disease ISO RGD:1312271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:8499 night blindness ISO RGD:1312271 D RGD:1599006|PMID:8673138 20070111 RGD
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:8501 fundus dystrophy ISO RGD:1312271 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:33946315|PMID:34064|PMID:34064005
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1312271 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:9005643 Experimental Diabetes Mellitus IEP D RGD:1600001|PMID:15939031 20081121 RGD protein:decreased expression:retina
1304683 Gnat1 G protein subunit alpha transducin 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312271 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532
1304684 Poglut2 protein O-glucosyltransferase 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1312273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532
1304684 Poglut2 protein O-glucosyltransferase 2 gene DOID:14701 propionic acidemia ISO RGD:1312273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532
1304684 Poglut2 protein O-glucosyltransferase 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312273 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835
1304684 Poglut2 protein O-glucosyltransferase 2 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1312273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532
1304685 Klhl8 kelch-like family member 8 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1312275 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
1304685 Klhl8 kelch-like family member 8 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1312275 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868
1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1601944 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532
1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:0081334 Nestor-Guillermo progeria syndrome ISO RGD:1601944 D RGD:8554872 20170111 ClinVar ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome
1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:1059 intellectual disability ISO RGD:1601944 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:1909 melanoma ISO RGD:1601944 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22535842
1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1601944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268
1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:2746 glycogen storage disease V ISO RGD:1601944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268
1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1601944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532
1304686 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1601944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532
1304687 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1602194 D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868
1304687 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:0081232 autosomal recessive intellectual developmental disorder 71 ISO RGD:1602194 D RGD:7240710 20190911 OMIM
1304687 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:0081232 autosomal recessive intellectual developmental disorder 71 ISO RGD:1602194 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: ALKBH8-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 71 PMID:25741868|PMID:28492532|PMID:31079898|PMID:33544954
1304687 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:1059 intellectual disability ISO RGD:1602194 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304687 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:12704 ataxia telangiectasia ISO RGD:1602194 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532
1304687 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602194 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057
1304687 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:1602194 D RGD:11554173 20180313 CTD CTD Direct Evidence: marker/mechanism PMID:27811057
1304688 Slc49a3 solute carrier family 49 member 3 gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1604571 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40
1304688 Slc49a3 solute carrier family 49 member 3 gene DOID:1856 cherubism ISO RGD:1604571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532
1304688 Slc49a3 solute carrier family 49 member 3 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1604571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002
1304689 Tubgcp5 tubulin gamma complex component 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1312280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21187176|PMID:21844811|PMID:23044707|PMID:23495136|PMID:25255310|PMID:25741868|PMID:27569545
1304689 Tubgcp5 tubulin gamma complex component 5 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1312280 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868|PMID:31690835|PMID:36901699
1304689 Tubgcp5 tubulin gamma complex component 5 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1312280 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 PMID:17268193|PMID:23032108|PMID:25689425|PMID:28492532
1304689 Tubgcp5 tubulin gamma complex component 5 gene DOID:1059 intellectual disability ISO RGD:1312280 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304689 Tubgcp5 tubulin gamma complex component 5 gene DOID:10907 microcephaly ISO RGD:1312280 D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868
1304689 Tubgcp5 tubulin gamma complex component 5 gene DOID:12849 autistic disorder ISO RGD:1312280 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835
1304689 Tubgcp5 tubulin gamma complex component 5 gene DOID:1932 Angelman syndrome ISO RGD:1312280 D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Angelman syndrome
1304689 Tubgcp5 tubulin gamma complex component 5 gene DOID:5419 schizophrenia ISO RGD:1312280 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1304689 Tubgcp5 tubulin gamma complex component 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312280 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder
1304690 Eml4 EMAP like 4 gene DOID:3883 Lynch syndrome ISO RGD:1351948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532
1304690 Eml4 EMAP like 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1351948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:17625570|PMID:21757253|PMID:21767331|PMID:22568572|PMID:22617245|PMID:22986231
1304690 Eml4 EMAP like 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1351948 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:22980554|PMID:22999080
1304690 Eml4 EMAP like 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22986231|PMID:22999080
1304690 Eml4 EMAP like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351948 D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304690 Eml4 EMAP like 4 gene DOID:9007502 Brain Neoplasms ISO RGD:1351948 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22986231
1304694 Kiaa0930 KIAA0930 homolog gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1312287 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome
1304694 Kiaa0930 KIAA0930 homolog gene DOID:0080600 COVID-19 ISO RGD:1312287 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1304694 Kiaa0930 KIAA0930 homolog gene DOID:1059 intellectual disability ISO RGD:1312287 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304694 Kiaa0930 KIAA0930 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312287 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1312289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:0080001 bone disease ISO RGD:1312289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:22228435
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 ISO RGD:1312289 D RGD:11553863|PMID:18513683 20161014 RGD DNA:deletion:cds:c.483_491del9 (human)
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 ISO RGD:1312289 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 ISO RGD:1312289 D RGD:7240710 20130221 OMIM
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 ISO RGD:1312289 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like PMID:17576681|PMID:18513683|PMID:18985159|PMID:24033266|PMID:25007800|PMID:25741868|PMID:28492532|PMID:32295219|PMID:9536098
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:1059 intellectual disability ISO RGD:1312289 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:11830 myopia ISO RGD:1312289 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312289 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19574547|PMID:28492532|PMID:30924982
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1312289 D RGD:11553861|PMID:18985159 20161014 RGD DNA:missense mutation:cds:p.G74D (human)
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1312289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18985159
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1312289 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1551989 D RGD:11553861|PMID:18985159 20161014 RGD
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:3144 cutis laxa ISO RGD:1312289 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868|PMID:28492532
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:419 scleroderma ISO RGD:1312289 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Scleroderma PMID:25741868|PMID:28492532
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:4667 kyphosis ISO RGD:1312289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18985159
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:630 genetic disease ISO RGD:1312289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:65 connective tissue disease ISO RGD:1312289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18985159|PMID:22228435
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:65 connective tissue disease ISO RGD:1312289 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:28492532
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:9000793 Fine-Lubinsky Syndrome ISO RGD:1312289 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Fine-Lubinsky syndrome PMID:25741868
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:9001285 Alcoholic Liver Diseases IEP D RGD:11553884|PMID:25767260 20161017 RGD protein:increased expression:liver, endoplasmic reticulum (rat)
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:9003921 Zinc Deficiency IEP D RGD:11553849|PMID:20859692 20161128 RGD mRNA:increased expression:lung, kidney (rat)
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:9009007 Tooth Abnormalities ISO RGD:1312289 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:18985159|PMID:22228435
1304695 Slc39a13 solute carrier family 39 member 13 gene DOID:988 mitral valve prolapse ISO RGD:1312289 D RGD:8554872 20180109 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:25741868|PMID:28492532
1304696 Txndc15 thioredoxin domain containing 15 gene DOID:0050778 Meckel syndrome ISO RGD:1312290 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:27894351|PMID:29209597|PMID:31411728
1304696 Txndc15 thioredoxin domain containing 15 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1304696 Txndc15 thioredoxin domain containing 15 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1312290 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive PMID:25741868
1304696 Txndc15 thioredoxin domain containing 15 gene DOID:630 genetic disease ISO RGD:1312290 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
1304696 Txndc15 thioredoxin domain containing 15 gene DOID:9001990 Meckel Syndrome 14 ISO RGD:1312290 D RGD:7240710 20220518 OMIM
1304696 Txndc15 thioredoxin domain containing 15 gene DOID:9001990 Meckel Syndrome 14 ISO RGD:1312290 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Meckel syndrome 14 | ClinVar Annotator: match by term: TXNDC15-related condition PMID:25741868|PMID:27894351|PMID:28492532|PMID:31411728
1304696 Txndc15 thioredoxin domain containing 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312290 D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304696 Txndc15 thioredoxin domain containing 15 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1304697 Actl7a actin-like 7a gene DOID:0070585 spermatogenic failure 86 ISO RGD:1312292 D RGD:7240710 20230906 OMIM
1304697 Actl7a actin-like 7a gene DOID:0070585 spermatogenic failure 86 ISO RGD:1312292 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 86 PMID:25741868|PMID:32923619|PMID:34727571|PMID:36593593|PMID:37004249
1304697 Actl7a actin-like 7a gene DOID:12336 male infertility ISO RGD:1312292 D RGD:13831339|PMID:26957350 20181227 RGD
1304697 Actl7a actin-like 7a gene DOID:4006 bladder urothelial carcinoma ISO RGD:1312292 D RGD:13831338|PMID:29058301 20181227 RGD
1304698 Srprb SRP receptor subunit beta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1312294 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868
1304699 Naxe NAD(P)HX epimerase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577
1304699 Naxe NAD(P)HX epimerase gene DOID:0111940 immunodeficiency 42 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532
1304699 Naxe NAD(P)HX epimerase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532
1304699 Naxe NAD(P)HX epimerase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532
1304699 Naxe NAD(P)HX epimerase gene DOID:1540 parathyroid carcinoma ISO RGD:1312295 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1304699 Naxe NAD(P)HX epimerase gene DOID:5812 MHC class II deficiency ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532
1304699 Naxe NAD(P)HX epimerase gene DOID:630 genetic disease ISO RGD:1312295 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1304699 Naxe NAD(P)HX epimerase gene DOID:9006901 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy ISO RGD:1312295 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy PMID:25741868|PMID:27122014|PMID:27290639|PMID:27616477|PMID:28492532|PMID:33798445
1304699 Naxe NAD(P)HX epimerase gene DOID:9008024 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 ISO RGD:1312295 D RGD:7240710 20190315 OMIM
1304699 Naxe NAD(P)HX epimerase gene DOID:9008024 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | ClinVar Annotator: match by term: NAXE-related condition PMID:25741868|PMID:27290639|PMID:27616477|PMID:28492532|PMID:33798445
1304699 Naxe NAD(P)HX epimerase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312295 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1304700 Ndst2 N-deacetylase and N-sulfotransferase 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1312297 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868|PMID:26893459
1304700 Ndst2 N-deacetylase and N-sulfotransferase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312297 D RGD:11554173 20180515 CTD CTD Direct Evidence: marker/mechanism PMID:29610475
1304701 Prmt6 protein arginine methyltransferase 6 gene DOID:12849 autistic disorder ISO RGD:1312299 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
1304701 Prmt6 protein arginine methyltransferase 6 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1312299 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:27506785
1304702 Colgalt2 collagen beta(1-O)galactosyltransferase 2 gene DOID:0080600 COVID-19 ISO RGD:1602008 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1304702 Colgalt2 collagen beta(1-O)galactosyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602008 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1304702 Colgalt2 collagen beta(1-O)galactosyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602008 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1304703 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:0080600 COVID-19 ISO RGD:1312303 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1304703 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:1520 colon carcinoma ISO RGD:1312303 D RGD:2317311|PMID:11104810 20100326 RGD
1304703 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:5419 schizophrenia ISO RGD:1312303 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1304703 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:6785 desmoplastic small round cell tumor ISO RGD:1312303 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Desmoplastic small round cell tumor PMID:26822237
1304703 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:9538 multiple myeloma ISO RGD:1312303 D RGD:2317306|PMID:15692072 20100326 RGD
1304706 Tmem147 transmembrane protein 147 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1607077 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532
1304706 Tmem147 transmembrane protein 147 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1607077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532
1304706 Tmem147 transmembrane protein 147 gene DOID:1059 intellectual disability ISO RGD:1607077 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:36044892
1304706 Tmem147 transmembrane protein 147 gene DOID:543 dystonia ISO RGD:1607077 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362
1304706 Tmem147 transmembrane protein 147 gene DOID:630 genetic disease ISO RGD:1607077 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:36044892
1304706 Tmem147 transmembrane protein 147 gene DOID:9007224 Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly ISO RGD:1607077 D RGD:7240710 20221102 OMIM
1304706 Tmem147 transmembrane protein 147 gene DOID:9007224 Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly ISO RGD:1607077 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | ClinVar Annotator: match by term: TMEM147-related condition PMID:25741868|PMID:28492532|PMID:36044892
1304707 Lrfn1 leucine rich repeat and fibronectin type III domain containing 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1312309 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532
1304707 Lrfn1 leucine rich repeat and fibronectin type III domain containing 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312309 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532
1304708 Dapk2 death-associated protein kinase 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1312311 D RGD:11554173 20190409 CTD CTD Direct Evidence: marker/mechanism PMID:28978663
1304708 Dapk2 death-associated protein kinase 2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312311 D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055
1304708 Dapk2 death-associated protein kinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1312311 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
1304708 Dapk2 death-associated protein kinase 2 gene DOID:9005369 Hepatomegaly ISO RGD:1312311 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:28108177
1304708 Dapk2 death-associated protein kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1312311 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
1304709 Car8 carbonic anhydrase 8 gene DOID:0050834 CHARGE syndrome ISO RGD:1312313 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE syndrome PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532
1304709 Car8 carbonic anhydrase 8 gene DOID:0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome ISS RGD:1312314 D RGD:13592920 20180518 MouseDO OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268
1304709 Car8 carbonic anhydrase 8 gene DOID:0070558 autosomal recessive spinocerebellar ataxia 34 ISO RGD:1312313 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304709 Car8 carbonic anhydrase 8 gene DOID:0070558 autosomal recessive spinocerebellar ataxia 34 ISO RGD:1312313 D RGD:7240710 20130221 OMIM
1304709 Car8 carbonic anhydrase 8 gene DOID:0070558 autosomal recessive spinocerebellar ataxia 34 ISO RGD:1312313 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34 PMID:19461874|PMID:21812104|PMID:21937992|PMID:25741868|PMID:31693170|PMID:32808436
1304709 Car8 carbonic anhydrase 8 gene DOID:1059 intellectual disability ISO RGD:1312313 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21937992
1304709 Car8 carbonic anhydrase 8 gene DOID:630 genetic disease ISO RGD:1312313 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532
1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868
1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417
1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:10908 hydrocephalus ISO RGD:1312315 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Severe hydrocephalus PMID:25741868
1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:11054 urinary bladder cancer ISO RGD:1312315 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:24121791
1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:630 genetic disease ISO RGD:1312315 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:9003728 Shashi-Pena Syndrome ISO RGD:1312315 D RGD:7240710 20190315 OMIM
1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:9003728 Shashi-Pena Syndrome ISO RGD:1312315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ASXL2-related condition | ClinVar Annotator: match by term: Shashi-Pena syndrome PMID:25741868|PMID:27693232|PMID:28492532
1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312315 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:9008582 Developmental Disease ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868
1304710 Asxl2 ASXL transcriptional regulator 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1312315 D RGD:11554173 20161213 CTD CTD Direct Evidence: marker/mechanism PMID:27798625
1304711 Ints10 integrator complex subunit 10 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1602701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532
1304714 Eral1 Era-like 12S mitochondrial rRNA chaperone 1 gene DOID:0050857 Perrault syndrome ISO RGD:1312320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:28449065
1304714 Eral1 Era-like 12S mitochondrial rRNA chaperone 1 gene DOID:0080256 Perrault syndrome 6 ISO RGD:1312320 D RGD:7240710 20190315 OMIM
1304714 Eral1 Era-like 12S mitochondrial rRNA chaperone 1 gene DOID:0080256 Perrault syndrome 6 ISO RGD:1312320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perrault syndrome 6 PMID:25741868|PMID:28449065
1304714 Eral1 Era-like 12S mitochondrial rRNA chaperone 1 gene DOID:0080600 COVID-19 ISO RGD:1312320 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
1304714 Eral1 Era-like 12S mitochondrial rRNA chaperone 1 gene DOID:9004538 Hearing Loss ISO RGD:1312320 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment
1304715 Rcsd1 RCSD domain containing 1 gene DOID:0111942 immunodeficiency 25 ISO RGD:1603598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532
1304715 Rcsd1 RCSD domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603598 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1304715 Rcsd1 RCSD domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603598 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
1304715 Rcsd1 RCSD domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603598 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1304716 Cwf19l1 CWF19 like cell cycle control factor 1 gene DOID:0080064 autosomal recessive spinocerebellar ataxia 17 ISO RGD:1312323 D RGD:7240710 20150218 OMIM
1304716 Cwf19l1 CWF19 like cell cycle control factor 1 gene DOID:0080064 autosomal recessive spinocerebellar ataxia 17 ISO RGD:1312323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 | ClinVar Annotator: match by term: CWF19L1-related condition PMID:15981765|PMID:16199547|PMID:18414213|PMID:25361784|PMID:25741868|PMID:26197978|PMID:27016154|PMID:28492532
1304716 Cwf19l1 CWF19 like cell cycle control factor 1 gene DOID:1059 intellectual disability ISO RGD:1312323 D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849
1304716 Cwf19l1 CWF19 like cell cycle control factor 1 gene DOID:630 genetic disease ISO RGD:1312323 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868
1304716 Cwf19l1 CWF19 like cell cycle control factor 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1312323 D RGD:11554173 20171031 CTD CTD Direct Evidence: marker/mechanism
1304717 Cxcl17 C-X-C motif chemokine ligand 17 gene DOID:0080600 COVID-19 ISO RGD:1602051 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672
1304717 Cxcl17 C-X-C motif chemokine ligand 17 gene DOID:5419 schizophrenia ISO RGD:1602051 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1304719 Coa8 cytochrome c oxidase assembly factor 8 gene DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ISO RGD:1312327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 PMID:25175347|PMID:25741868|PMID:28492532
1304719 Coa8 cytochrome c oxidase assembly factor 8 gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:1312327 D RGD:7240710 20201111 OMIM
1304719 Coa8 cytochrome c oxidase assembly factor 8 gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:1312327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COA8-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:28492532|PMID:29577824|PMID:30724636
1304719 Coa8 cytochrome c oxidase assembly factor 8 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532
1304719 Coa8 cytochrome c oxidase assembly factor 8 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1312327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COX deficiency PMID:25175347|PMID:25741868|PMID:28492532
1304719 Coa8 cytochrome c oxidase assembly factor 8 gene DOID:630 genetic disease ISO RGD:1312327 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25175347|PMID:25741868|PMID:28492532
1304719 Coa8 cytochrome c oxidase assembly factor 8 gene DOID:9001392 Herpes Simplex Encephalitis 3 ISO RGD:1312327 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 PMID:28492532
1304722 Cadm4 cell adhesion molecule 4 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1312331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532
1304722 Cadm4 cell adhesion molecule 4 gene DOID:5419 schizophrenia ISO RGD:1312331 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
1304723 Them4 thioesterase superfamily member 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532
1304723 Them4 thioesterase superfamily member 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532
1304723 Them4 thioesterase superfamily member 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532
1304723 Them4 thioesterase superfamily member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1603281 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
1304723 Them4 thioesterase superfamily member 4 gene DOID:5812 MHC class II deficiency ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532
1304723 Them4 thioesterase superfamily member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1603281 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:23392203
1304723 Them4 thioesterase superfamily member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603281 D RGD:8554872 20210413 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
1304724 Sox21 SRY-box transcription factor 21 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1312334 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992
1304724 Sox21 SRY-box transcription factor 21 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312334 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835
1304726 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0050567 orofacial cleft ISO RGD:1313743 D RGD:8554872 20210817 ClinVar ClinVar Annotator: match by term: Facial cleft PMID:25741868
1304726 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0070618 rhabdoid tumor predisposition syndrome 1 ISO RGD:1313743 D RGD:8554872 20241105 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 PMID:25741868|PMID:28492532
1304726 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1313743 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23685749
1304726 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0112368 Coffin-Siris syndrome 5 ISO RGD:1313743 D RGD:7240710 20250122 OMIM
1304726 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:0112368 Coffin-Siris syndrome 5 ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 5 PMID:22426308|PMID:23906836|PMID:25741868|PMID:28492532
1304726 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:1059 intellectual disability ISO RGD:1313743 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868
1304726 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1313743 D RGD:11554173 20221108 CTD CTD Direct Evidence: marker/mechanism PMID:22426308
1304726 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:3565 meningioma ISO RGD:1313743 D RGD:11554173 20220809 CTD CTD Direct Evidence: marker/mechanism PMID:35681054
1304726 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:3565 meningioma ISO RGD:1313743 D RGD:151708704|PMID:29409008 20220414 RGD DNA:multiple:multiple (human)
1304726 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:4586 familial meningioma ISO RGD:1313743 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:23377182
1304726 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:4586 familial meningioma ISO RGD:1313743 D RGD:7240710 20250122 OMIM
1304726 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:4586 familial meningioma ISO RGD:1313743 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to PMID:16199547|PMID:17576681|PMID:22426308|PMID:23377182|PMID:23556151|PMID:23929686|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27264197|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:31675646|PMID:33020650|PMID:37164167|PMID:9536098
1304726 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:630 genetic disease ISO RGD:1313743 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
1304726 Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:16199547|PMID:17576681|PMID:23377182|PMID:25143307|PMID:25168959|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098
1304728 4933427D14Rikl RIKEN cDNA 4933427D14 gene like gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605106 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532|PMID:29138412|PMID:31816441|PMID:34529350
1304728 4933427D14Rikl RIKEN cDNA 4933427D14 gene like gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1605106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532
1304728 4933427D14Rikl RIKEN cDNA 4933427D14 gene like gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1605106 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532
1304728 4933427D14Rikl RIKEN cDNA 4933427D14 gene like gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1605106 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532
1304728 4933427D14Rikl RIKEN cDNA 4933427D14 gene like gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1605106 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532
1304728 4933427D14Rikl RIKEN cDNA 4933427D14 gene like gene DOID:630 genetic disease ISO RGD:1605106 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29138412
1304728 4933427D14Rikl RIKEN cDNA 4933427D14 gene like gene DOID:9005357 Orofaciodigital Syndrome XV ISO RGD:1605106 D RGD:7240710 20190315 OMIM
1304728 4933427D14Rikl RIKEN cDNA 4933427D14 gene like gene DOID:9005357 Orofaciodigital Syndrome XV ISO RGD:1605106 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome XV PMID:17576681|PMID:25741868|PMID:26643951|PMID:28492532|PMID:29138412|PMID:34523780|PMID:34529350|PMID:9536098
1304728 4933427D14Rikl RIKEN cDNA 4933427D14 gene like gene DOID:9005615 Joubert Syndrome 38 ISO RGD:1605106 D RGD:7240710 20210825 OMIM
1304728 4933427D14Rikl RIKEN cDNA 4933427D14 gene like gene DOID:9005615 Joubert Syndrome 38 ISO RGD:1605106 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Joubert syndrome 38 PMID:17576681|PMID:25741868|PMID:26643951|PMID:28220259|PMID:28492532|PMID:29138412|PMID:34523780|PMID:9536098
1304728 4933427D14Rikl RIKEN cDNA 4933427D14 gene like gene DOID:9008070 Short-Rib Thoracic Dysplasia 21 without Polydactyly ISO RGD:1605106 D RGD:7240710 20210825 OMIM
1304728 4933427D14Rikl RIKEN cDNA 4933427D14 gene like gene DOID:9008070 Short-Rib Thoracic Dysplasia 21 without Polydactyly ISO RGD:1605106 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 21 without polydactyly PMID:25741868|PMID:28492532|PMID:29138412|PMID:31816441|PMID:34016807|PMID:34523780|PMID:34529350
1304729 Sfn stratifin gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1312341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532
1304729 Sfn stratifin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1312341 D RGD:2299928|PMID:17645415 20080821 RGD protein:increased expression:urothelium (human)
1304729 Sfn stratifin gene DOID:1749 squamous cell carcinoma ISO RGD:1312341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141
1304729 Sfn stratifin gene DOID:2101 vulva squamous cell carcinoma ISO RGD:1312341 D RGD:2299936|PMID:11896620 20080821 RGD DNA, mRNA:hypermethylation, decreased expression:vulva
1304729 Sfn stratifin gene DOID:2394 ovarian cancer ISO RGD:1312341 D RGD:2299930|PMID:16773180 20080821 RGD mRNA:increased expression:ovary
1304729 Sfn stratifin gene DOID:2394 ovarian cancer disease_progression ISO RGD:1312341 D RGD:2299933|PMID:15102672 20080821 RGD
1304729 Sfn stratifin gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1312341 D RGD:2299929|PMID:16964403 20080821 RGD DNA:hypermethylation:promoter
1304729 Sfn stratifin gene DOID:2871 endometrial carcinoma ISO RGD:1312341 D RGD:2299931|PMID:16271083 20080821 RGD
1304729 Sfn stratifin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312341 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:21517111
1304729 Sfn stratifin gene DOID:3910 lung adenocarcinoma ISO RGD:1312341 D RGD:11554173 20200407 CTD CTD Direct Evidence: marker/mechanism PMID:19381893
1304729 Sfn stratifin gene DOID:684 hepatocellular carcinoma ISO RGD:1312341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:21472284
1304729 Sfn stratifin gene DOID:8719 in situ carcinoma ISO RGD:1312341 D RGD:2299936|PMID:11896620 20080821 RGD mRNA:decreased expression:vulva
1304729 Sfn stratifin gene DOID:9000058 Keloid ISO RGD:1312341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20128793
1304729 Sfn stratifin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1312341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:19381893
1304729 Sfn stratifin gene DOID:9000117 Esophageal Neoplasms ISO RGD:1312341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15986332
1304729 Sfn stratifin gene DOID:9007364 Mouth Neoplasms ISO RGD:1312341 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15274141
1304733 Ep400 E1A binding protein p400 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312347 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304733 Ep400 E1A binding protein p400 gene DOID:9256 colorectal cancer ISO RGD:1312347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532
1304734 Elmo3 engulfment and cell motility 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1312348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532
1304734 Elmo3 engulfment and cell motility 3 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1312348 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868
1304735 Mov10l1 Mov10 like RNA helicase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310
1304735 Mov10l1 Mov10 like RNA helicase 1 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1345883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835
1304735 Mov10l1 Mov10 like RNA helicase 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1345883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:35476666
1304735 Mov10l1 Mov10 like RNA helicase 1 gene DOID:0070572 spermatogenic failure 73 ISO RGD:1345883 D RGD:7240710 20220518 OMIM
1304735 Mov10l1 Mov10 like RNA helicase 1 gene DOID:0070572 spermatogenic failure 73 ISO RGD:1345883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 73 PMID:25741868|PMID:35476666
1304735 Mov10l1 Mov10 like RNA helicase 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1345883 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome
1304735 Mov10l1 Mov10 like RNA helicase 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1345883 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313
1304735 Mov10l1 Mov10 like RNA helicase 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1345883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139
1304735 Mov10l1 Mov10 like RNA helicase 1 gene DOID:1059 intellectual disability ISO RGD:1345883 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304735 Mov10l1 Mov10 like RNA helicase 1 gene DOID:12336 male infertility ISO RGD:1345883 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Male infertility
1304735 Mov10l1 Mov10 like RNA helicase 1 gene DOID:14227 azoospermia ISO RGD:1345883 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Azoospermia
1304736 Fndc3a fibronectin type III domain containing 3a gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354235 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
1304736 Fndc3a fibronectin type III domain containing 3a gene DOID:1059 intellectual disability ISO RGD:1354235 D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304737 Zfr2 zinc finger RNA binding protein 2 gene DOID:0080690 RASopathy ISO RGD:1312353 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: RASopathy PMID:23379592|PMID:27257017|PMID:27751966|PMID:28492532
1304737 Zfr2 zinc finger RNA binding protein 2 gene DOID:13938 amenorrhea ISO RGD:1312353 D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106
1304737 Zfr2 zinc finger RNA binding protein 2 gene DOID:9970 obesity ISO RGD:1312353 D RGD:11554173 20180220 CTD CTD Direct Evidence: marker/mechanism PMID:29273807
1304738 Ube4b ubiquitination factor E4B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532
1304738 Ube4b ubiquitination factor E4B gene DOID:0060224 atrial fibrillation ISO RGD:1312355 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015
1304738 Ube4b ubiquitination factor E4B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312355 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome
1304738 Ube4b ubiquitination factor E4B gene DOID:0081292 traumatic brain injury ISO RGD:1312355 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27822499
1304738 Ube4b ubiquitination factor E4B gene DOID:0111936 immunodeficiency 14 ISO RGD:1312355 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532
1304738 Ube4b ubiquitination factor E4B gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1312355 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27822499
1304738 Ube4b ubiquitination factor E4B gene DOID:9002498 Wallerian Degeneration ISO RGD:1312355 D RGD:11554173 20180313 CTD CTD Direct Evidence: therapeutic PMID:27822499
1304738 Ube4b ubiquitination factor E4B gene DOID:9008582 Developmental Disease ISO RGD:1312355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868
1304739 Exosc3 exosome component 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532
1304739 Exosc3 exosome component 3 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1312357 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:18414213|PMID:22544365|PMID:23284067|PMID:23975261|PMID:24033266|PMID:24524299|PMID:25533962|PMID:25741868|PMID:25809939|PMID:28492532|PMID:31980526|PMID:33462000|PMID:36004024
1304739 Exosc3 exosome component 3 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1312357 D RGD:7240710 20140911 OMIM
1304739 Exosc3 exosome component 3 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1312357 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B PMID:16199547|PMID:18414213|PMID:22544365|PMID:23284067|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24033266|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:25809939|PMID:27146152|PMID:27777260|PMID:28053271|PMID:28492532|PMID:28687512|PMID:29093021|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30025162|PMID:30221345|PMID:30986545|PMID:31692161|PMID:31980526|PMID:33462000|PMID:36004024
1304739 Exosc3 exosome component 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1312357 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532
1304739 Exosc3 exosome component 3 gene DOID:0081337 congenital myopathy ISO RGD:1312357 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:22544365|PMID:23883322|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345
1304739 Exosc3 exosome component 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312357 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:22544365|PMID:23883322|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30025162|PMID:30221345
1304739 Exosc3 exosome component 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532
1304739 Exosc3 exosome component 3 gene DOID:0112322 pontocerebellar hypoplasia type 1 ISO RGD:1312357 D RGD:11554173 20190723 CTD CTD Direct Evidence: marker/mechanism PMID:22544365
1304739 Exosc3 exosome component 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1312357 D RGD:151893464|PMID:29069277 20220420 RGD mRNA:altered expression:stomach, tumor (human)
1304739 Exosc3 exosome component 3 gene DOID:630 genetic disease ISO RGD:1312357 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545
1304739 Exosc3 exosome component 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1312357 D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545
1304739 Exosc3 exosome component 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1312357 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545
1304739 Exosc3 exosome component 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312357 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532
1304739 Exosc3 exosome component 3 gene DOID:9870 galactosemia ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532
1304740 Tspan9 tetraspanin 9 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1602896 D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098
1304743 Ust uronyl-2-sulfotransferase gene DOID:0060224 atrial fibrillation ISO RGD:1312363 D RGD:11554173 20181016 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737
1304743 Ust uronyl-2-sulfotransferase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1312363 D RGD:401854249|PMID:35642741 20231106 RGD DNA:SNP:CDS:mutiple (human)
1304743 Ust uronyl-2-sulfotransferase gene DOID:2513 basal cell carcinoma ISO RGD:1312363 D RGD:11554173 20240604 CTD CTD Direct Evidence: marker/mechanism PMID:36428691
1304743 Ust uronyl-2-sulfotransferase gene DOID:289 endometriosis ISO RGD:1312363 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:20864642
1304744 Stx11 syntaxin 11 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1312365 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304744 Stx11 syntaxin 11 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1312365 D RGD:7240710 20150527 OMIM
1304744 Stx11 syntaxin 11 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1312365 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 | ClinVar Annotator: match by term: STX11-related condition PMID:15703195|PMID:16582076|PMID:17525286|PMID:19967551|PMID:20486178|PMID:24033266|PMID:24459464|PMID:24524345|PMID:24916509|PMID:25741868|PMID:26004995|PMID:26176172|PMID:28492532|PMID:28750028|PMID:29113160|PMID:29665027|PMID:30899265|PMID:36706356|PMID:39117809
1304744 Stx11 syntaxin 11 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISS RGD:1312366 D RGD:13592920 20230718 MouseDO OMIM:603552
1304744 Stx11 syntaxin 11 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1312365 D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:15703195
1304744 Stx11 syntaxin 11 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1312365 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24524345|PMID:25741868|PMID:28492532
1304744 Stx11 syntaxin 11 gene DOID:630 genetic disease ISO RGD:1312365 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
1304744 Stx11 syntaxin 11 gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:1312365 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis PMID:20486178|PMID:24033266|PMID:24459464|PMID:25741868|PMID:26004995|PMID:28492532|PMID:36706356|PMID:39117809
1304745 Ubtfl1 upstream binding transcription factor like 1 gene DOID:1059 intellectual disability ISO RGD:1312367 D RGD:8554872 20230905 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304745 Ubtfl1 upstream binding transcription factor like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312367 D RGD:8554872 20230905 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304747 Adcy9 adenylate cyclase 9 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532
1304747 Adcy9 adenylate cyclase 9 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1312370 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532
1304747 Adcy9 adenylate cyclase 9 gene DOID:1826 epilepsy ISO RGD:1312370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532
1304747 Adcy9 adenylate cyclase 9 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312370 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532
1304747 Adcy9 adenylate cyclase 9 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1312370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532
1304747 Adcy9 adenylate cyclase 9 gene DOID:3324 mood disorder no_association ISO RGD:1312370 D RGD:1358365|PMID:11840511 19990101 RGD DNA:polymorphisms:repeat,cds:
1304747 Adcy9 adenylate cyclase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312370 D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
1304748 Ggact gamma-glutamylamine cyclotransferase gene DOID:0110878 holoprosencephaly 5 ISO RGD:2299985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992
1304748 Ggact gamma-glutamylamine cyclotransferase gene DOID:14701 propionic acidemia ISO RGD:2299985 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:19157943|PMID:22033733|PMID:25741868|PMID:28492532
1304748 Ggact gamma-glutamylamine cyclotransferase gene DOID:4621 holoprosencephaly ISO RGD:2299985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly
1304748 Ggact gamma-glutamylamine cyclotransferase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:2299985 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835
1304749 Lrp6 LDL receptor related protein 6 gene DOID:0050567 orofacial cleft ISO RGD:1312373 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:22813217|PMID:23806086|PMID:26963285
1304749 Lrp6 LDL receptor related protein 6 gene DOID:0050591 tooth agenesis ISO RGD:1312373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis PMID:22813217|PMID:23033978|PMID:25741868|PMID:26963285|PMID:28492532
1304749 Lrp6 LDL receptor related protein 6 gene DOID:0050770 polycystic liver disease ISO RGD:1312373 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:26901136|PMID:28492532
1304749 Lrp6 LDL receptor related protein 6 gene DOID:0060980 polycystic liver disease 1 ISO RGD:1312373 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:25741868|PMID:26901136|PMID:28492532
1304749 Lrp6 LDL receptor related protein 6 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1312373 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532
1304749 Lrp6 LDL receptor related protein 6 gene DOID:0080074 neural tube defect ISS RGD:1312374 D RGD:13592920 20180518 MouseDO OMIM:182940 | OMIM:301410 | OMIM:601634
1304749 Lrp6 LDL receptor related protein 6 gene DOID:10126 keratoconus ISO RGD:1312373 D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Keratoconus
1304749 Lrp6 LDL receptor related protein 6 gene DOID:10283 prostate cancer ISO RGD:1312373 D RGD:8554872 20171114 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
1304749 Lrp6 LDL receptor related protein 6 gene DOID:3393 coronary artery disease ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:28492532
1304749 Lrp6 LDL receptor related protein 6 gene DOID:630 genetic disease ISO RGD:1312373 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26387593|PMID:28492532|PMID:33391533|PMID:34593752
1304749 Lrp6 LDL receptor related protein 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1312373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868|PMID:28492532
1304749 Lrp6 LDL receptor related protein 6 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1312373 D RGD:2298724|PMID:12660824 20080718 RGD
1304749 Lrp6 LDL receptor related protein 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312374 D RGD:4110127|PMID:18006602 20100817 RGD
1304749 Lrp6 LDL receptor related protein 6 gene DOID:9002374 Coronary Artery Disease, Autosomal Dominant 2 ISO RGD:1312373 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304749 Lrp6 LDL receptor related protein 6 gene DOID:9002374 Coronary Artery Disease, Autosomal Dominant 2 ISO RGD:1312373 D RGD:7240710 20130221 OMIM
1304749 Lrp6 LDL receptor related protein 6 gene DOID:9002374 Coronary Artery Disease, Autosomal Dominant 2 ISO RGD:1312373 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2 PMID:17332414|PMID:23703864|PMID:25741868|PMID:27713038|PMID:28492532|PMID:31589614|PMID:33118644
1304749 Lrp6 LDL receptor related protein 6 gene DOID:9006646 Metabolic Syndrome ISO RGD:1312373 D RGD:2298725|PMID:17332414 20080718 RGD DNA:missense mutation:cds
1304749 Lrp6 LDL receptor related protein 6 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1312373 D RGD:11554173 20170725 CTD CTD Direct Evidence: marker/mechanism PMID:24552774
1304749 Lrp6 LDL receptor related protein 6 gene DOID:9007661 Dwarfism ISO RGD:1312373 D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868
1304749 Lrp6 LDL receptor related protein 6 gene DOID:9008283 Selective Tooth Agenesis 7 ISO RGD:1312373 D RGD:7240710 20160120 OMIM
1304749 Lrp6 LDL receptor related protein 6 gene DOID:9008283 Selective Tooth Agenesis 7 ISO RGD:1312373 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: LRP6-related condition | ClinVar Annotator: match by term: Tooth agenesis, selective, 7 PMID:17332414|PMID:22813217|PMID:23033978|PMID:24427284|PMID:25741868|PMID:26387593|PMID:26963285|PMID:28492532|PMID:32147773|PMID:34306029|PMID:34593752|PMID:35928749|PMID:35961235|PMID:36143186
1304749 Lrp6 LDL receptor related protein 6 gene DOID:9452 steatotic liver disease ISS RGD:1312374 D RGD:13592920 20180518 MouseDO OMIM:228100
1304751 Vps50 VPS50 subunit of EARP/GARPII complex gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604352 D RGD:8554872 20170411 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
1304751 Vps50 VPS50 subunit of EARP/GARPII complex gene DOID:9000387 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS ISO RGD:1604352 D RGD:7240710 20220323 OMIM
1304751 Vps50 VPS50 subunit of EARP/GARPII complex gene DOID:9000387 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS ISO RGD:1604352 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis PMID:25741868|PMID:34037727
1304753 Pcdh17 protocadherin 17 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312379 D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
1304754 Hcls1 hematopoietic cell specific Lyn substrate 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1312380 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:12833524
1304754 Hcls1 hematopoietic cell specific Lyn substrate 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1312380 D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868
1304754 Hcls1 hematopoietic cell specific Lyn substrate 1 gene DOID:9270 alkaptonuria ISO RGD:1312380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532
1304755 Phlda2 pleckstrin homology-like domain, family A, member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312382 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532
1304755 Phlda2 pleckstrin homology-like domain, family A, member 2 gene DOID:0080600 COVID-19 ISO RGD:1312382 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422
1304755 Phlda2 pleckstrin homology-like domain, family A, member 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1312382 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417
1304755 Phlda2 pleckstrin homology-like domain, family A, member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312382 D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532
1304755 Phlda2 pleckstrin homology-like domain, family A, member 2 gene DOID:3347 osteosarcoma ISO RGD:1312382 D RGD:11554173 20161020 CTD CTD Direct Evidence: therapeutic PMID:22021909
1304755 Phlda2 pleckstrin homology-like domain, family A, member 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1312382 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:15496427
1304756 Fank1 fibronectin type III and ankyrin repeat domains 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1312384 D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835
1304757 Elac1 elaC ribonuclease Z 1 gene DOID:1059 intellectual disability ISO RGD:1312386 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability
1304758 Tmub2 transmembrane and ubiquitin-like domain containing 2 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1604292 D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532
1304758 Tmub2 transmembrane and ubiquitin-like domain containing 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604292 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859
1304759 Palb2 partner and localizer of BRCA2 gene DOID:0050671 female breast cancer susceptibility ISO RGD:1605949 D RGD:152995259|PMID:30303537 20220609 RGD DNA:missense mutation:cds: (human)
1304759 Palb2 partner and localizer of BRCA2 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1605949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532
1304759 Palb2 partner and localizer of BRCA2 gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:1605949 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula PMID:17200668|PMID:23824750|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26564480|PMID:27878467|PMID:28492532|PMID:30303537|PMID:31586400|PMID:33471991
1304759 Palb2 partner and localizer of BRCA2 gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:1605949 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:25085752|PMID:25741868|PMID:28492532|PMID:33471991
1304759 Palb2 partner and localizer of BRCA2 gene DOID:0080777 lung sarcomatoid carcinoma ISO RGD:1605949 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Lung sarcomatoid carcinoma
1304759 Palb2 partner and localizer of BRCA2 gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:1605949 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25741868
1304759 Palb2 partner and localizer of BRCA2 gene DOID:0111094 Fanconi anemia complementation group N ISO RGD:1605949 D RGD:11554173 20230718 CTD CTD Direct Evidence: marker/mechanism
1304759 Palb2 partner and localizer of BRCA2 gene DOID:0111094 Fanconi anemia complementation group N ISO RGD:1605949 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group N PMID:100849|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27449771|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30521987|PMID:30541756|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31721781|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32012241|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32238468|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396
1304759 Palb2 partner and localizer of BRCA2 gene DOID:0111094 Fanconi anemia complementation group N ISO RGD:1605949 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group N PMID:33309985|PMID:33320972|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34034685|PMID:34113003|PMID:34284872|PMID:34326862|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34608183|PMID:34687117|PMID:34793666|PMID:34846068|PMID:35089076|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35806449|PMID:36175305|PMID:36243179|PMID:36605468|PMID:36988593|PMID:37013556|PMID:37415201|PMID:37628606|PMID:9536098
1304759 Palb2 partner and localizer of BRCA2 gene DOID:0111094 Fanconi anemia complementation group N susceptibility ISO RGD:1605949 D RGD:7240710 20241218 OMIM
1304759 Palb2 partner and localizer of BRCA2 gene DOID:10534 stomach cancer ISO RGD:1605949 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:19264984|PMID:19763884|PMID:20412113|PMID:20852946|PMID:21165770|PMID:21285249|PMID:21618343|PMID:22692731|PMID:23561644|PMID:23935381|PMID:23935836|PMID:24136930|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24763289|PMID:24870022|PMID:25099575|PMID:25186627|PMID:25356972|PMID:25452441|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26720728|PMID:26845104|PMID:27449771|PMID:27553368|PMID:27624329|PMID:27783279|PMID:27798748|PMID:28152038|PMID:28194609|PMID:28413668|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28724667|PMID:28779002|PMID:29093764|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29506128|PMID:29566657|PMID:29752822|PMID:2980694|PMID:29915322|PMID:29945567|PMID:30067863|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30377213|PMID:30720863|PMID:30792206|PMID:30982232|PMID:31089269|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31619740|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31844177|PMID:31871109|PMID:32068069|PMID:32339256|PMID:32427313|PMID:32566746|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33169439|PMID:33471991|PMID:34439348|PMID:36605468|PMID:36988593
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1324 lung cancer ISO RGD:1605949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:26023681|PMID:28492532|PMID:29625052|PMID:29785153|PMID:31159747|PMID:31447099|PMID:31619740
1304759 Palb2 partner and localizer of BRCA2 gene DOID:13636 Fanconi anemia ISO RGD:1605949 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:24136930|PMID:25085752|PMID:25099575|PMID:25741868|PMID:26467025|PMID:26564480|PMID:28492532
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1520 colon carcinoma ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:18053174|PMID:21285249|PMID:21365267|PMID:21618343|PMID:22692731|PMID:23977390|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28944238|PMID:30287823|PMID:30303537|PMID:3040479|PMID:30638972|PMID:31586400|PMID:31636395|PMID:32546565|PMID:33195396|PMID:33471991
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1520 colon carcinoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:18053174|PMID:21285249|PMID:21365267|PMID:21618343|PMID:22692731|PMID:23977390|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28944238|PMID:29522266|PMID:30287823|PMID:30303537|PMID:3040479|PMID:30638972|PMID:31586400|PMID:31636395|PMID:31911633|PMID:32546565|PMID:33195396|PMID:33471991
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1520 colon carcinoma ISO RGD:1605949 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:18053174|PMID:21285249|PMID:21365267|PMID:21618343|PMID:22692731|PMID:23977390|PMID:25085752|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28944238|PMID:29522266|PMID:30287823|PMID:30303537|PMID:3040479|PMID:30638972|PMID:31214711|PMID:31586400|PMID:31636395|PMID:31911633|PMID:32546565|PMID:32885271|PMID:33195396|PMID:33471991|PMID:34326862|PMID:34846068|PMID:35610400
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31159747|PMID:31214711|PMID:31300551|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32068069|PMID:32295079|PMID:32339256|PMID:32566746|PMID:32832836|PMID:32854451|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384|PMID:35806449
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384|PMID:35806449
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33917078|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449|PMID:36988593|PMID:9536098
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:35806449|PMID:36988593|PMID:9536098
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:34439348|PMID:34687117|PMID:35264596|PMID:35451682|PMID:35610400|PMID:35806449
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:36243179|PMID:36988593|PMID:9536098
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:100849|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27907908|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:34439348|PMID:34687117
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:35264596|PMID:35451682|PMID:35610400|PMID:35806449|PMID:36243179|PMID:36605468|PMID:36988593|PMID:9536098
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:34439348|PMID:34687117|PMID:34793666|PMID:35263119|PMID:35264596|PMID:35451682|PMID:35610400|PMID:35806449|PMID:36243179|PMID:36605468|PMID:36988593|PMID:9536098
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:34399810|PMID:34439348|PMID:34687117|PMID:34793666|PMID:35263119|PMID:35264596|PMID:35451682|PMID:35610400|PMID:35806449|PMID:36243179|PMID:36605468|PMID:36988593|PMID:9536098
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:100849|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27907908|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29053726|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31382929|PMID:31422574|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32012241|PMID:32019277|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33139182|PMID:33169439|PMID:33309985
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:34399810|PMID:34439348|PMID:34687117|PMID:34793666|PMID:34846068|PMID:35263119|PMID:35264596|PMID:35451682|PMID:35610400|PMID:35806449|PMID:36243179|PMID:36605468|PMID:36988593|PMID:37628606|PMID:9536098
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:11554173 20161020 CTD CTD Direct Evidence: marker/mechanism PMID:26098869
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27624329|PMID:27783279|PMID:27829436|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:30890586|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31586400|PMID:31636395|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32295079|PMID:32339256|PMID:32566746|PMID:33139182|PMID:33471991
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33139182|PMID:33471991
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31575519|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33139182|PMID:33471991
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:100849|PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:22692731|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:27829436|PMID:27878467|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29335925|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29478780|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30665703|PMID:30720863|PMID:30833416|PMID:30890586|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31757951|PMID:31768816|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32522261|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33674644|PMID:33917078|PMID:33980423|PMID:34113003|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34846068|PMID:35263119|PMID:35264596|PMID:35610400|PMID:36605468|PMID:36988593|PMID:37239058
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 PMID:100849|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22241545|PMID:22692731|PMID:23110154|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27449771|PMID:27553368|PMID:27595995|PMID:27624329|PMID:27829436|PMID:27878467|PMID:28008555|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29335925|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30337689|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30833416|PMID:30890586|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31721781|PMID:31757951|PMID:31768816|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32012241|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32522261|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33674644|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34034685|PMID:34113003|PMID:34284872|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34846068|PMID:35263119|PMID:35264596|PMID:35610400|PMID:36605468|PMID:36988593|PMID:37013556|PMID:37239058
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:100849|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22241545|PMID:22692731|PMID:23110154|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935836|PMID:23977390|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27449771|PMID:27553368|PMID:27595995|PMID:27624329|PMID:27829436|PMID:27878467|PMID:28008555|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29335925|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29485843|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30337689|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30833416|PMID:30890586|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31721781|PMID:31757951|PMID:31768816|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32012241|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33674644|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34034685|PMID:34113003|PMID:34284872|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34846068|PMID:35263119|PMID:35264596|PMID:35610400|PMID:36605468|PMID:36988593|PMID:37013556|PMID:37239058
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:100849|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22241545|PMID:22692731|PMID:23110154|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935836|PMID:23977390|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27449771|PMID:27553368|PMID:27595995|PMID:27624329|PMID:27829436|PMID:27878467|PMID:28008555|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29335925|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30337689|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30833416|PMID:30890586|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31721781|PMID:31757951|PMID:31768816|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32012241|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33674644|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34034685|PMID:34113003|PMID:34284872|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34846068|PMID:35263119|PMID:35264596|PMID:35610400|PMID:36605468|PMID:36988593|PMID:37013556|PMID:37239058
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:100849|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17576681|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22241545|PMID:22692731|PMID:23110154|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934836|PMID:23935836|PMID:23977390|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27449771|PMID:27553368|PMID:27595995|PMID:27624329|PMID:27631815|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28678401|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29335925|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30337689|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30890586|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31312277|PMID:31422574|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31721781|PMID:31757951|PMID:31768816|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32012241|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32238468|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34034685|PMID:34113003|PMID:34284872|PMID:34326862|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34793666|PMID:34846068|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35610400|PMID:35626031|PMID:35676859|PMID:36175305|PMID:36243179|PMID:36605468|PMID:36988593|PMID:37013556|PMID:37239058|PMID:9536098
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1605949 D RGD:2325776|PMID:19264984 20100609 RGD DNA:nonsense mutations:exon:172_175del, 3116del, 3256C>T (human)
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1605949 D RGD:7240710 20241218 OMIM
1304759 Palb2 partner and localizer of BRCA2 gene DOID:1798 pancreatic endocrine carcinoma ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:28492532|PMID:28724667
1304759 Palb2 partner and localizer of BRCA2 gene DOID:2394 ovarian cancer ISO RGD:1605949 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:17200668|PMID:17287723|PMID:18288683|PMID:18302019|PMID:18446436|PMID:19333784|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23448497|PMID:23824750|PMID:23935836|PMID:24033266|PMID:24206657|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25186627|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25575445|PMID:25741868|PMID:25980754|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26689913|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28492532|PMID:28503720|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28873162|PMID:29052111|PMID:29368341|PMID:29387807|PMID:29522266|PMID:30113427|PMID:30287823|PMID:30982232|PMID:31159747|PMID:31214711|PMID:31422574|PMID:31636395|PMID:31742824|PMID:31757951|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32853339|PMID:32980694|PMID:33139182|PMID:33195396|PMID:33309985|PMID:3347191|PMID:33471991|PMID:33811135|PMID:34585473
1304759 Palb2 partner and localizer of BRCA2 gene DOID:2513 basal cell carcinoma ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:27878467|PMID:28135048|PMID:28423363|PMID:28492532|PMID:28779002|PMID:32339256|PMID:32566746|PMID:33471991
1304759 Palb2 partner and localizer of BRCA2 gene DOID:2871 endometrial carcinoma ISO RGD:1605949 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:17200668|PMID:20091115|PMID:21285249|PMID:21365267|PMID:22241545|PMID:22692731|PMID:25085752|PMID:25186627|PMID:25356972|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26689913|PMID:26692951|PMID:26898890|PMID:28440294|PMID:28492532|PMID:28580595|PMID:28767289|PMID:28779002|PMID:30287823|PMID:31468469|PMID:31636395|PMID:32068069|PMID:32091409|PMID:32566746|PMID:32625235|PMID:32659497|PMID:32885271|PMID:33113089|PMID:33471991|PMID:33563768|PMID:33588785|PMID:34326862|PMID:36271373
1304759 Palb2 partner and localizer of BRCA2 gene DOID:3302 chordoma ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Chordoma PMID:25085752|PMID:25741868|PMID:26283626|PMID:26315354|PMID:27106063|PMID:27443514|PMID:28492532|PMID:28779002|PMID:29522266|PMID:30303537|PMID:30680046|PMID:31636395|PMID:32546565|PMID:33471991|PMID:34284872|PMID:35762214
1304759 Palb2 partner and localizer of BRCA2 gene DOID:3459 breast carcinoma ISO RGD:1605949 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:18987736|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:21165770|PMID:21285249|PMID:21365267|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:23448497|PMID:23555315|PMID:23824750|PMID:23935836|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26564480|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26878173|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28709830|PMID:29052111|PMID:29478780|PMID:29625052|PMID:30086788|PMID:30113427|PMID:30833416|PMID:31159747|PMID:31312277|PMID:31570822|PMID:31586400|PMID:31636395|PMID:31757951|PMID:32295079|PMID:32546565|PMID:32554798|PMID:32658311|PMID:32853339|PMID:32885271|PMID:32997802|PMID:33471991|PMID:33674644|PMID:33964450
1304759 Palb2 partner and localizer of BRCA2 gene DOID:3969 papillary thyroid carcinoma ISO RGD:1605949 D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:25741868|PMID:28492532
1304759 Palb2 partner and localizer of BRCA2 gene DOID:4001 ovarian carcinoma ISO RGD:1605949 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:17200671|PMID:20927582|PMID:21165770|PMID:21365267|PMID:25741868|PMID:26283626|PMID:26296701|PMID:28492532
1304759 Palb2 partner and localizer of BRCA2 gene DOID:4606 bile duct cancer ISO RGD:1605949 D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823
1304759 Palb2 partner and localizer of BRCA2 gene DOID:4851 pilocytic astrocytoma ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:25741868|PMID:26283626|PMID:28492532|PMID:28664506|PMID:32546565
1304759 Palb2 partner and localizer of BRCA2 gene DOID:4905 pancreatic carcinoma ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:17200668|PMID:17200671|PMID:17200672|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:21165770|PMID:21285249|PMID:21365267|PMID:24061862|PMID:24136930|PMID:24415441|PMID:25099575|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25959805|PMID:26083025|PMID:26270727|PMID:26467025|PMID:26689913|PMID:26720728|PMID:26845104|PMID:27038244|PMID:27099641|PMID:27106063|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28709830|PMID:29052111|PMID:29478780|PMID:29625052|PMID:30086788|PMID:30113427|PMID:30833416|PMID:31159747|PMID:31312277|PMID:31570822|PMID:32295079|PMID:32546565|PMID:32554798|PMID:32853339|PMID:32885271|PMID:32997802|PMID:33471991|PMID:33674644
1304759 Palb2 partner and localizer of BRCA2 gene DOID:5074 high grade ependymoma ISO RGD:1605949 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Malignant ependymoma PMID:21285249|PMID:25085752|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27616075|PMID:28492532|PMID:28678401|PMID:31636395|PMID:33471991
1304759 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098
1304759 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098
1304759 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098
1304759 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID