# RGD-PIPELINE: ftp-file-extracts
# MODULE: annotations-version-1.1.9 (Oct 10, 2019)
# GENERATED-ON: 2025/02/01
# PURPOSE: annotations about active Green Monkey 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
18337501 GTF2E2 general transcription factor IIE subunit 2 gene DOID:0111872 nonphotosensitive trichothiodystrophy 6 ISO RGD:1320859 D RGD:7240710 20200205 OMIM
18337501 GTF2E2 general transcription factor IIE subunit 2 gene DOID:0111872 nonphotosensitive trichothiodystrophy 6 ISO RGD:1320859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GTF2E2-related condition | ClinVar Annotator: match by term: Trichothiodystrophy 6, nonphotosensitive PMID:25741868|PMID:26996949|PMID:28492532
18337501 GTF2E2 general transcription factor IIE subunit 2 gene DOID:630 genetic disease ISO RGD:1320859 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
18337521 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577
18337521 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1342982 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
18337521 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532
18337521 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1342982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532
18337521 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18337521 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1342982 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15308739
18337521 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:5812 MHC class II deficiency ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532
18337521 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342982 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25231249
18337521 CCT3 chaperonin containing TCP1 subunit 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18337549 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities ISO RGD:1343743 D RGD:7240710 20200205 OMIM
18337549 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities ISO RGD:1343743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: IQSEC1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:31607425
18337549 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343743 D RGD:9068941 20220908 RGD mRNA:decreased expression:lung (human) PMID:22491060|REF_RGD_ID:153350086
18337549 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:2543,RGD:621279 D RGD:9068941 20220908 RGD PMID:24902879|REF_RGD_ID:153350085
18337549 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1343743 D RGD:9068941 20220901 RGD associated with lung adenocarcinoma; protein:increased expression:lung (human) PMID:21966491|REF_RGD_ID:153344600
18337549 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality
18337549 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1343743 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27935865
18337549 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9006618 Liver Metastasis ISO RGD:1343743 D RGD:9068941 20220901 RGD human cells in mouse model PMID:22662237|REF_RGD_ID:153344589
18337549 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9008582 Developmental Disease ISO RGD:1343743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868
18337549 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9009121 lung metastasis ISO RGD:1343743 D RGD:9068941 20220901 RGD human cells in mouse model PMID:18084281|REF_RGD_ID:153344604
18337593 LOC103232246 P2Y receptor family member 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
18337593 LOC103232246 P2Y receptor family member 10 gene DOID:0111823 autosomal hemophilia A ISO RGD:1343009 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
18337593 LOC103232246 P2Y receptor family member 10 gene DOID:12134 factor VIII deficiency ISO RGD:1343009 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
18337593 LOC103232246 P2Y receptor family member 10 gene DOID:12849 autistic disorder ISO RGD:1343009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18337612 WNT9B Wnt family member 9B gene DOID:0080204 renal hypoplasia ISO RGD:1319983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:34145744
18337612 WNT9B Wnt family member 9B gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319983 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859
18337612 WNT9B Wnt family member 9B gene DOID:630 genetic disease ISO RGD:1319983 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
18337612 WNT9B Wnt family member 9B gene DOID:784 chronic kidney disease ISO RGD:1319983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:34145744
18337612 WNT9B Wnt family member 9B gene DOID:891 progressive myoclonus epilepsy ISO RGD:1319983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:21549339|PMID:28492532
18337627 SLC17A7 solute carrier family 17 member 7 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532
18337627 SLC17A7 solute carrier family 17 member 7 gene DOID:11446 sciatic neuropathy ISO RGD:620101 D RGD:9068941 20211008 RGD protein:decreased expression:nucleus accumbens PMID:23835161|REF_RGD_ID:9999206
18337627 SLC17A7 solute carrier family 17 member 7 gene DOID:224 transient cerebral ischemia ISO RGD:620101 D RGD:9068941 20211008 RGD PMID:23458738|REF_RGD_ID:9999193
18337627 SLC17A7 solute carrier family 17 member 7 gene DOID:8927 learning disability ISO RGD:733841 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21295146
18337627 SLC17A7 solute carrier family 17 member 7 gene DOID:9008023 Memory Disorders ISO RGD:733841 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21295146
18337648 CCDC146 coiled-coil domain containing 146 gene DOID:0070593 spermatogenic failure 94 ISO RGD:1605975 D RGD:7240710 20240710 OMIM
18337648 CCDC146 coiled-coil domain containing 146 gene DOID:0070593 spermatogenic failure 94 ISO RGD:1605975 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 94 PMID:38441556
18337648 CCDC146 coiled-coil domain containing 146 gene DOID:0111915 spermatogenic failure 33 ISO RGD:1605975 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Male infertility due to sperm motility disorder | ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder due to single gene mutation PMID:38441556
18337648 CCDC146 coiled-coil domain containing 146 gene DOID:12336 male infertility ISO RGD:1615819 D RGD:9068941 20240208 MouseDO
18337648 CCDC146 coiled-coil domain containing 146 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
18337648 CCDC146 coiled-coil domain containing 146 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1605975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
18337682 SHD Src homology 2 domain containing transforming protein D gene DOID:13938 amenorrhea ISO RGD:1601984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106
18337695 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1316312 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532
18337695 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1316312 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532
18337695 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:0112139 nuclear type mitochondrial complex I deficiency 35 ISO RGD:1316312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 PMID:28040730
18337695 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316312 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:32738225|PMID:32788587
18337695 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9006331 Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities ISO RGD:1316312 D RGD:7240710 20210120 OMIM
18337695 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9006331 Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities ISO RGD:1316312 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities PMID:25741868|PMID:28492532|PMID:32738225|PMID:32788587|PMID:33001864
18337695 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9008582 Developmental Disease ISO RGD:1316312 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532|PMID:32738225
18337695 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9008961 Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities ISO RGD:1316312 D RGD:7240710 20201202 OMIM
18337695 NARS1 asparaginyl-tRNA synthetase 1 gene DOID:9008961 Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities ISO RGD:1316312 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: NARS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities PMID:25741868|PMID:28492532|PMID:32738225
18337782 ODF2 outer dense fiber of sperm tails 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731998 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
18337782 ODF2 outer dense fiber of sperm tails 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:731998 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
18337782 ODF2 outer dense fiber of sperm tails 2 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:731998 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
18337782 ODF2 outer dense fiber of sperm tails 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731998 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
18337782 ODF2 outer dense fiber of sperm tails 2 gene DOID:543 dystonia ISO RGD:731998 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:28492532
18337868 DIAPH3 diaphanous related formin 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1350370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
18337868 DIAPH3 diaphanous related formin 3 gene DOID:0060690 autosomal dominant auditory neuropathy 1 ISO RGD:1350370 D RGD:7240710 20200205 OMIM
18337868 DIAPH3 diaphanous related formin 3 gene DOID:0060690 autosomal dominant auditory neuropathy 1 ISO RGD:1350370 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT | ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition PMID:15520414|PMID:17576681|PMID:20624953|PMID:21220648|PMID:25741868|PMID:26467025|PMID:27658576|PMID:28492532|PMID:9536098
18337868 DIAPH3 diaphanous related formin 3 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1314906 D RGD:9068941 20220825 MouseDO
18337868 DIAPH3 diaphanous related formin 3 gene DOID:9004538 Hearing Loss ISO RGD:1350370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386
18337906 BTG3 BTG anti-proliferation factor 3 gene DOID:10652 Alzheimer's disease ISO RGD:733952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562
18337906 BTG3 BTG anti-proliferation factor 3 gene DOID:13580 cholestasis ISO RGD:733952 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27989131
18337906 BTG3 BTG anti-proliferation factor 3 gene DOID:4450 renal cell carcinoma ISO RGD:733952 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19221000
18337906 BTG3 BTG anti-proliferation factor 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733952 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19565504
18337906 BTG3 BTG anti-proliferation factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18337922 SNRK SNF related kinase gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:735399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532
18337942 ARMC12 armadillo repeat containing 12 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1314376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
18337942 ARMC12 armadillo repeat containing 12 gene DOID:0070589 spermatogenic failure 90 ISO RGD:1314376 D RGD:7240710 20240320 OMIM
18337942 ARMC12 armadillo repeat containing 12 gene DOID:0070589 spermatogenic failure 90 ISO RGD:1314376 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 90 PMID:35534203
18337942 ARMC12 armadillo repeat containing 12 gene DOID:10283 prostate cancer ISO RGD:1314376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
18337973 CD14 CD14 molecule gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532
18337973 CD14 CD14 molecule gene DOID:0070508 metabolic dysfunction and alcohol associated liver disease treatment ISO RGD:620588 D RGD:9068941 20240801 RGD PMID:23277536|REF_RGD_ID:407424596
18337973 CD14 CD14 molecule gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1347263 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20353583
18337973 CD14 CD14 molecule gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347263 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
18337973 CD14 CD14 molecule gene DOID:0080642 Middle East respiratory syndrome ISO RGD:733890 D RGD:9068941 20211008 RGD mRNA:increased expression:lung PMID:31838832|REF_RGD_ID:30309204
18337973 CD14 CD14 molecule gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1347263 D RGD:9068941 20211008 RGD PMID:20555320|REF_RGD_ID:7204130
18337973 CD14 CD14 molecule gene DOID:0110861 autosomal recessive polycystic kidney disease severity ISO RGD:733890 D RGD:9068941 20211008 RGD PMID:20555320|REF_RGD_ID:7204130
18337973 CD14 CD14 molecule gene DOID:10487 Hirschsprung's disease ISO RGD:620588 D RGD:9068941 20211008 RGD protein:increased expression:intestine: PMID:15117676|REF_RGD_ID:7193054
18337973 CD14 CD14 molecule gene DOID:10608 celiac disease ISO RGD:1347263 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP:promoter: PMID:18728522|REF_RGD_ID:2314152
18337973 CD14 CD14 molecule gene DOID:10763 hypertension ISO RGD:1347263 D RGD:9068941 20211008 RGD associated with Glomerulonephritis, IGA; DNA:polymorphism: :-159C>T (human) PMID:22072187|REF_RGD_ID:7204129
18337973 CD14 CD14 molecule gene DOID:11335 sarcoidosis ISO RGD:1347263 D RGD:9068941 20211008 RGD protein:increased expression:serum PMID:20430603|REF_RGD_ID:4144780
18337973 CD14 CD14 molecule gene DOID:11335 sarcoidosis susceptibility ISO RGD:1347263 D RGD:9068941 20211008 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:20430603|REF_RGD_ID:4144780
18337973 CD14 CD14 molecule gene DOID:1205 allergic disease resistance ISO RGD:1347263 D RGD:9068941 20211008 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:19222419|REF_RGD_ID:4144798
18337973 CD14 CD14 molecule gene DOID:12236 primary biliary cholangitis disease_progression ISO RGD:1347263 D RGD:9068941 20240801 RGD protein:increased expression:liver (human) PMID:21275501|REF_RGD_ID:407420272
18337973 CD14 CD14 molecule gene DOID:13189 gout ISO RGD:1347263 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26462562
18337973 CD14 CD14 molecule gene DOID:13250 diarrhea ISO RGD:1347263 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21596674
18337973 CD14 CD14 molecule gene DOID:13580 cholestasis ISO RGD:620588 D RGD:9068941 20211008 RGD PMID:22511970|REF_RGD_ID:7183752
18337973 CD14 CD14 molecule gene DOID:13603 obstructive jaundice ISO RGD:620588 D RGD:9068941 20211008 RGD mRNA:increased expression:ileum, liver, lung, spleen PMID:25093541|REF_RGD_ID:9685190
18337973 CD14 CD14 molecule gene DOID:13608 biliary atresia disease_progression ISO RGD:1347263 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:liver, plasma: PMID:21172039|REF_RGD_ID:7184431
18337973 CD14 CD14 molecule gene DOID:1485 cystic fibrosis ISO RGD:1347263 D RGD:9068941 20211008 RGD protein:increased expression:Macrophages, Alveolar PMID:20302606|REF_RGD_ID:4144794
18337973 CD14 CD14 molecule gene DOID:1485 cystic fibrosis susceptibility ISO RGD:1347263 D RGD:9068941 20211008 RGD DNA:polymorphism:promoter:c. -159 C>T PMID:19466271|REF_RGD_ID:4144796
18337973 CD14 CD14 molecule gene DOID:2841 asthma ISO RGD:1347263 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17607003
18337973 CD14 CD14 molecule gene DOID:2841 asthma ISO RGD:1347263 D RGD:9068941 20211008 RGD DNA:SNPs: : PMID:19096003|REF_RGD_ID:4144228
18337973 CD14 CD14 molecule gene DOID:2841 asthma ISO RGD:1347263 D RGD:9068941 20211008 RGD protein:increased expression:serum PMID:16387800|REF_RGD_ID:4144813
18337973 CD14 CD14 molecule gene DOID:2841 asthma no_association ISO RGD:1347263 D RGD:9068941 20211008 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:15741437|REF_RGD_ID:4144815
18337973 CD14 CD14 molecule gene DOID:2841 asthma severity ISO RGD:1347263 D RGD:9068941 20211008 RGD DNA:polymorphism:promoter:c. -260C>T (human) PMID:15940135|REF_RGD_ID:4144814
18337973 CD14 CD14 molecule gene DOID:2841 asthma severity ISO RGD:1347263 D RGD:9068941 20211008 RGD protein:increased expression:serum|DNA:polymorphism:promoter:c. -159C>T (human) PMID:16387800|REF_RGD_ID:4144813
18337973 CD14 CD14 molecule gene DOID:2841 asthma susceptibility ISO RGD:1347263 D RGD:9068941 20211008 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:18312481|REF_RGD_ID:4144208
18337973 CD14 CD14 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1347263 D RGD:9068941 20211008 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168
18337973 CD14 CD14 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1347263 D RGD:9068941 20211008 RGD protein:increased expression:monocyte, serum PMID:18008256|REF_RGD_ID:4144205
18337973 CD14 CD14 molecule gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1347263 D RGD:9068941 20211008 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:18008256|REF_RGD_ID:4144205
18337973 CD14 CD14 molecule gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1347263 D RGD:9068941 20211008 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:12566518|REF_RGD_ID:7204499
18337973 CD14 CD14 molecule gene DOID:3393 coronary artery disease no_association ISO RGD:1347263 D RGD:9068941 20211008 RGD DNA:SNP:promoter PMID:18157711|REF_RGD_ID:2314154
18337973 CD14 CD14 molecule gene DOID:3407 carotid artery disease ISO RGD:1347263 D RGD:9068941 20211008 RGD DNA:SNP:promotor PMID:16873708|REF_RGD_ID:2314156
18337973 CD14 CD14 molecule gene DOID:3407 carotid artery disease susceptibility ISO RGD:1347263 D RGD:9068941 20211008 RGD associated with Kidney Failure, Chronic; DNA:polymorphism:promoter:c. -159C>T (human) PMID:15640605|REF_RGD_ID:7204441
18337973 CD14 CD14 molecule gene DOID:4483 rhinitis resistance ISO RGD:1347263 D RGD:9068941 20211008 RGD DNA:polymorphism:promoter:c. -159c>T (human) PMID:16950285|REF_RGD_ID:4144810
18337973 CD14 CD14 molecule gene DOID:4483 rhinitis susceptibility ISO RGD:1347263 D RGD:9068941 20211008 RGD DNA:polymorphism:promoter:c. -159c>T (human) PMID:20109306|REF_RGD_ID:4144795
18337973 CD14 CD14 molecule gene DOID:4989 pancreatitis ISO RGD:733890 D RGD:9068941 20211008 RGD PMID:19201771|REF_RGD_ID:4144143
18337973 CD14 CD14 molecule gene DOID:5082 liver cirrhosis ISO RGD:1347263 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20353583
18337973 CD14 CD14 molecule gene DOID:5199 ureteral obstruction ISO RGD:733890 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:kidney PMID:10966493|REF_RGD_ID:7204444
18337973 CD14 CD14 molecule gene DOID:552 pneumonia ISO RGD:1347263 D RGD:9068941 20211008 RGD protein:increased expression:multiple PMID:20302606|REF_RGD_ID:4144794
18337973 CD14 CD14 molecule gene DOID:5844 myocardial infarction ISO RGD:1347263 D RGD:9068941 20211008 RGD PMID:10195920|PMID:14587643|REF_RGD_ID:1580252|REF_RGD_ID:1580255
18337973 CD14 CD14 molecule gene DOID:5844 myocardial infarction no_association ISO RGD:1347263 D RGD:9068941 20211008 RGD associated with Coronary Artery Disease;DNA:SNP:promoter PMID:17436151|REF_RGD_ID:2314155
18337973 CD14 CD14 molecule gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1347263 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19565504
18337973 CD14 CD14 molecule gene DOID:824 periodontitis ISO RGD:620588 D RGD:9068941 20211008 RGD protein:increased expression:monocyte, neutrophil: PMID:17565820|REF_RGD_ID:7191232
18337973 CD14 CD14 molecule gene DOID:850 lung disease ISO RGD:733890 D RGD:9068941 20211008 RGD acute lung injury PMID:15731076|REF_RGD_ID:4144789
18337973 CD14 CD14 molecule gene DOID:850 lung disease ISO RGD:733890 D RGD:9068941 20211008 RGD lung injury associated with Kidney Failure, Acute; mRNA:increased expression:lung PMID:18235097|REF_RGD_ID:4144782
18337973 CD14 CD14 molecule gene DOID:850 lung disease ISO RGD:733890 D RGD:9068941 20211008 RGD lung injury associated with pancreatitis PMID:19201771|REF_RGD_ID:4144143
18337973 CD14 CD14 molecule gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1347263 D RGD:9068941 20211008 RGD protein:increased expression:small intestine PMID:19824106|REF_RGD_ID:4144091
18337973 CD14 CD14 molecule gene DOID:8677 perinatal necrotizing enterocolitis disease_progression ISO RGD:620588 D RGD:9068941 20211008 RGD PMID:19824106|REF_RGD_ID:4144091
18337973 CD14 CD14 molecule gene DOID:874 bacterial pneumonia ISO RGD:733890 D RGD:9068941 20211008 RGD PMID:16210672|REF_RGD_ID:4144197
18337973 CD14 CD14 molecule gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1347263 D RGD:9068941 20211008 RGD protein:altered localization:kidney,urine PMID:20555320|REF_RGD_ID:7204130
18337973 CD14 CD14 molecule gene DOID:9000528 Coronary Disease ISO RGD:1347263 D RGD:9068941 20211008 RGD protein:increased expression:monocyte PMID:10831941|REF_RGD_ID:2314175
18337973 CD14 CD14 molecule gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1347263 D RGD:9068941 20211008 RGD associated with asthma; DNA:polymorphism:promoter:c. -159C>T (human) PMID:17196641|REF_RGD_ID:4144784
18337973 CD14 CD14 molecule gene DOID:9000998 Brain Injuries ISO RGD:1347263 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21549006
18337973 CD14 CD14 molecule gene DOID:9001488 Human Influenza ISO RGD:733890 D RGD:9068941 20211008 RGD PMID:17825924|REF_RGD_ID:4144809
18337973 CD14 CD14 molecule gene DOID:9001981 Weight Loss ISO RGD:1347263 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28411859
18337973 CD14 CD14 molecule gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:733890 D RGD:9068941 20211008 RGD PMID:17185649|REF_RGD_ID:4144788
18337973 CD14 CD14 molecule gene DOID:9002159 Liver Reperfusion Injury ISO RGD:620588 D RGD:9068941 20211008 RGD PMID:22564590|REF_RGD_ID:7183676
18337973 CD14 CD14 molecule gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620588 D RGD:9068941 20211008 RGD mRNA:increased expression:lung, intestine: PMID:19534684|REF_RGD_ID:7185660
18337973 CD14 CD14 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18337973 CD14 CD14 molecule gene DOID:9004590 Acute Liver Failure ISO RGD:620588 D RGD:9068941 20211008 RGD mRNA:increased expression:liver PMID:18070011|REF_RGD_ID:4144156
18337973 CD14 CD14 molecule gene DOID:9005930 Endotoxemia ISO RGD:620588 D RGD:9068941 20211008 RGD protein:increased expression:liver, endothelial cell of sinusoid PMID:12046090|REF_RGD_ID:724637
18337973 CD14 CD14 molecule gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:733890 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:kidney PMID:10966493|REF_RGD_ID:7204444
18337973 CD14 CD14 molecule gene DOID:9006647 Experimental Autoimmune Neuritis severity ISO RGD:620588 D RGD:9068941 20211008 RGD PMID:19162137|REF_RGD_ID:2312712
18337973 CD14 CD14 molecule gene DOID:9006928 Viral Bronchiolitis ISO RGD:1347263 D RGD:9068941 20211008 RGD DNA:polymorphism:promoter:c.-550C>T (human) PMID:17471431|REF_RGD_ID:4144210
18337973 CD14 CD14 molecule gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347263 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
18337973 CD14 CD14 molecule gene DOID:9007356 Eczema ISO RGD:1347263 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19759553
18337973 CD14 CD14 molecule gene DOID:9007730 Burns ISO RGD:620588 D RGD:9068941 20211008 RGD PMID:12435950|REF_RGD_ID:2313390
18337973 CD14 CD14 molecule gene DOID:9007730 Burns ISO RGD:620588 D RGD:9068941 20211008 RGD mRNA:increased expression:multiple organs: PMID:11829837|REF_RGD_ID:7204443
18337973 CD14 CD14 molecule gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:620588 D RGD:9068941 20211008 RGD protein:increased expression:heart, kidney, liver, lung PMID:22493902|REF_RGD_ID:9685194
18337973 CD14 CD14 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347263 D RGD:9068941 20211008 RGD protein:increased expression:monocyte PMID:10831941|REF_RGD_ID:2314175
18337973 CD14 CD14 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:733890 D RGD:9068941 20211008 RGD PMID:14614560|REF_RGD_ID:2314173
18337984 LOC103233581 follistatin-related protein 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1348302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532
18337984 LOC103233581 follistatin-related protein 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1348302 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532
18337993 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1606289 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:25901006|PMID:32722639
18337993 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:0112095 nuclear type mitochondrial complex I deficiency 28 ISO RGD:1606289 D RGD:7240710 20200205 OMIM
18337993 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:0112095 nuclear type mitochondrial complex I deficiency 28 ISO RGD:1606289 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 PMID:25741868|PMID:25901006|PMID:28492532|PMID:32722639
18337993 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1606289 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:32722639
18337993 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:14330 Parkinson's disease ISO RGD:1606289 D RGD:9068941 20211008 RGD PMID:26605748|REF_RGD_ID:13504667
18337993 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:3526 cerebral infarction ISO RGD:6492821 D RGD:9068941 20231102 RGD protein:increased expression:brain, neuron, astrocyte: PMID:17523870|REF_RGD_ID:401854233
18337993 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:3650 lactic acidosis ISO RGD:1606289 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Lactic acidosis PMID:25741868|PMID:32722639
18337993 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:3652 Leigh disease ISO RGD:1606289 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease PMID:25741868|PMID:32722639
18337993 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:630 genetic disease ISO RGD:1606289 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25901006|PMID:28492532|PMID:32722639
18337993 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:8161 oncocytic carcinoma of the thyroid ISO RGD:1606289 D RGD:7240710 20200205 OMIM
18337993 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:8161 oncocytic carcinoma of the thyroid ISO RGD:1606289 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Hurthle cell carcinoma of the thyroid | ClinVar Annotator: match by term: NDUFA13-related condition PMID:15841082|PMID:25741868|PMID:28492532
18337993 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1606289 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:32722639
18337993 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:9650 pathologic nystagmus ISO RGD:1606289 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868|PMID:32722639
18338002 PSMB7 proteasome 20S subunit beta 7 gene DOID:0060224 atrial fibrillation ISO RGD:732115 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29892015
18338002 PSMB7 proteasome 20S subunit beta 7 gene DOID:0080600 COVID-19 ISO RGD:732115 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18338016 ADNP2 ADNP homeobox 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1605090 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835
18338016 ADNP2 ADNP homeobox 2 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003
18338016 ADNP2 ADNP homeobox 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1605090 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868
18338016 ADNP2 ADNP homeobox 2 gene DOID:8445 intestinal volvulus ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868
18338016 ADNP2 ADNP homeobox 2 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1605090 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003
18338016 ADNP2 ADNP homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18338016 ADNP2 ADNP homeobox 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868
18338046 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1352192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532
18338046 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0060997 rhabdoid tumor predisposition syndrome 2 ISO RGD:1352192 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 PMID:28492532
18338046 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0070554 palmoplantar keratoderma and woolly hair ISO RGD:1352192 D RGD:7240710 20200205 OMIM
18338046 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0070554 palmoplantar keratoderma and woolly hair ISO RGD:1352192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair PMID:24671081|PMID:25741868|PMID:28492532
18338046 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0080272 nephrotic syndrome type 16 ISO RGD:1352192 D RGD:7240710 20200205 OMIM
18338046 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0080272 nephrotic syndrome type 16 ISO RGD:1352192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16 PMID:25741868|PMID:25961457|PMID:28492532
18338046 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1352192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532
18338046 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1352192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532
18338046 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1352192 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532
18338046 KANK2 KN motif and ankyrin repeat domains 2 gene DOID:9775 diastolic heart failure ISO RGD:1352192 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1348865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:1348865 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: BLS, TYPE I | ClinVar Annotator: match by term: MHC class I deficiency PMID:10560675|PMID:11529920|PMID:12067308|PMID:1570316|PMID:16199547|PMID:17576681|PMID:23662797|PMID:24033266|PMID:25741868|PMID:26122175|PMID:28492532|PMID:36229627|PMID:7517574|PMID:9536098
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060704 lymphoproliferative syndrome susceptibility ISO RGD:1348865 D RGD:9068941 20211008 RGD DNA:nonsense mutation PMID:10560675|REF_RGD_ID:1601413
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060913 proteosome-associated autoinflammatory syndrome ISO RGD:1348865 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Proteosome-associated autoinflammatory syndrome PMID:11529920|PMID:12067308|PMID:23662797|PMID:28492532|PMID:7517574
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1348865 D RGD:9068941 20211008 RGD PMID:21796142|REF_RGD_ID:5147839
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:1025 tuberculoid leprosy susceptibility ISO RGD:1348865 D RGD:9068941 20211008 RGD DNA:polymorphism: : PMID:9062973|REF_RGD_ID:5147851
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:10316 pneumoconiosis ISO RGD:1348865 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348865 D RGD:9068941 20211008 RGD DNA:SNP: :(rs241448)(human) PMID:16595160|REF_RGD_ID:6482265
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:12206 dengue hemorrhagic fever susceptibility ISO RGD:1348865 D RGD:9068941 20211008 RGD DNA:SNPs: : PMID:18071882|REF_RGD_ID:6482261
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:1577 limited scleroderma susceptibility ISO RGD:1348865 D RGD:9068941 20211008 RGD PMID:16112028|REF_RGD_ID:1578361
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1348865 D RGD:9068941 20211008 RGD PMID:16112028|REF_RGD_ID:1578361
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis ISO RGD:1348865 D RGD:9068941 20211008 RGD DNA:SNPs:CDs:p.V379I, A565T(human) PMID:7928442|REF_RGD_ID:6482280
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis no_association ISO RGD:1348865 D RGD:9068941 20211008 RGD DNA:SNPs:CDs:p.V379I, A565T(human) PMID:7797617|REF_RGD_ID:6482281
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1348865 D RGD:9068941 20211008 RGD DNA:synonymous mutation: : PMID:7759306|REF_RGD_ID:6482279
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:2893 cervix carcinoma susceptibility ISO RGD:1348865 D RGD:9068941 20211008 RGD DNA:SNP: :(rs4148876)(human) PMID:17366619|REF_RGD_ID:6482264
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1348865 D RGD:9068941 20211008 RGD DNA:polymorphism: : PMID:9062973|REF_RGD_ID:5147851
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:3042 allergic contact dermatitis susceptibility ISO RGD:1348865 D RGD:9068941 20211008 RGD PMID:9303338|REF_RGD_ID:6482276
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348865 D RGD:9068941 20211008 RGD protein:decreased expression:esophagus PMID:19492245|REF_RGD_ID:6482249
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer ISO RGD:1348865 D RGD:9068941 20211008 RGD DNA:SNPs: : PMID:18248301|REF_RGD_ID:6482260
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer susceptibility ISO RGD:1348865 D RGD:9068941 20211008 RGD DNA:SNPs: : PMID:12648582|REF_RGD_ID:6482272
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:6196 reactive arthritis ISO RGD:1348865 D RGD:9068941 20211008 RGD PMID:7748224|REF_RGD_ID:6482278
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:630 genetic disease ISO RGD:1348865 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:7147 ankylosing spondylitis ISO RGD:1348865 D RGD:9068941 20211008 RGD DNA:SNPs: : PMID:19480848|REF_RGD_ID:6482250
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:7148 rheumatoid arthritis ISO RGD:1348865 D RGD:9068941 20211008 RGD PMID:9645419|REF_RGD_ID:6482275
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:8893 psoriasis susceptibility ISO RGD:1348865 D RGD:9068941 20211008 RGD DNA:SNPs:CDs:p.T665A, Q687Q(human) PMID:17581627|REF_RGD_ID:6482263
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9006078 MHC CLASS I DEFICIENCY 2 ISO RGD:1348865 D RGD:7240710 20240619 OMIM
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9006078 MHC CLASS I DEFICIENCY 2 ISO RGD:1348865 D RGD:8554872 20240625 ClinVar ClinVar Annotator: match by term: MHC class I deficiency 2 | ClinVar Annotator: match by term: TAP2-related condition PMID:11529920|PMID:12067308|PMID:23662797|PMID:24033266|PMID:25741868|PMID:28492532|PMID:36229627|PMID:7517574
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9007425 Diffuse Panbronchiolitis susceptibility ISO RGD:1348865 D RGD:9068941 20211008 RGD DNA:polymorphisms:exon: PMID:10323341|REF_RGD_ID:5147847
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1348865 D RGD:9068941 20211008 RGD PMID:9014588|REF_RGD_ID:6482277
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1348865 D RGD:9068941 20211008 RGD PMID:12634240|REF_RGD_ID:6482273
18338073 TAP2 transporter 2, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348865 D RGD:9068941 20211008 RGD PMID:1300236|PMID:17192492|REF_RGD_ID:2312368|REF_RGD_ID:2312373
18338089 GCKR glucokinase regulator gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:69130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:28492532
18338089 GCKR glucokinase regulator gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:69130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532
18338089 GCKR glucokinase regulator gene DOID:783 end stage renal disease ISO RGD:69130 D RGD:9068941 20211008 RGD DNA: snp: rs1260326 PMID:21980298|REF_RGD_ID:7242279
18338089 GCKR glucokinase regulator gene DOID:9006599 Hypertriglyceridemia ISO RGD:69130 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:22182842|PMID:25741868|PMID:28492532
18338089 GCKR glucokinase regulator gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:69130 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes: (rs780094) (human) PMID:27599772|REF_RGD_ID:401794577
18338089 GCKR glucokinase regulator gene DOID:9006646 Metabolic Syndrome ISO RGD:69130 D RGD:9068941 20211008 RGD PMID:19861489|REF_RGD_ID:7242423
18338089 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20081858
18338089 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20211008 RGD PMID:11473043|PMID:21411509|REF_RGD_ID:2315986|REF_RGD_ID:7242280
18338089 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20211008 RGD DNA:SNP::rs1260326(human) PMID:18556336|REF_RGD_ID:2315985
18338089 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20211008 RGD DNA:polymorphism: :rs780094 (human) PMID:19241058|REF_RGD_ID:2315983
18338089 GCKR glucokinase regulator gene DOID:9970 obesity no_association ISO RGD:69130 D RGD:9068941 20211008 RGD DNA:mutations:CDS:no association with mutations P446L, R590Y, R227X or R518Q in obese French patients despite localization of gene within a QTL for obesity-related phenotypes PMID:12739015|REF_RGD_ID:1626607
18338173 POLM DNA polymerase mu gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
18338215 PSMG2 proteasome assembly chaperone 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1312554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835
18338215 PSMG2 proteasome assembly chaperone 2 gene DOID:0060915 proteosome-associated autoinflammatory syndrome 4 ISO RGD:1312554 D RGD:7240710 20210303 OMIM
18338215 PSMG2 proteasome assembly chaperone 2 gene DOID:0060915 proteosome-associated autoinflammatory syndrome 4 ISO RGD:1312554 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: PSMG2-related condition | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 4 PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:30664889|PMID:9536098
18338215 PSMG2 proteasome assembly chaperone 2 gene DOID:1059 intellectual disability ISO RGD:1312554 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability
18338215 PSMG2 proteasome assembly chaperone 2 gene DOID:543 dystonia ISO RGD:1312554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532
18338215 PSMG2 proteasome assembly chaperone 2 gene DOID:9007661 Dwarfism ISO RGD:1312554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:11527630|PMID:11901046|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:20129283|PMID:21646736|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25301907|PMID:25437880|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29247119|PMID:29911575|PMID:29992996|PMID:30099632|PMID:30135145|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31780880|PMID:32581362|PMID:32948286|PMID:33352116|PMID:9536098
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:20129283|PMID:21646736|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:32581362|PMID:32948286|PMID:33352116|PMID:9536098
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:19763152|PMID:20129283|PMID:20307669|PMID:21270786|PMID:21646736|PMID:22406018|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25974703|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31928344|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:33352116|PMID:34385907|PMID:9536098
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:12097481|PMID:16199547|PMID:17576681|PMID:19763152|PMID:20129283|PMID:20307669|PMID:22406018|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28106320|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31928344|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:33352116|PMID:34385907|PMID:9536098
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:12097481|PMID:16199547|PMID:17576681|PMID:19763152|PMID:20129283|PMID:20307669|PMID:22406018|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28106320|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31928344|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:33352116|PMID:34385907|PMID:35330882|PMID:9536098
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0051019 Visceral Heterotaxy 4, Autosomal ISO RGD:1349086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0060224 atrial fibrillation ISO RGD:1349086 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20062060|PMID:29892015|PMID:30061737
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:1349086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 PMID:28492532
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0081075 Marsili syndrome ISO RGD:1349086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Impaired thermal sensitivity PMID:25741868|PMID:28492532|PMID:32581362
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1349086 D RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy PMID:25741868|PMID:28492532
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0110218 Brugada syndrome 1 ISO RGD:1349086 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:24998131|PMID:25053638|PMID:25085921|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:26733327|PMID:27711072|PMID:27884173|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29874177|PMID:30662450|PMID:30664616|PMID:30821013|PMID:32581362
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0111730 familial episodic pain syndrome 2 ISO RGD:1349086 D RGD:7240710 20200205 OMIM
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:0111730 familial episodic pain syndrome 2 ISO RGD:1349086 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Episodic pain syndrome, familial, 2 PMID:17576681|PMID:23115331|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:26220970|PMID:26423924|PMID:26733327|PMID:27711072|PMID:28074886|PMID:28078312|PMID:28106320|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29247119|PMID:29874177|PMID:29911575|PMID:30135145|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30821013|PMID:31195250|PMID:31780880|PMID:31928344|PMID:32581362|PMID:32917565|PMID:32948286|PMID:9536098
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:11446 sciatic neuropathy ISO RGD:3629 D RGD:9068941 20211008 RGD PMID:21965668|REF_RGD_ID:6484251
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:12849 autistic disorder ISO RGD:1349086 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Autism
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:2843 long QT syndrome ISO RGD:1349086 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1349086 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20062061
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9002211 Hyperalgesia ISO RGD:1349086 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16545521
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9002211 Hyperalgesia ISO RGD:3629 D RGD:9068941 20211008 RGD PMID:19070548|REF_RGD_ID:6484253
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1349086 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:12097481|PMID:16199547|PMID:17576681|PMID:23115331|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28106320|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31928344|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:34385907|PMID:35330882|PMID:9536098
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9003163 Heart Block ISO RGD:1349086 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20062061
18338229 SCN10A sodium voltage-gated channel alpha subunit 10 gene DOID:9005968 Neuralgia ISO RGD:1349086 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18400411
18338260 SLC30A3 solute carrier family 30 member 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1346114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532
18338260 SLC30A3 solute carrier family 30 member 3 gene DOID:9003921 Zinc Deficiency ISO RGD:1359689 D RGD:9068941 20241123 RGD PMID:24634117|REF_RGD_ID:408427354
18338260 SLC30A3 solute carrier family 30 member 3 gene DOID:9007956 Febrile Seizures ISO RGD:1346114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures
18338281 AGMO alkylglycerol monooxygenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
18338306 EIF4E eukaryotic translation initiation factor 4E gene DOID:0050746 mantle cell lymphoma ISO RGD:732833 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17148679
18338306 EIF4E eukaryotic translation initiation factor 4E gene DOID:0060041 autism spectrum disorder ISO RGD:732834 D RGD:9068941 20240425 MouseDO
18338306 EIF4E eukaryotic translation initiation factor 4E gene DOID:12849 autistic disorder ISO RGD:732833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 19 PMID:19556253
18338306 EIF4E eukaryotic translation initiation factor 4E gene DOID:12849 autistic disorder susceptibility ISO RGD:732833 D RGD:7240710 20200205 OMIM
18338306 EIF4E eukaryotic translation initiation factor 4E gene DOID:8725 vascular dementia ISO RGD:69647 D RGD:9068941 20211008 RGD protein:decreased expression:hippocampus PMID:23053837|REF_RGD_ID:10401142
18338306 EIF4E eukaryotic translation initiation factor 4E gene DOID:9004484 Sepsis ISO RGD:69647 D RGD:9068941 20211008 RGD PMID:17709445|REF_RGD_ID:10401144
18338306 EIF4E eukaryotic translation initiation factor 4E gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732833 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20388789
18338306 EIF4E eukaryotic translation initiation factor 4E gene DOID:9007102 Myocardial Ischemia ISO RGD:69647 D RGD:9068941 20211008 RGD PMID:16439989|REF_RGD_ID:10401145
18338327 PRR35 proline rich 35 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602296 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
18338327 PRR35 proline rich 35 gene DOID:1826 epilepsy ISO RGD:1602296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532
18338327 PRR35 proline rich 35 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532
18338347 NLN neurolysin gene DOID:0080600 COVID-19 ISO RGD:731408 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18338347 NLN neurolysin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18338387 SFTPC surfactant protein C gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736728 D RGD:8554872 20240702 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia PMID:14735158|PMID:15039969|PMID:15516475|PMID:15709974|PMID:18383112|PMID:19443464|PMID:19910179|PMID:22308375|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28492532|PMID:33526882
18338387 SFTPC surfactant protein C gene DOID:0050158 desquamative interstitial pneumonia ISO RGD:733829 D RGD:9068941 20220825 MouseDO OMIM:263000
18338387 SFTPC surfactant protein C gene DOID:0060971 interstitial lung disease 2 ISO RGD:736728 D RGD:8554872 20240702 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:14735158|PMID:15039969|PMID:15516475|PMID:15709974|PMID:18383112|PMID:19443464|PMID:19910179|PMID:22308375|PMID:23025826|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:25782673|PMID:27362365|PMID:28492532|PMID:33526882
18338387 SFTPC surfactant protein C gene DOID:0080000 muscular disease ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Skeletal muscle disease PMID:25741868
18338387 SFTPC surfactant protein C gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs PMID:25741868
18338387 SFTPC surfactant protein C gene DOID:0110342 osteogenesis imperfecta type 13 ISO RGD:736728 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii PMID:25741868
18338387 SFTPC surfactant protein C gene DOID:11339 pneumocystosis ISO RGD:733829 D RGD:9068941 20211008 RGD protein:decreased expression:lung PMID:11385364|REF_RGD_ID:4143431
18338387 SFTPC surfactant protein C gene DOID:11394 adult respiratory distress syndrome ISO RGD:736728 D RGD:9068941 20211008 RGD PMID:9720777|REF_RGD_ID:4144159
18338387 SFTPC surfactant protein C gene DOID:11394 adult respiratory distress syndrome ISO RGD:736728 D RGD:9068941 20211008 RGD protein:decreased expression:lung PMID:17662121|REF_RGD_ID:4143379
18338387 SFTPC surfactant protein C gene DOID:11612 polycystic ovary syndrome ISO RGD:736728 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21411543
18338387 SFTPC surfactant protein C gene DOID:12053 cryptococcosis ISO RGD:733829 D RGD:9068941 20211008 RGD mRNA:increased expression:lung (mouse) PMID:27596810|REF_RGD_ID:38549345
18338387 SFTPC surfactant protein C gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis PMID:25741868
18338387 SFTPC surfactant protein C gene DOID:12347 osteogenesis imperfecta ISO RGD:736728 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive PMID:24033266|PMID:25741868|PMID:28492532
18338387 SFTPC surfactant protein C gene DOID:12716 newborn respiratory distress syndrome ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868
18338387 SFTPC surfactant protein C gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:733829 D RGD:9068941 20211008 RGD PMID:19304906|REF_RGD_ID:4144065
18338387 SFTPC surfactant protein C gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736728 D RGD:9068941 20211008 RGD DNA:polymorphism: :138A>C, 186A>G (human) PMID:17121584|REF_RGD_ID:4144116
18338387 SFTPC surfactant protein C gene DOID:1485 cystic fibrosis ISO RGD:736728 D RGD:9068941 20211008 RGD protein:increased expression:lung PMID:15271694|REF_RGD_ID:4143403
18338387 SFTPC surfactant protein C gene DOID:2841 asthma ISO RGD:733829 D RGD:9068941 20211008 RGD mRNA, protein:decreased expression:lung PMID:11472974|REF_RGD_ID:4143465
18338387 SFTPC surfactant protein C gene DOID:2841 asthma ISO RGD:736728 D RGD:9068941 20211008 RGD protein:increased expression:lung PMID:16629790|REF_RGD_ID:4143462
18338387 SFTPC surfactant protein C gene DOID:2841 asthma susceptibility ISO RGD:736728 D RGD:9068941 20211008 RGD DNA:polymorphism: :p.A53T (human) PMID:19910179|REF_RGD_ID:4144063
18338387 SFTPC surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:25741868
18338387 SFTPC surfactant protein C gene DOID:3082 interstitial lung disease susceptibility ISO RGD:736728 D RGD:9068941 20211008 RGD DNA:polymorphism:exon:p.N186S (human) PMID:16423270|REF_RGD_ID:4144126
18338387 SFTPC surfactant protein C gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:736728 D RGD:9068941 20211008 RGD DNA:polymorphism: :186A>G (human) PMID:18038590|REF_RGD_ID:4144115
18338387 SFTPC surfactant protein C gene DOID:3770 pulmonary fibrosis ISO RGD:736728 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:15039969|PMID:15293602|PMID:15572558|PMID:15756222|PMID:17597647|PMID:19443464|PMID:21092132|PMID:21707890|PMID:22308375|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28492532|PMID:31081264|PMID:33526882
18338387 SFTPC surfactant protein C gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:736728 D RGD:9068941 20211008 RGD DNA:polymorphisms: :p.M71V, p.I73T (human) PMID:20656946|REF_RGD_ID:4144060
18338387 SFTPC surfactant protein C gene DOID:3910 lung adenocarcinoma ISO RGD:736728 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25851810
18338387 SFTPC surfactant protein C gene DOID:423 myopathy ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal myopathy PMID:25741868
18338387 SFTPC surfactant protein C gene DOID:552 pneumonia ISO RGD:733829 D RGD:9068941 20211008 RGD PMID:15967375|REF_RGD_ID:4143394
18338387 SFTPC surfactant protein C gene DOID:630 genetic disease ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22308375
18338387 SFTPC surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:9068941 20211008 RGD Acute Lung Injury;mRNA:increased expression:pneumocyte PMID:8569184|REF_RGD_ID:4143451
18338387 SFTPC surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:9068941 20211008 RGD DNA:missense mutation:exon:p.I73T (human) PMID:16910460|REF_RGD_ID:4144117
18338387 SFTPC surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:9068941 20211008 RGD surfactant metabolism dysfunction SMDP2,OMIM:610913;DNA:point mutation:intron:460+1G>A (human) PMID:11207353|REF_RGD_ID:1624153
18338387 SFTPC surfactant protein C gene DOID:850 lung disease ISO RGD:737198 D RGD:9068941 20211008 RGD Lung Injury PMID:11796659|REF_RGD_ID:4143420
18338387 SFTPC surfactant protein C gene DOID:874 bacterial pneumonia ISO RGD:3666 D RGD:9068941 20211008 RGD PMID:12169586|REF_RGD_ID:4143464
18338387 SFTPC surfactant protein C gene DOID:874 bacterial pneumonia ISO RGD:733829 D RGD:9068941 20211008 RGD PMID:18566429|REF_RGD_ID:4144114
18338387 SFTPC surfactant protein C gene DOID:9000613 Hyaline Membrane Disease ISO RGD:736728 D RGD:9068941 20211008 RGD PMID:9655740|REF_RGD_ID:4143444
18338387 SFTPC surfactant protein C gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:733829 D RGD:9068941 20211008 RGD protein:decreased expression:lung PMID:14748931|REF_RGD_ID:4143407
18338387 SFTPC surfactant protein C gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 PMID:25741868
18338387 SFTPC surfactant protein C gene DOID:9003953 Surfactant Dysfunction ISO RGD:736728 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:11893657|PMID:14735158|PMID:15039969|PMID:15293602|PMID:15516475|PMID:15557112|PMID:15572558|PMID:15709974|PMID:15756222|PMID:17597647|PMID:18383112|PMID:19443464|PMID:19910179|PMID:20403820|PMID:20463293|PMID:20658481|PMID:21092132|PMID:21707890|PMID:22308375|PMID:22458263|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28157837|PMID:28492532|PMID:29805340|PMID:31081264|PMID:33526882
18338387 SFTPC surfactant protein C gene DOID:9004009 Reperfusion Injury ISO RGD:3666 D RGD:9068941 20211008 RGD mRNA:decreased expression:lung PMID:20560845|REF_RGD_ID:4144062
18338387 SFTPC surfactant protein C gene DOID:9005603 Muscle Hypotonia ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868
18338387 SFTPC surfactant protein C gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:736728 D RGD:7240710 20200205 OMIM
18338387 SFTPC surfactant protein C gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:736728 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 PMID:11207353|PMID:11893657|PMID:11991887|PMID:12538769|PMID:13817571|PMID:14735158|PMID:15039969|PMID:15293602|PMID:15516475|PMID:15572558|PMID:15647591|PMID:15709974|PMID:15756222|PMID:17005585|PMID:17597647|PMID:18383112|PMID:19443464|PMID:19910179|PMID:20118944|PMID:20403820|PMID:20656946|PMID:20658481|PMID:21092132|PMID:21707890|PMID:21828032|PMID:22308375|PMID:23025826|PMID:23166334|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25105258|PMID:25657025|PMID:25741868|PMID:25782673|PMID:27362365|PMID:28295039|PMID:28492532|PMID:29554876|PMID:29569581|PMID:31081264|PMID:33526882|PMID:34589332|PMID:5942662
18338387 SFTPC surfactant protein C gene DOID:9007480 Hyperoxia ISO RGD:3666 D RGD:9068941 20211008 RGD mRNA:increased expression:lung PMID:11472975|REF_RGD_ID:4143429
18338387 SFTPC surfactant protein C gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:736728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532
18338387 SFTPC surfactant protein C gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736728 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10751355
18338387 SFTPC surfactant protein C gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:736728 D RGD:9068941 20211008 RGD DNA:polymorphism: :138A>C, 186A>G (human) PMID:18038590|REF_RGD_ID:4144115
18338398 AADACL3 arylacetamide deacetylase like 3 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1602438 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:25741868
18338398 AADACL3 arylacetamide deacetylase like 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602438 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome
18338409 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1349836 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: ACSL6-related condition PMID:25741868
18338409 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349836 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
18338409 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:1240 leukemia ISO RGD:1349836 D RGD:9068941 20211008 RGD DNA:translocation: :t(5;12)(q31;p13) (human) PMID:10502316|REF_RGD_ID:1599805
18338409 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1349836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532
18338409 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:5419 schizophrenia ISO RGD:1349836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18338409 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:670 amphetamine abuse ISO RGD:1349836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18316681
18338409 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18338409 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9005372 Inflammation ISO RGD:69403 D RGD:9068941 20211008 RGD mRNA:increased expression:lumbar spinal cord (rat) PMID:14622223|REF_RGD_ID:2315920
18338409 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69403 D RGD:9068941 20211008 RGD mRNA:decreased expression:heart PMID:16428347|REF_RGD_ID:1599808
18338409 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
18338409 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349836 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
18338409 ACSL6 acyl-CoA synthetase long chain family member 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1349836 D RGD:9068941 20211008 RGD DNA:translocation: :t(5;12)(q31;p13) (human) PMID:10502316|REF_RGD_ID:1599805
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1314941 D RGD:9068941 20231116 RGD DNA:SNP:3���-UTR:G>T(rs1640299)(human) PMID:25495208|REF_RGD_ID:401900681
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1314941 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1314941 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:1059 intellectual disability ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:11198 DiGeorge syndrome ISO RGD:1314941 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:11372 megacolon ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:12583 velocardiofacial syndrome ISO RGD:1314941 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:12849 autistic disorder ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:150 disease of mental health ISO RGD:1314941 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18469815
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:1826 epilepsy ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:2154 nephroblastoma ISO RGD:1314941 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28825729
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:2213 hemorrhagic disease ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:5419 schizophrenia ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:612 primary immunodeficiency disease ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:9003871 Venous Thrombosis ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749
18338434 DGCR8 DGCR8 microprocessor complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18338452 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:1826 epilepsy ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362
18338452 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1314539 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18338452 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:769 neuroblastoma ISO RGD:1314539 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22941191
18338452 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9005075 Spastic Paraplegia and Psychomotor Retardation with or without Seizures ISO RGD:1314539 D RGD:7240710 20200205 OMIM
18338452 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9005075 Spastic Paraplegia and Psychomotor Retardation with or without Seizures ISO RGD:1314539 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: HACE1-related condition | ClinVar Annotator: match by term: Spastic paraplegia and psychomotor retardation with or without seizures PMID:25741868|PMID:26424145|PMID:26437029|PMID:28492532|PMID:30202406|PMID:32581362
18338452 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362
18338452 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362
18338516 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
18338516 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:0080600 COVID-19 ISO RGD:1344647 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18338516 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:1749 squamous cell carcinoma ISO RGD:1344647 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25194279
18338516 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:2717 Bloom syndrome ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
18338516 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:3151 skin squamous cell carcinoma ISO RGD:1344647 D RGD:9068941 20211008 RGD DNA:mutation:cds: p.Ala40Glu (human) PMID:30972880|REF_RGD_ID:28867225
18338516 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:3151 skin squamous cell carcinoma ISO RGD:1344647 D RGD:9068941 20211008 RGD DNA:mutation:cds: p.Ser24Phe(human) PMID:25194279|REF_RGD_ID:28867226
18338516 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:8866 actinic keratosis severity ISO RGD:1344647 D RGD:9068941 20211008 RGD DNA:mutation:cds: p.Ala40Glu (human) PMID:30972880|REF_RGD_ID:28867225
18338516 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1344647 D RGD:7240710 20210505 OMIM
18338516 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic PMID:19863561|PMID:29180244
18338516 KNSTRN kinetochore localized astrin (SPAG5) binding protein gene DOID:9256 colorectal cancer ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
18338534 CD9 CD9 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532
18338534 CD9 CD9 molecule gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732702 D RGD:9068941 20211008 RGD PMID:14534881|REF_RGD_ID:2326207
18338534 CD9 CD9 molecule gene DOID:1380 endometrial cancer ISO RGD:732702 D RGD:9068941 20211008 RGD PMID:11505398|REF_RGD_ID:2326208
18338534 CD9 CD9 molecule gene DOID:2394 ovarian cancer disease_progression ISO RGD:732702 D RGD:9068941 20211008 RGD protein:decreased expression, altered localization:ovary PMID:12079303|REF_RGD_ID:2289405
18338534 CD9 CD9 molecule gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:732702 D RGD:9068941 20211008 RGD DNA, mRNA:deletion, point mutation, decreased expression:prostate gland PMID:17406028|REF_RGD_ID:2326197
18338534 CD9 CD9 molecule gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:732702 D RGD:9068941 20211008 RGD protein:decreased expression:urinary bladder PMID:17393117|REF_RGD_ID:2289390
18338534 CD9 CD9 molecule gene DOID:2893 cervix carcinoma disease_progression ISO RGD:732702 D RGD:9068941 20211008 RGD PMID:14695144|REF_RGD_ID:2326206
18338534 CD9 CD9 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:732702 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168
18338534 CD9 CD9 molecule gene DOID:3068 glioblastoma ISO RGD:732702 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26573230
18338534 CD9 CD9 molecule gene DOID:3459 breast carcinoma disease_progression ISO RGD:732702 D RGD:9068941 20211008 RGD PMID:16132579|REF_RGD_ID:2326200
18338534 CD9 CD9 molecule gene DOID:3908 lung non-small cell carcinoma ISO RGD:732702 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17043644
18338534 CD9 CD9 molecule gene DOID:5082 liver cirrhosis ISO RGD:732702 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26396155
18338534 CD9 CD9 molecule gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732702 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16168501
18338534 CD9 CD9 molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:732702 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17013881
18338534 CD9 CD9 molecule gene DOID:9002955 Nerve Degeneration ISO RGD:732702 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19522546
18338534 CD9 CD9 molecule gene DOID:9007456 Female Infertility ISO RGD:732703 D RGD:9068941 20211008 RGD PMID:10634790|REF_RGD_ID:734730
18338534 CD9 CD9 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098
18338534 CD9 CD9 molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:732702 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:24836286
18338534 CD9 CD9 molecule gene DOID:9119 acute myeloid leukemia ISO RGD:732702 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17330099
18338546 LOC103248402 protein NPAT gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1323667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868
18338546 LOC103248402 protein NPAT gene DOID:1059 intellectual disability ISO RGD:1323667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18338546 LOC103248402 protein NPAT gene DOID:12704 ataxia telangiectasia ISO RGD:1323667 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532|PMID:31671381
18338546 LOC103248402 protein NPAT gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1323667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:0080475 psoriasis 2 ISO RGD:1345995 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: PSORIASIS 2 | ClinVar Annotator: match by term: Psoriasis 2 PMID:22521419|PMID:24033266|PMID:25741868|PMID:26203641|PMID:26255310|PMID:28492532|PMID:30018619|PMID:30697821|PMID:31971603|PMID:36174714|PMID:36221432
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1345995 D RGD:7240710 20200205 OMIM
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1345995 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:11793481|PMID:11903343|PMID:12000360|PMID:12438493|PMID:12490062|PMID:12702166|PMID:15146460|PMID:15542396|PMID:15637719|PMID:15902564|PMID:16174644|PMID:16199547|PMID:17128482|PMID:17576681|PMID:18254660|PMID:18407553|PMID:19099774|PMID:19383612|PMID:21061399|PMID:21204211|PMID:21228398|PMID:21393040|PMID:21455105|PMID:21671382|PMID:21910976|PMID:21963080|PMID:22002444|PMID:22976768|PMID:22976788|PMID:23084433|PMID:24314109|PMID:24347096|PMID:24576347|PMID:24816101|PMID:24875751|PMID:25113300|PMID:25557439|PMID:25741868|PMID:25807448|PMID:26075876|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27243974|PMID:27590925|PMID:27896117|PMID:28101780|PMID:28283807|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30070758|PMID:30593151|PMID:30809705|PMID:31536183|PMID:31718697|PMID:32036093|PMID:32214227|PMID:32447333|PMID:32581362|PMID:33673364|PMID:34047372|PMID:34690354|PMID:34813777|PMID:34991944|PMID:35291973|PMID:35848209|PMID:37597066|PMID:5542396|PMID:7493035|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9536098|PMID:9554748|PMID:9700599|PMID:9744479
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:1059 intellectual disability ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24576347|PMID:25741868|PMID:28492532|PMID:32214227|PMID:9285796
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:12798 mucopolysaccharidosis ISO RGD:1345995 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidoses | ClinVar Annotator: match by term: Mucopolysaccharidosis PMID:10521831|PMID:10601282|PMID:11182930|PMID:11343308|PMID:12490062|PMID:15146460|PMID:15542396|PMID:18407553|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:25741868|PMID:25807448|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:31718697|PMID:32581362|PMID:35291973|PMID:35848209|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1345995 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:12000360|PMID:12490062|PMID:15146460|PMID:15542396|PMID:18407553|PMID:19099774|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22002444|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:24875751|PMID:25557439|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1345995 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:12000360|PMID:12490062|PMID:12702166|PMID:15146460|PMID:15542396|PMID:18407553|PMID:19099774|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22002444|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:24875751|PMID:25557439|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1345995 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:12000360|PMID:12490062|PMID:12702166|PMID:15146460|PMID:15542396|PMID:18407553|PMID:19099774|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22002444|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:24875751|PMID:25113300|PMID:25557439|PMID:25741868|PMID:25807448|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:31718697|PMID:32581362|PMID:34047372|PMID:35291973|PMID:35848209|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:1289 neurodegenerative disease ISO RGD:1345995 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:25807448|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:29023963|PMID:30809705|PMID:31536183|PMID:31718697|PMID:32581362|PMID:35291973|PMID:35848209|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:13250 diarrhea ISO RGD:1345995 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:25807448|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31536183|PMID:31718697|PMID:32581362|PMID:35291973|PMID:35848209|PMID:9401012
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345995 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1345995 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:22521419|PMID:24033266|PMID:25741868|PMID:26203641|PMID:26255310|PMID:28492532|PMID:30018619|PMID:30387497|PMID:31971603|PMID:36174714|PMID:36221432
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:630 genetic disease ISO RGD:1345995 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:12000360|PMID:12490062|PMID:12702166|PMID:15146460|PMID:15542396|PMID:18407553|PMID:19099774|PMID:21061399|PMID:21204211|PMID:21228398|PMID:21910976|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24347096|PMID:24816101|PMID:25741868|PMID:25807448|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:29023963|PMID:30070758|PMID:30593151|PMID:30809705|PMID:31536183|PMID:34047372|PMID:34991944|PMID:5542396|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:8501 fundus dystrophy ISO RGD:1345995 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:25807448|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31536183|PMID:31718697|PMID:32581362|PMID:35291973|PMID:35848209|PMID:9401012
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:9005678 Familial Pityriasis Rubra Pilaris ISO RGD:1345995 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris--familial type PMID:22521419|PMID:25741868|PMID:28492532
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:9008086 Developmental Disabilities ISO RGD:1345995 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:25807448|PMID:26787381|PMID:27590925|PMID:28492532|PMID:29023963|PMID:31536183|PMID:31718697|PMID:32581362|PMID:35291973|PMID:35848209|PMID:7493035|PMID:9158154|PMID:9285796|PMID:9401012
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:9212 pityriasis rubra pilaris ISO RGD:1345995 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:16199547|PMID:17576681|PMID:22521419|PMID:24033266|PMID:25741868|PMID:26203641|PMID:26255310|PMID:28492532|PMID:30018619|PMID:30248356|PMID:30387497|PMID:30697821|PMID:30998217|PMID:31971603|PMID:36174714|PMID:36221432|PMID:9536098
18338568 SGSH N-sulfoglucosamine sulfohydrolase gene DOID:9650 pathologic nystagmus ISO RGD:1345995 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:25807448|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31536183|PMID:31718697|PMID:32581362|PMID:35291973|PMID:35848209|PMID:9401012
18338587 SCML4 Scm polycomb group protein like 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532
18338647 TTC29 tetratricopeptide repeat domain 29 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1605320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532
18338647 TTC29 tetratricopeptide repeat domain 29 gene DOID:0070183 spermatogenic failure 5 ISO RGD:1605320 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder PMID:25741868|PMID:31735292|PMID:31735294|PMID:36346162
18338647 TTC29 tetratricopeptide repeat domain 29 gene DOID:0111923 spermatogenic failure 42 ISO RGD:1605320 D RGD:7240710 20200226 OMIM
18338647 TTC29 tetratricopeptide repeat domain 29 gene DOID:0111923 spermatogenic failure 42 ISO RGD:1605320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 42 PMID:31735292|PMID:31735294
18338683 TGFBR3L transforming growth factor beta receptor 3 like gene DOID:0080490 mucolipidosis type IV ISO RGD:6770737 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532
18338683 TGFBR3L transforming growth factor beta receptor 3 like gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:6770737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532
18338699 STAM signal transducing adaptor molecule gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868
18338699 STAM signal transducing adaptor molecule gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1320313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532
18338724 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345627 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059
18338724 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis
18338724 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1345627 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059
18338724 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059
18338724 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1345627 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059
18338724 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345627 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059
18338724 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
18338724 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345627 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:14534157|PMID:19822871|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:27779742|PMID:28492532|PMID:30866059
18338724 ZBTB46 zinc finger and BTB domain containing 46 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868
18338757 DBP D-box binding PAR bZIP transcription factor gene DOID:11476 osteoporosis ISO RGD:733159 D RGD:9068941 20211008 RGD PMID:17002564|REF_RGD_ID:1625350
18338771 ELMOD2 ELMO domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1352550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555
18338814 CCDC152 coiled-coil domain containing 152 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:2298815 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532
18338814 CCDC152 coiled-coil domain containing 152 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:2298815 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532
18338814 CCDC152 coiled-coil domain containing 152 gene DOID:2513 basal cell carcinoma ISO RGD:2298815 D RGD:9068941 20240606 CTD CTD Direct Evidence: marker/mechanism PMID:36428691
18338814 CCDC152 coiled-coil domain containing 152 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2298815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1316230 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26192916
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:0080855 Parkinsonism ISO RGD:1307189 D RGD:9068941 20211008 RGD PMID:18534259|REF_RGD_ID:2302392
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:24140114|PMID:28492532
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1316230 D RGD:7240710 20200205 OMIM
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1316230 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 PMID:16199547|PMID:16303288|PMID:17576681|PMID:22013103|PMID:24033266|PMID:24140114|PMID:24702956|PMID:24888602|PMID:25237204|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:29921932|PMID:30697212|PMID:30941118|PMID:31417880|PMID:32506361|PMID:32888943|PMID:34619682|PMID:34975878|PMID:36703223|PMID:9536098
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1316231 D RGD:9068941 20211008 RGD PMID:20565293|REF_RGD_ID:40902858
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1316230 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:24140114|PMID:24702956|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:30941118
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1316230 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:24140114|PMID:24702956|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:30941118|PMID:30953794
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:630 genetic disease ISO RGD:1316230 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:649 prion disease ISO RGD:1316231 D RGD:9068941 20211008 RGD PMID:17573907|REF_RGD_ID:40902830
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:8929 atrophic gastritis ISO RGD:1316231 D RGD:9068941 20211008 RGD associated with Helicobacter Infections PMID:23975431|REF_RGD_ID:40902973
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:9001455 Intestinal Helminthiasis treatment ISO RGD:1316231 D RGD:9068941 20211008 RGD PMID:12370384|REF_RGD_ID:40902988
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1307189 D RGD:9068941 20211008 RGD protein:increased activity:striatum PMID:17250675|REF_RGD_ID:2302394
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:9004649 Heat Stroke ISO RGD:1316230 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:24039931
18338834 NFKB2 nuclear factor kappa B subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307189 D RGD:9068941 20211008 RGD PMID:18633731|REF_RGD_ID:2298775
18338879 LOC103235665 olfactory receptor 8U8 gene DOID:1059 intellectual disability ISO RGD:1353375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18338884 SYNGR1 synaptogyrin 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532
18338884 SYNGR1 synaptogyrin 1 gene DOID:10283 prostate cancer ISO RGD:736639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
18338884 SYNGR1 synaptogyrin 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:736639 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:28492532
18338884 SYNGR1 synaptogyrin 1 gene DOID:5419 schizophrenia ISO RGD:736639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868
18338884 SYNGR1 synaptogyrin 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736639 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26808113
18338884 SYNGR1 synaptogyrin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736639 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17330099
18338972 SUV39H2 SUV39H2 histone lysine methyltransferase gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1315884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868
18338972 SUV39H2 SUV39H2 histone lysine methyltransferase gene DOID:0080915 histiocytic sarcoma ISO RGD:1315884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:25741868
18338972 SUV39H2 SUV39H2 histone lysine methyltransferase gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1315884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:25741868|PMID:28492532
18338972 SUV39H2 SUV39H2 histone lysine methyltransferase gene DOID:9000954 Parakeratosis ISO RGD:12434198 D RGD:9068941 20230824 OMIA Nasal parakeratosis PMID:12662268|PMID:12895224|PMID:24098150|PMID:29423952|PMID:32119674|PMID:37582787
18339006 EMX2 empty spiracles homeobox 2 gene DOID:0050861 colorectal adenocarcinoma exacerbates ISO RGD:1322367 D RGD:9068941 20220811 RGD mRNA:decreased expression:colorectal mucosa (human) PMID:28830374|REF_RGD_ID:153323301
18339006 EMX2 empty spiracles homeobox 2 gene DOID:0111804 syndromic microphthalmia 11 ISO RGD:1322367 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 11 PMID:28492532
18339006 EMX2 empty spiracles homeobox 2 gene DOID:10534 stomach cancer ameliorates ISO RGD:1322367 D RGD:9068941 20220811 RGD human cells in mouse model PMID:23029345|REF_RGD_ID:153323292
18339006 EMX2 empty spiracles homeobox 2 gene DOID:3907 lung squamous cell carcinoma exacerbates ISO RGD:1322367 D RGD:9068941 20220812 RGD protein:decreased expression:lung (human) PMID:26132438|REF_RGD_ID:11079903
18339006 EMX2 empty spiracles homeobox 2 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1322367 D RGD:9068941 20220812 RGD mRNA,protein:decreased expression:lung (human) PMID:21726823|REF_RGD_ID:153323303
18339006 EMX2 empty spiracles homeobox 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1322367 D RGD:9068941 20220812 RGD protein:decreased expression:esophagus (human) PMID:31432154|REF_RGD_ID:153323302
18339006 EMX2 empty spiracles homeobox 2 gene DOID:630 genetic disease ISO RGD:1322367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
18339006 EMX2 empty spiracles homeobox 2 gene DOID:7474 malignant pleural mesothelioma exacerbates ISO RGD:1322367 D RGD:9068941 20220812 RGD mRNA:decreased expression:mesothelium of pleural cavity (human) PMID:25023662|REF_RGD_ID:153323312
18339006 EMX2 empty spiracles homeobox 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1322367 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16002989
18339006 EMX2 empty spiracles homeobox 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1322367 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20697358
18339006 EMX2 empty spiracles homeobox 2 gene DOID:9006637 Schizencephaly ISO RGD:1322367 D RGD:7240710 20200205 OMIM
18339006 EMX2 empty spiracles homeobox 2 gene DOID:9006637 Schizencephaly ISO RGD:1322367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizencephaly PMID:8528262|PMID:9359037
18339006 EMX2 empty spiracles homeobox 2 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1322367 D RGD:9068941 20220811 RGD human cells in mouse model PMID:27712600|REF_RGD_ID:153323291
18339017 SLC17A6 solute carrier family 17 member 6 gene DOID:0111533 gnathodiaphyseal dysplasia ISO RGD:730912 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia PMID:28492532
18339017 SLC17A6 solute carrier family 17 member 6 gene DOID:1059 intellectual disability ISO RGD:730912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18339017 SLC17A6 solute carrier family 17 member 6 gene DOID:224 transient cerebral ischemia ISO RGD:620531 D RGD:9068941 20211008 RGD PMID:23458738|REF_RGD_ID:9999193
18339017 SLC17A6 solute carrier family 17 member 6 gene DOID:8927 learning disability ISO RGD:730912 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21295146
18339017 SLC17A6 solute carrier family 17 member 6 gene DOID:9008023 Memory Disorders ISO RGD:730912 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21295146
18339033 LOC103247936 olfactory receptor 51S1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347151 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417
18339038 PRSS54 serine protease 54 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:3438752 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
18339038 PRSS54 serine protease 54 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:3438752 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
18339038 PRSS54 serine protease 54 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:3438752 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
18339038 PRSS54 serine protease 54 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:3438752 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868
18339071 CCZ1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated gene DOID:0070271 Lynch syndrome 1 ISO RGD:1315007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049
18339071 CCZ1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated gene DOID:3883 Lynch syndrome ISO RGD:1315007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:10037723|PMID:16338176|PMID:20533529|PMID:21618646|PMID:24440087|PMID:26318770|PMID:28492532
18339072 SV2B synaptic vesicle glycoprotein 2B gene DOID:10283 prostate cancer ISO RGD:1343420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
18339072 SV2B synaptic vesicle glycoprotein 2B gene DOID:12377 spinal muscular atrophy ISO RGD:1332062 D RGD:9068941 20211203 RGD protein:decreased expression:multiple (mouse) PMID:28173138|REF_RGD_ID:11535337
18339072 SV2B synaptic vesicle glycoprotein 2B gene DOID:557 kidney disease ISO RGD:1343420 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16943307
18339092 EPN1 epsin 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:619772 D RGD:9068941 20211008 RGD protein:increased degradation:brain PMID:19240038|REF_RGD_ID:13461853
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732211 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:25741868|PMID:26477325|PMID:28252636|PMID:28492532|PMID:28806457|PMID:29264397|PMID:29758562|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362|PMID:32954514|PMID:33951346
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:732211 D RGD:7240710 20200205 OMIM
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:732211 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 | ClinVar Annotator: match by term: KCNB1-related disorder PMID:17576681|PMID:19029374|PMID:25131622|PMID:25164438|PMID:25741868|PMID:26467025|PMID:26477325|PMID:26503721|PMID:26648591|PMID:27652284|PMID:27928161|PMID:28173649|PMID:28252636|PMID:28492532|PMID:28806457|PMID:29264397|PMID:29322350|PMID:29758562|PMID:30182498|PMID:31512327|PMID:31513310|PMID:3153310|PMID:31600826|PMID:31780880|PMID:31791873|PMID:32036363|PMID:32581362|PMID:32954514|PMID:33132203|PMID:33951346|PMID:34490615|PMID:34915430|PMID:35071126|PMID:35982159|PMID:8698327|PMID:9536098
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 exacerbates ISO RGD:732212 D RGD:9068941 20211008 RGD DNA:missense mutation:CDS:p.G379R (mouse) PMID:33132203|REF_RGD_ID:126908009
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 susceptibility ISO RGD:732211 D RGD:9068941 20211008 RGD DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human) PMID:28806457|REF_RGD_ID:126908008
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:1059 intellectual disability ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26477325|PMID:27652284|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362|PMID:32954514
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:12377 spinal muscular atrophy ISO RGD:732212 D RGD:9068941 20211008 RGD protein:decreased expression:second lumbar spinal cord segment, motor neuron, neuronal cell body (mouse) PMID:28504671|REF_RGD_ID:126908005
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:1826 epilepsy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:1826 epilepsy disease_progression ISO RGD:732212 D RGD:9068941 20211008 RGD PMID:24494598|REF_RGD_ID:126908006
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:1826 epilepsy susceptibility ISO RGD:732211 D RGD:9068941 20211008 RGD DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human) PMID:32954514|REF_RGD_ID:126908007
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:5419 schizophrenia ISO RGD:732211 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26240432
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:630 genetic disease ISO RGD:732211 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1881453|PMID:23705070|PMID:25164438|PMID:25741868|PMID:27652284|PMID:28252636|PMID:28492532|PMID:28806457|PMID:29264397|PMID:29758562|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32954514|PMID:33144682|PMID:33951346|PMID:8398157|PMID:8541859|PMID:9526001
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2954 D RGD:9068941 20211008 RGD protein:decreased expression:tibial nerve, motor neuron, neuronal cell body (rat) PMID:24355600|REF_RGD_ID:126908004
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:732211 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25164438|PMID:25741868|PMID:26477325|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:3153310|PMID:31600826|PMID:32581362|PMID:32954514
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:28492532
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:732211 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Myoclonic absence seizure PMID:25741868|PMID:26477325|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9007114 Mobility Limitation ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514
18339139 KCNB1 potassium voltage-gated channel subfamily B member 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:732211 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15088113
18339145 L3MBTL1 L3MBTL histone methyl-lysine binding protein 1 gene DOID:1612 breast cancer severity ISO RGD:1344736 D RGD:9068941 20211008 RGD mRNA:decreased expression:breast (human) PMID:21837478|REF_RGD_ID:9588606
18339145 L3MBTL1 L3MBTL histone methyl-lysine binding protein 1 gene DOID:2234 focal epilepsy ISO RGD:1344736 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362
18339145 L3MBTL1 L3MBTL histone methyl-lysine binding protein 1 gene DOID:630 genetic disease ISO RGD:1344736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
18339193 LYNX1 Ly6/neurotoxin 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1604308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532
18339193 LYNX1 Ly6/neurotoxin 1 gene DOID:4621 holoprosencephaly ISO RGD:1604308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532
18339193 LYNX1 Ly6/neurotoxin 1 gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:1604308 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835
18339214 NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1601990 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532
18339214 NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 gene DOID:0110251 cataract 15 multiple types ISO RGD:1601990 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Cataract 15 multiple types PMID:28492532
18339214 NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 gene DOID:607 paraplegia ISO RGD:1601990 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532
18339214 NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 gene DOID:6846 familial melanoma ISO RGD:1601990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532
18339214 NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1601990 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19192274
18339214 NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1601990 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532
18339222 RAB5B RAB5B, member RAS oncogene family gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:1315136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: RAB5B-associated surfactant dysfunction disorder PMID:25741868|PMID:35121658
18339232 QPCT glutaminyl-peptide cyclotransferase gene DOID:0080690 RASopathy ISO RGD:735639 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532
18339232 QPCT glutaminyl-peptide cyclotransferase gene DOID:1909 melanoma ISO RGD:735639 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17145863
18339232 QPCT glutaminyl-peptide cyclotransferase gene DOID:3042 allergic contact dermatitis ISO RGD:735639 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16033404
18339232 QPCT glutaminyl-peptide cyclotransferase gene DOID:813 septic arthritis ISO RGD:735640 D RGD:9068941 20211008 RGD PMID:23204180|REF_RGD_ID:41410433
18339232 QPCT glutaminyl-peptide cyclotransferase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735639 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23770605
18339264 FN1 fibronectin 1 gene DOID:0050855 renal fibrosis ISO RGD:10594 D RGD:9068941 20211008 RGD protein:increased expression:kidney: PMID:22052058|REF_RGD_ID:9068421
18339264 FN1 fibronectin 1 gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:736627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:15666313|PMID:1677003|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:33605604
18339264 FN1 fibronectin 1 gene DOID:0080600 COVID-19 ISO RGD:736627 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18339264 FN1 fibronectin 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:2624 D RGD:9068941 20211008 RGD protein:increased expression:kidney PMID:11025758|REF_RGD_ID:7206846
18339264 FN1 fibronectin 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:736627 D RGD:9068941 20211008 RGD DNA:polymorphism: : PMID:19616291|REF_RGD_ID:7206842
18339264 FN1 fibronectin 1 gene DOID:0110034 X-linked Alport syndrome ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:25741868|PMID:28492532
18339264 FN1 fibronectin 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:736627 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:cerebral cortex PMID:12621118|REF_RGD_ID:1358624
18339264 FN1 fibronectin 1 gene DOID:0112295 spondylometaphyseal dysplasia ISO RGD:736627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:15666313|PMID:1677003|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:33605604
18339264 FN1 fibronectin 1 gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:736627 D RGD:7240710 20200205 OMIM
18339264 FN1 fibronectin 1 gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:736627 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: FN1-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type PMID:12042895|PMID:1544672|PMID:15666313|PMID:1677003|PMID:18268355|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:33605604|PMID:7747733
18339264 FN1 fibronectin 1 gene DOID:10763 hypertension ISO RGD:2624 D RGD:9068941 20211008 RGD mRNA:increased expression:kidney (SHRSP/A3N rat) PMID:11682445|PMID:11907153|REF_RGD_ID:28912746|REF_RGD_ID:30296650
18339264 FN1 fibronectin 1 gene DOID:10763 hypertension ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:11682445|PMID:17324946
18339264 FN1 fibronectin 1 gene DOID:11054 urinary bladder cancer ISO RGD:736627 D RGD:9068941 20211008 RGD protein:increased expression:urine PMID:20012564|REF_RGD_ID:7205680
18339264 FN1 fibronectin 1 gene DOID:11372 megacolon ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
18339264 FN1 fibronectin 1 gene DOID:11713 diabetic angiopathy ISO RGD:2624 D RGD:9068941 20211008 RGD PMID:12716757|REF_RGD_ID:1601179
18339264 FN1 fibronectin 1 gene DOID:11758 iron deficiency anemia ISO RGD:2624 D RGD:9068941 20211008 RGD mRNA:increased expression:hippocampus: PMID:18723004|REF_RGD_ID:2301196
18339264 FN1 fibronectin 1 gene DOID:1184 nephrotic syndrome ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259
18339264 FN1 fibronectin 1 gene DOID:12897 submandibular gland disease ISO RGD:2624 D RGD:9068941 20211008 RGD PMID:19097859|REF_RGD_ID:7205460
18339264 FN1 fibronectin 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16191423
18339264 FN1 fibronectin 1 gene DOID:14679 VACTERL association ISO RGD:2624 D RGD:9068941 20211008 RGD protein:increased expression:embryo PMID:14986037|REF_RGD_ID:7205466
18339264 FN1 fibronectin 1 gene DOID:1591 renovascular hypertension ISO RGD:2624 D RGD:9068941 20211008 RGD PMID:17324142|REF_RGD_ID:7205461
18339264 FN1 fibronectin 1 gene DOID:1790 malignant mesothelioma ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23056237
18339264 FN1 fibronectin 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:2624 D RGD:9068941 20211008 RGD PMID:10082755|REF_RGD_ID:7206847
18339264 FN1 fibronectin 1 gene DOID:2921 glomerulonephritis disease_progression ISO RGD:736627 D RGD:9068941 20211008 RGD PMID:20484935|REF_RGD_ID:7206839
18339264 FN1 fibronectin 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:10594 D RGD:9068941 20211008 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231
18339264 FN1 fibronectin 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:736627 D RGD:9068941 20211008 RGD protein:increased expression:kidney PMID:15925904|REF_RGD_ID:7206844
18339264 FN1 fibronectin 1 gene DOID:3021 acute kidney failure ISO RGD:2624 D RGD:9068941 20211008 RGD PMID:12884040|REF_RGD_ID:7205684
18339264 FN1 fibronectin 1 gene DOID:3021 acute kidney failure ISO RGD:2624 D RGD:9068941 20211008 RGD protein:increased expression:kidney PMID:11768240|REF_RGD_ID:729934
18339264 FN1 fibronectin 1 gene DOID:305 carcinoma ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12376462
18339264 FN1 fibronectin 1 gene DOID:3068 glioblastoma ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17099729
18339264 FN1 fibronectin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26817844
18339264 FN1 fibronectin 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:736627 D RGD:9068941 20211008 RGD PMID:20860816|REF_RGD_ID:7205637
18339264 FN1 fibronectin 1 gene DOID:5199 ureteral obstruction ISO RGD:2624 D RGD:9068941 20211008 RGD PMID:12218318|REF_RGD_ID:7205473
18339264 FN1 fibronectin 1 gene DOID:5199 ureteral obstruction ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28318631
18339264 FN1 fibronectin 1 gene DOID:57 aortic valve insufficiency ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21216836
18339264 FN1 fibronectin 1 gene DOID:5844 myocardial infarction ISO RGD:2624 D RGD:9068941 20211008 RGD protein:decreased expression:heart PMID:19695229|REF_RGD_ID:2325720
18339264 FN1 fibronectin 1 gene DOID:630 genetic disease ISO RGD:736627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532|PMID:29100092
18339264 FN1 fibronectin 1 gene DOID:630 genetic disease ISO RGD:736627 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26968105|PMID:28166811|PMID:28492532|PMID:29100092|PMID:31328266|PMID:32200603|PMID:35836154
18339264 FN1 fibronectin 1 gene DOID:783 end stage renal disease ISO RGD:736627 D RGD:9068941 20211008 RGD protein:decreased expression:plasma PMID:6665521|REF_RGD_ID:7205701
18339264 FN1 fibronectin 1 gene DOID:784 chronic kidney disease ISO RGD:736627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532
18339264 FN1 fibronectin 1 gene DOID:8398 osteoarthritis ISO RGD:736627 D RGD:9068941 20211008 RGD protein:increased expression:cartilage: PMID:8646429|REF_RGD_ID:10402156
18339264 FN1 fibronectin 1 gene DOID:8778 Crohn's disease ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19751734
18339264 FN1 fibronectin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736627 D RGD:9068941 20211008 RGD PMID:20347014|REF_RGD_ID:7205459
18339264 FN1 fibronectin 1 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2624 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney cortex (rat) PMID:32416216|REF_RGD_ID:401793731
18339264 FN1 fibronectin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12376462
18339264 FN1 fibronectin 1 gene DOID:9000955 Acute Otitis Media ISO RGD:8845050 D RGD:9068941 20211008 RGD PMID:10453785|REF_RGD_ID:11556224
18339264 FN1 fibronectin 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:736627 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400
18339264 FN1 fibronectin 1 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:2624 D RGD:9068941 20211008 RGD PMID:12065530|REF_RGD_ID:7205474
18339264 FN1 fibronectin 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2624 D RGD:9068941 20211008 RGD mRNA:altered expression:liver (rat) PMID:15980055|REF_RGD_ID:1625201
18339264 FN1 fibronectin 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2624 D RGD:9068941 20211008 RGD mRNA:increased expression:liver: PMID:19914391|REF_RGD_ID:4140452
18339264 FN1 fibronectin 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2624 D RGD:9068941 20211008 RGD PMID:12651615|REF_RGD_ID:7205470
18339264 FN1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10594 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney PMID:16301823|REF_RGD_ID:7206843
18339264 FN1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:24413998
18339264 FN1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736627 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916
18339264 FN1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2624 D RGD:9068941 20211008 RGD protein:increased expression:kidney cortex: PMID:22736507|REF_RGD_ID:10402169
18339264 FN1 fibronectin 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:2624 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:heart: PMID:23383330|REF_RGD_ID:10402158
18339264 FN1 fibronectin 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18539642
18339264 FN1 fibronectin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18339264 FN1 fibronectin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:24014025
18339264 FN1 fibronectin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:11181017
18339264 FN1 fibronectin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12376462
18339264 FN1 fibronectin 1 gene DOID:9005563 Glomerulopathy with Giant Fibrillar Deposits ISO RGD:736627 D RGD:7240710 20200205 OMIM
18339264 FN1 fibronectin 1 gene DOID:9005563 Glomerulopathy with Giant Fibrillar Deposits ISO RGD:736627 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 PMID:12042895|PMID:1544672|PMID:17576681|PMID:18268355|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:36774238|PMID:7564073|PMID:7747733|PMID:9536098
18339264 FN1 fibronectin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2624 D RGD:9068941 20211008 RGD protein:increased expression:kidney PMID:22937115|REF_RGD_ID:7206838
18339264 FN1 fibronectin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2624 D RGD:9068941 20211008 RGD PMID:22228707|REF_RGD_ID:7296926
18339264 FN1 fibronectin 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2624 D RGD:9068941 20211008 RGD PMID:11352844|REF_RGD_ID:7205629
18339264 FN1 fibronectin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:24014025
18339264 FN1 fibronectin 1 gene DOID:9008691 Liver Injury ISO RGD:2624 D RGD:9068941 20211008 RGD PMID:7806580|REF_RGD_ID:7205469
18339264 FN1 fibronectin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:24014025
18339264 FN1 fibronectin 1 gene DOID:9351 diabetes mellitus ISO RGD:736627 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20551625
18339264 FN1 fibronectin 1 gene DOID:9351 diabetes mellitus ISO RGD:736627 D RGD:9068941 20211008 RGD protein:increased expression:plasma PMID:11213886|REF_RGD_ID:7206845
18339264 FN1 fibronectin 1 gene DOID:936 brain disease ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868
18339264 Fn1 fibronectin 1 gene DOID:9006302 Binge Drinking ISO RGD:2624 D RGD:9068941 20250130 RGD mRNA:increased expression:frontal cortex PMID:23867237|REF_RGD_ID:597538460
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:732873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:621032 D RGD:9068941 20211008 RGD PMID:27939985|REF_RGD_ID:15036816
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:1561 cognitive disorder ISO RGD:732873 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29382564
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:1852 intrahepatic cholestasis ISO RGD:621032 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:liver PMID:18578998|REF_RGD_ID:2311605
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:3883 Lynch syndrome ISO RGD:732873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:11136233|PMID:20233523|PMID:28492532|PMID:33094510
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:3883 Lynch syndrome ISO RGD:732873 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732873 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23811326
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732873 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17072980
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9002661 Diabetes Complications ISO RGD:732873 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29382564
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732873 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:29943110
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9351 diabetes mellitus ISO RGD:621032 D RGD:9068941 20211008 RGD mRNA:increased expression:pancreatic islet PMID:17259388|REF_RGD_ID:2311606
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732873 D RGD:9068941 20211008 RGD DNA:polymorphisms: :multiple PMID:18781616|REF_RGD_ID:2311604
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9452 steatotic liver disease ISO RGD:732873 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27664470
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9455 lipid storage disease ISO RGD:732873 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9970 obesity ISO RGD:732873 D RGD:7240710 20200205 OMIM
18339341 NR0B2 nuclear receptor subfamily 0 group B member 2 gene DOID:9970 obesity ISO RGD:732873 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: NR0B2-related condition | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510
18339347 PRSS36 serine protease 36 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1604524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868
18339347 PRSS36 serine protease 36 gene DOID:12930 dilated cardiomyopathy ISO RGD:1604524 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0050777 Joubert syndrome ISO RGD:1625089 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0050778 Meckel syndrome ISO RGD:1625089 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0070115 Meckel syndrome 1 ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:28492532
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0070115 Meckel syndrome 1 ISO RGD:1625089 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:25741868|PMID:28492532
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1305121 D RGD:9068941 20230706 RGD mRNA, protein:increased expression:liver PMID:23329013|REF_RGD_ID:329951008
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1625089 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0080334 aortic valve disease 2 sexual_dimorphism ISO RGD:1625089 D RGD:9068941 20230525 RGD DNA:SNP: :rs9939609 (human) PMID:26431034|REF_RGD_ID:11251377
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0081292 traumatic brain injury ISO RGD:1305121 D RGD:9068941 20230708 RGD mRNA:decreased expression:cerebral cortex PMID:31992337|REF_RGD_ID:329901857
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0110980 Joubert syndrome 1 ISO RGD:1625089 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:17558409|PMID:28492532
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0110980 Joubert syndrome 1 ISO RGD:1625089 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:17558409|PMID:25741868|PMID:28492532
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0111112 nephronophthisis 1 ISO RGD:1625089 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:10325 silicosis ISO RGD:1625089 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:37979906
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:10763 hypertension ISO RGD:1621572 D RGD:9068941 20230525 RGD associated with Obesity PMID:31801409|REF_RGD_ID:329812016
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:10763 hypertension ISO RGD:1625089 D RGD:9068941 20230622 RGD DNA:SNP:intron:rs9302652 (human) PMID:20031594|REF_RGD_ID:329901765
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:10825 essential hypertension ISO RGD:1346162 D RGD:9068941 20230608 RGD DNA:SNP: :rs8050136 (human) PMID:23691120|REF_RGD_ID:329845889
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:11446 sciatic neuropathy ISO RGD:1305121 D RGD:9068941 20230708 RGD PMID:33829413|PMID:36545239|REF_RGD_ID:329951012|REF_RGD_ID:329951014
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:12712 nephronophthisis ISO RGD:1625089 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:1287 cardiovascular system disease sexual_dimorphism ISO RGD:1625089 D RGD:9068941 20230622 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs9939609 (human) PMID:20400278|REF_RGD_ID:329901763
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:13963 nuclear senile cataract ISO RGD:1625089 D RGD:9068941 20230608 RGD DNA:SNP: :rs9939609 (human) PMID:19329528|REF_RGD_ID:329845885
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:1909 melanoma ISO RGD:1625089 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23455637
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:1936 atherosclerosis sexual_dimorphism ISO RGD:733604 D RGD:9068941 20230525 RGD PMID:28253220|REF_RGD_ID:329812017
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:224 transient cerebral ischemia ISO RGD:1305121 D RGD:9068941 20230622 RGD protein:decreased expression:cerebral cortex PMID:32426101|REF_RGD_ID:329901764
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:224 transient cerebral ischemia ISO RGD:1305121 D RGD:9068941 20230708 RGD mRNA:decreased expression:cerebral cortex PMID:36479246|REF_RGD_ID:329951019
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:224 transient cerebral ischemia ISO RGD:1621572 D RGD:9068941 20230622 RGD mRNA:decreased expression:heart PMID:34413770|REF_RGD_ID:329901768
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:3393 coronary artery disease ISO RGD:1625089 D RGD:9068941 20230525 RGD DNA:SNP: :rs9939609 (human) PMID:24622111|REF_RGD_ID:329812039
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:3393 coronary artery disease ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP:intron:rs9939609 (human) PMID:28167353|REF_RGD_ID:329901772
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:4450 renal cell carcinoma treatment ISO RGD:1625089 D RGD:9068941 20230520 RGD PMID:30648791|REF_RGD_ID:329812005
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1625089 D RGD:9068941 20230520 RGD mRNA:increased expression:kidney PMID:32817424|REF_RGD_ID:329812006
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:1625089 D RGD:9068941 20230520 RGD mRNA:decreased expression:kidney PMID:30648791|REF_RGD_ID:329812005
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:4467 clear cell renal cell carcinoma treatment ISO RGD:1625089 D RGD:9068941 20230520 RGD PMID:32817424|REF_RGD_ID:329812006
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:5844 myocardial infarction ISO RGD:1621572 D RGD:9068941 20230520 RGD mRNA, protein:decreased expression:heart PMID:29997116|REF_RGD_ID:329812009
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:5844 myocardial infarction ISO RGD:1625089 D RGD:9068941 20230622 RGD associated with type 2 diabetes mellitus;DNA:SNP:intron:rs9939609 (human) PMID:20031593|REF_RGD_ID:329901766
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:5844 myocardial infarction ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP: :rs17817449 (human) PMID:26772723|REF_RGD_ID:11555187
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:5844 myocardial infarction treatment ISO RGD:1621572 D RGD:9068941 20230520 RGD PMID:29997116|REF_RGD_ID:329812009
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:6000 congestive heart failure ISO RGD:1621572 D RGD:9068941 20230629 RGD mRNA:increased expression:heart PMID:33748197|REF_RGD_ID:329901854
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:6000 congestive heart failure ISO RGD:1625089 D RGD:9068941 20230520 RGD mRNA, protein:decreased expression:heart PMID:29997116|REF_RGD_ID:329812009
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:6000 congestive heart failure ISO RGD:1625089 D RGD:9068941 20230629 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:33748197|REF_RGD_ID:329901854
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:6000 congestive heart failure treatment ISO RGD:1621572 D RGD:9068941 20230525 RGD PMID:34728610|REF_RGD_ID:329812038
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:6000 congestive heart failure treatment ISO RGD:1621572 D RGD:9068941 20230629 RGD protein:increased expression:heart PMID:36120562|REF_RGD_ID:329901853
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:630 genetic disease ISO RGD:1625089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:7693 abdominal aortic aneurysm ISO RGD:1625089 D RGD:9068941 20230629 RGD mRNA, protein:altered expression:aorta PMID:32042813|REF_RGD_ID:329901855
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9000528 Coronary Disease ISO RGD:1625089 D RGD:9068941 20230622 RGD DNA:SNP: :rs9939609 (human) PMID:26555680|REF_RGD_ID:11555922
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9001686 Acute Coronary Syndrome susceptibility ISO RGD:1625089 D RGD:9068941 20230525 RGD DNA:SNP: :rs17817449 (human) PMID:20362563|REF_RGD_ID:329813083
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1305121 D RGD:9068941 20230608 RGD protein:decreased expression:lung PMID:34310344|REF_RGD_ID:329845886
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002165 Diabetic Nephropathies ISO RGD:1625089 D RGD:9068941 20230629 RGD associated with type 2 diabetes mellitus;DNA:SNPs: :rs1121980, rs1421085, rs17817449 (human) PMID:29410390|REF_RGD_ID:329901856
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1625089 D RGD:9068941 20230525 RGD associated with diabetes mellitus;DNA:SNP: :rs17817449 (human) PMID:29154870|REF_RGD_ID:329813082
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1625089 D RGD:9068941 20230525 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs7204609 (human) PMID:34134115|REF_RGD_ID:329813084
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002211 Hyperalgesia treatment ISO RGD:1621572 D RGD:9068941 20230520 RGD associated with Cerebral Hemorrhage PMID:34102854|REF_RGD_ID:329812008
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002231 Fetal Growth Retardation ISO RGD:1305121 D RGD:9068941 20230713 RGD mRNA:decreased expression:placenta PMID:25054679|REF_RGD_ID:329955538
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002231 Fetal Growth Retardation ISO RGD:1625089 D RGD:9068941 20230713 RGD mRNA:decreased expression:chorionic villus PMID:25054679|REF_RGD_ID:329955538
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002371 Cardiotoxicity ISO RGD:1305121 D RGD:9068941 20230708 RGD DNA:hypermethylation:promoter PMID:35462195|REF_RGD_ID:329951017
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1621572 D RGD:9068941 20230520 RGD protein:increased expression:thalamic complex PMID:34102854|REF_RGD_ID:329812008
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9003081 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death ISO RGD:1625089 D RGD:7240710 20250129 OMIM
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9003081 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death ISO RGD:1625089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death PMID:19559399|PMID:19833892|PMID:20299471|PMID:23505181|PMID:23825611|PMID:24289790|PMID:25741868|PMID:26378117|PMID:26820768|PMID:27105045|PMID:28492532
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9003505 Venous Thromboembolism ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP: :rs1558902 (human) PMID:28528403|REF_RGD_ID:329901775
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9003505 Venous Thromboembolism sexual_dimorphism ISO RGD:1625089 D RGD:9068941 20230525 RGD DNA:SNP: :rs9939609 (human) PMID:29325734|REF_RGD_ID:329812019
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9003507 Premature Birth ISO RGD:1625089 D RGD:9068941 20230608 RGD DNA:SNP: :rs9939609 (human) PMID:27768255|REF_RGD_ID:329845883
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9004581 Pediatric Obesity ISO RGD:1625089 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25137265
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9004581 Pediatric Obesity treatment ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP: :rs17817449 (human) PMID:26849546|REF_RGD_ID:11054066
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9004657 Weight Gain ISO RGD:1625089 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25322899
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9005298 heart transplant rejection ISO RGD:1625089 D RGD:9068941 20230608 RGD DNA:SNP: :rs17817449 (human) PMID:30408245|REF_RGD_ID:329845888
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9006411 Testicular Injury ISO RGD:1305121 D RGD:9068941 20230708 RGD mRNA:decreased expression:testis PMID:31923814|REF_RGD_ID:329951021
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9006646 Metabolic Syndrome ISO RGD:1625089 D RGD:9068941 20230622 RGD DNA:SNPs: :rs1421085, rs1558902, rs8050136, rs9939609 (human) PMID:21796137|REF_RGD_ID:329853776
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9006646 Metabolic Syndrome ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP: :rs9939973 (human) PMID:32061761|REF_RGD_ID:329901771
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9006778 Carotid Atherosclerosis ISO RGD:1625089 D RGD:9068941 20230629 RGD DNA:SNP:intron:rs9937354 (human) PMID:36894991|REF_RGD_ID:329901850
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9007633 Body Weight ISO RGD:1625089 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9007692 Insulin Resistance ISO RGD:1305121 D RGD:9068941 20230708 RGD mRNA, protein:increased expression:liver PMID:35945320|REF_RGD_ID:329951016
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9007692 Insulin Resistance ISO RGD:1625089 D RGD:9068941 20230525 RGD associated with diabetes mellitus;DNA:SNP: :rs9939609 (human) PMID:30273662|REF_RGD_ID:329812018
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9007692 Insulin Resistance ISO RGD:1625089 D RGD:9068941 20230525 RGD associated with obesity;DNA:SNP:intron:rs17817449 (human) PMID:21919686|REF_RGD_ID:329812040
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9007692 Insulin Resistance ISO RGD:1625089 D RGD:9068941 20230622 RGD DNA:SNPs, haplotype: :rs1121980, rs1558902, rs9939609 (human) PMID:20075932|REF_RGD_ID:329853775
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9008091 Optic Nerve Injuries ISO RGD:1305121 D RGD:9068941 20230708 RGD mRNA:increased expression:retina PMID:33664770|REF_RGD_ID:329951020
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1625089 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9008939 Breast Neoplasms ISO RGD:1625089 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23535733
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1305121 D RGD:9068941 20230708 RGD mRNA:increased expression:blood PMID:25303482|REF_RGD_ID:329951010
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1625089 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23104008
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1625089 D RGD:9068941 20230622 RGD DNA:SNP: :rs9939609 (human) PMID:21294771|REF_RGD_ID:329901762
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP: :rs1421085 (human) PMID:32061761|REF_RGD_ID:329901771
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP:intron:rs9939609 (human) PMID:28890888|REF_RGD_ID:329901773
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1625089 D RGD:9068941 20230708 RGD mRNA:increased expression:blood PMID:25303482|REF_RGD_ID:329951010
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1625089 D RGD:9068941 20230629 RGD DNA:SNPs: :multiple PMID:29410390|REF_RGD_ID:329901856
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1625089 D RGD:9068941 20230525 RGD DNA:SNP: :rs17817449 (human) PMID:29154870|REF_RGD_ID:329813082
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9408 acute myocardial infarction ISO RGD:1625089 D RGD:9068941 20230629 RGD mRNA:increased expression:blood PMID:35693610|REF_RGD_ID:329901852
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9477 pulmonary embolism ISO RGD:1625089 D RGD:9068941 20230624 RGD associated with Venous Thrombosis;DNA:SNP:intron:rs9939609 (human) PMID:25161014|REF_RGD_ID:329901770
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9538 multiple myeloma ISO RGD:1625089 D RGD:9068941 20230622 RGD mRNA:increased expression:bone marrow PMID:34274946|REF_RGD_ID:329901767
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:1625089 D RGD:9068941 20230525 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs17817449 (human) PMID:29154870|REF_RGD_ID:329813082
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9849 Meniere's disease ISO RGD:1625089 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:19833892|PMID:25741868|PMID:28492532
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1305121 D RGD:9068941 20240125 RGD mRNA, protein:increased expression:liver PMID:35945320|REF_RGD_ID:329951016
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1305121 D RGD:9068941 20240125 RGD mRNA:increased expression:pancreas PMID:32420297|REF_RGD_ID:329951013
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:9068941 20240125 CTD CTD Direct Evidence: marker/mechanism PMID:17496892|PMID:19079260|PMID:19079261|PMID:19151714|PMID:19918250|PMID:21076408
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:9068941 20240125 RGD DNA:SNP: :rs9939609 (human) PMID:23111453|REF_RGD_ID:329812010
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:9068941 20240125 RGD DNA:SNP:intron:rs17817449 (human) PMID:21919686|REF_RGD_ID:329812040
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:9068941 20240125 RGD DNA:SNP:intron:rs9939609 (human) PMID:23134754|REF_RGD_ID:329812007
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:9068941 20240125 RGD DNA:SNPs: :rs9939609, rs1421085, rs17817449 (human) PMID:29540276|REF_RGD_ID:329845887
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:736192 D RGD:9068941 20240125 RGD DNA:SNP: :rs3751812 (human) PMID:25606423|REF_RGD_ID:329901774
18339369 FTO FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity severity ISO RGD:1625089 D RGD:9068941 20230525 RGD PMID:31801409|REF_RGD_ID:329812016
18339387 KIF21B kinesin family member 21B gene DOID:0050453 lissencephaly ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrogyria PMID:25741868
18339387 KIF21B kinesin family member 21B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1343896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532
18339387 KIF21B kinesin family member 21B gene DOID:1540 parathyroid carcinoma ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18339387 KIF21B kinesin family member 21B gene DOID:2843 long QT syndrome ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555
18339387 KIF21B kinesin family member 21B gene DOID:8577 ulcerative colitis ISO RGD:1343896 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20228799
18339387 KIF21B kinesin family member 21B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1343896 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532
18339387 KIF21B kinesin family member 21B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343896 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: KIF21B-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32415109|PMID:39033378
18339387 KIF21B kinesin family member 21B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18339437 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545
18339437 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1318899 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835
18339437 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1318899 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835
18339437 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:10283 prostate cancer ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
18339437 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:1059 intellectual disability ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18339437 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:11198 DiGeorge syndrome ISO RGD:1318899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362
18339437 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:11372 megacolon ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
18339437 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:12583 velocardiofacial syndrome ISO RGD:1318899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868
18339437 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:12849 autistic disorder ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18339437 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:1826 epilepsy ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy
18339437 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:2213 hemorrhagic disease ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749
18339437 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:5419 schizophrenia ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18339437 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:612 primary immunodeficiency disease ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868
18339437 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:9003871 Venous Thrombosis ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749
18339437 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18339470 RIMS4 regulating synaptic membrane exocytosis 4 gene DOID:2234 focal epilepsy ISO RGD:1350639 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362
18339470 RIMS4 regulating synaptic membrane exocytosis 4 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1350639 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
18339470 RIMS4 regulating synaptic membrane exocytosis 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350639 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
18339485 RXYLT1 ribitol xylosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1319660 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:23217329|PMID:23519211|PMID:24033266|PMID:25741868|PMID:27733679|PMID:28492532
18339485 RXYLT1 ribitol xylosyltransferase 1 gene DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 ISO RGD:1319660 D RGD:7240710 20200205 OMIM
18339485 RXYLT1 ribitol xylosyltransferase 1 gene DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 ISO RGD:1319660 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | ClinVar Annotator: match by term: RXYLT1-related condition PMID:16199547|PMID:17576681|PMID:23217329|PMID:23519211|PMID:24033266|PMID:25640679|PMID:25741868|PMID:27733679|PMID:28492532|PMID:30017359|PMID:31742715|PMID:34490615|PMID:36344539|PMID:9536098
18339485 RXYLT1 ribitol xylosyltransferase 1 gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1319660 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D PMID:20232353|PMID:28492532
18339485 RXYLT1 ribitol xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319660 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:30017359|PMID:36344539|PMID:9536098
18339538 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0060250 idiopathic scoliosis ISO RGD:733345 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Idiopathic scoliosis PMID:25741868|PMID:28492532|PMID:29240829
18339538 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0060373 orofaciodigital syndrome III ISO RGD:733345 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome III PMID:27894351|PMID:28492532
18339538 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0080365 endometrial hyperplasia ISO RGD:733345 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22248470
18339538 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:733345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532
18339538 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:10908 hydrocephalus ISO RGD:736028 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219
18339538 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:12849 autistic disorder ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18339538 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:3393 coronary artery disease ISO RGD:733345 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328
18339538 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891
18339538 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753
18339576 STARD3 StAR related lipid transfer domain containing 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347857 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:17592021
18339626 ZC2HC1B zinc finger C2HC-type containing 1B gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1349089 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532
18339652 MASTL microtubule associated serine/threonine kinase like gene DOID:1588 thrombocytopenia ISO RGD:1319386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532
18339652 MASTL microtubule associated serine/threonine kinase like gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1319386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 2 PMID:10891439|PMID:12890928|PMID:19460416|PMID:22102272|PMID:25741868|PMID:28492532
18339652 MASTL microtubule associated serine/threonine kinase like gene DOID:9005280 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities ISO RGD:1319386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities PMID:25741868
18339679 HOMEZ homeobox and leucine zipper encoding gene DOID:0060439 lysinuric protein intolerance ISO RGD:735425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532
18339679 HOMEZ homeobox and leucine zipper encoding gene DOID:9000265 Specific Granule Deficiency ISO RGD:735425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532
18339679 HOMEZ homeobox and leucine zipper encoding gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735425 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868
18339698 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:0014667 disease of metabolism susceptibility ISO RGD:735913 D RGD:9068941 20211008 RGD familial hypercholanemia, OMIM:607748;DNA:transition: :226A>G (human) PMID:12704386|REF_RGD_ID:734629
18339698 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735913 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:17182750|PMID:20301541
18339698 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:1059 intellectual disability ISO RGD:735913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18339698 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532
18339698 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9004162 BILE ACID CONJUGATION DEFECT 1 ISO RGD:735913 D RGD:7240710 20210512 OMIM
18339698 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9004162 BILE ACID CONJUGATION DEFECT 1 ISO RGD:735913 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: BAAT-related condition | ClinVar Annotator: match by term: Bile acid conjugation defect 1 PMID:12704386|PMID:17495420|PMID:23415802|PMID:25741868|PMID:28492532
18339698 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9004484 Sepsis ISO RGD:2190 D RGD:9068941 20211008 RGD PMID:7575455|REF_RGD_ID:69770
18339698 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:735913 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 PMID:17495420|PMID:24033266|PMID:25741868|PMID:28492532
18339698 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9007118 Familial Hypercholanemia ISO RGD:735913 D RGD:8554872 20240326 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial PMID:28492532
18339698 BAAT bile acid-CoA:amino acid N-acyltransferase gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:735913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532
18339707 FFAR1 free fatty acid receptor 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:736481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532
18339707 FFAR1 free fatty acid receptor 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532
18339707 FFAR1 free fatty acid receptor 1 gene DOID:543 dystonia ISO RGD:736481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362
18339707 FFAR1 free fatty acid receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736481 D RGD:9068941 20211015 RGD PMID:19758793|REF_RGD_ID:2315761
18339707 FFAR1 free fatty acid receptor 1 gene DOID:9352 type 2 diabetes mellitus ameliorates ISO RGD:736481 D RGD:9068941 20211015 RGD PMID:19401434|REF_RGD_ID:150517551
18339716 RELL2 RELT like 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313209 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
18339716 RELL2 RELT like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18339716 RELL2 RELT like 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313209 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
18339747 ATP5F1E ATP synthase F1 subunit epsilon gene DOID:0050752 amyotrophic lateral sclerosis type 8 ISO RGD:1346801 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 PMID:28492532
18339747 ATP5F1E ATP synthase F1 subunit epsilon gene DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ISO RGD:1346801 D RGD:7240710 20200205 OMIM
18339747 ATP5F1E ATP synthase F1 subunit epsilon gene DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ISO RGD:1346801 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: ATP5F1E-related condition | ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 PMID:20566710|PMID:25741868|PMID:28492532|PMID:34954817
18339747 ATP5F1E ATP synthase F1 subunit epsilon gene DOID:9000392 Fluoride Poisoning ISO RGD:621374 D RGD:9068941 20211008 RGD mRNA:decreased expression:heart, mitochondrion (rat) PMID:21251948|REF_RGD_ID:5131501
18339754 GSKIP GSK3B interacting protein gene DOID:0070004 myeloid neoplasm ISO RGD:1318256 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26280900
18339754 GSKIP GSK3B interacting protein gene DOID:2224 essential thrombocythemia ISO RGD:1318256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1
18339754 GSKIP GSK3B interacting protein gene DOID:4971 myelofibrosis ISO RGD:1318256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis
18339754 GSKIP GSK3B interacting protein gene DOID:8692 myeloid leukemia ISO RGD:1318256 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26280900
18339754 GSKIP GSK3B interacting protein gene DOID:9119 acute myeloid leukemia ISO RGD:1318256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0001816 angiosarcoma ISO RGD:1314242 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:24633157
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0001816 angiosarcoma ISO RGD:1314242 D RGD:9068941 20220303 RGD DNA:mutations:multiple (human) PMID:24633157|REF_RGD_ID:151361292
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0001816 angiosarcoma ISO RGD:1314242 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:26440310|REF_RGD_ID:151665099
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0060108 brain glioma ISO RGD:1314242 D RGD:9068941 20220310 RGD human cell in mouse model PMID:16923162|REF_RGD_ID:151660368
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0060108 brain glioma ISO RGD:1314242 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:33900414|REF_RGD_ID:151660356
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0080199 colorectal carcinoma ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:increased expression:colon (human) PMID:31040266|REF_RGD_ID:151361283
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:1115 sarcoma treatment ISO RGD:1314242 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:14400 capillary leak syndrome treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD mouse tumor cells in mouse recipient PMID:31348125|REF_RGD_ID:151660353
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3068 glioblastoma ISO RGD:1314242 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:14692702|PMID:15831233|REF_RGD_ID:151660507|REF_RGD_ID:151664746
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3068 glioblastoma treatment ISO RGD:1314242 D RGD:9068941 20220310 RGD human cells in mouse model PMID:16489031|REF_RGD_ID:151660504
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3307 teratoma ISO RGD:1552328 D RGD:9068941 20220310 RGD PMID:23575676|REF_RGD_ID:151660354
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3347 osteosarcoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:bone (human) PMID:31829261|REF_RGD_ID:151361289
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD protein:decreased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314242 D RGD:9068941 20220303 RGD human cells in mouse model PMID:27314562|REF_RGD_ID:151361281
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:27314562|REF_RGD_ID:151361281
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3910 lung adenocarcinoma ISO RGD:1314242 D RGD:9068941 20220310 RGD mRNA:decreased expression:lung (human) PMID:7981622|REF_RGD_ID:151665112
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220310 RGD mRNA:altered expression:lung (human) PMID:29254206|REF_RGD_ID:151665107
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1314242 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:4511 breast angiosarcoma ISO RGD:1314242 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:32123305|REF_RGD_ID:151665102
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:liver (human) PMID:30237408|REF_RGD_ID:151361293
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD PMID:23899555|REF_RGD_ID:151660352
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:9006608 Lung Carcinoid Tumors severity ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:25105010|REF_RGD_ID:151660336
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:9006618 Liver Metastasis treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD mouse tumor cells in mouse recipient PMID:31348125|REF_RGD_ID:151660353
18339765 PTPRB protein tyrosine phosphatase receptor type B gene DOID:9009121 lung metastasis treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD PMID:23899555|REF_RGD_ID:151660352
18339811 KYNU kynureninase gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome
18339811 KYNU kynureninase gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792
18339811 KYNU kynureninase gene DOID:0081122 Catel Manzke syndrome ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME PMID:25741868|PMID:31923704|PMID:33942433
18339811 KYNU kynureninase gene DOID:0112257 hydroxykynureninuria ISO RGD:734173 D RGD:7240710 20200205 OMIM
18339811 KYNU kynureninase gene DOID:0112257 hydroxykynureninuria ISO RGD:734173 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Hydroxykynureninuria | ClinVar Annotator: match by term: KYNU-related condition PMID:17334708|PMID:25741868|PMID:28492532
18339811 KYNU kynureninase gene DOID:10763 hypertension ISO RGD:71061 D RGD:9068941 20211008 RGD PMID:11924719|REF_RGD_ID:631322
18339811 KYNU kynureninase gene DOID:1289 neurodegenerative disease ISO RGD:734173 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16365156
18339811 KYNU kynureninase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734173 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
18339811 KYNU kynureninase gene DOID:9003412 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 ISO RGD:734173 D RGD:7240710 20200205 OMIM
18339811 KYNU kynureninase gene DOID:9003412 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 ISO RGD:734173 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 2 PMID:11204305|PMID:17334708|PMID:22012986|PMID:25741868|PMID:28492532|PMID:28792876|PMID:31923704|PMID:33942433|PMID:34200361
18339811 KYNU kynureninase gene DOID:9005372 Inflammation ISO RGD:734173 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16365156
18339842 BBOX1 gamma-butyrobetaine hydroxylase 1 gene DOID:1059 intellectual disability ISO RGD:732171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18339842 BBOX1 gamma-butyrobetaine hydroxylase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732171 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
18339899 RPL24 ribosomal protein L24 gene DOID:5723 optic atrophy ISO RGD:731427 D RGD:9068941 20220825 MouseDO OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708
18339899 RPL24 ribosomal protein L24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731426 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27793025
18339909 PSMD9 proteasome 26S subunit, non-ATPase 9 gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:737461 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:28492532
18339919 KLHL35 kelch like family member 35 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1603871 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532
18339919 KLHL35 kelch like family member 35 gene DOID:1059 intellectual disability ISO RGD:1603871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18339936 SLC35D1 solute carrier family 35 member D1 gene DOID:0050775 schneckenbecken dysplasia ISO RGD:1320404 D RGD:7240710 20200205 OMIM
18339936 SLC35D1 solute carrier family 35 member D1 gene DOID:0050775 schneckenbecken dysplasia ISO RGD:1320404 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Schneckenbecken dysplasia PMID:16199547|PMID:17576681|PMID:17952091|PMID:19508970|PMID:25741868|PMID:28492532|PMID:35934917|PMID:9536098
18339936 SLC35D1 solute carrier family 35 member D1 gene DOID:0080570 congenital disorder of glycosylation It ISO RGD:1320404 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: PGM1-congenital disorder of glycosylation PMID:28492532
18339936 SLC35D1 solute carrier family 35 member D1 gene DOID:1059 intellectual disability ISO RGD:1320404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868
18339936 SLC35D1 solute carrier family 35 member D1 gene DOID:630 genetic disease ISO RGD:1320404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18339936 SLC35D1 solute carrier family 35 member D1 gene DOID:65 connective tissue disease ISO RGD:1320404 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532
18339936 SLC35D1 solute carrier family 35 member D1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320404 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16759393
18339957 SYCP2 synaptonemal complex protein 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:31866047
18339957 SYCP2 synaptonemal complex protein 2 gene DOID:0070176 spermatogenic failure 4 ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early spermatogenesis maturation arrest PMID:25741868|PMID:31866047
18339957 SYCP2 synaptonemal complex protein 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:69483 D RGD:7240710 20200318 OMIM
18339957 SYCP2 synaptonemal complex protein 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OLIGOCHIASMATIC INFERTILITY | ClinVar Annotator: match by term: Oligosynaptic infertility | ClinVar Annotator: match by term: SYCP2-related condition PMID:25741868|PMID:31866047
18339957 SYCP2 synaptonemal complex protein 2 gene DOID:0112338 spermatogenic failure 57 ISO RGD:69483 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation PMID:25741868
18339957 SYCP2 synaptonemal complex protein 2 gene DOID:10283 prostate cancer ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
18339957 SYCP2 synaptonemal complex protein 2 gene DOID:9003436 CRYPTOZOOSPERMIA ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptozoospermia PMID:25741868|PMID:31866047
18340053 DIABLO diablo IAP-binding mitochondrial protein gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1322043 D RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss PMID:25741868
18340053 DIABLO diablo IAP-binding mitochondrial protein gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:1322043 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:28492532
18340053 DIABLO diablo IAP-binding mitochondrial protein gene DOID:0110585 autosomal dominant nonsyndromic deafness 64 ISO RGD:1322043 D RGD:7240710 20200205 OMIM
18340053 DIABLO diablo IAP-binding mitochondrial protein gene DOID:0110585 autosomal dominant nonsyndromic deafness 64 ISO RGD:1322043 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: DIABLO-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 64 PMID:21722859|PMID:24033266|PMID:25741868|PMID:28492532
18340053 DIABLO diablo IAP-binding mitochondrial protein gene DOID:12858 Huntington's disease ISO RGD:1322043 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12930891
18340053 DIABLO diablo IAP-binding mitochondrial protein gene DOID:2316 brain ischemia ISO RGD:1322043 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:11756504
18340053 DIABLO diablo IAP-binding mitochondrial protein gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322043 D RGD:9068941 20211008 RGD mRNA:increased expression:lung PMID:16231180|REF_RGD_ID:13434909
18340053 DIABLO diablo IAP-binding mitochondrial protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322043 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:17718901
18340053 DIABLO diablo IAP-binding mitochondrial protein gene DOID:9004538 Hearing Loss ISO RGD:1322043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386
18340053 DIABLO diablo IAP-binding mitochondrial protein gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1322043 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:30664745
18340053 DIABLO diablo IAP-binding mitochondrial protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1322043 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:14998631
18340077 COLQ collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:0060417 3p deletion syndrome ISO RGD:736660 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835
18340077 COLQ collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:736660 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel PMID:15159418|PMID:22678886|PMID:22960500|PMID:25741868|PMID:28492532|PMID:29054425|PMID:9758617
18340077 COLQ collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:0110667 congenital myasthenic syndrome 5 ISO RGD:736660 D RGD:7240710 20200205 OMIM
18340077 COLQ collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:0110667 congenital myasthenic syndrome 5 ISO RGD:736660 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 5 PMID:10441569|PMID:10665486|PMID:11865139|PMID:14702351|PMID:15034283|PMID:15159418|PMID:15248101|PMID:16009904|PMID:16199547|PMID:17576681|PMID:18180250|PMID:18414213|PMID:18567859|PMID:20370815|PMID:214017|PMID:21952943|PMID:22088788|PMID:22490774|PMID:22678886|PMID:22759693|PMID:22960500|PMID:23108489|PMID:23371844|PMID:23553736|PMID:24033266|PMID:24281389|PMID:25557462|PMID:25741868|PMID:25792100|PMID:26467025|PMID:27830186|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29150079|PMID:29395675|PMID:30124556|PMID:31345272|PMID:32978031|PMID:33756069|PMID:34749429|PMID:34912755|PMID:36308527|PMID:37238317|PMID:38475910|PMID:8390325|PMID:9536098|PMID:9689136|PMID:9758617
18340077 COLQ collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:3635 congenital myasthenic syndrome ISO RGD:736660 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital | ClinVar Annotator: match by term: Synaptic congenital myasthenic syndromes PMID:10441569|PMID:10665486|PMID:14702351|PMID:15034283|PMID:15159418|PMID:16199547|PMID:17576681|PMID:18180250|PMID:20370815|PMID:21952943|PMID:22088788|PMID:22678886|PMID:22960500|PMID:23371844|PMID:23553736|PMID:24033266|PMID:24281389|PMID:25557462|PMID:25741868|PMID:26467025|PMID:27830186|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29150079|PMID:30124556|PMID:32978031|PMID:33756069|PMID:34749429|PMID:34912755|PMID:36308527|PMID:38475910|PMID:8390325|PMID:9536098|PMID:9689136|PMID:9758617
18340077 COLQ collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:630 genetic disease ISO RGD:736660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18340077 COLQ collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:856 biotinidase deficiency ISO RGD:736660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency PMID:20083419|PMID:28492532
18340139 MYF6 myogenic factor 6 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:731932 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT PMID:11053684|PMID:25741868|PMID:28492532
18340139 MYF6 myogenic factor 6 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:731932 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:11053684|PMID:17576681|PMID:25741868|PMID:28053302|PMID:28492532|PMID:9536098
18340139 MYF6 myogenic factor 6 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:731932 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 1 | ClinVar Annotator: match by term: Myopathy, centronuclear, 3 PMID:11053684|PMID:25741868|PMID:28492532
18340139 MYF6 myogenic factor 6 gene DOID:422 congenital structural myopathy ISO RGD:731932 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:11053684|PMID:17576681|PMID:25741868|PMID:28053302|PMID:28492532|PMID:9536098
18340162 LOC103225805 taste receptor type 1 member 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344836 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
18340162 LOC103225805 taste receptor type 1 member 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868
18340162 LOC103225805 taste receptor type 1 member 3 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1344836 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316
18340162 LOC103225805 taste receptor type 1 member 3 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532
18340162 LOC103225805 taste receptor type 1 member 3 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532
18340162 LOC103225805 taste receptor type 1 member 3 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1344836 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
18340162 LOC103225805 taste receptor type 1 member 3 gene DOID:0111934 immunodeficiency 38 ISO RGD:1344836 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
18340162 LOC103225805 taste receptor type 1 member 3 gene DOID:0111935 immunodeficiency 16 ISO RGD:1344836 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
18340162 LOC103225805 taste receptor type 1 member 3 gene DOID:12336 male infertility ISO RGD:1344836 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23818598
18340162 LOC103225805 taste receptor type 1 member 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532
18340162 LOC103225805 taste receptor type 1 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18340162 LOC103225805 taste receptor type 1 member 3 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1344836 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316
18340162 LOC103225805 taste receptor type 1 member 3 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1344836 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
18340180 HNRNPDL heterogeneous nuclear ribonucleoprotein D like gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1320569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome
18340180 HNRNPDL heterogeneous nuclear ribonucleoprotein D like gene DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ISO RGD:1320569 D RGD:7240710 20200205 OMIM
18340180 HNRNPDL heterogeneous nuclear ribonucleoprotein D like gene DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ISO RGD:1320569 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G PMID:15367920|PMID:17576681|PMID:24647604|PMID:25741868|PMID:28492532|PMID:30604053|PMID:31267206|PMID:32528171|PMID:33131168|PMID:9536098
18340209 FBXO22 F-box protein 22 gene DOID:0080519 PAPA syndrome ISO RGD:1315406 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial recurrent arthritis PMID:28492532
18340209 FBXO22 F-box protein 22 gene DOID:2717 Bloom syndrome ISO RGD:1315406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
18340209 FBXO22 F-box protein 22 gene DOID:5419 schizophrenia ISO RGD:1315406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18340209 FBXO22 F-box protein 22 gene DOID:9256 colorectal cancer ISO RGD:1315406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1344111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:23422940|PMID:23587880|PMID:25741868|PMID:28492532|PMID:30763456
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:0060224 atrial fibrillation ISO RGD:1344111 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29892015
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1623858 D RGD:9068941 20220825 MouseDO
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1344111 D RGD:7240710 20200205 OMIM
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1344111 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder | ClinVar Annotator: match by term: MBD5-related condition PMID:16199547|PMID:17576681|PMID:17847001|PMID:19809484|PMID:19904302|PMID:21981781|PMID:22726846|PMID:23055267|PMID:23422940|PMID:23587880|PMID:23632792|PMID:24885232|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26350204|PMID:26467025|PMID:27222293|PMID:28008202|PMID:28074849|PMID:28454995|PMID:28492532|PMID:29655203|PMID:31820818|PMID:32193494|PMID:32238909|PMID:33427406|PMID:33912662|PMID:35385942|PMID:9536098
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1344111 D RGD:8554872 20240625 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:28492532
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1344111 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A PMID:25741868
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: developmental delay with intractable seizures PMID:26467025|PMID:28492532
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:1059 intellectual disability ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:30763456
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:10907 microcephaly ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:12849 autistic disorder ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:1826 epilepsy ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:5419 schizophrenia ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:630 genetic disease ISO RGD:1344111 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17847001|PMID:21981781|PMID:23055267|PMID:23422940|PMID:23587880|PMID:25741868|PMID:26350204|PMID:26467025|PMID:27222293|PMID:28008202|PMID:28492532|PMID:30763456|PMID:33912662
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868|PMID:28492532
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18340233 MBD5 methyl-CpG binding domain protein 5 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868
18340282 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322871 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23685749
18340282 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1322871 D RGD:9068941 20220708 RGD protein:increased expression:intrahepatic bile duct (human) PMID:30377796|REF_RGD_ID:152998946
18340427 ZC4H2 zinc finger C4H2-type containing gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
18340427 ZC4H2 zinc finger C4H2-type containing gene DOID:0060815 Wieacker-Wolff syndrome ISO RGD:1349237 D RGD:7240710 20200205 OMIM
18340427 ZC4H2 zinc finger C4H2-type containing gene DOID:0060815 Wieacker-Wolff syndrome ISO RGD:1349237 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Miles-Carpenter syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability | ClinVar Annotator: match by term: ZC4H2-related condition PMID:17576681|PMID:1915520|PMID:2018061|PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972|PMID:32860008|PMID:36250278|PMID:4039531|PMID:9536098
18340427 ZC4H2 zinc finger C4H2-type containing gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1349237 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023
18340427 ZC4H2 zinc finger C4H2-type containing gene DOID:0061015 female-restricted Wieacker-Wolff syndrome ISO RGD:1349237 D RGD:7240710 20200826 OMIM
18340427 ZC4H2 zinc finger C4H2-type containing gene DOID:0061015 female-restricted Wieacker-Wolff syndrome ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted PMID:23623388|PMID:25741868|PMID:28814648|PMID:31206972
18340427 ZC4H2 zinc finger C4H2-type containing gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1349237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:28492532
18340427 ZC4H2 zinc finger C4H2-type containing gene DOID:0111823 autosomal hemophilia A ISO RGD:1349237 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
18340427 ZC4H2 zinc finger C4H2-type containing gene DOID:0111827 X-linked spinal muscular atrophy 2 ISO RGD:1349237 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23623388
18340427 ZC4H2 zinc finger C4H2-type containing gene DOID:10907 microcephaly ISO RGD:1349237 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26056227
18340427 ZC4H2 zinc finger C4H2-type containing gene DOID:12134 factor VIII deficiency ISO RGD:1349237 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
18340427 ZC4H2 zinc finger C4H2-type containing gene DOID:12849 autistic disorder ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18340427 ZC4H2 zinc finger C4H2-type containing gene DOID:630 genetic disease ISO RGD:1349237 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972
18340427 ZC4H2 zinc finger C4H2-type containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:1915520|PMID:23623388|PMID:25741868|PMID:28814648
18340451 DENND2C DENN domain containing 2C gene DOID:0080690 RASopathy ISO RGD:1604979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532
18340451 DENND2C DENN domain containing 2C gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1604979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532
18340494 STN1 STN1 subunit of CST complex gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1313785 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23583980
18340494 STN1 STN1 subunit of CST complex gene DOID:1909 melanoma ISO RGD:1313785 D RGD:9068941 20220610 RGD DNA:SNP:cds:rs9420907|rs2995264 (human) PMID:25231748|REF_RGD_ID:152995261
18340494 STN1 STN1 subunit of CST complex gene DOID:3873 desmoplastic/nodular medulloblastoma ISO RGD:1313785 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma PMID:12068298
18340494 STN1 STN1 subunit of CST complex gene DOID:4001 ovarian carcinoma ISO RGD:1313785 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28346442
18340494 STN1 STN1 subunit of CST complex gene DOID:630 genetic disease ISO RGD:1313785 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18340494 STN1 STN1 subunit of CST complex gene DOID:9003025 Cerebroretinal Microangiopathy with Calcifications and Cysts ISO RGD:1313785 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism
18340494 STN1 STN1 subunit of CST complex gene DOID:9005172 Lung Neoplasms ISO RGD:1313785 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28604730
18340494 STN1 STN1 subunit of CST complex gene DOID:9005983 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 ISO RGD:1313785 D RGD:7240710 20200205 OMIM
18340494 STN1 STN1 subunit of CST complex gene DOID:9005983 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 ISO RGD:1313785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition PMID:25741868|PMID:27432940|PMID:28492532
18340518 LOC103226237 dpy-19 like C-mannosyltransferase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
18340585 PASD1 PAS domain containing repressor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346433 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
18340585 PASD1 PAS domain containing repressor 1 gene DOID:0111823 autosomal hemophilia A ISO RGD:1346433 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
18340585 PASD1 PAS domain containing repressor 1 gene DOID:12134 factor VIII deficiency ISO RGD:1346433 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
18340585 PASD1 PAS domain containing repressor 1 gene DOID:12849 autistic disorder ISO RGD:1346433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18340615 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0050563 nonsyndromic deafness ISO RGD:1603834 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:25589040|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29703829|PMID:30514912|PMID:33111345
18340615 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1603834 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:30311386
18340615 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1603834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532
18340615 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:1603834 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 PMID:25741868|PMID:26467025|PMID:28492532|PMID:33111345
18340615 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110573 autosomal dominant nonsyndromic deafness 4A ISO RGD:1621965 D RGD:9068941 20220825 MouseDO OMIM:600652
18340615 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110574 autosomal dominant nonsyndromic deafness 4B ISO RGD:1603834 D RGD:7240710 20200205 OMIM
18340615 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110574 autosomal dominant nonsyndromic deafness 4B ISO RGD:1603834 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CEACAM16-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 4b PMID:21368133|PMID:24033266|PMID:25589040|PMID:25741868|PMID:28492532|PMID:30311386|PMID:35802133|PMID:36633841|PMID:7655461
18340615 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0111636 autosomal recessive nonsyndromic deafness 113 ISO RGD:1603834 D RGD:7240710 20200205 OMIM
18340615 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0111636 autosomal recessive nonsyndromic deafness 113 ISO RGD:1603834 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 113 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29703829|PMID:30311386|PMID:33111345
18340615 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:630 genetic disease ISO RGD:1603834 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532
18340615 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:9000854 Lethal Congenital Contracture Syndrome 7 ISO RGD:1603834 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 PMID:25741868|PMID:26467025|PMID:28492532|PMID:33111345
18340615 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:9004538 Hearing Loss ISO RGD:1603834 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25741868|PMID:30311386
18340625 STEAP2 STEAP2 metalloreductase gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1316016 D RGD:9068941 20211008 RGD protein:increased expression:spinal chord PMID:19656261|REF_RGD_ID:13524567
18340625 STEAP2 STEAP2 metalloreductase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
18340655 GTF2H4 general transcription factor IIH 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
18340655 GTF2H4 general transcription factor IIH subunit 4 gene DOID:11372 megacolon ISO RGD:1352501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
18340679 PPP1CC protein phosphatase 1 catalytic subunit gamma gene DOID:6000 congestive heart failure ISO RGD:3377 D RGD:9068941 20211008 RGD protein:increased expression:heart, membrane PMID:26668322|REF_RGD_ID:11526267
18340679 PPP1CC protein phosphatase 1 catalytic subunit gamma gene DOID:9000039 Spinal Cord Injuries ISO RGD:3377 D RGD:9068941 20211008 RGD protein:increased expression:spinal cord, astrocyte, microglial cell PMID:29033188|REF_RGD_ID:13514047
18340679 PPP1CC protein phosphatase 1 catalytic subunit gamma gene DOID:9002762 Ovarian Neoplasms ISO RGD:734001 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21397856
18340733 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:734039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:29146883
18340733 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:734039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532
18340733 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:12450 pancytopenia ISO RGD:734039 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:30755392
18340733 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:630 genetic disease ISO RGD:734039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28062395|PMID:28492532|PMID:29700810
18340733 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9001510 Funnel Chest ISO RGD:734039 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:30755392
18340733 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9002775 Cognitive Dysfunction ISO RGD:734039 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:30755392
18340733 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18340733 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9004906 Congenital Bone Marrow Failure Syndromes ISO RGD:734039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inherited bone marrow failure syndrome PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:29146883
18340733 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9005307 Bone Marrow Failure Syndrome 3 ISO RGD:734039 D RGD:7240710 20200205 OMIM
18340733 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9005307 Bone Marrow Failure Syndrome 3 ISO RGD:734039 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 3 | ClinVar Annotator: match by term: DNAJC21-related condition PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:29146883|PMID:29700810|PMID:30755392
18340733 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9007661 Dwarfism ISO RGD:734039 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:30755392
18340733 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9119 acute myeloid leukemia ISO RGD:734039 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:30755392
18340787 SVBP small vasohibin binding protein gene DOID:0070561 glucose transporter type 1 deficiency syndrome 1 ISO RGD:1605525 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:20382060|PMID:21832227|PMID:26193382|PMID:28492532
18340787 SVBP small vasohibin binding protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532
18340787 SVBP small vasohibin binding protein gene DOID:1059 intellectual disability ISO RGD:1605525 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:30607023|PMID:31363758
18340787 SVBP small vasohibin binding protein gene DOID:10907 microcephaly ISO RGD:1605525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:30607023|PMID:31363758
18340787 SVBP small vasohibin binding protein gene DOID:630 genetic disease ISO RGD:1605525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
18340787 SVBP small vasohibin binding protein gene DOID:9008370 NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY ISO RGD:1605525 D RGD:7240710 20230104 OMIM
18340787 SVBP small vasohibin binding protein gene DOID:9008370 NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY ISO RGD:1605525 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly PMID:25741868|PMID:30607023|PMID:31363758
18340833 HCRT hypocretin neuropeptide precursor gene DOID:0050742 nicotine dependence ISO RGD:731040 D RGD:9068941 20240201 RGD mRNA:increased expression:blood (human) PMID:22846875|REF_RGD_ID:401960066
18340833 HCRT hypocretin neuropeptide precursor gene DOID:0050848 obstructive sleep apnea ISO RGD:731040 D RGD:9068941 20211008 RGD protein:decreased expression:plasma:independent of level of somnolence or obesity PMID:15627867|REF_RGD_ID:1600936
18340833 HCRT hypocretin neuropeptide precursor gene DOID:0060001 withdrawal disorder ISO RGD:731040 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20738730
18340833 HCRT hypocretin neuropeptide precursor gene DOID:0060001 withdrawal disorder severity ISO RGD:731040 D RGD:9068941 20240201 RGD associated with alcohol dependence;mRNA:decreased expression:blood plasma (human) PMID:21621370|REF_RGD_ID:401960070
18340833 HCRT hypocretin neuropeptide precursor gene DOID:10112 sleeping sickness ISO RGD:2786 D RGD:9068941 20240502 RGD PMID:25595977|REF_RGD_ID:405650615
18340833 HCRT hypocretin neuropeptide precursor gene DOID:10112 sleeping sickness ISO RGD:731041 D RGD:9068941 20240502 RGD PMID:25595977|REF_RGD_ID:405650615
18340833 HCRT hypocretin neuropeptide precursor gene DOID:11983 Prader-Willi syndrome ISO RGD:731040 D RGD:9068941 20211008 RGD protein:decreased expression:cerebrospinal fluid PMID:15613151|REF_RGD_ID:1600935
18340833 HCRT hypocretin neuropeptide precursor gene DOID:12842 Guillain-Barre syndrome ISO RGD:731040 D RGD:9068941 20211008 RGD protein:decreased expression:cerebrospinal fluid PMID:15623725|REF_RGD_ID:1600925
18340833 HCRT hypocretin neuropeptide precursor gene DOID:1289 neurodegenerative disease ISO RGD:731040 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23246865
18340833 HCRT hypocretin neuropeptide precursor gene DOID:1849 cannabis dependence ISO RGD:731040 D RGD:9068941 20240201 RGD mRNA:increased expression:blood (human) PMID:22846875|REF_RGD_ID:401960066
18340833 HCRT hypocretin neuropeptide precursor gene DOID:4195 hyperglycemia treatment ISO RGD:2786 D RGD:9068941 20211008 RGD associated with Obesity PMID:12217430|REF_RGD_ID:1358430
18340833 HCRT hypocretin neuropeptide precursor gene DOID:809 cocaine abuse treatment ISO RGD:731041 D RGD:9068941 20240201 RGD PMID:29454841|REF_RGD_ID:401960065
18340833 HCRT hypocretin neuropeptide precursor gene DOID:8986 narcolepsy ISO RGD:731040 D RGD:9068941 20211008 RGD DNA:polymorphism:5' UTR:3250C/T, all patients found heterozygous for the 3250T allele PMID:11148249|REF_RGD_ID:1600922
18340833 HCRT hypocretin neuropeptide precursor gene DOID:8986 narcolepsy ISO RGD:731040 D RGD:9068941 20211008 RGD mRNA:decreased expression:hypothalamus or protein:decreased expression:brain; in all samples examined PMID:10973318|REF_RGD_ID:1600919
18340833 HCRT hypocretin neuropeptide precursor gene DOID:8986 narcolepsy ISO RGD:731041 D RGD:9068941 20220825 MouseDO OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250
18340833 HCRT hypocretin neuropeptide precursor gene DOID:8986 narcolepsy no_association ISO RGD:731040 D RGD:9068941 20211008 RGD DNA:polymorphism:5' UTR:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele) PMID:11723284|REF_RGD_ID:1600923
18340833 HCRT hypocretin neuropeptide precursor gene DOID:9000641 Pain ISO RGD:731040 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:16202530
18340833 HCRT hypocretin neuropeptide precursor gene DOID:9002395 Hypothermia ISO RGD:731040 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26799708
18340833 HCRT hypocretin neuropeptide precursor gene DOID:9002801 Recurrence ISO RGD:731040 D RGD:9068941 20240201 RGD associated with nicotine dependence;protein:decreased expression :blood plasma (human) PMID:30117237|REF_RGD_ID:401960073
18340833 HCRT hypocretin neuropeptide precursor gene DOID:9002916 Hyperphagia ISO RGD:2786 D RGD:9068941 20211008 RGD PMID:12535169|REF_RGD_ID:1358429
18340833 HCRT hypocretin neuropeptide precursor gene DOID:9002916 Hyperphagia ISO RGD:731040 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27071101
18340833 HCRT hypocretin neuropeptide precursor gene DOID:9002925 Narcolepsy 1 ISO RGD:731040 D RGD:7240710 20200205 OMIM
18340833 HCRT hypocretin neuropeptide precursor gene DOID:9002925 Narcolepsy 1 ISO RGD:731040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Narcolepsy 1 PMID:10973318
18340833 HCRT hypocretin neuropeptide precursor gene DOID:9004657 Weight Gain ISO RGD:731040 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27071101
18340833 HCRT hypocretin neuropeptide precursor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731040 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16357203
18340833 HCRT hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:2786 D RGD:9068941 20211008 RGD mRNA:increased expression:perifornical nucleus PMID:12560202|REF_RGD_ID:1358428
18340833 HCRT hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731040 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27071101
18340833 HCRT hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731040 D RGD:9068941 20211008 RGD protein:decreased expression:plasma:orexin A NOT orexin B polypeptide, expression inversely related to degree of obesity PMID:16135994|REF_RGD_ID:1600933
18340833 HCRT hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731040 D RGD:9068941 20211008 RGD protein:increased expression:plasma:fasting patients, no change after weight loss due to gastric banding PMID:15970339|REF_RGD_ID:1600932
18340833 HCRT hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731041 D RGD:9068941 20211008 RGD mRNA:increased expression:perifornical nucleus PMID:12560202|REF_RGD_ID:1358428
18340833 HCRT hypocretin neuropeptide precursor gene DOID:9976 heroin dependence treatment ISO RGD:731040 D RGD:9068941 20240201 RGD PMID:35984180|REF_RGD_ID:401960075
18340846 PCTP phosphatidylcholine transfer protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353620 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:38922859
18340870 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
18340870 HSPA14 heat shock protein family A (Hsp70) member 14 gene DOID:403 mouth disease ISO RGD:38549391 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004
18340896 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
18340896 DDAH2 DDAH family member 2, ADMA-independent gene DOID:10591 pre-eclampsia ISO RGD:1346413 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22285683
18340896 DDAH2 DDAH family member 2, ADMA-independent gene DOID:3393 coronary artery disease ISO RGD:1346413 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17267746
18340919 GRAMD2B GRAM domain containing 2B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604604 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
18340919 GRAMD2B GRAM domain containing 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18340919 GRAMD2B GRAM domain containing 2B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604604 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
18340952 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1603605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532
18340952 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603605 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
18340952 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603605 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
18340952 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18340952 CYSTM1 cysteine rich transmembrane module containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603605 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
18340979 DSC3 desmocollin 3 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323416 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:31690835
18340979 DSC3 desmocollin 3 gene DOID:1059 intellectual disability ISO RGD:1323416 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability
18340979 DSC3 desmocollin 3 gene DOID:9000225 Hypotrichosis and Recurrent Skin Vesicles ISO RGD:1323416 D RGD:7240710 20200205 OMIM
18340979 DSC3 desmocollin 3 gene DOID:9000225 Hypotrichosis and Recurrent Skin Vesicles ISO RGD:1323416 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DSC3-related condition | ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles PMID:19765682|PMID:25741868|PMID:31790667
18340979 DSC3 desmocollin 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1323416 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16799634
18341029 TRMT1L tRNA methyltransferase 1 like gene DOID:11372 megacolon ISO RGD:1317348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
18341029 TRMT1L tRNA methyltransferase 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1317348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18341029 TRMT1L tRNA methyltransferase 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18341063 ADGRB2 adhesion G protein-coupled receptor B2 gene DOID:0080600 COVID-19 ISO RGD:1319770 D RGD:9068941 20211008 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18341063 ADGRB2 adhesion G protein-coupled receptor B2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319770 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868
18341063 ADGRB2 adhesion G protein-coupled receptor B2 gene DOID:9002598 Spastic Paraparesis ISO RGD:1319770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive spastic paraparesis PMID:28891236
18341127 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0050424 familial adenomatous polyposis ISO RGD:734270 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:17559352
18341127 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:734270 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546
18341127 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0080361 trimethylaminuria ISO RGD:734270 D RGD:7240710 20200205 OMIM
18341127 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:0080361 trimethylaminuria ISO RGD:734270 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Trimethylaminuria PMID:10338091|PMID:10376762|PMID:10479479|PMID:10898113|PMID:11136294|PMID:11191884|PMID:11266081|PMID:12228178|PMID:12527699|PMID:12678693|PMID:12814961|PMID:12893987|PMID:12938085|PMID:15203093|PMID:15564885|PMID:15618671|PMID:15618753|PMID:16296944|PMID:16600650|PMID:16601883|PMID:16858129|PMID:16996766|PMID:17096187|PMID:17142560|PMID:17224546|PMID:17329912|PMID:17531949|PMID:17584019|PMID:18028028|PMID:18423897|PMID:19321370|PMID:19577495|PMID:20301282|PMID:21422137|PMID:21451776|PMID:22819296|PMID:23567996|PMID:23791655|PMID:25741868|PMID:25870212|PMID:27118741|PMID:27523475|PMID:28196478|PMID:28392825|PMID:28492532|PMID:28649550|PMID:28743400|PMID:29116146|PMID:29555771|PMID:30351217|PMID:31180159|PMID:31240165|PMID:31401033|PMID:31533761|PMID:31580948|PMID:31589614|PMID:31980526|PMID:32653296|PMID:33473342|PMID:33831674|PMID:34634752|PMID:34834137|PMID:35853340|PMID:37930845|PMID:8401051|PMID:9282831|PMID:9398858|PMID:9536088|PMID:987532
18341127 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:10763 hypertension ISO RGD:734270 D RGD:9068941 20211008 RGD DNA:nonsense mutation:CDS:amino acid E305X, associated with trimethylaminuria, OMIM:602079 PMID:9536088|REF_RGD_ID:1626461
18341127 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:10763 hypertension no_association ISO RGD:734270 D RGD:9068941 20211008 RGD DNA:polymorphism:CDS:no association with any of the four common genotypes or haplotypes in a Caucasian population PMID:16324215|REF_RGD_ID:1626466
18341127 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:734270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18341127 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:630 genetic disease ISO RGD:734270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
18341127 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:655 inherited metabolic disorder ISO RGD:734270 D RGD:9068941 20211008 RGD trimethylaminuria, OMIM:602079; DNA:nonsense mutation:CDS:amino acid E305X PMID:9536088|REF_RGD_ID:1626461
18341127 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734270 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:24973094
18341127 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:734270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868
18341127 FMO3 flavin containing dimethylaniline monoxygenase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18341148 SPR sepiapterin reductase gene DOID:0050473 Alstrom syndrome ISO RGD:1346391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532
18341148 SPR sepiapterin reductase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1346391 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
18341148 SPR sepiapterin reductase gene DOID:0080600 COVID-19 ISO RGD:1346391 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18341148 SPR sepiapterin reductase gene DOID:0090043 DOPA-responsive dystonia ISO RGD:1346391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dopa-responsive dystonia
18341148 SPR sepiapterin reductase gene DOID:0111168 sepiapterin reductase deficiency ISO RGD:1346391 D RGD:7240710 20200205 OMIM
18341148 SPR sepiapterin reductase gene DOID:0111168 sepiapterin reductase deficiency ISO RGD:1346391 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency | ClinVar Annotator: match by term: SPR deficiency PMID:10384371|PMID:11443547|PMID:15241655|PMID:16049044|PMID:16650784|PMID:16752391|PMID:16917893|PMID:17159114|PMID:17576681|PMID:18414213|PMID:18502672|PMID:19130291|PMID:19491146|PMID:21431957|PMID:21677200|PMID:22291068|PMID:22522443|PMID:23430877|PMID:24212389|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116|PMID:29147684|PMID:31041399|PMID:33098801|PMID:33822819|PMID:34324503|PMID:34550503|PMID:35872528|PMID:35926683|PMID:9536098|PMID:9700606
18341148 SPR sepiapterin reductase gene DOID:1059 intellectual disability ISO RGD:1346391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362
18341148 SPR sepiapterin reductase gene DOID:14330 Parkinson's disease ISO RGD:736908 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
18341148 SPR sepiapterin reductase gene DOID:543 dystonia ISO RGD:1346391 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder PMID:11443547|PMID:15241655|PMID:16697227|PMID:16752391|PMID:16917893|PMID:17159114|PMID:17576681|PMID:18502672|PMID:19130291|PMID:19491146|PMID:21431957|PMID:21677200|PMID:22291068|PMID:22522443|PMID:23430877|PMID:23542699|PMID:23640889|PMID:24212389|PMID:24588500|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116|PMID:29147684|PMID:30682498|PMID:31041399|PMID:32581362|PMID:33098801|PMID:33822819|PMID:34324503|PMID:34550503|PMID:35872528|PMID:35926683|PMID:9536098
18341148 SPR sepiapterin reductase gene DOID:543 dystonia susceptibility ISO RGD:1346391 D RGD:9068941 20211008 RGD DNA:deletion, transitions PMID:11443547|REF_RGD_ID:1600054
18341148 SPR sepiapterin reductase gene DOID:630 genetic disease ISO RGD:1346391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22522443|PMID:25741868|PMID:28492532
18341148 SPR sepiapterin reductase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1346391 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
18341155 B3GAT2 beta-1,3-glucuronyltransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348026 D RGD:9068941 20240912 CTD CTD Direct Evidence: marker/mechanism PMID:35663546
18341155 B3GAT2 beta-1,3-glucuronyltransferase 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1348026 D RGD:9068941 20211008 RGD DNA:SNP: :rs2460691, rrs1094527(human) PMID:20950796|REF_RGD_ID:14390078
18341155 B3GAT2 beta-1,3-glucuronyltransferase 2 gene DOID:9003505 Venous Thromboembolism ISO RGD:1348026 D RGD:9068941 20211008 RGD DNA:SNPs: :rs1304029,rs2748331(human) PMID:28011674|REF_RGD_ID:14390077
18341155 B3GAT2 beta-1,3-glucuronyltransferase 2 gene DOID:9206 Barrett's esophagus ISO RGD:1348026 D RGD:9068941 20211008 RGD DNA:hypermethylation:esophageal squamous epithelium PMID:26545406|REF_RGD_ID:11552890
18341173 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313416 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
18341173 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1313416 D RGD:9068941 20220818 RGD human cells in mouse model PMID:30453282|REF_RGD_ID:153323337
18341173 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313416 D RGD:9068941 20220818 RGD protein:increased expression:blood serum (human) PMID:24892551|REF_RGD_ID:153323333
18341173 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313417 D RGD:9068941 20220818 RGD protein:increased expression:blood serum (mouse) PMID:24892551|REF_RGD_ID:153323333
18341173 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1313416 D RGD:9068941 20220818 RGD human cells in mouse model PMID:21394108|REF_RGD_ID:153323335
18341173 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313416 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:30453282
18341173 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:1313416 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:30453282
18341173 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:1313416 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:30453282
18341173 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18341173 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1313416 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:30453282
18341173 LECT2 leukocyte cell derived chemotaxin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313416 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
18341204 CUNH19orf33 chromosome unknown C19orf33 homolog gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354281 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:35142956
18341204 CUNH19orf33 chromosome unknown C19orf33 homolog gene DOID:9000918 Disease Progression ISO RGD:1354281 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35142956
18341242 OLAH oleoyl-ACP hydrolase gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1352519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868
18341242 OLAH oleoyl-ACP hydrolase gene DOID:0080600 COVID-19 ISO RGD:1352519 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18341257 KRT25 keratin 25 gene DOID:0110705 hypotrichosis 8 ISO RGD:1353851 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3 PMID:24824130|PMID:26160856
18341257 KRT25 keratin 25 gene DOID:0111574 autosomal recessive woolly hair 3 ISO RGD:1353851 D RGD:7240710 20200205 OMIM
18341257 KRT25 keratin 25 gene DOID:0111574 autosomal recessive woolly hair 3 ISO RGD:1353851 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: KRT25-related condition | ClinVar Annotator: match by term: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, WITH HYPOTRICHOSIS PMID:24824130|PMID:26160856|PMID:26902920|PMID:28492532
18341257 KRT25 keratin 25 gene DOID:9001083 Autosomal Recessive Woolly Hair ISO RGD:1353851 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism
18341269 TMEM107 transmembrane protein 107 gene DOID:0050450 Gitelman syndrome ISO RGD:1603948 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia PMID:25741868|PMID:27571260
18341269 TMEM107 transmembrane protein 107 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 PMID:25741868|PMID:27571260
18341269 TMEM107 transmembrane protein 107 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285
18341269 TMEM107 transmembrane protein 107 gene DOID:0080253 Meckel syndrome 13 ISO RGD:1603948 D RGD:7240710 20200205 OMIM
18341269 TMEM107 transmembrane protein 107 gene DOID:0080253 Meckel syndrome 13 ISO RGD:1603948 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Meckel syndrome 13 PMID:25741868|PMID:26123494|PMID:26595381
18341269 TMEM107 transmembrane protein 107 gene DOID:0080254 orofaciodigital syndrome XVI ISO RGD:1603948 D RGD:7240710 20200205 OMIM
18341269 TMEM107 transmembrane protein 107 gene DOID:0080254 orofaciodigital syndrome XVI ISO RGD:1603948 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVI PMID:25741868|PMID:26595381|PMID:28492532
18341269 TMEM107 transmembrane protein 107 gene DOID:0080600 COVID-19 ISO RGD:1603948 D RGD:9068941 20211008 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422
18341269 TMEM107 transmembrane protein 107 gene DOID:12177 common variable immunodeficiency ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532
18341269 TMEM107 transmembrane protein 107 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603948 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532
18341269 TMEM107 transmembrane protein 107 gene DOID:2729 dyskeratosis congenita ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532
18341269 TMEM107 transmembrane protein 107 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532
18341269 TMEM107 transmembrane protein 107 gene DOID:630 genetic disease ISO RGD:1603948 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18341269 TMEM107 transmembrane protein 107 gene DOID:9003124 Labrune Syndrome ISO RGD:1603948 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts PMID:25741868|PMID:26595381|PMID:27571260|PMID:28177126|PMID:28492532|PMID:29260032|PMID:29970281|PMID:29984895|PMID:29984898|PMID:29996189|PMID:30794980|PMID:31521395|PMID:32342562|PMID:33029936|PMID:35710456|PMID:36237624|PMID:37761957
18341286 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:0060163 body dysmorphic disorder ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130
18341286 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:736329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557
18341286 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:0080777 lung sarcomatoid carcinoma ISO RGD:736329 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Lung sarcomatoid carcinoma
18341286 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:0112338 spermatogenic failure 57 ISO RGD:736329 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation PMID:25741868
18341286 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:1059 intellectual disability ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130
18341286 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:10907 microcephaly ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130
18341286 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:1749 squamous cell carcinoma ISO RGD:736329 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330
18341286 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:736329 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22535842
18341286 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:3070 high grade glioma ISO RGD:736329 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19276365
18341286 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:736329 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22215748|PMID:22585869|PMID:22617245|PMID:22919003
18341286 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:736329 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330
18341286 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:9000495 Tremor ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130
18341286 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:9007661 Dwarfism ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature
18341356 PGM3 phosphoglucomutase 3 gene DOID:0080545 hyper IgE syndrome ISO RGD:1603410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:24698316|PMID:3500672
18341356 PGM3 phosphoglucomutase 3 gene DOID:0111953 immunodeficiency 23 ISO RGD:1603410 D RGD:7240710 20200205 OMIM
18341356 PGM3 phosphoglucomutase 3 gene DOID:0111953 immunodeficiency 23 ISO RGD:1603410 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 PMID:1245758|PMID:14981714|PMID:16199547|PMID:17548465|PMID:17576681|PMID:24033266|PMID:24589341|PMID:24698316|PMID:24931394|PMID:25741868|PMID:26409661|PMID:26482871|PMID:28492532|PMID:28543917|PMID:29967067|PMID:30157810|PMID:31980526|PMID:32506361|PMID:33098103|PMID:3500672|PMID:35040011|PMID:9536098
18341356 PGM3 phosphoglucomutase 3 gene DOID:3307 teratoma ISO RGD:1603410 D RGD:9068941 20211008 RGD PMID:5259759|REF_RGD_ID:2299871
18341356 PGM3 phosphoglucomutase 3 gene DOID:4362 cervical cancer ISO RGD:1603410 D RGD:9068941 20211008 RGD PMID:508567|REF_RGD_ID:2299870
18341356 PGM3 phosphoglucomutase 3 gene DOID:627 severe combined immunodeficiency ISO RGD:1603410 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:1245758|PMID:17548465|PMID:24033266|PMID:24589341|PMID:24931394|PMID:25741868|PMID:26409661|PMID:26482871|PMID:28492532|PMID:28543917|PMID:29967067|PMID:35040011
18341356 PGM3 phosphoglucomutase 3 gene DOID:630 genetic disease ISO RGD:1603410 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24931394|PMID:25741868|PMID:26409661|PMID:28492532|PMID:29967067
18341384 HAPSTR2 HUWE1 associated protein modifying stress responses 2 gene DOID:12849 autistic disorder ISO RGD:38668552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18341393 FKBP7 FKBP prolyl isomerase 7 gene DOID:0090048 dystonia 16 ISO RGD:1313236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:28492532
18341393 FKBP7 FKBP prolyl isomerase 7 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1313236 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:25640679|PMID:28492532|PMID:29792937|PMID:30238059|PMID:30557390
18341403 PRRG2 proline rich and Gla domain 2 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1313475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532
18341437 KIF26B kinesin family member 26B gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1605983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868
18341437 KIF26B kinesin family member 26B gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:29053796
18341437 KIF26B kinesin family member 26B gene DOID:1540 parathyroid carcinoma ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18341437 KIF26B kinesin family member 26B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18341437 KIF26B kinesin family member 26B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18341459 FOXC2 forkhead box C2 gene DOID:0060260 ptosis ISO RGD:1347315 D RGD:9068941 20211008 RGD lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA PMID:11371511|REF_RGD_ID:1601216
18341459 FOXC2 forkhead box C2 gene DOID:0111509 lymphedema-distichiasis syndrome ISO RGD:1347315 D RGD:7240710 20200205 OMIM
18341459 FOXC2 forkhead box C2 gene DOID:0111509 lymphedema-distichiasis syndrome ISO RGD:1347315 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Distichiasis-lymphedema syndrome | ClinVar Annotator: match by term: FOXC2-related condition PMID:10417285|PMID:11078474|PMID:11371511|PMID:11499682|PMID:12114478|PMID:12485195|PMID:16081467|PMID:18197197|PMID:19760751|PMID:20301630|PMID:22768468|PMID:24278289|PMID:25252123|PMID:25741868|PMID:27276711|PMID:28492532|PMID:28724617|PMID:31460188|PMID:32411386|PMID:33461977|PMID:33897756|PMID:35716761
18341459 FOXC2 forkhead box C2 gene DOID:0111985 immunodeficiency 32B ISO RGD:1347315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:28492532
18341459 FOXC2 forkhead box C2 gene DOID:10952 nephritis ISO RGD:1347315 D RGD:9068941 20211008 RGD DNA:insertion:1006insA PMID:15523639|REF_RGD_ID:1601217
18341459 FOXC2 forkhead box C2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1347315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
18341459 FOXC2 forkhead box C2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347315 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27663689
18341459 FOXC2 forkhead box C2 gene DOID:4977 lymphedema ISO RGD:1347315 D RGD:9068941 20211008 RGD lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA PMID:11371511|REF_RGD_ID:1601216
18341459 FOXC2 forkhead box C2 gene DOID:4977 lymphedema ISO RGD:1347315 D RGD:9068941 20211008 RGD lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA PMID:15523639|REF_RGD_ID:1601217
18341459 FOXC2 forkhead box C2 gene DOID:530 eyelid disease ISO RGD:1347315 D RGD:9068941 20211008 RGD lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA PMID:15523639|REF_RGD_ID:1601217
18341459 FOXC2 forkhead box C2 gene DOID:6000 congestive heart failure ISO RGD:1347315 D RGD:9068941 20211008 RGD PMID:16952980|REF_RGD_ID:1582564
18341459 FOXC2 forkhead box C2 gene DOID:630 genetic disease ISO RGD:1347315 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12114478|PMID:16081467|PMID:19760751|PMID:25252123|PMID:25741868|PMID:27276711|PMID:28492532|PMID:28724617|PMID:31460188|PMID:32411386|PMID:33897756|PMID:35716761
18341459 FOXC2 forkhead box C2 gene DOID:6419 tetralogy of Fallot ISO RGD:1347315 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25093829
18341459 FOXC2 forkhead box C2 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1347315 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:9409679
18341459 FOXC2 forkhead box C2 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1347315 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:9106663
18341459 FOXC2 forkhead box C2 gene DOID:9007294 Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus ISO RGD:1347315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus PMID:15523639
18341459 FOXC2 forkhead box C2 gene DOID:9007692 Insulin Resistance ISO RGD:1347315 D RGD:9068941 20211008 RGD DNA:polymorphism:5'ut:-512C>T PMID:12453913|REF_RGD_ID:1601219
18341459 FOXC2 forkhead box C2 gene DOID:9008386 Hydrops Fetalis ISO RGD:1347315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868
18341459 FOXC2 forkhead box C2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347315 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:9106663|PMID:9409679
18341459 FOXC2 forkhead box C2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347315 D RGD:9068941 20211008 RGD DNA:insertion:1006insA PMID:15523639|REF_RGD_ID:1601217
18341459 FOXC2 forkhead box C2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1347315 D RGD:9068941 20211008 RGD DNA:polymorphism:5'ut:-512C>T,-350G>T, 3'ut:1548C>T PMID:12540636|REF_RGD_ID:1601220
18341459 FOXC2 forkhead box C2 gene DOID:9970 obesity ISO RGD:1347315 D RGD:9068941 20211008 RGD DNA:polymorphism:5'ut:-512C>T(human) PMID:15601967|REF_RGD_ID:1601218
18341464 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
18341464 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:0111823 autosomal hemophilia A ISO RGD:1344879 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
18341464 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:12134 factor VIII deficiency ISO RGD:1344879 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
18341464 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:12849 autistic disorder ISO RGD:1344879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18341464 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734446 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277
18341505 ANGPTL6 angiopoietin like 6 gene DOID:0080600 COVID-19 ISO RGD:1322443 D RGD:9068941 20211008 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18341505 ANGPTL6 angiopoietin like 6 gene DOID:11714 gestational diabetes ISO RGD:1322443 D RGD:9068941 20230601 RGD protein:increased expression:blood serum,umbilical artery (human) PMID:35876300|REF_RGD_ID:329845845
18341505 ANGPTL6 angiopoietin like 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1322443 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28284560
18341505 ANGPTL6 angiopoietin like 6 gene DOID:9970 obesity ISO RGD:1322444 D RGD:9068941 20220825 MouseDO OMIM:601665
18341556 GADD45G growth arrest and DNA damage inducible gamma gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:1311796 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:kidney PMID:16736195|REF_RGD_ID:14700866
18341569 SERPINB6 serpin family B member 6 gene DOID:0050439 Usher syndrome ISO RGD:1348161 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386
18341569 SERPINB6 serpin family B member 6 gene DOID:0110536 autosomal recessive nonsyndromic deafness 91 ISO RGD:1348161 D RGD:7240710 20200205 OMIM
18341569 SERPINB6 serpin family B member 6 gene DOID:0110536 autosomal recessive nonsyndromic deafness 91 ISO RGD:1348161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91 | ClinVar Annotator: match by term: Deafness, autosomal recessive 91 | ClinVar Annotator: match by term: SERPINB6-related condition PMID:17576681|PMID:20451170|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
18341569 SERPINB6 serpin family B member 6 gene DOID:9004538 Hearing Loss ISO RGD:1348161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386
18341569 SERPINB6 serpin family B member 6 gene DOID:9004657 Weight Gain ISO RGD:1552475 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19030233
18341594 ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:732422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532
18341594 ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 gene DOID:684 hepatocellular carcinoma ISO RGD:732422 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19363144
18341633 SMOC1 SPARC related modular calcium binding 1 gene DOID:0060861 microphthalmia with limb anomalies ISO RGD:1348217 D RGD:7240710 20200205 OMIM
18341633 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
18341633 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
18341633 SMOC1 SPARC related modular calcium binding 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348217 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
18341773 ACOD1 aconitate decarboxylase 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:2292071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
18341773 ACOD1 aconitate decarboxylase 1 gene DOID:1107 esophageal carcinoma ISO RGD:2292071 D RGD:9068941 20250116 RGD mRNA:increased expression:esophagus (human) PMID:37793345|REF_RGD_ID:596992333
18341773 ACOD1 aconitate decarboxylase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:2292071 D RGD:9068941 20250116 RGD mRNA:increased expression:cranioceervical (human) PMID:37793345|REF_RGD_ID:596992333
18341773 ACOD1 aconitate decarboxylase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:2292071 D RGD:9068941 20250116 RGD mRNA:increased expression:macrophage (human) PMID:37793345|REF_RGD_ID:596992333
18341773 ACOD1 aconitate decarboxylase 1 gene DOID:9008344 Invasive Breast Carcinoma ISO RGD:2292071 D RGD:9068941 20250116 RGD mRNA, protein:increased expression:breast cancer tumor (human) PMID:37793345|REF_RGD_ID:596992333
18341787 ARID5B AT-rich interaction domain 5B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323345 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23685749
18341787 ARID5B AT-rich interaction domain 5B gene DOID:12361 Graves' disease ISO RGD:1323345 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22446963
18341787 ARID5B AT-rich interaction domain 5B gene DOID:2513 basal cell carcinoma ISO RGD:1323345 D RGD:9068941 20240606 CTD CTD Direct Evidence: marker/mechanism PMID:36428691
18341787 ARID5B AT-rich interaction domain 5B gene DOID:7148 rheumatoid arthritis ISO RGD:1323345 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22446963|PMID:23143596
18341787 ARID5B AT-rich interaction domain 5B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323345 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:24712521
18341787 ARID5B AT-rich interaction domain 5B gene DOID:9006951 Autosomal Dominant Intellectual Developmental Disorder 70 ISO RGD:1323345 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 PMID:25741868
18341787 ARID5B AT-rich interaction domain 5B gene DOID:9008086 Developmental Disabilities ISO RGD:1323345 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868
18341787 ARID5B AT-rich interaction domain 5B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1323345 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19684603|PMID:19684604
18341844 ANK2 ankyrin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:28492532
18341844 ANK2 ankyrin 2 gene DOID:0050451 Brugada syndrome ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23631430|PMID:23861362|PMID:25741868|PMID:26230511|PMID:28492532|PMID:30847666
18341844 ANK2 ankyrin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317291 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12571597|PMID:15075330|PMID:15178757|PMID:16253912|PMID:17161064|PMID:17242276|PMID:18782775|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23631430|PMID:23861362|PMID:24448499|PMID:24828792|PMID:25351510|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26168218|PMID:26230511|PMID:27298202|PMID:27435932|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28750076|PMID:28988457|PMID:30276209|PMID:30615648|PMID:31638414|PMID:33029862
18341844 ANK2 ankyrin 2 gene DOID:0050790 fibular hypoplasia and complex brachydactyly ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Du pan syndrome PMID:228900|PMID:258150
18341844 ANK2 ankyrin 2 gene DOID:0050824 sinoatrial node disease ISO RGD:1620669 D RGD:9068941 20220825 MouseDO
18341844 ANK2 ankyrin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545
18341844 ANK2 ankyrin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:17161064|PMID:23861362|PMID:24448499|PMID:25649125|PMID:25741868|PMID:26159999|PMID:28492532
18341844 ANK2 ankyrin 2 gene DOID:0060224 atrial fibrillation onset ISO RGD:1317291 D RGD:9068941 20211008 RGD PMID:21859974|REF_RGD_ID:6767284
18341844 ANK2 ankyrin 2 gene DOID:0060319 cardiac arrest ISO RGD:1317291 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868|PMID:28492532|PMID:28600387|PMID:36413997
18341844 ANK2 ankyrin 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317291 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:16253912|PMID:22581653|PMID:25351510|PMID:25741868|PMID:26771585|PMID:28191889|PMID:28492532|PMID:28518168|PMID:30564305|PMID:32461654|PMID:33004838
18341844 ANK2 ankyrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317291 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:16253912|PMID:22581653|PMID:25351510|PMID:25741868|PMID:26771585|PMID:28191889|PMID:28492532|PMID:28518168|PMID:30564305|PMID:32461654|PMID:33004838
18341844 ANK2 ankyrin 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:228900|PMID:258150
18341844 ANK2 ankyrin 2 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1317291 D RGD:8554872 20240625 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:28492532
18341844 ANK2 ankyrin 2 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1317291 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:25741868
18341844 ANK2 ankyrin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1317291 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:18832177|PMID:22581653|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26350513|PMID:26771585|PMID:28074886|PMID:28191889|PMID:28341588|PMID:28492532|PMID:28518168|PMID:28988457|PMID:29247119|PMID:29431110|PMID:29790872|PMID:30564305|PMID:31862442|PMID:32461654
18341844 ANK2 ankyrin 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:1317291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:12571597|PMID:15178757|PMID:17242276|PMID:25741868|PMID:26230511|PMID:28492532
18341844 ANK2 ankyrin 2 gene DOID:0111700 ankyrin-B-related cardiac arrhythmia ISO RGD:1317291 D RGD:7240710 20200205 OMIM
18341844 ANK2 ankyrin 2 gene DOID:0111700 ankyrin-B-related cardiac arrhythmia ISO RGD:1317291 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ANK2-associated Complex Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-related Autism | ClinVar Annotator: match by term: ANK2-related condition | ClinVar Annotator: match by term: ANKYRIN-B SYNDROME | ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin-B-related | ClinVar Annotator: match by term: Long QT syndrome 4 PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:25333069|PMID:25351510|PMID:25363760|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25741868|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27110552|PMID:27112610|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28518168|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29784605|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30086531|PMID:30276209|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32461654|PMID:32746448|PMID:33004838|PMID:33029862|PMID:34088380|PMID:36413997|PMID:9536098
18341844 ANK2 ankyrin 2 gene DOID:0111701 long QT syndrome 4 ISO RGD:1317291 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ANK2-associated Complex Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-related Autism | ClinVar Annotator: match by term: Long QT syndrome 4 PMID:12571597|PMID:15075330|PMID:15178757|PMID:16253912|PMID:18782775|PMID:18832177|PMID:22581653|PMID:23631430|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25363760|PMID:25741868|PMID:26159999|PMID:26350513|PMID:27435932|PMID:28074886|PMID:28492532|PMID:28518168|PMID:28988457|PMID:29247119|PMID:29431110|PMID:29790872|PMID:30615648|PMID:32461654
18341844 ANK2 ankyrin 2 gene DOID:1059 intellectual disability ISO RGD:1317291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23396983|PMID:25351510|PMID:25741868|PMID:28255936|PMID:28492532|PMID:30847666
18341844 ANK2 ankyrin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12571597|PMID:15178757|PMID:17242276|PMID:22581653|PMID:23174487|PMID:25741868|PMID:26230511|PMID:28492532|PMID:28589536|PMID:28988457|PMID:30276209|PMID:31638414
18341844 ANK2 ankyrin 2 gene DOID:12271 aniridia ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia
18341844 ANK2 ankyrin 2 gene DOID:12849 autistic disorder ISO RGD:1620669 D RGD:9068941 20250109 MouseDO OMIM:209850
18341844 ANK2 ankyrin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317291 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28341588|PMID:28492532|PMID:30415094|PMID:33004838
18341844 ANK2 ankyrin 2 gene DOID:13884 sick sinus syndrome susceptibility ISO RGD:1317291 D RGD:9068941 20211008 RGD PMID:15178757|REF_RGD_ID:1599114
18341844 ANK2 ankyrin 2 gene DOID:224 transient cerebral ischemia ISO RGD:620156 D RGD:9068941 20211008 RGD PMID:9202331|REF_RGD_ID:1599109
18341844 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26230511|PMID:26350513|PMID:27110552|PMID:27298202|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27854218|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:29874177|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:7485162|PMID:9536098
18341844 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31862442|PMID:33004838|PMID:33029862|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098
18341844 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31862442|PMID:33004838|PMID:33029862|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098
18341844 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16199547|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27854218|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32233023|PMID:32600061|PMID:32746448|PMID:33004838|PMID:33029862|PMID:33762593|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098
18341844 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16199547|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32233023|PMID:32508047|PMID:32600061|PMID:32746448|PMID:33004838|PMID:33029862|PMID:33762593|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098
18341844 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16199547|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27112610|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27650965|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28518168|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29784605|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31130284|PMID:31264976|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32233023|PMID:32461654|PMID:32508047|PMID:32600061|PMID:32746448|PMID:33004838|PMID:33029862|PMID:33762593|PMID:33919104|PMID:34088380|PMID:36413997|PMID:37195288|PMID:9536098
18341844 ANK2 ankyrin 2 gene DOID:2843 long QT syndrome susceptibility ISO RGD:1317291 D RGD:9068941 20211008 RGD PMID:12571597|REF_RGD_ID:734572
18341844 ANK2 ankyrin 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:28492532
18341844 ANK2 ankyrin 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317291 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28191889|PMID:28492532|PMID:32233023
18341844 ANK2 ankyrin 2 gene DOID:6000 congestive heart failure ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532
18341844 ANK2 ankyrin 2 gene DOID:630 genetic disease ISO RGD:1317291 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15262991|PMID:18790697|PMID:25741868
18341844 ANK2 ankyrin 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:23861362|PMID:25741868|PMID:27871843|PMID:28492532
18341844 ANK2 ankyrin 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: RYR2-related condition PMID:11334825|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17928548|PMID:17940615|PMID:18782775|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:25333069|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26168218|PMID:27298202|PMID:27435932|PMID:28074886|PMID:28492532|PMID:30615648
18341844 ANK2 ankyrin 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:11334825|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:17242276|PMID:17261669|PMID:22581653|PMID:23861362|PMID:25333069|PMID:25741868|PMID:28492532
18341844 ANK2 ankyrin 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1317291 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:17928548|PMID:17940615|PMID:18832177|PMID:19394342|PMID:22411828|PMID:22581653|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24981977|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26350513|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28518168|PMID:28988457|PMID:29247119|PMID:29431110|PMID:29790872|PMID:32461654|PMID:33919104
18341844 ANK2 ankyrin 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:25741868|PMID:26230511|PMID:28492532|PMID:30847666
18341844 ANK2 ankyrin 2 gene DOID:9002955 Nerve Degeneration ISO RGD:620156 D RGD:9068941 20211008 RGD PMID:12949909|REF_RGD_ID:1599116
18341844 ANK2 ankyrin 2 gene DOID:9003163 Heart Block ISO RGD:1317291 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:17928548|PMID:17940615|PMID:18832177|PMID:19394342|PMID:22411828|PMID:22581653|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24981977|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26350513|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28518168|PMID:28988457|PMID:29247119|PMID:29431110|PMID:29790872|PMID:32461654|PMID:33919104
18341844 ANK2 ankyrin 2 gene DOID:9003516 Channelopathies ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Channelopathy
18341844 ANK2 ankyrin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317291 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:18790697|PMID:25741868|PMID:28191889|PMID:28554332|PMID:33087701|PMID:35990955
18341844 ANK2 ankyrin 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1317291 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:18832177|PMID:22581653|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26350513|PMID:26771585|PMID:28074886|PMID:28191889|PMID:28341588|PMID:28492532|PMID:28518168|PMID:28988457|PMID:29247119|PMID:29431110|PMID:29790872|PMID:30564305|PMID:31862442|PMID:32461654
18341844 ANK2 ankyrin 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1317291 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28191889|PMID:28492532|PMID:33004838
18341844 ANK2 ankyrin 2 gene DOID:9005444 Torsades de Pointes ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:17161064|PMID:22581653
18341844 ANK2 ankyrin 2 gene DOID:9006030 Infant Death ISO RGD:1317291 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:15075330|PMID:15178757|PMID:16253912|PMID:18782775|PMID:22581653|PMID:23631430|PMID:23861362|PMID:25351510|PMID:25741868|PMID:27435932|PMID:28492532|PMID:30615648
18341844 ANK2 ankyrin 2 gene DOID:9007096 Stroke ISO RGD:1317291 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29531354
18341844 ANK2 ankyrin 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620156 D RGD:9068941 20211008 RGD PMID:9378703|REF_RGD_ID:1599110
18341844 ANK2 ankyrin 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:28492532
18341844 ANK2 ankyrin 2 gene DOID:9849 Meniere's disease ISO RGD:1317291 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25741868|PMID:28492532
18341977 SLC43A2 solute carrier family 43 member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350504 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
18342031 SP110 SP110 nuclear body protein gene DOID:0060476 Perlman syndrome ISO RGD:1320919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532
18342031 SP110 SP110 nuclear body protein gene DOID:0110991 Joubert syndrome 22 ISO RGD:1320919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532
18342031 SP110 SP110 nuclear body protein gene DOID:0112254 hepatic venoocclusive disease with immunodeficiency ISO RGD:1320919 D RGD:7240710 20250129 OMIM
18342031 SP110 SP110 nuclear body protein gene DOID:0112254 hepatic venoocclusive disease with immunodeficiency ISO RGD:1320919 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency | ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome | ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency PMID:16199547|PMID:16648851|PMID:16803959|PMID:16816019|PMID:17149599|PMID:17510920|PMID:17576681|PMID:19780822|PMID:20301448|PMID:21536091|PMID:22621957|PMID:23448538|PMID:24033266|PMID:25741868|PMID:27577878|PMID:28492532|PMID:28825155|PMID:32888943|PMID:9536098
18342031 SP110 SP110 nuclear body protein gene DOID:399 tuberculosis ISO RGD:1320919 D RGD:7240710 20250129 OMIM
18342031 SP110 SP110 nuclear body protein gene DOID:399 tuberculosis ISO RGD:1320919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:16803959|PMID:16816019|PMID:17149599|PMID:24033266|PMID:25741868|PMID:28492532
18342031 SP110 SP110 nuclear body protein gene DOID:630 genetic disease ISO RGD:1320919 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18342078 AHCY adenosylhomocysteinase gene DOID:0050544 hypermethioninemia ISO RGD:731745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypermethioninemia PMID:25741868
18342078 AHCY adenosylhomocysteinase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:731745 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29127188
18342078 AHCY adenosylhomocysteinase gene DOID:0080699 glutathione synthetase deficiency ISO RGD:731745 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA PMID:12638941|PMID:15717202|PMID:28492532
18342078 AHCY adenosylhomocysteinase gene DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria ISO RGD:731745 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY PMID:12638941|PMID:15717202|PMID:28492532
18342078 AHCY adenosylhomocysteinase gene DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ISO RGD:731745 D RGD:7240710 20200205 OMIM
18342078 AHCY adenosylhomocysteinase gene DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ISO RGD:731745 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase PMID:15024124|PMID:16435181|PMID:16736098|PMID:16872278|PMID:17576681|PMID:18211827|PMID:19177456|PMID:19619139|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25473036|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:29205322|PMID:31957987|PMID:33072517|PMID:9536098
18342078 AHCY adenosylhomocysteinase gene DOID:10763 hypertension ISO RGD:736014 D RGD:9068941 20211008 RGD associated with hyperhomocysteinemia PMID:16815886|REF_RGD_ID:1601153
18342078 AHCY adenosylhomocysteinase gene DOID:2843 long QT syndrome ISO RGD:731745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532
18342078 AHCY adenosylhomocysteinase gene DOID:3910 lung adenocarcinoma ISO RGD:731745 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27602772
18342078 AHCY adenosylhomocysteinase gene DOID:630 genetic disease ISO RGD:731745 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15024124|PMID:16435181|PMID:16736098|PMID:16872278|PMID:18211827|PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25473036|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:29205322|PMID:33072517
18342078 AHCY adenosylhomocysteinase gene DOID:7693 abdominal aortic aneurysm susceptibility ISO RGD:731745 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes:intron: (rs819146, rs7271501) (human) PMID:18635682|REF_RGD_ID:329853746
18342078 AHCY adenosylhomocysteinase gene DOID:8455 pyridoxine deficiency anemia ISO RGD:69260 D RGD:9068941 20211008 RGD PMID:11575573|REF_RGD_ID:1598897
18342078 AHCY adenosylhomocysteinase gene DOID:893 Wilson disease ISO RGD:731745 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23519153
18342078 AHCY adenosylhomocysteinase gene DOID:9000884 Rhabdomyolysis ISO RGD:731745 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:15024124|PMID:16435181|PMID:16736098|PMID:16872278|PMID:18211827|PMID:25473036|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:33072517
18342078 AHCY adenosylhomocysteinase gene DOID:9002457 Experimental Arthritis ISO RGD:69260 D RGD:9068941 20211008 RGD PMID:11123369|REF_RGD_ID:1598898
18342078 AHCY adenosylhomocysteinase gene DOID:9002669 Hypoxia ISO RGD:731745 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19579223
18342078 AHCY adenosylhomocysteinase gene DOID:9003386 Sunburn ISO RGD:731745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR PMID:11833005|PMID:18488028
18342078 AHCY adenosylhomocysteinase gene DOID:9003687 Multisystem Autoimmune Disease with Facial Dysmorphism ISO RGD:731745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM PMID:28492532
18342078 AHCY adenosylhomocysteinase gene DOID:9005453 Obesity and Hypopigmentation ISO RGD:731745 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Obesity and hypopigmentation PMID:36536132
18342078 AHCY adenosylhomocysteinase gene DOID:9006205 Animal Disease Models ISO RGD:731745 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27602772
18342078 AHCY adenosylhomocysteinase gene DOID:9252 amino acid metabolic disorder ISO RGD:731745 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15024124
18342078 AHCY adenosylhomocysteinase gene DOID:9279 hyperhomocysteinemia ISO RGD:69260 D RGD:9068941 20211008 RGD PMID:12208805|REF_RGD_ID:1598896
18342101 MOB1A MOB kinase activator 1A gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315956 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
18342101 MOB1A MOB kinase activator 1A gene DOID:543 dystonia ISO RGD:1315956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498
18342101 MOB1A MOB kinase activator 1A gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315956 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
18342115 TLN1 talin 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1314756 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868
18342115 TLN1 talin 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ISO RGD:1314756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532
18342115 TLN1 talin 1 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532
18342115 TLN1 talin 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1314756 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532
18342115 TLN1 talin 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532
18342115 TLN1 talin 1 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532
18342115 TLN1 talin 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532
18342115 TLN1 talin 1 gene DOID:11476 osteoporosis ISO RGD:1314756 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18924182
18342115 TLN1 talin 1 gene DOID:14400 capillary leak syndrome ISO RGD:1314756 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Capillary leak syndrome PMID:25741868
18342115 TLN1 talin 1 gene DOID:607 paraplegia ISO RGD:1314756 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:23332916|PMID:23332917|PMID:28492532
18342115 TLN1 talin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314756 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21291860
18342115 TLN1 talin 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314756 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532
18342115 TLN1 talin 1 gene DOID:9870 galactosemia ISO RGD:1314756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532
18342192 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0050857 Perrault syndrome ISO RGD:1352732 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:21464306|PMID:25741868|PMID:28492532|PMID:31827252|PMID:517579
18342192 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1352732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532
18342192 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352732 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
18342192 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0110842 Usher syndrome type 3B ISO RGD:1352732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3B PMID:28492532
18342192 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1352732 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532|PMID:31827252
18342192 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1352732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532
18342192 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:8501 fundus dystrophy ISO RGD:1352732 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868
18342192 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9002768 Perrault Syndrome 2 ISO RGD:1352732 D RGD:7240710 20200205 OMIM
18342192 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9002768 Perrault Syndrome 2 ISO RGD:1352732 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: HARS2-related condition | ClinVar Annotator: match by term: Perrault syndrome 2 PMID:21464306|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31449985|PMID:31486067|PMID:31827252|PMID:34416374|PMID:517579
18342192 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18342192 HARS2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352732 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
18342225 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:732310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532
18342225 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:732310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307
18342225 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0070508 metabolic dysfunction and alcohol associated liver disease ISO RGD:3297 D RGD:9068941 20211008 RGD PMID:17156888|REF_RGD_ID:1642369
18342225 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:732310 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29416063
18342225 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:732310 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532
18342225 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:0110980 Joubert syndrome 1 ISO RGD:732310 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532
18342225 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:12849 autistic disorder ISO RGD:732310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18342225 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:5082 liver cirrhosis ISO RGD:732310 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29416063
18342225 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3297 D RGD:9068941 20211008 RGD protein:decreased expression:liver PMID:7929120|REF_RGD_ID:1642378
18342225 PEMT phosphatidylethanolamine N-methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3297 D RGD:9068941 20211008 RGD protein:increased expression:liver PMID:17116711|REF_RGD_ID:1642370
18342268 NTSR2 neurotensin receptor 2 gene DOID:5419 schizophrenia ISO RGD:733351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18342268 NTSR2 neurotensin receptor 2 gene DOID:9006302 Binge Drinking ISO RGD:70962 D RGD:9068941 20250111 RGD mRNA,protein:altered expression:anterior paraventricular nucleus of thalamus PMID:32623746|REF_RGD_ID:596948426
18342302 OSBP oxysterol binding protein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1317627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532
18342302 OSBP oxysterol binding protein gene DOID:1059 intellectual disability ISO RGD:1317627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18342302 OSBP oxysterol binding protein gene DOID:12206 dengue hemorrhagic fever ISO RGD:1317627 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:28241052|REF_RGD_ID:41404654
18342302 OSBP oxysterol binding protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1308069 D RGD:9068941 20211008 RGD protein:increased tyrosine phosphorylation:aorta PMID:18230613|REF_RGD_ID:2291921
18342302 OSBP oxysterol binding protein gene DOID:9005775 Perinatal Asphyxia ISO RGD:1308069 D RGD:9068941 20230302 RGD PMID:23625371|REF_RGD_ID:156431056
18342302 OSBP oxysterol binding protein gene DOID:9007661 Dwarfism ISO RGD:1317627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature
18342302 OSBP oxysterol binding protein gene DOID:9256 colorectal cancer ISO RGD:1317627 D RGD:9068941 20211008 RGD PMID:21999571|REF_RGD_ID:41404653
18342322 DNAH7 dynein axonemal heavy chain 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1317528 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546
18342322 DNAH7 dynein axonemal heavy chain 7 gene DOID:1826 epilepsy ISO RGD:1317528 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure
18342322 DNAH7 dynein axonemal heavy chain 7 gene DOID:9003633 Primary Ciliary Dyskinesia 50 ISO RGD:1317528 D RGD:7240710 20230505 OMIM
18342322 DNAH7 dynein axonemal heavy chain 7 gene DOID:9003633 Primary Ciliary Dyskinesia 50 ISO RGD:1317528 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 50 | ClinVar Annotator: match by term: DNAH7-related condition PMID:24033266|PMID:25741868|PMID:28492532|PMID:34476482|PMID:35543642
18342322 DNAH7 dynein axonemal heavy chain 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18342322 DNAH7 dynein axonemal heavy chain 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317528 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532
18342407 MAPDA N6-Methyl-AMP deaminase gene DOID:2717 Bloom syndrome ISO RGD:1605272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
18342407 MAPDA N6-Methyl-AMP deaminase gene DOID:9256 colorectal cancer ISO RGD:1605272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
18342444 APOD apolipoprotein D gene DOID:10652 Alzheimer's disease ISO RGD:737460 D RGD:9068941 20211008 RGD protein:increased expression:cerebrospinal fluid, hippocampus PMID:9751198|REF_RGD_ID:2311209
18342444 APOD apolipoprotein D gene DOID:11714 gestational diabetes ISO RGD:737460 D RGD:9068941 20211008 RGD PMID:6828336|REF_RGD_ID:2311180
18342444 APOD apolipoprotein D gene DOID:1289 neurodegenerative disease ISO RGD:737460 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:18458334
18342444 APOD apolipoprotein D gene DOID:1824 status epilepticus ISO RGD:2137 D RGD:9068941 20211008 RGD mRNA:increased expression:hippocampus PMID:10372566|REF_RGD_ID:2311203
18342444 APOD apolipoprotein D gene DOID:3070 high grade glioma ISO RGD:737460 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16865689
18342444 APOD apolipoprotein D gene DOID:4762 vasculogenic impotence ISO RGD:2137 D RGD:9068941 20211008 RGD mRNA:increased expression:penis erectile tissue PMID:11444882|REF_RGD_ID:2311196
18342444 APOD apolipoprotein D gene DOID:8927 learning disability ISO RGD:737460 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18419796
18342444 APOD apolipoprotein D gene DOID:9000831 Hypokinesia ISO RGD:737460 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21688324
18342444 APOD apolipoprotein D gene DOID:9000998 Brain Injuries ISO RGD:2137 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:cerebral cortex, glia cell, neuron PMID:10501208|REF_RGD_ID:2311202
18342444 APOD apolipoprotein D gene DOID:9007096 Stroke ISO RGD:2137 D RGD:9068941 20211008 RGD PMID:17851453|REF_RGD_ID:2311182
18342444 APOD apolipoprotein D gene DOID:9352 type 2 diabetes mellitus ISO RGD:737460 D RGD:9068941 20211008 RGD PMID:15369805|REF_RGD_ID:2311177
18342444 APOD apolipoprotein D gene DOID:9352 type 2 diabetes mellitus ISO RGD:737460 D RGD:9068941 20211008 RGD DNA:polymorphism PMID:7895459|REF_RGD_ID:2311178
18342444 APOD apolipoprotein D gene DOID:9970 obesity ISO RGD:737460 D RGD:9068941 20211008 RGD DNA:polymorphism PMID:7913935|REF_RGD_ID:2311179
18342457 SKAP2 src kinase associated phosphoprotein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
18342457 SKAP2 src kinase associated phosphoprotein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345057 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:68607 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26457647
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:68607 D RGD:7240710 20200205 OMIM
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:68607 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:15705783|PMID:20843259|PMID:21990094|PMID:24777453|PMID:25741868|PMID:27449473|PMID:27651169|PMID:28484264|PMID:29590070|PMID:31173385|PMID:35281324|PMID:38924136
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:68607 D RGD:9068941 20220728 RGD protein:decreased expression:colorectum (human) PMID:31706103|REF_RGD_ID:153297781
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:10763 hypertension ISO RGD:68411 D RGD:9068941 20211008 RGD PMID:25776069|REF_RGD_ID:13442483
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:12306 vitiligo ISO RGD:68607 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22561518
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:2224 essential thrombocythemia ISO RGD:68607 D RGD:7240710 20200205 OMIM
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:2224 essential thrombocythemia ISO RGD:68607 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1 PMID:15705783|PMID:20404132|PMID:21990094|PMID:23812944|PMID:24777453|PMID:25741868|PMID:27449473|PMID:27651169|PMID:28484264|PMID:29590070|PMID:31173385|PMID:31298594|PMID:35281324|PMID:38924136
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:2228 thrombocytosis ISO RGD:68607 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:3393 coronary artery disease ISO RGD:68607 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21378990
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:4971 myelofibrosis ISO RGD:68607 D RGD:7240710 20200205 OMIM
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:4971 myelofibrosis ISO RGD:68607 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis PMID:20404132|PMID:21990094|PMID:24777453|PMID:25741868|PMID:27651169|PMID:31173385
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:5844 myocardial infarction ISO RGD:68607 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19198610
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:630 genetic disease ISO RGD:68607 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:687 hepatoblastoma ISO RGD:68607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:20404132|PMID:25741868
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:8432 polycythemia ISO RGD:68607 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:15705783|PMID:20843259|PMID:21990094|PMID:24777453|PMID:25741868|PMID:27449473|PMID:27651169|PMID:28484264|PMID:29590070|PMID:31173385|PMID:35281324|PMID:38924136
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:8552 chronic myeloid leukemia ISO RGD:68608 D RGD:9068941 20220825 MouseDO OMIM:608232
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:9001542 Albuminuria ISO RGD:68411 D RGD:9068941 20211008 RGD PMID:25776069|REF_RGD_ID:13442483
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:9005372 Inflammation ISO RGD:68607 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:21496118
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:9006561 Familial Myelofibrosis ISO RGD:68607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial myelofibrosis PMID:25741868
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:68607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23908464|PMID:25741868|PMID:26457647|PMID:31102422|PMID:31173385
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:68607 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:20404132|PMID:23908464|PMID:25741868|PMID:26457647|PMID:31102422|PMID:31173385
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:9007096 Stroke ISO RGD:68607 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29531354
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:68411 D RGD:9068941 20211008 RGD PMID:25628389|REF_RGD_ID:12904914
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:68607 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19838195
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:9256 colorectal cancer susceptibility ISO RGD:68607 D RGD:9068941 20220728 RGD DNA:missense mutation:CDS:p.W263R (rs3184504) (human) PMID:26553438|REF_RGD_ID:11041896
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:9538 multiple myeloma ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:68607 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:30224649
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:68607 D RGD:9068941 20220728 RGD DNA:SNP: : (rs3184504) (human) PMID:21873553|REF_RGD_ID:6484692
18342502 SH2B3 SH2B adaptor protein 3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:68607 D RGD:9068941 20220728 RGD DNA:missense mutation:exon: (rs3184504) (human) PMID:21829393|REF_RGD_ID:153297780
18342566 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:1289 neurodegenerative disease ISO RGD:62199 D RGD:9068941 20211008 RGD DNA:deletion:exon: exons 5,6; males PMID:20467332|REF_RGD_ID:6482198
18342566 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:13580 cholestasis ISO RGD:1352469 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:17256725
18342566 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:1936 atherosclerosis treatment ISO RGD:62199 D RGD:9068941 20231019 RGD PMID:29593532|PMID:33011372|REF_RGD_ID:401827839|REF_RGD_ID:401842381
18342566 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:409 liver disease ISO RGD:62199 D RGD:9068941 20211008 RGD PMID:21815813|REF_RGD_ID:6480869
18342566 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352469 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21147110
18342566 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:62199 D RGD:9068941 20211008 RGD DNA:deletion:exon:exons 5 and 6, estrogen dependent PMID:20679224|REF_RGD_ID:6482195
18342566 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9002457 Experimental Arthritis ISO RGD:62199 D RGD:9068941 20211008 RGD PMID:21859686|REF_RGD_ID:6480864
18342566 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:62199 D RGD:9068941 20211008 RGD PMID:21266776|REF_RGD_ID:6480877
18342566 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9005369 Hepatomegaly ISO RGD:1352469 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28108177
18342566 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9009054 Colorectal Cancer 10 ISO RGD:1352469 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 10 PMID:28492532
18342566 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352469 D RGD:9068941 20211008 RGD PMID:20939869|REF_RGD_ID:13506790
18342566 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9970 obesity ISO RGD:1352469 D RGD:9068941 20211008 RGD PMID:20939869|REF_RGD_ID:13506790
18342566 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9970 obesity ISO RGD:1352469 D RGD:9068941 20211008 RGD DNA:polymorphism:multiple PMID:17108812|REF_RGD_ID:1626248
18342566 NR1H2 nuclear receptor subfamily 1 group H member 2 gene DOID:9970 obesity disease_progression ISO RGD:61906 D RGD:9068941 20211008 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599
18342584 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ISO RGD:1604801 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly PMID:25741868
18342584 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:0111947 immunodeficiency 21 ISO RGD:1604801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532
18342584 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:1059 intellectual disability ISO RGD:1604801 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:25741868
18342584 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1604801 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28166215
18342584 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:31710708
18342584 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:9270 alkaptonuria ISO RGD:1604801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532
18342598 TMEM174 transmembrane protein 174 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18342609 PGM5 phosphoglucomutase 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346061 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19565504
18342625 TRRAP transformation/transcription domain associated protein gene DOID:0112166 autosomal dominant nonsyndromic deafness 75 ISO RGD:1313479 D RGD:7240710 20200226 OMIM
18342625 TRRAP transformation/transcription domain associated protein gene DOID:0112166 autosomal dominant nonsyndromic deafness 75 ISO RGD:1313479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 75 PMID:25741868|PMID:28492532|PMID:31231791
18342625 TRRAP transformation/transcription domain associated protein gene DOID:10283 prostate cancer ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
18342625 TRRAP transformation/transcription domain associated protein gene DOID:1909 melanoma ISO RGD:1313479 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21499247
18342625 TRRAP transformation/transcription domain associated protein gene DOID:3307 teratoma ISO RGD:1313479 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Teratoma PMID:25741868
18342625 TRRAP transformation/transcription domain associated protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
18342625 TRRAP transformation/transcription domain associated protein gene DOID:5419 schizophrenia ISO RGD:1313479 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21822266|PMID:23042115
18342625 TRRAP transformation/transcription domain associated protein gene DOID:630 genetic disease ISO RGD:1313479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30827496
18342625 TRRAP transformation/transcription domain associated protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18342625 TRRAP transformation/transcription domain associated protein gene DOID:9008086 Developmental Disabilities ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741898
18342625 TRRAP transformation/transcription domain associated protein gene DOID:9008582 Developmental Disease ISO RGD:1313479 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532
18342625 TRRAP transformation/transcription domain associated protein gene DOID:9009182 Developmental Delay with or without Dysmorphic Facies and Autism ISO RGD:1313479 D RGD:7240710 20200205 OMIM
18342625 TRRAP transformation/transcription domain associated protein gene DOID:9009182 Developmental Delay with or without Dysmorphic Facies and Autism ISO RGD:1313479 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism | ClinVar Annotator: match by term: TRRAP-related disorder | ClinVar Annotator: match by term: TRRAP-related neurodevelopmental disorder PMID:17576681|PMID:25741868|PMID:28492532|PMID:30424743|PMID:30827496|PMID:9536098
18342732 TSPAN12 tetraspanin 12 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1322379 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:25250762|PMID:25741868|PMID:28041643|PMID:28492532
18342732 TSPAN12 tetraspanin 12 gene DOID:0060844 Norrie disease ISO RGD:1322379 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:25250762|PMID:25741868
18342732 TSPAN12 tetraspanin 12 gene DOID:0111408 exudative vitreoretinopathy 5 ISO RGD:1322379 D RGD:7240710 20200205 OMIM
18342732 TSPAN12 tetraspanin 12 gene DOID:0111408 exudative vitreoretinopathy 5 ISO RGD:1322379 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 5 | ClinVar Annotator: match by term: TSPAN12-related condition PMID:15665352|PMID:20159111|PMID:20159112|PMID:21334594|PMID:21552475|PMID:22427576|PMID:25250762|PMID:25352738|PMID:25741868|PMID:28002565|PMID:28041643|PMID:28492532|PMID:28494495|PMID:31106028|PMID:31987760|PMID:34738848
18342732 TSPAN12 tetraspanin 12 gene DOID:308 early myoclonic encephalopathy ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:28492532
18342732 TSPAN12 tetraspanin 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
18342732 TSPAN12 tetraspanin 12 gene DOID:5723 optic atrophy ISO RGD:1322379 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868
18342732 TSPAN12 tetraspanin 12 gene DOID:630 genetic disease ISO RGD:1322379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
18342732 TSPAN12 tetraspanin 12 gene DOID:8501 fundus dystrophy ISO RGD:1322379 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:20159112|PMID:21334594|PMID:25741868|PMID:27316669|PMID:28492532|PMID:9536098
18342732 TSPAN12 tetraspanin 12 gene DOID:9002174 Disease Susceptibility ISO RGD:1322379 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20130021
18342732 TSPAN12 tetraspanin 12 gene DOID:9005204 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ISO RGD:1322379 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive PMID:25250762|PMID:25741868
18342747 ARMS2 age-related maculopathy susceptibility 2 gene DOID:0110020 age related macular degeneration 8 ISO RGD:1606093 D RGD:7240710 20200205 OMIM
18342747 ARMS2 age-related maculopathy susceptibility 2 gene DOID:0110020 age related macular degeneration 8 ISO RGD:1606093 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 8 PMID:16174643|PMID:16642439|PMID:16936732|PMID:17884985|PMID:19259132|PMID:21670343|PMID:22491416|PMID:23455636|PMID:25741868
18342747 ARMS2 age-related maculopathy susceptibility 2 gene DOID:0111036 CADASIL2 ISO RGD:1606093 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 PMID:25741868
18342747 ARMS2 age-related maculopathy susceptibility 2 gene DOID:2340 craniosynostosis ISO RGD:1606093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721
18342747 ARMS2 age-related maculopathy susceptibility 2 gene DOID:4448 macular degeneration ISO RGD:1606093 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18316707|PMID:20437615|PMID:22491416|PMID:25741868|PMID:26467025|PMID:28492532
18342747 ARMS2 age-related maculopathy susceptibility 2 gene DOID:9001147 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy ISO RGD:1606093 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: CARASIL syndrome PMID:18316707|PMID:20437615|PMID:25741868|PMID:26467025|PMID:28492532
18342747 ARMS2 age-related maculopathy susceptibility 2 gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:1606093 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase PMID:20547083|PMID:26284228|PMID:28492532
18342761 SLC6A9 solute carrier family 6 member 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732096 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532|PMID:31584066
18342761 SLC6A9 solute carrier family 6 member 9 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532
18342761 SLC6A9 solute carrier family 6 member 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732096 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532|PMID:31584066
18342761 SLC6A9 solute carrier family 6 member 9 gene DOID:10283 prostate cancer ISO RGD:732096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532
18342761 SLC6A9 solute carrier family 6 member 9 gene DOID:630 genetic disease ISO RGD:732096 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18342761 SLC6A9 solute carrier family 6 member 9 gene DOID:670 amphetamine abuse ISO RGD:732096 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17582620
18342761 SLC6A9 solute carrier family 6 member 9 gene DOID:9007710 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE ISO RGD:732096 D RGD:7240710 20200205 OMIM
18342761 SLC6A9 solute carrier family 6 member 9 gene DOID:9007710 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE ISO RGD:732096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycine encephalopathy with normal serum glycine PMID:16199547|PMID:17576681|PMID:23265383|PMID:25741868|PMID:27481395|PMID:27773429|PMID:28492532|PMID:29190063|PMID:32712301|PMID:9536098
18342761 SLC6A9 solute carrier family 6 member 9 gene DOID:9268 glycine encephalopathy ISO RGD:732097 D RGD:9068941 20220825 MouseDO OMIM:605899
18342812 RORC RAR related orphan receptor C gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1317896 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25395965
18342812 RORC RAR related orphan receptor C gene DOID:0111940 immunodeficiency 42 ISO RGD:1317896 D RGD:7240710 20200205 OMIM
18342812 RORC RAR related orphan receptor C gene DOID:0111940 immunodeficiency 42 ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | ClinVar Annotator: match by term: Immunodeficiency 42 PMID:16199547|PMID:25741868|PMID:26160376|PMID:28492532
18342812 RORC RAR related orphan receptor C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532
18342812 RORC RAR related orphan receptor C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1317896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532
18342812 RORC RAR related orphan receptor C gene DOID:12894 Sjogren's syndrome ISO RGD:1317897 D RGD:9068941 20240425 MouseDO OMIM:270150
18342812 RORC RAR related orphan receptor C gene DOID:1540 parathyroid carcinoma ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18342812 RORC RAR related orphan receptor C gene DOID:5812 MHC class II deficiency ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532
18342812 RORC RAR related orphan receptor C gene DOID:630 genetic disease ISO RGD:1317896 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18342812 RORC RAR related orphan receptor C gene DOID:874 bacterial pneumonia severity ISO RGD:1317897 D RGD:9068941 20211008 RGD PMID:25398094|REF_RGD_ID:38501102
18342812 RORC RAR related orphan receptor C gene DOID:9002311 Experimental Autoimmune Myocarditis severity ISO RGD:1595785 D RGD:9068941 20211008 RGD PMID:28892130|REF_RGD_ID:38549573
18342812 RORC RAR related orphan receptor C gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1317897 D RGD:9068941 20211008 RGD mRNA:increased expression:placenta: PMID:21923716|REF_RGD_ID:38501105
18342812 RORC RAR related orphan receptor C gene DOID:9005372 Inflammation ISO RGD:1317896 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22325453
18342812 RORC RAR related orphan receptor C gene DOID:9007204 Dysbiosis treatment ISO RGD:1595785 D RGD:9068941 20211008 RGD PMID:32227764|REF_RGD_ID:38549571
18342812 RORC RAR related orphan receptor C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18342840 EVI5L ecotropic viral integration site 5 like gene DOID:0080490 mucolipidosis type IV ISO RGD:1347720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532
18342840 EVI5L ecotropic viral integration site 5 like gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1347720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532
18342874 PRM2 protamine 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:737276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532
18342874 PRM2 protamine 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:737276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532
18342874 PRM2 protamine 2 gene DOID:5812 MHC class II deficiency ISO RGD:737276 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:27484032|PMID:28492532|PMID:8402893|PMID:9099848
18342885 MATCAP1 microtubule associated tyrosine carboxypeptidase 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:2302259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532
18342885 MATCAP1 microtubule associated tyrosine carboxypeptidase 1 gene DOID:0080600 COVID-19 ISO RGD:2302259 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18342885 MATCAP1 microtubule associated tyrosine carboxypeptidase 1 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:2302259 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868
18342908 OSTM1 osteoclastogenesis associated transmembrane protein 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1345018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532
18342908 OSTM1 osteoclastogenesis associated transmembrane protein 1 gene DOID:0110939 autosomal recessive osteopetrosis 5 ISO RGD:1345018 D RGD:7240710 20200205 OMIM
18342908 OSTM1 osteoclastogenesis associated transmembrane protein 1 gene DOID:0110939 autosomal recessive osteopetrosis 5 ISO RGD:1345018 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: OSTM1-related condition PMID:12627228|PMID:16813530|PMID:25741868|PMID:28492532|PMID:28612835|PMID:34753502
18342908 OSTM1 osteoclastogenesis associated transmembrane protein 1 gene DOID:13533 osteopetrosis ISO RGD:1345018 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:25741868
18342908 OSTM1 osteoclastogenesis associated transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1345018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
18342924 DUS1L dihydrouridine synthase 1 like gene DOID:1826 epilepsy ISO RGD:1605962 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868
18342924 DUS1L dihydrouridine synthase 1 like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605962 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
18342952 USP26 ubiquitin specific peptidase 26 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
18342952 USP26 ubiquitin specific peptidase 26 gene DOID:0070597 X-linked spermatogenic failure 6 ISO RGD:1354275 D RGD:7240710 20230505 OMIM
18342952 USP26 ubiquitin specific peptidase 26 gene DOID:0070597 X-linked spermatogenic failure 6 ISO RGD:1354275 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 6 | ClinVar Annotator: match by term: USP26-related condition PMID:25741868|PMID:28492532|PMID:34202084
18342952 USP26 ubiquitin specific peptidase 26 gene DOID:0111823 autosomal hemophilia A ISO RGD:1354275 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
18342952 USP26 ubiquitin specific peptidase 26 gene DOID:12134 factor VIII deficiency ISO RGD:1354275 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
18342952 USP26 ubiquitin specific peptidase 26 gene DOID:12336 male infertility ISO RGD:1354275 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Male infertility
18342952 USP26 ubiquitin specific peptidase 26 gene DOID:12849 autistic disorder ISO RGD:1354275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18342952 USP26 ubiquitin specific peptidase 26 gene DOID:14228 oligospermia ISO RGD:1354275 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Oligospermia PMID:25741868|PMID:30561524|PMID:31551464
18342952 USP26 ubiquitin specific peptidase 26 gene DOID:9001513 Asthenozoospermia ISO RGD:1354275 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: asthenozoospermia PMID:25741868|PMID:30561524|PMID:31551464
18342952 USP26 ubiquitin specific peptidase 26 gene DOID:9002321 Teratozoospermia ISO RGD:1354275 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Teratozoospermia PMID:25741868|PMID:30561524|PMID:31551464
18342977 IGF1 insulin like growth factor 1 gene DOID:0050328 congenital hypothyroidism ISO RGD:2868 D RGD:9068941 20211008 RGD protein:decreased expression:serum (rat) PMID:1718729|REF_RGD_ID:12910128
18342977 IGF1 insulin like growth factor 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:2868 D RGD:9068941 20211008 RGD mRNA:decreased expression:cerebellum (rat) PMID:16909201|REF_RGD_ID:12904886
18342977 IGF1 insulin like growth factor 1 gene DOID:0050827 rheumatic heart disease ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:16406300|REF_RGD_ID:1582623
18342977 IGF1 insulin like growth factor 1 gene DOID:0060180 colitis ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:24782617
18342977 IGF1 insulin like growth factor 1 gene DOID:0080038 pycnodysostosis ISO RGD:70506 D RGD:9068941 20211008 RGD associated with Dwarfism; PMID:11474477|REF_RGD_ID:8548826
18342977 IGF1 insulin like growth factor 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:2868 D RGD:9068941 20211008 RGD associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) PMID:24275070|REF_RGD_ID:12904726
18342977 IGF1 insulin like growth factor 1 gene DOID:0080539 PEHO syndrome ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased expression:cerebrospinal fluid: PMID:11701291|REF_RGD_ID:8548849
18342977 IGF1 insulin like growth factor 1 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:19207313|REF_RGD_ID:12910858
18342977 IGF1 insulin like growth factor 1 gene DOID:0081120 Graves ophthalmopathy ISO RGD:70506 D RGD:9068941 20211008 RGD mRNA,protein:increased expression,increased excretion:orbital tissue: PMID:22159761|REF_RGD_ID:8548854
18342977 IGF1 insulin like growth factor 1 gene DOID:0111265 Boucher-Neuhauser syndrome ISO RGD:70506 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
18342977 IGF1 insulin like growth factor 1 gene DOID:10124 corneal disease ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:12824234
18342977 IGF1 insulin like growth factor 1 gene DOID:1059 intellectual disability ISO RGD:70506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868
18342977 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:10765 D RGD:9068941 20211008 RGD protein:decreased expression:hippocampus: PMID:23740209|REF_RGD_ID:10045852
18342977 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15750215
18342977 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:70506 D RGD:9068941 20211008 RGD protein:altered expression:plasma,cerebral spinal fluid: PMID:24301648|REF_RGD_ID:10045853
18342977 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:10765 D RGD:9068941 20211008 RGD protein:altered expression:plasma,cerebral spinal fluid: PMID:24301648|REF_RGD_ID:10045853
18342977 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:70506 D RGD:9068941 20211008 RGD protein:increased expression:serum: PMID:24054991|REF_RGD_ID:10045860
18342977 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:70506 D RGD:9068941 20211008 RGD DNA:polymorphism:intron: rs972936(human) PMID:23089282|REF_RGD_ID:10045854
18342977 IGF1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:10399774|REF_RGD_ID:10402576
18342977 IGF1 insulin like growth factor 1 gene DOID:10763 hypertension ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:15996002|REF_RGD_ID:1580474
18342977 IGF1 insulin like growth factor 1 gene DOID:10763 hypertension ISO RGD:2868 D RGD:9068941 20211008 RGD mRNA:increased expression:aorta (rat) PMID:8418983|REF_RGD_ID:12904968
18342977 IGF1 insulin like growth factor 1 gene DOID:10763 hypertension ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19502719|PMID:22228705
18342977 IGF1 insulin like growth factor 1 gene DOID:10763 hypertension severity ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:16431135|REF_RGD_ID:1598427
18342977 IGF1 insulin like growth factor 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:70506 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:endothelial cell: PMID:12714661|REF_RGD_ID:10045893
18342977 IGF1 insulin like growth factor 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:70506 D RGD:9068941 20211008 RGD protein:increased expression:aqueous humor of eyeball: PMID:24106111|REF_RGD_ID:10045867
18342977 IGF1 insulin like growth factor 1 gene DOID:10907 microcephaly ISO RGD:70506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868
18342977 IGF1 insulin like growth factor 1 gene DOID:11054 urinary bladder cancer ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19415693
18342977 IGF1 insulin like growth factor 1 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:70506 D RGD:9068941 20211008 RGD protein:increased expression:serum PMID:20013271|REF_RGD_ID:10755701
18342977 IGF1 insulin like growth factor 1 gene DOID:11476 osteoporosis ISO RGD:10765 D RGD:9068941 20211008 RGD PMID:10499542|REF_RGD_ID:10003127
18342977 IGF1 insulin like growth factor 1 gene DOID:11476 osteoporosis ISO RGD:2868 D RGD:9068941 20211008 RGD associated with Cholestasis PMID:19424739|REF_RGD_ID:10003131
18342977 IGF1 insulin like growth factor 1 gene DOID:11476 osteoporosis ISO RGD:2868 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Experimental PMID:1466160|REF_RGD_ID:10003132
18342977 IGF1 insulin like growth factor 1 gene DOID:11476 osteoporosis treatment ISO RGD:2868 D RGD:9068941 20211008 RGD associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast PMID:17647196|REF_RGD_ID:10003128
18342977 IGF1 insulin like growth factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:70506 D RGD:9068941 20211008 RGD protein:increased expression:serum: PMID:15653207|REF_RGD_ID:8549491
18342977 IGF1 insulin like growth factor 1 gene DOID:11830 myopia no_association ISO RGD:70506 D RGD:9068941 20211008 RGD DNA:SNPS: :rs10860860, rs2946834,rs6214(human) PMID:21976954|REF_RGD_ID:8548829
18342977 IGF1 insulin like growth factor 1 gene DOID:11830 myopia susceptibility ISO RGD:70506 D RGD:9068941 20211008 RGD DNA:SNP,haplotype: : rs12423791,rs5742629(human) PMID:22509095|REF_RGD_ID:8548838
18342977 IGF1 insulin like growth factor 1 gene DOID:11830 myopia susceptibility ISO RGD:70506 D RGD:9068941 20211008 RGD DNA:SNPS: :rs10860860, rs2946834,rs6214(human) PMID:20435602|REF_RGD_ID:8548828
18342977 IGF1 insulin like growth factor 1 gene DOID:11830 myopia susceptibility ISO RGD:70506 D RGD:9068941 20211008 RGD DNA:haplotype: :rs12423791,rs7956547,rs5742632(human) PMID:22332214|REF_RGD_ID:8548827
18342977 IGF1 insulin like growth factor 1 gene DOID:11984 hypertrophic cardiomyopathy severity ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:12135130|REF_RGD_ID:1598422
18342977 IGF1 insulin like growth factor 1 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:70506 D RGD:9068941 20211008 RGD protein:increased expression:nasal cavity mucosa, blood vessel: PMID:2772560|REF_RGD_ID:8548880
18342977 IGF1 insulin like growth factor 1 gene DOID:12361 Graves' disease ISO RGD:70506 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:thyroid gland: PMID:9857239|REF_RGD_ID:8548837
18342977 IGF1 insulin like growth factor 1 gene DOID:12689 acoustic neuroma susceptibility ISO RGD:70506 D RGD:9068941 20211008 RGD protein:increased expression:serum: PMID:21788435|REF_RGD_ID:8548833
18342977 IGF1 insulin like growth factor 1 gene DOID:12849 autistic disorder ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17547689
18342977 IGF1 insulin like growth factor 1 gene DOID:12858 Huntington's disease ISO RGD:10765 D RGD:9068941 20211008 RGD PMID:23384443|PMID:25140802|REF_RGD_ID:10045865|REF_RGD_ID:10045870
18342977 IGF1 insulin like growth factor 1 gene DOID:12858 Huntington's disease treatment ISO RGD:70506 D RGD:9068941 20211008 RGD human protein in a rat model PMID:15371744|REF_RGD_ID:12904970
18342977 IGF1 insulin like growth factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:11934830|REF_RGD_ID:1598419
18342977 IGF1 insulin like growth factor 1 gene DOID:13025 retinopathy of prematurity ISO RGD:2868 D RGD:9068941 20211008 RGD mRNA:decreased expression:retina PMID:16500767|REF_RGD_ID:8548852
18342977 IGF1 insulin like growth factor 1 gene DOID:13025 retinopathy of prematurity ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased expression:serum: PMID:20085549|REF_RGD_ID:8548825
18342977 IGF1 insulin like growth factor 1 gene DOID:13025 retinopathy of prematurity no_association ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:20214047|REF_RGD_ID:8548867
18342977 IGF1 insulin like growth factor 1 gene DOID:13580 cholestasis ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:18607346|REF_RGD_ID:10046052
18342977 IGF1 insulin like growth factor 1 gene DOID:13580 cholestasis ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:12826230
18342977 IGF1 insulin like growth factor 1 gene DOID:14026 folic acid deficiency anemia ISO RGD:2868 D RGD:9068941 20211008 RGD protein:decreased expression:serum, cranial bone (rat) PMID:16111879|REF_RGD_ID:12910463
18342977 IGF1 insulin like growth factor 1 gene DOID:14183 alcoholic neuropathy ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:23016131|REF_RGD_ID:10402569
18342977 IGF1 insulin like growth factor 1 gene DOID:1459 hypothyroidism ISO RGD:2868 D RGD:9068941 20211008 RGD protein:decreased expression:serum (rat) PMID:1380443|REF_RGD_ID:12910458
18342977 IGF1 insulin like growth factor 1 gene DOID:1485 cystic fibrosis ISO RGD:70506 D RGD:9068941 20211008 RGD protein:increased expression:respiratory tract epithelium (rat) PMID:22461702|REF_RGD_ID:12904899
18342977 IGF1 insulin like growth factor 1 gene DOID:1596 depressive disorder ISO RGD:70506 D RGD:9068941 20240229 RGD associated with alcohol dependence;protein:increased expression:plasma PMID:26792039|REF_RGD_ID:401976547
18342977 IGF1 insulin like growth factor 1 gene DOID:1612 breast cancer susceptibility ISO RGD:2868 D RGD:9068941 20211008 RGD protein:increased expression:serum (rat) PMID:17584969|REF_RGD_ID:2315650
18342977 IGF1 insulin like growth factor 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:70506 D RGD:9068941 20211008 RGD DNA:polymorphism (human) PMID:19064563|REF_RGD_ID:2306689
18342977 IGF1 insulin like growth factor 1 gene DOID:224 transient cerebral ischemia severity ISO RGD:2868 D RGD:9068941 20211008 RGD protein:decreased expression:serum (rat) PMID:25098324|REF_RGD_ID:12904924
18342977 IGF1 insulin like growth factor 1 gene DOID:2316 brain ischemia ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:16882007|REF_RGD_ID:1598411
18342977 IGF1 insulin like growth factor 1 gene DOID:2316 brain ischemia ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:19332057|REF_RGD_ID:2306694
18342977 IGF1 insulin like growth factor 1 gene DOID:2349 arteriosclerosis ISO RGD:70506 D RGD:9068941 20211008 RGD protein:increased expression:blood PMID:15625284|REF_RGD_ID:2313768
18342977 IGF1 insulin like growth factor 1 gene DOID:2449 acromegaly ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:1682667|PMID:18381583|PMID:18388193|PMID:9186818
18342977 IGF1 insulin like growth factor 1 gene DOID:2748 glycogen storage disease III ISO RGD:70506 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Glycogen debrancher deficiency PMID:12955720|PMID:20301788
18342977 IGF1 insulin like growth factor 1 gene DOID:2843 long QT syndrome ISO RGD:70506 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555
18342977 IGF1 insulin like growth factor 1 gene DOID:289 endometriosis ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21063030
18342977 IGF1 insulin like growth factor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:70506 D RGD:9068941 20211008 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168
18342977 IGF1 insulin like growth factor 1 gene DOID:2962 Cockayne syndrome ISO RGD:10765 D RGD:9068941 20211008 RGD PMID:17326724|REF_RGD_ID:10003139
18342977 IGF1 insulin like growth factor 1 gene DOID:2987 familial Mediterranean fever disease_progression ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:21428190|REF_RGD_ID:5508806
18342977 IGF1 insulin like growth factor 1 gene DOID:3021 acute kidney failure ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:7540432
18342977 IGF1 insulin like growth factor 1 gene DOID:3070 high grade glioma severity ISO RGD:70506 D RGD:9068941 20211008 RGD protein:increased expression:serum: PMID:21788435|REF_RGD_ID:8548833
18342977 IGF1 insulin like growth factor 1 gene DOID:3213 demyelinating disease ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:9452187
18342977 IGF1 insulin like growth factor 1 gene DOID:3407 carotid artery disease ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:16181175|REF_RGD_ID:1598446
18342977 IGF1 insulin like growth factor 1 gene DOID:3490 Noonan syndrome ISO RGD:10765 D RGD:9068941 20211008 RGD protein:decreased expression:serum (mouse) PMID:22371576|REF_RGD_ID:11352540
18342977 IGF1 insulin like growth factor 1 gene DOID:3490 Noonan syndrome treatment ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:16263833|REF_RGD_ID:11063837
18342977 IGF1 insulin like growth factor 1 gene DOID:3491 Turner syndrome ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased activity:serum: PMID:17067837|REF_RGD_ID:12743588
18342977 IGF1 insulin like growth factor 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25257527
18342977 IGF1 insulin like growth factor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:10765 D RGD:9068941 20211008 RGD PMID:20098680|REF_RGD_ID:2317639
18342977 IGF1 insulin like growth factor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15286697
18342977 IGF1 insulin like growth factor 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2868 D RGD:9068941 20211008 RGD mRNA:decreased expression:heart (rat) PMID:11409163|REF_RGD_ID:12904929
18342977 IGF1 insulin like growth factor 1 gene DOID:3911 progeria treatment ISO RGD:10765 D RGD:9068941 20211008 RGD PMID:20805469|REF_RGD_ID:10003141
18342977 IGF1 insulin like growth factor 1 gene DOID:4248 coronary stenosis ISO RGD:2868 D RGD:9068941 20211008 RGD mRNA:increased expression:myocyte: PMID:8102103|REF_RGD_ID:10046053
18342977 IGF1 insulin like growth factor 1 gene DOID:480 movement disease ISO RGD:70506 D RGD:9068941 20240606 CTD CTD Direct Evidence: therapeutic PMID:33035625
18342977 IGF1 insulin like growth factor 1 gene DOID:5154 borna disease ISO RGD:2868 D RGD:9068941 20240222 RGD mRNA:increased expression:hippocampus PMID:11175319|REF_RGD_ID:2325644
18342977 IGF1 insulin like growth factor 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:30594912
18342977 IGF1 insulin like growth factor 1 gene DOID:557 kidney disease ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:8825380
18342977 IGF1 insulin like growth factor 1 gene DOID:574 peripheral nervous system disease ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:8866126|PMID:9452187
18342977 IGF1 insulin like growth factor 1 gene DOID:5844 myocardial infarction ISO RGD:2868 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:myocardium PMID:19295919|REF_RGD_ID:2306696
18342977 IGF1 insulin like growth factor 1 gene DOID:5844 myocardial infarction severity ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:16635594|REF_RGD_ID:1598421
18342977 IGF1 insulin like growth factor 1 gene DOID:6000 congestive heart failure ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:12835956|REF_RGD_ID:1598415
18342977 IGF1 insulin like growth factor 1 gene DOID:6039 uveal melanoma disease_progression ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:23197685|REF_RGD_ID:8548834
18342977 IGF1 insulin like growth factor 1 gene DOID:630 genetic disease ISO RGD:70506 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18342977 IGF1 insulin like growth factor 1 gene DOID:6543 acne ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:21054577|REF_RGD_ID:8549489
18342977 IGF1 insulin like growth factor 1 gene DOID:6543 acne ISO RGD:70506 D RGD:9068941 20211008 RGD protein:increased expression:serum: PMID:7608381|REF_RGD_ID:8549457
18342977 IGF1 insulin like growth factor 1 gene DOID:6543 acne no_association ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:9347796|REF_RGD_ID:8549499
18342977 IGF1 insulin like growth factor 1 gene DOID:657 adenoma ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:1611713
18342977 IGF1 insulin like growth factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28284560
18342977 IGF1 insulin like growth factor 1 gene DOID:767 muscular atrophy ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:18467435
18342977 IGF1 insulin like growth factor 1 gene DOID:783 end stage renal disease ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:10198369
18342977 IGF1 insulin like growth factor 1 gene DOID:8398 osteoarthritis ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased expression:blood: PMID:2290165|REF_RGD_ID:10045857
18342977 IGF1 insulin like growth factor 1 gene DOID:850 lung disease ISO RGD:70506 D RGD:9068941 20231102 RGD mRNA:increased expression:lung (human) PMID:37731513|REF_RGD_ID:401851918
18342977 IGF1 insulin like growth factor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:2868 D RGD:9068941 20211008 RGD protein:increased expression:prostate gland PMID:19171036|REF_RGD_ID:2306713
18342977 IGF1 insulin like growth factor 1 gene DOID:8725 vascular dementia ISO RGD:2868 D RGD:9068941 20211008 RGD mRNA,protein:decreased expression:hippocampus: PMID:22342912|REF_RGD_ID:10045864
18342977 IGF1 insulin like growth factor 1 gene DOID:8725 vascular dementia severity ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:16181175|REF_RGD_ID:1598446
18342977 IGF1 insulin like growth factor 1 gene DOID:8778 Crohn's disease ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19751734
18342977 IGF1 insulin like growth factor 1 gene DOID:8893 psoriasis ISO RGD:70506 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:skin: PMID:21241374|REF_RGD_ID:8549492
18342977 IGF1 insulin like growth factor 1 gene DOID:8927 learning disability ISO RGD:70506 D RGD:9068941 20240808 CTD CTD Direct Evidence: therapeutic PMID:34632857
18342977 IGF1 insulin like growth factor 1 gene DOID:8947 diabetic retinopathy ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased expression:serum PMID:17194636|REF_RGD_ID:2313764
18342977 IGF1 insulin like growth factor 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:16873705|REF_RGD_ID:1598424
18342977 IGF1 insulin like growth factor 1 gene DOID:9000121 Malocclusion disease_progression ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:22758598|REF_RGD_ID:10045831
18342977 IGF1 insulin like growth factor 1 gene DOID:9000146 Plaque, Atherosclerotic treatment ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:17916769|REF_RGD_ID:8548877
18342977 IGF1 insulin like growth factor 1 gene DOID:9000528 Coronary Disease ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:15521962|REF_RGD_ID:1626121
18342977 IGF1 insulin like growth factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18398872
18342977 IGF1 insulin like growth factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70506 D RGD:9068941 20211008 RGD associated with Pancreatic Neoplasms PMID:19375852|REF_RGD_ID:2317643
18342977 IGF1 insulin like growth factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70506 D RGD:9068941 20211008 RGD associated with Uveal Melanoma;protein:increased expression:serum: PMID:23197685|REF_RGD_ID:8548834
18342977 IGF1 insulin like growth factor 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:70506 D RGD:9068941 20211008 RGD human protein in a rat model PMID:9344566|REF_RGD_ID:12904928
18342977 IGF1 insulin like growth factor 1 gene DOID:9001472 Nasal Polyps ISO RGD:70506 D RGD:9068941 20211008 RGD mRNA:increased expression:nasal cavity mucosa: PMID:18202785|REF_RGD_ID:8548875
18342977 IGF1 insulin like growth factor 1 gene DOID:9001542 Albuminuria susceptibility ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:16645019|REF_RGD_ID:1598420
18342977 IGF1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2868 D RGD:9068941 20211008 RGD protein:increased expression:liver: PMID:12800242|REF_RGD_ID:10045984
18342977 IGF1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:15591519|PMID:15745444
18342977 IGF1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:16434425|REF_RGD_ID:2317647
18342977 IGF1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:20198635|REF_RGD_ID:12904923
18342977 IGF1 insulin like growth factor 1 gene DOID:9001600 Wounds and Injuries ISO RGD:10765 D RGD:9068941 20211008 RGD associated with Rhinosinusitis; mRNA:increased expression:nose: PMID:20713758|REF_RGD_ID:8548883
18342977 IGF1 insulin like growth factor 1 gene DOID:9001600 Wounds and Injuries ISO RGD:2868 D RGD:9068941 20211008 RGD protein:increased expression:skin: PMID:21296499|REF_RGD_ID:8549452
18342977 IGF1 insulin like growth factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2868 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:serum (rat) PMID:10444029|REF_RGD_ID:12904967
18342977 IGF1 insulin like growth factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased expression:serum PMID:17194636|REF_RGD_ID:2313764
18342977 IGF1 insulin like growth factor 1 gene DOID:9002209 Skull Fractures ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased expression:serum: PMID:12002507|REF_RGD_ID:8548865
18342977 IGF1 insulin like growth factor 1 gene DOID:9002211 Hyperalgesia ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:9452187
18342977 IGF1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2868 D RGD:9068941 20211008 RGD mRNA:decreased expression:liver PMID:19088829|REF_RGD_ID:2306715
18342977 IGF1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation onset ISO RGD:2868 D RGD:9068941 20211008 RGD protein:decreased expression:placenta labyrinth (rat) PMID:24239160|REF_RGD_ID:12904720
18342977 IGF1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:15506645|REF_RGD_ID:1600258
18342977 IGF1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:70506 D RGD:9068941 20211008 RGD human protein in a rat model PMID:9284279|REF_RGD_ID:12910460
18342977 IGF1 insulin like growth factor 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:1611713
18342977 IGF1 insulin like growth factor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:11014614
18342977 IGF1 insulin like growth factor 1 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:2868 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Experimental PMID:21567076|REF_RGD_ID:6907380
18342977 IGF1 insulin like growth factor 1 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:8619365|REF_RGD_ID:10402812
18342977 IGF1 insulin like growth factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:2868 D RGD:9068941 20211008 RGD protein:increased expression:prostate gland PMID:19171036|REF_RGD_ID:2306713
18342977 IGF1 insulin like growth factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16465378|PMID:19208208|PMID:24586243
18342977 IGF1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:10765 D RGD:9068941 20211008 RGD PMID:9497937|REF_RGD_ID:10046057
18342977 IGF1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:70506 D RGD:9068941 20211008 RGD mRNA:increased expression:meniscus: PMID:20633672|REF_RGD_ID:10045868
18342977 IGF1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:8461919|REF_RGD_ID:10045862
18342977 IGF1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:2868 D RGD:9068941 20211008 RGD protein:decreased expression:plasma (rat) PMID:17133593|REF_RGD_ID:10003130
18342977 IGF1 insulin like growth factor 1 gene DOID:9002427 Fetal Macrosomia ISO RGD:70506 D RGD:9068941 20211008 RGD protein:increased expression:serum: PMID:17113804|REF_RGD_ID:12743591
18342977 IGF1 insulin like growth factor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2868 D RGD:9068941 20211008 RGD protein:decreased expression:plasma PMID:19246225|REF_RGD_ID:2306697
18342977 IGF1 insulin like growth factor 1 gene DOID:9002514 Neointima ISO RGD:70506 D RGD:9068941 20211008 RGD associated with Hypertension PMID:12791939|REF_RGD_ID:1580477
18342977 IGF1 insulin like growth factor 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16002989
18342977 IGF1 insulin like growth factor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:70506 D RGD:9068941 20211008 RGD human protein in a rat model PMID:7541143|REF_RGD_ID:6483353
18342977 IGF1 insulin like growth factor 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:2868 D RGD:9068941 20211008 RGD protein:decreased expression:serum (rat) PMID:18344903|REF_RGD_ID:12910457
18342977 IGF1 insulin like growth factor 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:16585854|REF_RGD_ID:8549455
18342977 IGF1 insulin like growth factor 1 gene DOID:9002916 Hyperphagia ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:17567960|REF_RGD_ID:10046043
18342977 IGF1 insulin like growth factor 1 gene DOID:9002955 Nerve Degeneration ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:10203697|PMID:9452187
18342977 IGF1 insulin like growth factor 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18539642
18342977 IGF1 insulin like growth factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:19766709|REF_RGD_ID:10046049
18342977 IGF1 insulin like growth factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:23694759|REF_RGD_ID:12904932
18342977 IGF1 insulin like growth factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:11672597|REF_RGD_ID:8549456
18342977 IGF1 insulin like growth factor 1 gene DOID:9003817 Sudden Hearing Loss treatment ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:21108784|REF_RGD_ID:8548824
18342977 IGF1 insulin like growth factor 1 gene DOID:9003921 Zinc Deficiency ISO RGD:2868 D RGD:9068941 20211008 RGD mRNA:decreased expression:liver (rat) PMID:20404036|REF_RGD_ID:12904966
18342977 IGF1 insulin like growth factor 1 gene DOID:9003936 Cardiomegaly ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10547078
18342977 IGF1 insulin like growth factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:10765 D RGD:9068941 20211008 RGD PMID:16306169|REF_RGD_ID:1598442
18342977 IGF1 insulin like growth factor 1 gene DOID:9004091 Osteophytes ISO RGD:2868 D RGD:9068941 20211008 RGD associated with Acromegaly PMID:10499542|REF_RGD_ID:10003127
18342977 IGF1 insulin like growth factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:70506 D RGD:9068941 20240808 CTD CTD Direct Evidence: therapeutic PMID:34632857
18342977 IGF1 insulin like growth factor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:24353828
18342977 IGF1 insulin like growth factor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:9135074|REF_RGD_ID:8549453
18342977 IGF1 insulin like growth factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18398872
18342977 IGF1 insulin like growth factor 1 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased expression:serum: PMID:11063288|REF_RGD_ID:10045861
18342977 IGF1 insulin like growth factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10765 D RGD:9068941 20211008 RGD PMID:23342276|REF_RGD_ID:8549490
18342977 IGF1 insulin like growth factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15217511|PMID:15528971|PMID:17584969
18342977 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10765 D RGD:9068941 20211008 RGD protein:decreased expression:oviduct PMID:18676006|REF_RGD_ID:2311502
18342977 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2868 D RGD:9068941 20211008 RGD mRNA,protein:decreased expression:corpus cavernosum: PMID:22133301|REF_RGD_ID:10046054
18342977 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2868 D RGD:9068941 20211008 RGD protein:decreased expression:cerebellum, serum PMID:19382144|REF_RGD_ID:2306671
18342977 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2868 D RGD:9068941 20211008 RGD protein:decreased expression:heart PMID:20555424|REF_RGD_ID:4142788
18342977 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2868 D RGD:9068941 20241123 RGD mRNA:altered expression:kidney PMID:7536658|REF_RGD_ID:152176653
18342977 IGF1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:24632065
18342977 IGF1 insulin like growth factor 1 gene DOID:9005768 Thinness ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased expression:serum: PMID:10578024|REF_RGD_ID:10045866
18342977 IGF1 insulin like growth factor 1 gene DOID:9005873 Tongue Neoplasms ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased expression:blood: PMID:8493451|REF_RGD_ID:8548876
18342977 IGF1 insulin like growth factor 1 gene DOID:9005930 Endotoxemia ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:12217886|REF_RGD_ID:625688
18342977 IGF1 insulin like growth factor 1 gene DOID:9005930 Endotoxemia ISO RGD:2868 D RGD:9068941 20211008 RGD mRNA, protein:decreased expression:liver, serum PMID:18492809|REF_RGD_ID:10402757
18342977 IGF1 insulin like growth factor 1 gene DOID:9005941 Rhinosinusitis ISO RGD:10765 D RGD:9068941 20211008 RGD mRNA:increased expression:nose: PMID:20713758|REF_RGD_ID:8548883
18342977 IGF1 insulin like growth factor 1 gene DOID:9006008 Closed Head Injuries ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased expression:serum: PMID:12002507|REF_RGD_ID:8548865
18342977 IGF1 insulin like growth factor 1 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:21037532|REF_RGD_ID:8549460
18342977 IGF1 insulin like growth factor 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:10090325|REF_RGD_ID:12904918
18342977 IGF1 insulin like growth factor 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:10765 D RGD:9068941 20211008 RGD protein:increased expression:serum,carotid artery: PMID:12490968|REF_RGD_ID:10046051
18342977 IGF1 insulin like growth factor 1 gene DOID:9006257 Growth Disorders ISO RGD:70506 D RGD:9068941 20211008 RGD IGF1 deficiency, OMIM:608747;DNA:deletion PMID:8857020|REF_RGD_ID:1624297
18342977 IGF1 insulin like growth factor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:20064577
18342977 IGF1 insulin like growth factor 1 gene DOID:9006877 Insulin-Like Growth Factor I Deficiency ISO RGD:70506 D RGD:7240710 20200205 OMIM
18342977 IGF1 insulin like growth factor 1 gene DOID:9006877 Insulin-Like Growth Factor I Deficiency ISO RGD:70506 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation | ClinVar Annotator: match by term: IGF1-related condition | ClinVar Annotator: match by term: Insulin-like growth factor I deficiency PMID:14684690|PMID:15769976|PMID:18317720|PMID:19240240|PMID:21915365|PMID:22832530|PMID:24033266|PMID:24389050|PMID:24664114|PMID:25741868|PMID:26132555|PMID:27854218|PMID:28492532|PMID:30214071|PMID:8857020
18342977 IGF1 insulin like growth factor 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:11375343
18342977 IGF1 insulin like growth factor 1 gene DOID:9007096 Stroke ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:15567334|REF_RGD_ID:1598413
18342977 IGF1 insulin like growth factor 1 gene DOID:9007096 Stroke severity ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:16882751|REF_RGD_ID:1598423
18342977 IGF1 insulin like growth factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:16698918|REF_RGD_ID:1598426
18342977 IGF1 insulin like growth factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16214533
18342977 IGF1 insulin like growth factor 1 gene DOID:9007102 Myocardial Ischemia severity ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:16793032|REF_RGD_ID:1598425
18342977 IGF1 insulin like growth factor 1 gene DOID:9007181 Osteoporotic Fractures ISO RGD:70506 D RGD:9068941 20211008 RGD DNA:repeat:promoter PMID:16939403|REF_RGD_ID:10045848
18342977 IGF1 insulin like growth factor 1 gene DOID:9007181 Osteoporotic Fractures susceptibility ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased expression:serum PMID:10752709|REF_RGD_ID:10045863
18342977 IGF1 insulin like growth factor 1 gene DOID:9007181 Osteoporotic Fractures treatment ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:11834155|REF_RGD_ID:10003137
18342977 IGF1 insulin like growth factor 1 gene DOID:9007284 Precocious Puberty ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21402727
18342977 IGF1 insulin like growth factor 1 gene DOID:9007346 Cachexia ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:30782979
18342977 IGF1 insulin like growth factor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23639586|PMID:25226513
18342977 IGF1 insulin like growth factor 1 gene DOID:9007480 Hyperoxia severity ISO RGD:70506 D RGD:9068941 20211008 RGD human protein in a rat model PMID:17697625|REF_RGD_ID:12904925
18342977 IGF1 insulin like growth factor 1 gene DOID:9007661 Dwarfism ISO RGD:2868 D RGD:9068941 20211008 RGD protein:decreased expression:plasma (rat) PMID:20102388|REF_RGD_ID:12904931
18342977 IGF1 insulin like growth factor 1 gene DOID:9007661 Dwarfism ISO RGD:70506 D RGD:9068941 20211008 RGD DNA:nonsense mutation,haploinsufficiency :cds: PMID:20668042|REF_RGD_ID:8548823
18342977 IGF1 insulin like growth factor 1 gene DOID:9007730 Burns ISO RGD:2868 D RGD:9068941 20211008 RGD mRNA:altered expression:multiple PMID:10827012|REF_RGD_ID:12910869
18342977 IGF1 insulin like growth factor 1 gene DOID:9008023 Memory Disorders ISO RGD:70506 D RGD:9068941 20240808 CTD CTD Direct Evidence: therapeutic PMID:34632857
18342977 IGF1 insulin like growth factor 1 gene DOID:9008212 Diabetic Foot ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased expression:fibroblast of dermis,stratum basale of epidermis: PMID:10727985|REF_RGD_ID:8549356
18342977 IGF1 insulin like growth factor 1 gene DOID:9008681 Deafness ISO RGD:10765 D RGD:9068941 20211008 RGD PMID:20661454|REF_RGD_ID:8549497
18342977 IGF1 insulin like growth factor 1 gene DOID:9008824 Sarcopenia ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:12919235|REF_RGD_ID:10045859
18342977 IGF1 insulin like growth factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17520698|PMID:18398872
18342977 IGF1 insulin like growth factor 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10370016
18342977 IGF1 insulin like growth factor 1 gene DOID:9351 diabetes mellitus ISO RGD:70506 D RGD:9068941 20211008 RGD mRNA,protein:decreased expression:corpus cavernosum: PMID:22133301|REF_RGD_ID:10046054
18342977 IGF1 insulin like growth factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2868 D RGD:9068941 20211008 RGD PMID:18986336|REF_RGD_ID:2306690
18342977 IGF1 insulin like growth factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:16005252|REF_RGD_ID:2313767
18342977 IGF1 insulin like growth factor 1 gene DOID:9521 Laron syndrome ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased expression:serum: PMID:21054577|REF_RGD_ID:8549489
18342977 IGF1 insulin like growth factor 1 gene DOID:9743 diabetic neuropathy ISO RGD:2868 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Experimental PMID:19264110|REF_RGD_ID:2306687
18342977 IGF1 insulin like growth factor 1 gene DOID:9743 diabetic neuropathy ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased expression:serum PMID:17194636|REF_RGD_ID:2313764
18342977 IGF1 insulin like growth factor 1 gene DOID:9743 diabetic neuropathy treatment ISO RGD:10765 D RGD:9068941 20211008 RGD PMID:18545223|REF_RGD_ID:8549454
18342977 IGF1 insulin like growth factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:70506 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:24632065
18342977 IGF1 insulin like growth factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:15356074|PMID:19156625|REF_RGD_ID:2306688|REF_RGD_ID:2313769
18342977 IGF1 insulin like growth factor 1 gene DOID:9744 type 1 diabetes mellitus severity ISO RGD:70506 D RGD:9068941 20211008 RGD PMID:16887362|REF_RGD_ID:2313765
18342977 IGF1 insulin like growth factor 1 gene DOID:987 alopecia ISO RGD:70506 D RGD:9068941 20211008 RGD protein:decreased secretion:dermal papilla: PMID:24499417|REF_RGD_ID:8549500
18342977 IGF1 insulin like growth factor 1 gene DOID:987 alopecia ISO RGD:70506 D RGD:9068941 20211008 RGD protein:increased expression:plasma: PMID:10827403|REF_RGD_ID:8549462
18342996 FHL1 four and a half LIM domains 1 gene DOID:0051016 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532
18342996 FHL1 four and a half LIM domains 1 gene DOID:0060253 scapuloperoneal myopathy ISO RGD:10588 D RGD:9068941 20220825 MouseDO OMIM:181430 | OMIM:300695
18342996 FHL1 four and a half LIM domains 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
18342996 FHL1 four and a half LIM domains 1 gene DOID:0060825 Christianson syndrome ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532
18342996 FHL1 four and a half LIM domains 1 gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:1342641 D RGD:7240710 20200205 OMIM
18342996 FHL1 four and a half LIM domains 1 gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:1342641 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 6 | ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy PMID:16199547|PMID:17576681|PMID:18179888|PMID:18179901|PMID:18274675|PMID:19171836|PMID:19181672|PMID:19377476|PMID:19687455|PMID:19716112|PMID:20186852|PMID:20571991|PMID:20633900|PMID:21520333|PMID:21629301|PMID:21683594|PMID:22094483|PMID:22523091|PMID:22923418|PMID:23169582|PMID:23500067|PMID:23965743|PMID:24114807|PMID:24634512|PMID:25191266|PMID:25246303|PMID:25274776|PMID:25741868|PMID:25965631|PMID:26265627|PMID:26467025|PMID:26627873|PMID:2663542|PMID:26857240|PMID:27409453|PMID:27443559|PMID:27532257|PMID:27841901|PMID:28444561|PMID:28492532|PMID:28611399|PMID:28694073|PMID:29434030|PMID:29661763|PMID:29926425|PMID:31204143|PMID:31273321|PMID:31568572|PMID:31803991|PMID:31840275|PMID:32001145|PMID:32102154|PMID:32587768|PMID:32815737|PMID:33673806|PMID:33963534|PMID:36291626|PMID:7722535|PMID:9536098
18342996 FHL1 four and a half LIM domains 1 gene DOID:0080090 reducing body myopathy 1A ISO RGD:1342641 D RGD:7240710 20200205 OMIM
18342996 FHL1 four and a half LIM domains 1 gene DOID:0080090 reducing body myopathy 1A ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, early-onset, severe PMID:18274675|PMID:19171836|PMID:19181672|PMID:19716112|PMID:20633900|PMID:24634512|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7722535
18342996 FHL1 four and a half LIM domains 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1342641 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25246303|PMID:25965631|PMID:26857240|PMID:28492532|PMID:33673806|PMID:36291626
18342996 FHL1 four and a half LIM domains 1 gene DOID:0080687 reducing body myopathy 1B ISO RGD:1342641 D RGD:7240710 20200205 OMIM
18342996 FHL1 four and a half LIM domains 1 gene DOID:0080687 reducing body myopathy 1B ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, childhood-onset PMID:16919903|PMID:18274675|PMID:18952429|PMID:19171836|PMID:20571991|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31273321|PMID:31803991|PMID:32001145
18342996 FHL1 four and a half LIM domains 1 gene DOID:0080687 reducing body myopathy 1B ISO RGD:1342641 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, childhood-onset PMID:16919903|PMID:18274675|PMID:18952429|PMID:19171836|PMID:19716112|PMID:20571991|PMID:21520333|PMID:23965743|PMID:24634512|PMID:25741868|PMID:26467025|PMID:26627873|PMID:28492532|PMID:31273321|PMID:31803991|PMID:32001145
18342996 FHL1 four and a half LIM domains 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1342641 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25246303|PMID:25965631|PMID:26857240|PMID:28492532|PMID:33673806|PMID:36291626
18342996 FHL1 four and a half LIM domains 1 gene DOID:0111823 autosomal hemophilia A ISO RGD:1342641 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
18342996 FHL1 four and a half LIM domains 1 gene DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome ISO RGD:1342641 D RGD:7240710 20200401 OMIM
18342996 FHL1 four and a half LIM domains 1 gene DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uruguay Faciocardiomusculoskeletal syndrome PMID:11102932|PMID:19716112|PMID:24634512|PMID:25741868|PMID:26467025|PMID:26933038|PMID:28492532
18342996 FHL1 four and a half LIM domains 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342641 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:25741868|PMID:25741874|PMID:39481677
18342996 FHL1 four and a half LIM domains 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
18342996 FHL1 four and a half LIM domains 1 gene DOID:12134 factor VIII deficiency ISO RGD:1342641 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
18342996 FHL1 four and a half LIM domains 1 gene DOID:12849 autistic disorder ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18342996 FHL1 four and a half LIM domains 1 gene DOID:14717 centronuclear myopathy ISO RGD:1342641 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:18274675|PMID:25741868
18342996 FHL1 four and a half LIM domains 1 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532
18342996 FHL1 four and a half LIM domains 1 gene DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy ISO RGD:1342641 D RGD:7240710 20200205 OMIM
18342996 FHL1 four and a half LIM domains 1 gene DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy PMID:18179888|PMID:18179901|PMID:19181672|PMID:21629301|PMID:25274776|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532|PMID:30260394
18342996 FHL1 four and a half LIM domains 1 gene DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy PMID:18179888|PMID:18179901|PMID:19181672|PMID:19716112|PMID:21629301|PMID:24634512|PMID:25274776|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532|PMID:30260394
18342996 FHL1 four and a half LIM domains 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342641 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
18342996 FHL1 four and a half LIM domains 1 gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:1342641 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: RETICULOSIS, FAMILIAL HISTIOCYTIC PMID:18179888|PMID:19377476|PMID:19687455|PMID:19716112|PMID:22523091|PMID:24114807|PMID:25741868|PMID:26467025|PMID:27443559|PMID:27841901|PMID:28492532|PMID:28611399|PMID:29926425
18342996 FHL1 four and a half LIM domains 1 gene DOID:9005532 Muscle Weakness ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868
18342996 FHL1 four and a half LIM domains 1 gene DOID:9775 diastolic heart failure ISO RGD:1342641 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29556499
18343034 CLDN15 claudin 15 gene DOID:1790 malignant mesothelioma ISO RGD:1321720 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28377727
18343034 CLDN15 claudin 15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
18343047 BPIFC BPI fold containing family C gene DOID:0070563 glucose-galactose malabsorption ISO RGD:1323273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532
18343047 BPIFC BPI fold containing family C gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1323273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532
18343082 MDM2 MDM2 proto-oncogene gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1313299 D RGD:9068941 20211008 RGD protein:increased expression:biliary epithelium (human) PMID:16505435|REF_RGD_ID:2317415
18343082 MDM2 MDM2 proto-oncogene gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:1313299 D RGD:9068941 20211008 RGD DNA:SNP:cds:309T>G(rs2279744)(human) PMID:22668018|REF_RGD_ID:11073731
18343082 MDM2 MDM2 proto-oncogene gene DOID:0060071 pre-malignant neoplasm ISO RGD:1313299 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:14555611
18343082 MDM2 MDM2 proto-oncogene gene DOID:10923 sickle cell anemia ISO RGD:1313300 D RGD:9068941 20211008 RGD PMID:21085184|REF_RGD_ID:10412315
18343082 MDM2 MDM2 proto-oncogene gene DOID:11054 urinary bladder cancer severity ISO RGD:1313299 D RGD:9068941 20211008 RGD mRNA:increased expression:bladder PMID:27798881|REF_RGD_ID:13602098
18343082 MDM2 MDM2 proto-oncogene gene DOID:1115 sarcoma ISO RGD:1313299 D RGD:9068941 20211008 RGD DNA:amplification:cds (human) PMID:1614537|REF_RGD_ID:2317412
18343082 MDM2 MDM2 proto-oncogene gene DOID:12336 male infertility ISO RGD:1313299 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22773013
18343082 MDM2 MDM2 proto-oncogene gene DOID:13677 SAPHO syndrome ISO RGD:1313299 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19779722
18343082 MDM2 MDM2 proto-oncogene gene DOID:14566 disease of cellular proliferation ISO RGD:1313299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to PMID:15550242|PMID:16258005|PMID:17003841|PMID:17360557|PMID:17576681|PMID:19521721|PMID:28492532|PMID:9536098
18343082 MDM2 MDM2 proto-oncogene gene DOID:14566 disease of cellular proliferation ISO RGD:1313299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to | ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:15550242|PMID:16199547|PMID:16258005|PMID:17003841|PMID:17360557|PMID:17576681|PMID:19521721|PMID:23653682|PMID:28492532|PMID:9536098
18343082 MDM2 MDM2 proto-oncogene gene DOID:14566 disease of cellular proliferation ISO RGD:1313299 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to PMID:15550242|PMID:16199547|PMID:16258005|PMID:17003841|PMID:17360557|PMID:17576681|PMID:19521721|PMID:23653682|PMID:25741868|PMID:28492532|PMID:28846075|PMID:9536098
18343082 MDM2 MDM2 proto-oncogene gene DOID:1612 breast cancer ISO RGD:1305332 D RGD:9068941 20211008 RGD protein:increased expression:breast tumor (rat) PMID:15844214|REF_RGD_ID:2293626
18343082 MDM2 MDM2 proto-oncogene gene DOID:1697 ichthyosis ISO RGD:1313299 D RGD:9068941 20211008 RGD PMID:24005053|REF_RGD_ID:10412066
18343082 MDM2 MDM2 proto-oncogene gene DOID:1697 ichthyosis treatment ISO RGD:1305332 D RGD:9068941 20211008 RGD PMID:24005053|REF_RGD_ID:10412066
18343082 MDM2 MDM2 proto-oncogene gene DOID:1909 melanoma ISO RGD:1313299 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17210701
18343082 MDM2 MDM2 proto-oncogene gene DOID:2055 post-traumatic stress disorder ISO RGD:1305332 D RGD:9068941 20211008 RGD PMID:23174211|REF_RGD_ID:10412309
18343082 MDM2 MDM2 proto-oncogene gene DOID:224 transient cerebral ischemia treatment ISO RGD:1305332 D RGD:9068941 20211008 RGD PMID:24334056|REF_RGD_ID:10412310
18343082 MDM2 MDM2 proto-oncogene gene DOID:3068 glioblastoma ISO RGD:1313299 D RGD:9068941 20211008 RGD DNA:amplication PMID:23796897|REF_RGD_ID:13702089
18343082 MDM2 MDM2 proto-oncogene gene DOID:3587 pancreatic ductal carcinoma onset ISO RGD:1313299 D RGD:9068941 20211008 RGD DNA:snp:promoter, intron:IVS1+309T>G (human) PMID:19752772|REF_RGD_ID:2317414
18343082 MDM2 MDM2 proto-oncogene gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:1313299 D RGD:9068941 20211008 RGD protein:increased expression:pancreas (human) PMID:15810085|REF_RGD_ID:2317416
18343082 MDM2 MDM2 proto-oncogene gene DOID:3669 intermittent claudication treatment ISO RGD:1305332 D RGD:9068941 20211008 RGD PMID:23658678|REF_RGD_ID:9586024
18343082 MDM2 MDM2 proto-oncogene gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313299 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19941079|PMID:21268124
18343082 MDM2 MDM2 proto-oncogene gene DOID:409 liver disease onset ISO RGD:1305332 D RGD:9068941 20211008 RGD protein:increased expression:Enzyme altered focus (rat) PMID:14555611|REF_RGD_ID:2317409
18343082 MDM2 MDM2 proto-oncogene gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1313299 D RGD:9068941 20211008 RGD protein:increased expression:intrahepatic bile duct (human) PMID:15619210|REF_RGD_ID:2317417
18343082 MDM2 MDM2 proto-oncogene gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313299 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12878215
18343082 MDM2 MDM2 proto-oncogene gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1313299 D RGD:9068941 20211008 RGD DNA:transversion:promoter:g.-309T>G (human) PMID:20019189|REF_RGD_ID:2317357
18343082 MDM2 MDM2 proto-oncogene gene DOID:8552 chronic myeloid leukemia onset ISO RGD:1313299 D RGD:9068941 20211008 RGD DNA:SNP:promoter:rs2279744(human) PMID:23818300|REF_RGD_ID:13703044
18343082 MDM2 MDM2 proto-oncogene gene DOID:9000039 Spinal Cord Injuries ISO RGD:1305332 D RGD:9068941 20211008 RGD protein:increased expression:spinal cord PMID:23595775|REF_RGD_ID:10412063
18343082 MDM2 MDM2 proto-oncogene gene DOID:9000217 Stomach Neoplasms ISO RGD:1313299 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:31945315
18343082 MDM2 MDM2 proto-oncogene gene DOID:9000998 Brain Injuries ISO RGD:1305332 D RGD:9068941 20211008 RGD protein:increased expression:brain cortex (rat) PMID:15165363|REF_RGD_ID:2317397
18343082 MDM2 MDM2 proto-oncogene gene DOID:9002231 Fetal Growth Retardation ISO RGD:1305332 D RGD:9068941 20211008 RGD mRNA:decreased expression:cerebrum (rat) PMID:15563574|REF_RGD_ID:2317395
18343082 MDM2 MDM2 proto-oncogene gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313299 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20875869
18343082 MDM2 MDM2 proto-oncogene gene DOID:9002395 Hypothermia ISO RGD:1305332 D RGD:9068941 20211008 RGD associated with Reperfusion Injury; protein:increased expression:hippocampus (rat) PMID:15777295|REF_RGD_ID:2317393
18343082 MDM2 MDM2 proto-oncogene gene DOID:9002644 Premature Aging ISO RGD:1313300 D RGD:9068941 20211008 RGD PMID:23766372|REF_RGD_ID:10412052
18343082 MDM2 MDM2 proto-oncogene gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:1313299 D RGD:9068941 20211008 RGD associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human) PMID:21706156|REF_RGD_ID:11073725
18343082 MDM2 MDM2 proto-oncogene gene DOID:9003292 Intracranial Subdural Hematoma treatment ISO RGD:1305332 D RGD:9068941 20230128 RGD PMID:34334113|REF_RGD_ID:155882538
18343082 MDM2 MDM2 proto-oncogene gene DOID:9004277 Lessel-Kubisch Syndrome ISO RGD:1313299 D RGD:8554872 20250114 ClinVar ClinVar Annotator: match by term: Lessel-kubisch syndrome | ClinVar Annotator: match by term: MDM2-related condition PMID:25741868|PMID:28492532|PMID:28846075
18343082 MDM2 MDM2 proto-oncogene gene DOID:9004277 Lessel-Kubisch Syndrome susceptibility ISO RGD:1313299 D RGD:7240710 20250115 OMIM
18343082 MDM2 MDM2 proto-oncogene gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1313299 D RGD:9068941 20211008 RGD associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) PMID:24732641|REF_RGD_ID:11073715
18343082 MDM2 MDM2 proto-oncogene gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:1313300 D RGD:9068941 20211008 RGD PMID:21498419|REF_RGD_ID:10412065
18343082 MDM2 MDM2 proto-oncogene gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1305332 D RGD:9068941 20211008 RGD protein:increased degradation:myocardium PMID:23530877|REF_RGD_ID:10412313
18343082 MDM2 MDM2 proto-oncogene gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1305332 D RGD:9068941 20241024 RGD protein:increased expression:pancreas (rat) PMID:19850968|REF_RGD_ID:2317361
18343082 MDM2 MDM2 proto-oncogene gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1313299 D RGD:8554872 20250114 ClinVar ClinVar Annotator: match by term: MDM2-related condition PMID:25741868|PMID:28492532
18343082 MDM2 MDM2 proto-oncogene gene DOID:9007608 Neoplastic Cell Transformation susceptibility ISO RGD:1313299 D RGD:7240710 20250115 OMIM
18343082 MDM2 MDM2 proto-oncogene gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1305332 D RGD:9068941 20211008 RGD protein:increased serine phosphorylation:heart ventricle (rat) PMID:14644432|REF_RGD_ID:2317401
18343082 MDM2 MDM2 proto-oncogene gene DOID:9008939 Breast Neoplasms ISO RGD:1313299 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26229107
18343082 MDM2 MDM2 proto-oncogene gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1313299 D RGD:9068941 20211008 RGD PMID:11064355|REF_RGD_ID:11251749
18343082 MDM2 MDM2 proto-oncogene gene DOID:9286 priapism ISO RGD:1305332 D RGD:9068941 20211008 RGD protein:increased expression:corpus cavernosum PMID:21085184|REF_RGD_ID:10412315
18343119 CHMP4A charged multivesicular body protein 4A gene DOID:0060439 lysinuric protein intolerance ISO RGD:1342527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532
18343119 CHMP4A charged multivesicular body protein 4A gene DOID:9000265 Specific Granule Deficiency ISO RGD:1342527 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532
18343119 CHMP4A charged multivesicular body protein 4A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1342527 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0050902 medulloblastoma ISO RGD:1346700 D RGD:7240710 20250108 OMIM
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0050902 medulloblastoma ISO RGD:1346700 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:12068298|PMID:17102621|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:24728327|PMID:25326637|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:28717660|PMID:28873162|PMID:29186568|PMID:29641532|PMID:29753700|PMID:33024317|PMID:34056767|PMID:34675124|PMID:35768194|PMID:36825822
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0060071 pre-malignant neoplasm ISO RGD:1559462 D RGD:9068941 20220114 RGD mRNA:decreased expression:stomach mucosa (rat) PMID:30537251|REF_RGD_ID:150520178
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0070366 nevoid basal cell carcinoma syndrome 2 ISO RGD:1346700 D RGD:7240710 20250108 OMIM
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0070366 nevoid basal cell carcinoma syndrome 2 ISO RGD:1346700 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2 PMID:12068298|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:25403219|PMID:25741868|PMID:28492532|PMID:29186568|PMID:29753700|PMID:33024317|PMID:34675124|PMID:35768194|PMID:36825822
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0080278 Joubert syndrome 32 ISO RGD:1346700 D RGD:7240710 20250108 OMIM
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0080278 Joubert syndrome 32 ISO RGD:1346700 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: JOUBERT SYNDROME 32 | ClinVar Annotator: match by term: Joubert syndrome 32 PMID:16199547|PMID:19833601|PMID:22508808|PMID:24728327|PMID:25741868|PMID:27930734|PMID:28492532|PMID:28965847|PMID:31781912|PMID:33024317
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1346700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:28492532
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:0080849 ocular motor apraxia, Cogan type ISO RGD:1346700 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Oculomotor apraxia - Cogan type PMID:25741868|PMID:33024317
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:10283 prostate cancer ISO RGD:1346700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1346700 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:23265383|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29489754|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:31639285|PMID:32278351|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:36825822|PMID:9536098
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1346700 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:23265383|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29489754|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:31639285|PMID:32278351|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:34675124|PMID:35768194|PMID:36825822|PMID:9536098
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1346700 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:23265383|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27793025|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29489754|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:31639285|PMID:31781912|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:34675124|PMID:35768194|PMID:36825822|PMID:9536098
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:2513 basal cell carcinoma ISO RGD:1346700 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26950094
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:3073 brain glioblastoma multiforme ISO RGD:1346700 D RGD:9068941 20220114 RGD human, rat, and/or mouse glioma cells in a mouse model PMID:30790292|REF_RGD_ID:150573813
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:3073 brain glioblastoma multiforme ISO RGD:1556878 D RGD:9068941 20220114 RGD human, rat, and/or mouse glioma cells in a mouse model PMID:30790292|REF_RGD_ID:150573813
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:3073 brain glioblastoma multiforme ISO RGD:1559462 D RGD:9068941 20220114 RGD human, rat, and/or mouse glioma cells in a mouse model PMID:30790292|REF_RGD_ID:150573813
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:3840 craniopharyngioma ISO RGD:1346700 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Rathke's pouch tumor PMID:25741868|PMID:28492532|PMID:29641532
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:3873 desmoplastic/nodular medulloblastoma ISO RGD:1346700 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma PMID:12068298
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:4586 familial meningioma ISO RGD:1346700 D RGD:7240710 20250108 OMIM
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:4586 familial meningioma ISO RGD:1346700 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27930734|PMID:28492532|PMID:28965847|PMID:29641532|PMID:29654263|PMID:30256826
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:4621 holoprosencephaly ISO RGD:1346700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microform holoprosencephaly PMID:24728327|PMID:27363716|PMID:28492532
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:8418 congenital fibrosarcoma ISO RGD:1346700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital fibrosarcoma
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346700 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346700 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12068298|PMID:17102621|PMID:17576681|PMID:21188540|PMID:22508808|PMID:23826113|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26184317|PMID:26467025|PMID:26580448|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28166811|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:9536098
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346700 D RGD:8554872 20230808 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 | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12068298|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:34675124|PMID:35768194|PMID:36825822|PMID:9536098
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346700 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: Neoplastic Syndromes, Hereditary PMID:12068298|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27793025|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:34675124|PMID:35768194|PMID:36825822|PMID:37140698|PMID:9536098
18343130 SUFU SUFU negative regulator of hedgehog signaling gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346700 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27793025
18343150 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353622 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059
18343150 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1353622 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059
18343150 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1353622 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:23453664|PMID:23729807|PMID:23959892|PMID:24009516|PMID:24033266|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:26025130|PMID:28492532
18343150 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1353622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059
18343150 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1353622 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059
18343150 TNFRSF6B TNF receptor superfamily member 6b gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353622 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059
18343150 TNFRSF6B TNF receptor superfamily member 6b gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
18343150 TNFRSF6B TNF receptor superfamily member 6b gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353622 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:14534157|PMID:19822871|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:27779742|PMID:28492532|PMID:30866059
18343150 TNFRSF6B TNF receptor superfamily member 6b gene DOID:2843 long QT syndrome ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555|PMID:28492532
18343157 TIMM9 translocase of inner mitochondrial membrane 9 gene DOID:0110992 Joubert syndrome 23 ISO RGD:1352655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532
18343165 SPX spexin hormone gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1606773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532
18343181 SPRYD7 SPRY domain containing 7 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
18343181 SPRYD7 SPRY domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1315052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1603397 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868|PMID:28492532|PMID:31407851|PMID:31784481|PMID:37638758
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:0060898 Parkinson's disease 20 ISO RGD:1603397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:0060953 ZTTK syndrome ISO RGD:1603397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1603397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1603397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 PMID:25741868
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:0081431 microcephaly, short stature, and limb abnormalities ISO RGD:1603397 D RGD:7240710 20200205 OMIM
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:0081431 microcephaly, short stature, and limb abnormalities ISO RGD:1603397 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: DONSON-related condition | ClinVar Annotator: match by term: Microcephaly, short stature, and limb abnormalities PMID:25741868|PMID:27040692|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851|PMID:31784481|PMID:34645488|PMID:37638758|PMID:37644014|PMID:8434992
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:0081432 microcephaly-micromelia syndrome ISO RGD:1603397 D RGD:7240710 20200923 OMIM
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:0081432 microcephaly-micromelia syndrome ISO RGD:1603397 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Microcephaly-micromelia syndrome PMID:25741868|PMID:27040692|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851|PMID:34645488|PMID:37644014
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:0111995 immunodeficiency 28 ISO RGD:1603397 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:17237124|PMID:23512985|PMID:28492532
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:1059 intellectual disability ISO RGD:1603397 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:31407851
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:10907 microcephaly ISO RGD:1603397 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:27040692|PMID:28191891|PMID:28331220|PMID:28492532|PMID:31407851
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:630 genetic disease ISO RGD:1603397 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27040692|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851|PMID:37644014
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:1603397 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
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:9007661 Dwarfism ISO RGD:1603397 D RGD:9068941 20250109 CTD CTD Direct Evidence: marker/mechanism PMID:28191891
18343195 DONSON DNA replication fork stabilization factor DONSON gene DOID:9008443 Colorectal Neoplasms ISO RGD:1603397 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25944804
18343245 VAPA VAMP associated protein A gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:737415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835
18343245 VAPA VAMP associated protein A gene DOID:1059 intellectual disability ISO RGD:737415 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability
18343245 VAPA VAMP associated protein A gene DOID:543 dystonia ISO RGD:737415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532
18343284 RAB32 RAB32, member RAS oncogene family gene DOID:1024 leprosy ISO RGD:1345972 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22019778
18343284 RAB32 RAB32, member RAS oncogene family gene DOID:14261 fragile X syndrome ISO RGD:1345972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fragile X syndrome
18343284 RAB32 RAB32, member RAS oncogene family gene DOID:14330 Parkinson's disease ISO RGD:1345972 D RGD:9068941 20240905 CTD CTD Direct Evidence: marker/mechanism PMID:38858457
18343284 RAB32 RAB32, member RAS oncogene family gene DOID:3042 allergic contact dermatitis ISO RGD:1345972 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17374397
18343284 RAB32 RAB32, member RAS oncogene family gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345972 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15308739
18343284 RAB32 RAB32, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345972 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
18343284 RAB32 RAB32, member RAS oncogene family gene DOID:9007415 Parkinson's Disease 26 susceptibility ISO RGD:1345972 D RGD:7240710 20240828 OMIM
18343291 LOC103233210 cytochrome b5 type B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:735287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532
18343291 LOC103233210 cytochrome b5 type B gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:735287 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736865 D RGD:9068941 20221217 RGD protein:increased expression:lung (human) PMID:29722558|REF_RGD_ID:155791445
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050331 lacrimoauriculodentodigital syndrome 1 ISO RGD:736865 D RGD:7240710 20230111 OMIM
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050331 lacrimoauriculodentodigital syndrome 1 ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: LADD syndrome 1 | ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16501574|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:18056630|PMID:18414213|PMID:20301628|PMID:20489451|PMID:20856019|PMID:21397175|PMID:22664175|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:26467025|PMID:27079505|PMID:27323706|PMID:28492532|PMID:29848297|PMID:31145570|PMID:31502745|PMID:32879300|PMID:36474027|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8696350|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9677057|PMID:9700203|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis ISO RGD:736865 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures PMID:10076886|PMID:10076887|PMID:10406670|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:15996217|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:18552176|PMID:20301628|PMID:20489451|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:26467025|PMID:26619011|PMID:27079505|PMID:28492532|PMID:31145570|PMID:36474027|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8651276|PMID:8696350|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9462761|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures PMID:10076886|PMID:10076887|PMID:10406670|PMID:10633130|PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:15996217|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:20301628|PMID:20489451|PMID:20856019|PMID:21397175|PMID:22664175|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:26467025|PMID:27079505|PMID:27323706|PMID:28492532|PMID:29848297|PMID:31145570|PMID:32879300|PMID:36474027|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8651276|PMID:8696350|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9462761|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050660 Beare-Stevenson cutis gyrata syndrome ISO RGD:736865 D RGD:7240710 20200205 OMIM
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050660 Beare-Stevenson cutis gyrata syndrome ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome | ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson PMID:11121055|PMID:11390973|PMID:11781872|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17264867|PMID:17525745|PMID:18247426|PMID:19610084|PMID:20301628|PMID:20489451|PMID:20856019|PMID:21397175|PMID:22664175|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26325558|PMID:26380986|PMID:26429889|PMID:26467025|PMID:27079505|PMID:27323706|PMID:28492532|PMID:29848297|PMID:31145570|PMID:32879300|PMID:36474027|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8696350|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9677057|PMID:9700203|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:736865 D RGD:9068941 20221201 RGD human cell line in a mouse model PMID:31255687|REF_RGD_ID:155663557
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0060321 umbilical hernia ISO RGD:10581 D RGD:9068941 20211008 RGD PMID:21238647|REF_RGD_ID:11567270
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0060992 bent bone dysplasia syndrome 1 ISO RGD:736865 D RGD:7240710 20200205 OMIM
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0060992 bent bone dysplasia syndrome 1 ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: BENT BONE DYSPLASIA SYNDROME 1 | ClinVar Annotator: match by term: Bent bone dysplasia syndrome 1 | ClinVar Annotator: match by term: FGFR2-related bent bone dysplasia PMID:11121055|PMID:11390973|PMID:11781872|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:20301628|PMID:20489451|PMID:20856019|PMID:21397175|PMID:22387015|PMID:22664175|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:26446305|PMID:26467025|PMID:26573129|PMID:27079505|PMID:27240702|PMID:27323706|PMID:28492532|PMID:29848297|PMID:31145570|PMID:32879300|PMID:36474027|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8696350|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9677057|PMID:9700203|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0080016 spina bifida ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:9605588
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:9002682
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0080216 duodenal atresia ISO RGD:10581 D RGD:9068941 20211008 RGD PMID:15185216|REF_RGD_ID:12801491
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 PMID:11781872|PMID:12884424|PMID:20643727|PMID:23348274|PMID:23754559|PMID:25271085|PMID:25741868|PMID:27228464|PMID:27683237|PMID:28492532|PMID:7874170
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0081289 Antley-Bixler syndrome ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures PMID:10076886|PMID:10076887|PMID:10406670|PMID:10633130|PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:15996217|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:20301628|PMID:20489451|PMID:20856019|PMID:21397175|PMID:22664175|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:26467025|PMID:27079505|PMID:27323706|PMID:28492532|PMID:29848297|PMID:31145570|PMID:32879300|PMID:36474027|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8651276|PMID:8696350|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9462761|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis ISO RGD:736865 D RGD:7240710 20200205 OMIM
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis PMID:10076886|PMID:10076887|PMID:10406670|PMID:10541159|PMID:10633130|PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15316116|PMID:15389579|PMID:15975938|PMID:15996217|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20856019|PMID:21397175|PMID:22558232|PMID:22664175|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25271085|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25867380|PMID:25937001|PMID:26362256|PMID:26380986|PMID:26467025|PMID:27079505|PMID:27323706|PMID:28492532|PMID:29848297|PMID:31145570|PMID:32879300|PMID:36474027|PMID:7607643|PMID:7668257|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9385368|PMID:9462761|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0081370 LADD syndrome ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16501574|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:18056630|PMID:18414213|PMID:20301628|PMID:20489451|PMID:20856019|PMID:21397175|PMID:22664175|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:26467025|PMID:27079505|PMID:27323706|PMID:28492532|PMID:29848297|PMID:31145570|PMID:31502745|PMID:32879300|PMID:36474027|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8696350|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9677057|PMID:9700203|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0090020 split hand-foot malformation ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:25741868
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:736865 D RGD:7240710 20200205 OMIM
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome PMID:10541159|PMID:10633130|PMID:11121055|PMID:11390973|PMID:11556600|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:19066959|PMID:20301628|PMID:20489451|PMID:20856019|PMID:21397175|PMID:22664175|PMID:22665975|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25271085|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25867380|PMID:25937001|PMID:26362256|PMID:26380986|PMID:26467025|PMID:27079505|PMID:27323706|PMID:27481450|PMID:28492532|PMID:29848297|PMID:31145570|PMID:32879300|PMID:36474027|PMID:7581378|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8528214|PMID:8644708|PMID:8651276|PMID:8696350|PMID:8957519|PMID:9002682|PMID:9385368|PMID:9462761|PMID:9586546|PMID:9677057|PMID:9700203|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:10003 sensorineural hearing loss ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:30311386|PMID:34652575
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer ISO RGD:2611 D RGD:9068941 20211008 RGD mRNA:splice variant::shift from Fgfr2IIIb to Fgfr2IIIc in malignancy, restoration of Fgfr2IIIb slows growth PMID:9537256|REF_RGD_ID:2289859
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer ISO RGD:736865 D RGD:9068941 20211008 RGD mRNA:alternative form:prostate:switch from isoform IIIb to IIIc PMID:11170144|REF_RGD_ID:2289746
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer ISO RGD:736865 D RGD:9068941 20211008 RGD mRNA:increased expression:prostate gland PMID:9285567|REF_RGD_ID:2289086
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:736865 D RGD:9068941 20211008 RGD mRNA:decreased expression:prostate:isoforms IIIb and IIIc, decrease in IIIb associated with progression to androgen-independence PMID:12111699|REF_RGD_ID:2289728
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer no_association ISO RGD:736865 D RGD:9068941 20211008 RGD DNA:mutation,polymorphism:exons:no mutations or polymorphisms found in patient or cell line DNA to explain changes in expression seen in other studies PMID:11069376|REF_RGD_ID:2289845
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:10486 intestinal atresia ISO RGD:10581 D RGD:9068941 20220825 MouseDO
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:10534 stomach cancer ISO RGD:736865 D RGD:7240710 20220209 OMIM
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:10534 stomach cancer ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10394936|PMID:11121055|PMID:11325814|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:20301628|PMID:22664175|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25741868|PMID:25759927|PMID:25867380|PMID:26380986|PMID:26467025|PMID:28492532|PMID:31145570|PMID:36474027|PMID:7655462|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9700203|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:10534 stomach cancer severity ISO RGD:736865 D RGD:9068941 20211008 RGD protein:increased expression:stomach (human) PMID:9816310|REF_RGD_ID:12801419
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:2611 D RGD:9068941 20211008 RGD PMID:11319911|REF_RGD_ID:12801430
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:1059 intellectual disability ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16465081
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:10762 portal hypertension ISO RGD:2611 D RGD:9068941 20230202 RGD mRNA, protein:decreased expression:esophagus mucosa (rat) PMID:8644008|REF_RGD_ID:155882599
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:10825 essential hypertension sexual_dimorphism ISO RGD:2611 D RGD:9068941 20221217 RGD mRNA, protein:decreased expression:inferior vagus X ganglion, nucleus of solitary tract (rat) PMID:31626954|REF_RGD_ID:155791444
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:10892 hypospadias ISO RGD:2611 D RGD:9068941 20211008 RGD mRNA:decreased expression:male genital tubercle (rat) PMID:19464577|REF_RGD_ID:2314151
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:736865 D RGD:9068941 20211008 RGD DNA:hypermethylation, loss of heterozygosity, deletions:exon (human) PMID:10602477|REF_RGD_ID:2301193
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:736865 D RGD:9068941 20211008 RGD associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion:cds:758C>G amino acid P253R PMID:16969861|REF_RGD_ID:2289664
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:1107 esophageal carcinoma ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:25157968|PMID:26619011
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:7240710 20200205 OMIM
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly PMID:10394936|PMID:10618369|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11173845|PMID:11390973|PMID:11781872|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12400058|PMID:12884424|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16969861|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:18552176|PMID:18726952|PMID:20133659|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:28166811|PMID:28492532|PMID:31145570|PMID:7607643|PMID:7668257|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:9150725|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9677057|PMID:9700203|PMID:9719378|PMID:9973282
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly PMID:10394936|PMID:10618369|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11390973|PMID:11781872|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:18541976|PMID:18618990|PMID:18726952|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20856019|PMID:21397175|PMID:22558232|PMID:22664175|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25271085|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26325558|PMID:26380986|PMID:26429889|PMID:26467025|PMID:270283566|PMID:27079505|PMID:27323706|PMID:27683237|PMID:28492532|PMID:28611549|PMID:29848297|PMID:30919572|PMID:31145570|PMID:32879300|PMID:36474027|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7795583|PMID:7874170|PMID:7987400|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9150725|PMID:9462761|PMID:9475591|PMID:9536098|PMID:9677057|PMID:9700203|PMID:9719378|PMID:9973282
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia severity ISO RGD:736865 D RGD:9068941 20211008 RGD DNA:missense mutation:cds:p.P253R (human) PMID:10735635|REF_RGD_ID:12801488
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia treatment ISO RGD:10581 D RGD:9068941 20211008 RGD PMID:17694057|REF_RGD_ID:12801474
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:736865 D RGD:9068941 20221217 RGD protein:increased expression:lung (human) PMID:29722558|REF_RGD_ID:155791445
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:14705 Pfeiffer syndrome ISO RGD:736865 D RGD:7240710 20200205 OMIM
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:14705 Pfeiffer syndrome ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10633130|PMID:10874645|PMID:10945669|PMID:11121055|PMID:11325814|PMID:11390973|PMID:11556600|PMID:11781872|PMID:11807866|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16199547|PMID:16418739|PMID:16440883|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:17576681|PMID:17803937|PMID:18541976|PMID:18618990|PMID:19066959|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:20856019|PMID:21397175|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23787031|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25271085|PMID:25361936|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:25937001|PMID:26289989|PMID:26362256|PMID:26380986|PMID:26467025|PMID:27028366|PMID:27079505|PMID:27228464|PMID:27323706|PMID:27481450|PMID:27683237|PMID:27803855|PMID:28492532|PMID:29848297|PMID:31145570|PMID:31754721|PMID:31827275|PMID:32879300|PMID:36474027|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9150725|PMID:9169049|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9531645|PMID:9536098|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:736865 D RGD:7240710 20200205 OMIM
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:11121055|PMID:11390973|PMID:11781872|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17264867|PMID:17525745|PMID:20301628|PMID:20489451|PMID:20856019|PMID:21397175|PMID:22664175|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26325558|PMID:26380986|PMID:26429889|PMID:26467025|PMID:27079505|PMID:27323706|PMID:28492532|PMID:29848297|PMID:31145570|PMID:32879300|PMID:36474027|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8696350|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9585583|PMID:9677057|PMID:9700203|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:1612 breast cancer ISO RGD:736865 D RGD:9068941 20211008 RGD DNA:SNP:intron:dbSNP ID rs2981582, p=2X10-76 PMID:17529967|REF_RGD_ID:2289657
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:1612 breast cancer ISO RGD:736865 D RGD:9068941 20211008 RGD sporadic postmenopausal breast cancer; DNA:SNP:intron:dbSNP ID rs1219648, p=1.1x10-10 PMID:17529973|REF_RGD_ID:2289658
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:1612 breast cancer exacerbates ISO RGD:10581 D RGD:9068941 20221208 RGD PMID:23185502|REF_RGD_ID:155663674
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:1657 ventricular septal defect ISO RGD:10581 D RGD:9068941 20221203 RGD PMID:16687131|REF_RGD_ID:155663670
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:736865 D RGD:9068941 20211008 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:1923 disorder of sexual development ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:1936 atherosclerosis treatment ISO RGD:10581 D RGD:9068941 20221217 RGD PMID:24224032|REF_RGD_ID:155791446
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2611 D RGD:9068941 20230202 RGD associated with Experimental Diabetes Mellitus PMID:22432030|REF_RGD_ID:155882598
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:227 ankylosis ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:9605588
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:2339 Crouzon syndrome ISO RGD:736865 D RGD:7240710 20200205 OMIM
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:2339 Crouzon syndrome ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Craniofacial dysostosis | ClinVar Annotator: match by term: Craniofacial dysostosis type 1 | ClinVar Annotator: match by term: Crouzon disease | ClinVar Annotator: match by term: Crouzon syndrome PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12186468|PMID:12357470|PMID:12477974|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16531735|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17621648|PMID:17693524|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:20856019|PMID:21397175|PMID:2172978|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23787031|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:25937001|PMID:26325558|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26557159|PMID:27028366|PMID:27079505|PMID:27228464|PMID:27323706|PMID:27430617|PMID:27481450|PMID:27683237|PMID:28492532|PMID:28611549|PMID:28901406|PMID:29037998|PMID:29848297|PMID:31145570|PMID:32879300|PMID:36474027|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9152842|PMID:9169049|PMID:9385368|PMID:9462761|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12357470|PMID:12400058|PMID:12477974|PMID:12575031|PMID:12575301|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15863034|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16199547|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16531735|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18391498|PMID:18541976|PMID:18552176|PMID:18618990|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:20856019|PMID:21189955|PMID:21367659|PMID:21397175|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25129254|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:25937001|PMID:26289989|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:270283566|PMID:27028366|PMID:27079505|PMID:27228464|PMID:27481450|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:29037998|PMID:29109840|PMID:31145570|PMID:4078868|PMID:7558045|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7795583|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18541976|PMID:18552176|PMID:18726952|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18541976|PMID:18552176|PMID:18726952|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18541976|PMID:18552176|PMID:18726952|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12186468|PMID:12357470|PMID:12400058|PMID:12477974|PMID:12575301|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16199547|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16531735|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:17873121|PMID:18247426|PMID:18391498|PMID:18414213|PMID:18541976|PMID:18552176|PMID:18618990|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:20856019|PMID:21189955|PMID:21367659|PMID:21397175|PMID:21524234|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25129254|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:25937001|PMID:26289989|PMID:26325558|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26557159|PMID:26619011|PMID:27028366|PMID:27079505|PMID:27228464|PMID:27430617|PMID:27481450|PMID:27527345|PMID:27683237|PMID:27803855|PMID:28492532|PMID:28611549|PMID:28901406|PMID:28990276|PMID:29037998|PMID:29095814|PMID:29109840|PMID:30919572|PMID:31145570|PMID:31502745|PMID:31754721|PMID:32595695|PMID:33937142|PMID:35802133|PMID:36633841|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7795583|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9152842|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9531645|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378|PMID:9973282
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12186468|PMID:12357470|PMID:12400058|PMID:12477974|PMID:12575301|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16199547|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16531735|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:17873121|PMID:18247426|PMID:18391498|PMID:18414213|PMID:18541976|PMID:18552176|PMID:18618990|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:20856019|PMID:21189955|PMID:21367659|PMID:21397175|PMID:21524234|PMID:2172978|PMID:21928350|PMID:22117175|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25129254|PMID:25157968|PMID:25174698|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:25937001|PMID:26289989|PMID:26325558|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26557159|PMID:26619011|PMID:270283566|PMID:27028366|PMID:27079505|PMID:27228464|PMID:27430617|PMID:27481450|PMID:27527345|PMID:27683237|PMID:27803855|PMID:28492532|PMID:28611549|PMID:28901406|PMID:28990276|PMID:29037998|PMID:29095814|PMID:29109840|PMID:30919572|PMID:31145570|PMID:31502745|PMID:31754721|PMID:32595695|PMID:33937142|PMID:35802133|PMID:36633841|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7795583|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9152842|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9531645|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378|PMID:9973282
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12186468|PMID:12357470|PMID:12400058|PMID:12477974|PMID:12575301|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16199547|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16531735|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:17873121|PMID:18247426|PMID:18391498|PMID:18414213|PMID:18541976|PMID:18552176|PMID:18618990|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:20856019|PMID:21189955|PMID:21367659|PMID:21397175|PMID:21524234|PMID:2172978|PMID:21928350|PMID:22117175|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25129254|PMID:25157968|PMID:25174698|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25640679|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:25937001|PMID:26289989|PMID:26325558|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26557159|PMID:26619011|PMID:270283566|PMID:27028366|PMID:27079505|PMID:27228464|PMID:27430617|PMID:27481450|PMID:27527345|PMID:27683237|PMID:27803855|PMID:28492532|PMID:28611549|PMID:28901406|PMID:28990276|PMID:29037998|PMID:29095814|PMID:29109840|PMID:30919572|PMID:31145570|PMID:31502745|PMID:31754721|PMID:32595695|PMID:33937142|PMID:35802133|PMID:36474027|PMID:36633841|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7795583|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9152842|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9531645|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378|PMID:9973282
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12186468|PMID:12357470|PMID:12400058|PMID:12477974|PMID:12575301|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16199547|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16531735|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17621648|PMID:17693524|PMID:17803937|PMID:17873121|PMID:18247426|PMID:18391498|PMID:18414213|PMID:18541976|PMID:18618990|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:20856019|PMID:21189955|PMID:21397175|PMID:21524234|PMID:2172978|PMID:21928350|PMID:22117175|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23787031|PMID:23995961|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25129254|PMID:25174698|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25640679|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:25937001|PMID:26289989|PMID:26325558|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26557159|PMID:270283566|PMID:27028366|PMID:27079505|PMID:27228464|PMID:27323706|PMID:27430617|PMID:27481450|PMID:27527345|PMID:27683237|PMID:27803855|PMID:28492532|PMID:28611549|PMID:28901406|PMID:28990276|PMID:29037998|PMID:29095814|PMID:29109840|PMID:29848297|PMID:30919572|PMID:31145570|PMID:31502745|PMID:31754721|PMID:32595695|PMID:32879300|PMID:33937142|PMID:35802133|PMID:36474027|PMID:36633841|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7795583|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9152842|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9531645|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378|PMID:9973282
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:736865 D RGD:9068941 20211008 RGD mRNA, protein:decreased expression:urinary bladder PMID:9018118|REF_RGD_ID:2301194
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:2871 endometrial carcinoma ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:16531735|PMID:17525745|PMID:20301628|PMID:20856019|PMID:21397175|PMID:22664175|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:27079505|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:8696350|PMID:9002682|PMID:9462761|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:289 endometriosis ISO RGD:736865 D RGD:9068941 20211008 RGD mRNA:increased expression:ovary, epithelial cell PMID:17482184|REF_RGD_ID:2301191
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:289 endometriosis no_association ISO RGD:736865 D RGD:9068941 20211008 RGD DNA:SNPs PMID:18285324|REF_RGD_ID:2301190
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:2938 Epstein-Barr virus infectious disease no_association ISO RGD:736865 D RGD:9068941 20211008 RGD DNA:missense mutation:cds:(rs755793) (human) PMID:29446487|REF_RGD_ID:38500242
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:37 skin disease ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22533443
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:736865 D RGD:8554872 20250114 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:4441 dysgerminoma ISO RGD:736865 D RGD:9068941 20211008 RGD associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion,duplication:cds:758C>G amino acid P253R, duplication of 10q26 resulting in one extra copy of FGFR2 PMID:17243131|REF_RGD_ID:2289660
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26258846
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17692400
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:5517 stomach carcinoma treatment ISO RGD:736865 D RGD:9068941 20221201 RGD human cell line in a mouse model PMID:31255687|REF_RGD_ID:155663557
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:5844 myocardial infarction ameliorates ISO RGD:10581 D RGD:9068941 20221201 RGD PMID:19358330|REF_RGD_ID:155663664
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:630 genetic disease ISO RGD:736865 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10067911|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:11173845|PMID:11343323|PMID:11781872|PMID:12884424|PMID:1519658|PMID:15793702|PMID:15883293|PMID:16061565|PMID:16418739|PMID:16501574|PMID:16740155|PMID:17693524|PMID:18726952|PMID:19610084|PMID:22387015|PMID:24127277|PMID:24486773|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25741868|PMID:26362256|PMID:26446305|PMID:26573129|PMID:27028366|PMID:27240702|PMID:28492532|PMID:28901406|PMID:4078868|PMID:7573032|PMID:7655462|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8528214|PMID:8755573|PMID:9585583
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:674 cleft palate ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17963255|PMID:29526646
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:736865 D RGD:9068941 20211008 RGD associated with hepatitis B;DNA:SNPs: promoter, intron:rs308379, rs1219648 (human) PMID:30952770|REF_RGD_ID:38501096
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:7843 female breast carcinoma treatment ISO RGD:736865 D RGD:9068941 20221201 RGD human cell line in a mouse model PMID:31255687|REF_RGD_ID:155663557
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:8632 Kaposi's sarcoma ISO RGD:736865 D RGD:9068941 20221203 RGD mRNA:increased expression:zone of skin (human) PMID:18804962|REF_RGD_ID:155663668
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:10581 D RGD:9068941 20211008 RGD PMID:14695195|REF_RGD_ID:2301192
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736865 D RGD:9068941 20211008 RGD associated with breast cancer;DNA:snp:intron:c.109+7033T>A (rs1219648) (human) PMID:20640597|REF_RGD_ID:7394846
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000146 Plaque, Atherosclerotic exacerbates ISO RGD:736865 D RGD:9068941 20221201 RGD mRNA, protein:decreased expression:carotid artery segment (human) PMID:24075588|REF_RGD_ID:155663561
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Gastric neoplasm | ClinVar Annotator: match by term: Stomach Neoplasms PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:15389579|PMID:16158432|PMID:16418739|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:20301628|PMID:20489451|PMID:20856019|PMID:21397175|PMID:24127277|PMID:24656465|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:27079505|PMID:27323706|PMID:28492532|PMID:29848297|PMID:31145570|PMID:32879300|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8696350|PMID:8957519|PMID:9677057|PMID:9700203
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000967 Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development ISO RGD:736865 D RGD:7240710 20200205 OMIM
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9000967 Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16501574|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:18414213|PMID:20301628|PMID:20489451|PMID:20856019|PMID:21397175|PMID:22664175|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:26467025|PMID:27079505|PMID:27323706|PMID:28492532|PMID:29848297|PMID:31145570|PMID:31502745|PMID:32879300|PMID:36474027|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8696350|PMID:8957519|PMID:9002682|PMID:9169049|PMID:9462761|PMID:9677057|PMID:9700203|PMID:9719378
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001347 Leg Ulcer ISO RGD:736865 D RGD:9068941 20221201 RGD associated with chronic venous insufficiency;DNA:SNP:3' utr: (human) PMID:15854058|REF_RGD_ID:155663562
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001471 Anorectal Malformations ISO RGD:2611 D RGD:9068941 20211008 RGD mRNA:decreased expression:rectum (rat) PMID:26514922|REF_RGD_ID:11052641
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001519 Acneiform Eruptions ISO RGD:736865 D RGD:9068941 20211008 RGD DNA:missense mutation:cds:p.S252W (human) PMID:18410418|REF_RGD_ID:12801492
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001553 Spinal Cord Compression ISO RGD:2611 D RGD:9068941 20221208 RGD protein:increased expression:spinal cord (rat) PMID:28981091|REF_RGD_ID:155782905
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9001946 Skin Abnormalities ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10631169
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736865 D RGD:9068941 20211008 RGD epithelial ovarian cancer (OMIM:604370); mRNA:increased expression:ovary PMID:11593393|REF_RGD_ID:2289733
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9003133 Hypertelorism ISO RGD:736865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11781872|PMID:12884424|PMID:20643727|PMID:23348274|PMID:23754559|PMID:25271085|PMID:25741868|PMID:27228464|PMID:27683237|PMID:28492532|PMID:7874170
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:736865 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase PMID:20547083|PMID:26284228|PMID:28492532
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736865 D RGD:9068941 20211008 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9003730 Chemical Burns ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22533443
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736865 D RGD:9068941 20250109 RGD DNA:mutations:exons,intron, splice site:varied mutations in different patients, mutations are somatic but identical germline mutations are associated with craniosynostosis and skeletal dysplasia syndromes PMID:17525745|REF_RGD_ID:2289862
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9004309 Congenital Aural Atresia ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: AURAL ATRESIA, CONGENITAL, WITH HYPOSMIA PMID:25741868|PMID:9150725
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:10581 D RGD:9068941 20221201 RGD associated with hypertension PMID:16549517|REF_RGD_ID:155663564
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17311802
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10581 D RGD:9068941 20221203 RGD protein:increased phosphorylation:kidney (mouse) PMID:20591940|REF_RGD_ID:155663667
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:10581 D RGD:9068941 20221208 RGD PMID:29344510|REF_RGD_ID:155782904
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury exacerbates ISO RGD:10581 D RGD:9068941 20221208 RGD PMID:32523960|REF_RGD_ID:155782882
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury exacerbates ISO RGD:2611 D RGD:9068941 20230128 RGD PMID:22688984|REF_RGD_ID:155882537
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006294 Congenital Limb Deformities ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10631169
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:736865 D RGD:9068941 20221201 RGD mRNA:increased expression:lung (rat) PMID:35600952|REF_RGD_ID:155663563
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9007653 Multiple Abnormalities ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10631169
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736865 D RGD:9068941 20250116 CTD CTD Direct Evidence: marker/mechanism PMID:21936542
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736865 D RGD:9068941 20250116 RGD DNA:mutations PMID:18552176|REF_RGD_ID:2301189
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:736865 D RGD:9068941 20211008 RGD DNA:SNP PMID:18785201|REF_RGD_ID:2301188
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008082 Plagiocephaly, Nonsynostotic ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:9152842
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:736865 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:11781872|PMID:15316116|PMID:16158432|PMID:16418739|PMID:16838304|PMID:17264867|PMID:20133659|PMID:22558232|PMID:24127277|PMID:24728327|PMID:25271085|PMID:25425289|PMID:25741868|PMID:26325558|PMID:26429889|PMID:26467025|PMID:27240702|PMID:28492532|PMID:7607643|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8650126|PMID:8755573|PMID:8957519
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:736865 D RGD:9068941 20211008 RGD associated with Craniosynostoses;DNA:missense mutations:cds:p.C342R, p.S252W (human) PMID:27481450|REF_RGD_ID:12801473
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:2611 D RGD:9068941 20211008 RGD associated with Esophageal Atresia;mRNA:decreased expression: tracheoesophageal septum, epithelium, mesenchyme (rat) PMID:15065023|REF_RGD_ID:12801427
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:10581 D RGD:9068941 20211008 RGD DNA:missense mutation:exon:p.S250W (mouse) PMID:21538817|REF_RGD_ID:11251832
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10631169|PMID:16465081|PMID:18082115
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:736865 D RGD:9068941 20250116 CTD CTD Direct Evidence: marker/mechanism PMID:17529967|PMID:17529973|PMID:18438407
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9009007 Tooth Abnormalities ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10631169
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9256 colorectal cancer ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9296 cleft lip ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17963255
18343329 FGFR2 fibroblast growth factor receptor 2 gene DOID:9923 developmental coordination disorder ISO RGD:736865 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16465081
18343329 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10533 viral pneumonia ISO RGD:10581 D RGD:9068941 20211008 RGD PMID:27322618|REF_RGD_ID:127284849
18343383 GIMAP1 GTPase, IMAP family member 1 gene DOID:2843 long QT syndrome ISO RGD:1350070 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532
18343410 ERMN ermin gene DOID:0060041 autism spectrum disorder ISO RGD:1318095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545
18343426 CRBN cereblon gene DOID:0060308 autosomal recessive intellectual developmental disorder ISO RGD:1551562 D RGD:9068941 20220825 MouseDO OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942
18343426 CRBN cereblon gene DOID:0081178 autosomal recessive intellectual developmental disorder 2 ISO RGD:1321492 D RGD:7240710 20200205 OMIM
18343426 CRBN cereblon gene DOID:0081178 autosomal recessive intellectual developmental disorder 2 ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CRBN-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A PMID:10932263|PMID:15557513|PMID:18414213|PMID:18414909|PMID:23983124|PMID:24088041|PMID:24993823|PMID:25741868|PMID:26633545|PMID:28143899|PMID:28492532
18343426 CRBN cereblon gene DOID:1059 intellectual disability ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868
18343426 CRBN cereblon gene DOID:630 genetic disease ISO RGD:1321492 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18343426 CRBN cereblon gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18343426 CRBN cereblon gene DOID:9006534 Nervous System Malformations ISO RGD:1321492 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27751757
18343426 CRBN cereblon gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:1321492 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27751757
18343426 CRBN cereblon gene DOID:9538 multiple myeloma ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma
18343441 SLC2A7 solute carrier family 2 member 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344587 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome
18343441 SLC2A7 solute carrier family 2 member 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18343475 NHLRC2 NHL repeat containing 2 gene DOID:630 genetic disease ISO RGD:1316494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868
18343475 NHLRC2 NHL repeat containing 2 gene DOID:9008399 FINCA Syndrome ISO RGD:1316494 D RGD:7240710 20200205 OMIM
18343475 NHLRC2 NHL repeat containing 2 gene DOID:9008399 FINCA Syndrome ISO RGD:1316494 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Fibrosis, neurodegeneration, and cerebral angiomatosis | ClinVar Annotator: match by term: NHLRC2-related condition PMID:25741868|PMID:29423877|PMID:30138417|PMID:30239752|PMID:32435055|PMID:34165204|PMID:37188825
18343499 NANOS1 nanos C2HC-type zinc finger 1 gene DOID:0070171 spermatogenic failure 12 ISO RGD:1317831 D RGD:7240710 20200205 OMIM
18343499 NANOS1 nanos C2HC-type zinc finger 1 gene DOID:0070171 spermatogenic failure 12 ISO RGD:1317831 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 12 PMID:25741868
18343499 NANOS1 nanos C2HC-type zinc finger 1 gene DOID:1790 malignant mesothelioma ISO RGD:1317831 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25756049
18343512 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:0110222 Brugada syndrome 5 ISO RGD:1347919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532
18343512 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1347919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532
18343512 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:543 dystonia ISO RGD:1347919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362
18343512 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:9001644 Familial Acne Inversa 2 ISO RGD:1347919 D RGD:7240710 20210721 OMIM
18343512 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:9001644 Familial Acne Inversa 2 ISO RGD:1347919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acne inversa, familial, 2 PMID:20929727|PMID:21412258|PMID:25741868|PMID:27900998|PMID:28287404|PMID:28492532|PMID:28601418
18343512 PSENEN presenilin enhancer, gamma-secretase subunit gene DOID:9008895 Familial Hidradenitis Suppurativa ISO RGD:1347919 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20929727
18343529 POGLUT1 protein O-glucosyltransferase 1 gene DOID:0060256 Dowling-Degos disease ISO RGD:1604326 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism
18343529 POGLUT1 protein O-glucosyltransferase 1 gene DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z ISO RGD:1604326 D RGD:7240710 20200205 OMIM
18343529 POGLUT1 protein O-glucosyltransferase 1 gene DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z ISO RGD:1604326 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Z | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2z | ClinVar Annotator: match by term: POGLUT1-related condition PMID:24387993|PMID:25741868|PMID:27807076|PMID:28492532|PMID:29569780|PMID:31897643
18343529 POGLUT1 protein O-glucosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1604326 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18343529 POGLUT1 protein O-glucosyltransferase 1 gene DOID:9003079 Dowling-Degos Disease 4 ISO RGD:1604326 D RGD:7240710 20200205 OMIM
18343529 POGLUT1 protein O-glucosyltransferase 1 gene DOID:9003079 Dowling-Degos Disease 4 ISO RGD:1604326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dowling-Degos disease 4 PMID:20664185|PMID:21971768|PMID:24387993|PMID:25741868|PMID:27479915|PMID:28492532|PMID:30414910
18343552 IQSEC3 IQ motif and Sec7 domain ArfGEF 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1605175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123
18343552 IQSEC3 IQ motif and Sec7 domain ArfGEF 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098
18343595 VPS8 VPS8 subunit of CORVET complex gene DOID:0111546 Currarino syndrome ISO RGD:1603690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440
18343595 VPS8 VPS8 subunit of CORVET complex gene DOID:9006836 Contracture ISO RGD:1603690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0060673 Peters anomaly ISO RGD:1352223 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:10234503|PMID:22361317|PMID:25741868|PMID:28492532|PMID:8364574
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0070530 foveal hypoplasia 1 ISO RGD:1352223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome PMID:10234503|PMID:22361317|PMID:25741868|PMID:28492532|PMID:8364574
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0070532 aniridia 1 ISO RGD:1352223 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10234503|PMID:10737978|PMID:11284764|PMID:11309364|PMID:11431688|PMID:12552561|PMID:12731001|PMID:15150775|PMID:16098226|PMID:17630404|PMID:18483559|PMID:19218613|PMID:22361317|PMID:24138039|PMID:24290376|PMID:25741868|PMID:26661695|PMID:27124303|PMID:27381094|PMID:27431685|PMID:28231309|PMID:28321846|PMID:28492532|PMID:29618921|PMID:30291432|PMID:8364574
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:1352223 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:10234503|PMID:22361317|PMID:25741868|PMID:28492532|PMID:8364574
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0111383 autosomal dominant keratitis ISO RGD:1352223 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Autosomal dominant keratitis | ClinVar Annotator: match by term: Dominantly inherited keratitis | ClinVar Annotator: match by term: Keratitis, hereditary PMID:25741868|PMID:28492532
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1352223 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868|PMID:28492532
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:1059 intellectual disability ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:10629 microphthalmia ISO RGD:1352223 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:25741868|PMID:28492532
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:11975 coloboma of optic nerve ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma of optic nerve | ClinVar Annotator: match by term: Congenital coloboma of the optic nerve PMID:25741868
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:12271 aniridia ISO RGD:1352223 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Congenital aniridia PMID:25741868|PMID:28492532
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:14515 WAGR syndrome ISO RGD:1352223 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome PMID:25741868|PMID:28492532
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:3764 Denys-Drash syndrome ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:5419 schizophrenia ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:630 genetic disease ISO RGD:1352223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9002049 Anophthalmia ISO RGD:1352223 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Anophthalmia PMID:25741868
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9003133 Hypertelorism ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11309364|PMID:11431688|PMID:12552561|PMID:12731001|PMID:16098226|PMID:25741868|PMID:27431685|PMID:28321846|PMID:28492532|PMID:29618921
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9003775 Chromosome 11p Deletion Syndrome ISO RGD:1352223 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: 11p deletion syndrome PMID:25741868|PMID:28492532
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9003911 Aniridia 2 ISO RGD:1352223 D RGD:7240710 20200205 OMIM
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9003911 Aniridia 2 ISO RGD:1352223 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aniridia 2 | ClinVar Annotator: match by term: ELP4-related condition PMID:25741868|PMID:26010655|PMID:28492532
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay
18343659 ELP4 elongator acetyltransferase complex subunit 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352223 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27793025
18343693 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060019 coronin-1A deficiency ISO RGD:736670 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532
18343693 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310
18343693 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:736670 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835
18343693 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:736670 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835
18343693 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:736670 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532
18343693 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:736670 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
18343693 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:736670 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734
18343693 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:12849 autistic disorder ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18343693 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:12930 dilated cardiomyopathy ISO RGD:736670 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:28492532
18343693 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:5419 schizophrenia ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18343693 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18343693 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:736670 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532
18343693 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:9009225 Episodic Kinesigenic Dyskinesia ISO RGD:736670 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532
18343704 SIRPA signal regulatory protein alpha gene DOID:0060071 pre-malignant neoplasm ISO RGD:736759 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21472284
18343732 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:0051032 Primary Autosomal Recessive Microcephaly 21 ISO RGD:1604840 D RGD:7240710 20200205 OMIM
18343732 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:0051032 Primary Autosomal Recessive Microcephaly 21 ISO RGD:1604840 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive | ClinVar Annotator: match by term: NCAPD2-related condition PMID:25741868|PMID:28492532
18343732 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604840 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532
18343732 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532
18343732 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:0111621 Temtamy syndrome ISO RGD:1604840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532
18343732 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:630 genetic disease ISO RGD:1604840 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
18343732 NCAPD2 non-SMC condensin I complex subunit D2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098
18343776 APP amyloid beta precursor protein gene DOID:0050700 cardiomyopathy ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29068127
18343776 APP amyloid beta precursor protein gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:2139 D RGD:9068941 20211008 RGD associated with type 2 diabetes mellitus PMID:28885995|REF_RGD_ID:13782056
18343776 APP amyloid beta precursor protein gene DOID:0070027 CST3-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis PMID:25604855|PMID:25741868|PMID:28492532|PMID:30279455
18343776 APP amyloid beta precursor protein gene DOID:0070028 APP-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:7240710 20200205 OMIM
18343776 APP amyloid beta precursor protein gene DOID:0070028 APP-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT | ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related PMID:10441572|PMID:10631141|PMID:10821838|PMID:11004129|PMID:11311152|PMID:11409420|PMID:11441013|PMID:11487570|PMID:11528419|PMID:11568920|PMID:11978821|PMID:12552037|PMID:12654973|PMID:1303172|PMID:1303239|PMID:1303275|PMID:1415269|PMID:14623725|PMID:1520398|PMID:15365148|PMID:15488330|PMID:15502844|PMID:15776278|PMID:16033913|PMID:16178030|PMID:1634237|PMID:1671712|PMID:1674311|PMID:1678057|PMID:1678058|PMID:1679288|PMID:1679289|PMID:16921174|PMID:16931535|PMID:18413473|PMID:19061884|PMID:1908231|PMID:19225789|PMID:1925564|PMID:19281847|PMID:19363265|PMID:20228223|PMID:20301414|PMID:20523046|PMID:20697050|PMID:2111584|PMID:21193246|PMID:21210284|PMID:22503161|PMID:22514144|PMID:23143229|PMID:23224319|PMID:23919771|PMID:24033266|PMID:24278680|PMID:24524897|PMID:24650794|PMID:24878480|PMID:25138979|PMID:25604855|PMID:25741868|PMID:25948718|PMID:26104569|PMID:26402770|PMID:26467025|PMID:26803359|PMID:27000221|PMID:27838006|PMID:27858710|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29859640|PMID:30279455|PMID:30868685|PMID:31011484|PMID:31937505|PMID:32087291|PMID:32317127|PMID:32775599|PMID:32908482|PMID:32917274|PMID:34532568|PMID:36133075|PMID:37051054|PMID:37170141|PMID:7611715|PMID:8191290|PMID:8290965|PMID:8410047|PMID:8499923|PMID:8513318|PMID:8577393|PMID:8610157|PMID:8649577|PMID:8863158|PMID:8886002|PMID:9328472|PMID:9754958|PMID:9848098
18343776 APP amyloid beta precursor protein gene DOID:0080348 Alzheimer's disease 1 ISO RGD:736021 D RGD:7240710 20200205 OMIM
18343776 APP amyloid beta precursor protein gene DOID:0080348 Alzheimer's disease 1 ISO RGD:736021 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: APP POLYMORPHISM | ClinVar Annotator: match by term: APP-related condition | ClinVar Annotator: match by term: Alzheimer disease type 1 PMID:10097173|PMID:10441572|PMID:10611368|PMID:10631141|PMID:10821838|PMID:10867787|PMID:11004129|PMID:11063718|PMID:11311152|PMID:11487570|PMID:11528419|PMID:11568920|PMID:11910111|PMID:11978821|PMID:12034808|PMID:12552037|PMID:12707272|PMID:1303172|PMID:1303239|PMID:1303275|PMID:1415269|PMID:14623725|PMID:14769392|PMID:1520398|PMID:15365148|PMID:15488330|PMID:15502844|PMID:15668448|PMID:15776278|PMID:1584464|PMID:16033913|PMID:1634237|PMID:16505331|PMID:1671712|PMID:1674311|PMID:1678057|PMID:1678058|PMID:1679288|PMID:16931535|PMID:17170111|PMID:17493013|PMID:17576681|PMID:18187157|PMID:18234110|PMID:18413473|PMID:18437002|PMID:1908231|PMID:1925564|PMID:19281847|PMID:19363265|PMID:1944558|PMID:19950418|PMID:20005601|PMID:20063202|PMID:20301414|PMID:20452980|PMID:20452985|PMID:20523046|PMID:20634584|PMID:21210284|PMID:21777674|PMID:21980910|PMID:22312439|PMID:22503161|PMID:22702962|PMID:23143229|PMID:23224319|PMID:23380992|PMID:23515184|PMID:24033266|PMID:24278680|PMID:24390130|PMID:24524897|PMID:24650794|PMID:24677022|PMID:24694184|PMID:24880964|PMID:24949887|PMID:25053581|PMID:25104557|PMID:25137638|PMID:25138979|PMID:25174650|PMID:25604855|PMID:25703165|PMID:25741868|PMID:25948718|PMID:26242991|PMID:26402770|PMID:26444762|PMID:26467025|PMID:26803359|PMID:26888304|PMID:27312774|PMID:27777022|PMID:27838006|PMID:28304299|PMID:28350801|PMID:28492532|PMID:28985224|PMID:29263818|PMID:29455155|PMID:29459625|PMID:29692703|PMID:29770843|PMID:29859640|PMID:30045758|PMID:30114415|PMID:30279455|PMID:31011484|PMID:31719132|PMID:32087291|PMID:32317127|PMID:32775599|PMID:32908482|PMID:32917274|PMID:33268848|PMID:33445953|PMID:33601107|PMID:35861376|PMID:36133075|PMID:38137339|PMID:7611715|PMID:7686976|PMID:7806491|PMID:7845465|PMID:8154870|PMID:8191290|PMID:8290965|PMID:8410047|PMID:8461968|PMID:8499923|PMID:8513318|PMID:8577393|PMID:8644866|PMID:8649577|PMID:8650548|PMID:8863158|PMID:8886002|PMID:9328472|PMID:9536098|PMID:9754958|PMID:9848098
18343776 APP amyloid beta precursor protein gene DOID:0081292 traumatic brain injury treatment ISO RGD:736021 D RGD:9068941 20211008 RGD PMID:29320530|REF_RGD_ID:13782048
18343776 APP amyloid beta precursor protein gene DOID:0081420 familial focal epilepsy with variable foci ISO RGD:736021 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial focal epilepsy with variable foci PMID:25741868
18343776 APP amyloid beta precursor protein gene DOID:10652 Alzheimer's disease ISO RGD:736021 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, early onset | ClinVar Annotator: match by term: Alzheimer disease, protection against | ClinVar Annotator: match by term: Alzheimer's disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease PMID:10097173|PMID:10441572|PMID:10611368|PMID:10631141|PMID:10821838|PMID:11004129|PMID:11063718|PMID:11311152|PMID:11409420|PMID:11441013|PMID:11487570|PMID:11528419|PMID:11568920|PMID:11735772|PMID:11910111|PMID:11978821|PMID:12034808|PMID:12392798|PMID:12552037|PMID:12654973|PMID:12707272|PMID:1303172|PMID:1303239|PMID:1303275|PMID:1307241|PMID:1415269|PMID:14623725|PMID:14769392|PMID:1520398|PMID:15365148|PMID:15488330|PMID:15502844|PMID:15776278|PMID:16033913|PMID:16199547|PMID:1634237|PMID:16369530|PMID:1671712|PMID:1674311|PMID:1678057|PMID:1678058|PMID:1679288|PMID:1679289|PMID:16921174|PMID:16931535|PMID:17576681|PMID:17873282|PMID:18187157|PMID:18234110|PMID:18413473|PMID:18437002|PMID:18667258|PMID:19061884|PMID:1908231|PMID:1925564|PMID:19281847|PMID:19286555|PMID:19363265|PMID:20228223|PMID:20301414|PMID:20452985|PMID:20523046|PMID:2111584|PMID:21210284|PMID:22312439|PMID:22491860|PMID:22503161|PMID:22801501|PMID:23143229|PMID:23224319|PMID:23515184|PMID:23919771|PMID:24033266|PMID:24117942|PMID:24278680|PMID:24390130|PMID:24524897|PMID:24650794|PMID:24677022|PMID:24680827|PMID:24691562|PMID:24694184|PMID:24878480|PMID:25104557|PMID:25138979|PMID:25174650|PMID:25604855|PMID:25617006|PMID:25741868|PMID:25948718|PMID:26104569|PMID:26242991|PMID:26402770|PMID:26467025|PMID:26803359|PMID:27000221|PMID:27312774|PMID:27838006|PMID:27858710|PMID:28106563|PMID:28304299|PMID:28350801|PMID:28492532|PMID:28985224|PMID:29263818|PMID:29455155|PMID:29459625|PMID:29692703|PMID:29859640|PMID:30114415|PMID:30279455|PMID:30868685|PMID:31011484|PMID:31557888|PMID:31719132|PMID:31836585|PMID:31914229|PMID:31937505|PMID:32087291|PMID:32317127|PMID:32345996|PMID:32775599|PMID:32908482|PMID:32917274|PMID:33268848|PMID:33445953|PMID:33601107|PMID:35861376|PMID:35873773|PMID:36133075|PMID:38137339|PMID:7611715|PMID:7633445|PMID:7686976|PMID:7806491|PMID:7845465|PMID:8154870|PMID:8191290|PMID:8290965|PMID:8291572|PMID:8410047|PMID:8499923|PMID:8513318|PMID:8577393|PMID:8610157|PMID:8649577|PMID:8863158|PMID:8886002|PMID:9328472|PMID:9536098|PMID:9754958|PMID:9848098
18343776 APP amyloid beta precursor protein gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736021 D RGD:9068941 20211008 RGD PMID:16369530|REF_RGD_ID:1599199
18343776 APP amyloid beta precursor protein gene DOID:10652 Alzheimer's disease treatment ISO RGD:2139 D RGD:9068941 20211008 RGD associated with hypertension PMID:29568075|REF_RGD_ID:13782047
18343776 APP amyloid beta precursor protein gene DOID:10763 hypertension ISO RGD:2139 D RGD:9068941 20211008 RGD PMID:29713228|REF_RGD_ID:13703136
18343776 APP amyloid beta precursor protein gene DOID:10914 amnestic disorder ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12642396
18343776 APP amyloid beta precursor protein gene DOID:11758 iron deficiency anemia ISO RGD:2139 D RGD:9068941 20211008 RGD mRNA:decreased expression:hippocampus: PMID:18723004|REF_RGD_ID:2301196
18343776 APP amyloid beta precursor protein gene DOID:1289 neurodegenerative disease ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16122394|PMID:23541064
18343776 APP amyloid beta precursor protein gene DOID:1307 dementia ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22300406
18343776 APP amyloid beta precursor protein gene DOID:14261 fragile X syndrome ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:22046307
18343776 APP amyloid beta precursor protein gene DOID:1561 cognitive disorder ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17406652|PMID:17600377|PMID:21350020|PMID:24189446|PMID:26945731|PMID:32522471
18343776 APP amyloid beta precursor protein gene DOID:1561 cognitive disorder ISO RGD:736021 D RGD:9068941 20211008 RGD PMID:17536186|PMID:19101630|REF_RGD_ID:10054259|REF_RGD_ID:10054262
18343776 APP amyloid beta precursor protein gene DOID:2030 anxiety disorder ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19664757
18343776 APP amyloid beta precursor protein gene DOID:319 spinal cord disease ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:11800653
18343776 APP amyloid beta precursor protein gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2139 D RGD:9068941 20211008 RGD PMID:28963051|REF_RGD_ID:13782054
18343776 APP amyloid beta precursor protein gene DOID:630 genetic disease ISO RGD:736021 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532
18343776 APP amyloid beta precursor protein gene DOID:824 periodontitis ISO RGD:736021 D RGD:9068941 20211008 RGD mRNA:increased expression:gingiva PMID:28285126|REF_RGD_ID:13801025
18343776 APP amyloid beta precursor protein gene DOID:8725 vascular dementia ISO RGD:736021 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:22312439|PMID:25104557|PMID:25174650|PMID:25604855|PMID:26242991|PMID:26467025|PMID:27312774|PMID:28492532|PMID:28985224|PMID:29455155|PMID:29692703|PMID:30114415|PMID:32087291|PMID:32917274|PMID:33268848|PMID:33601107|PMID:35861376|PMID:38137339
18343776 APP amyloid beta precursor protein gene DOID:8927 learning disability ISO RGD:736021 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:16474004|PMID:18533140|PMID:20816828|PMID:22484447|PMID:25213453|PMID:26420483|PMID:27306655|PMID:29729307|PMID:35247505
18343776 APP amyloid beta precursor protein gene DOID:9000412 Presenile and Senile Dementia ISO RGD:736021 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Presenile and senile dementia PMID:10821838|PMID:11004129|PMID:11311152|PMID:11409420|PMID:11441013|PMID:11528419|PMID:12654973|PMID:1303239|PMID:1303275|PMID:1415269|PMID:15365148|PMID:15488330|PMID:15502844|PMID:1679289|PMID:17576681|PMID:18413473|PMID:19061884|PMID:19363265|PMID:20228223|PMID:20301414|PMID:2111584|PMID:22312439|PMID:23143229|PMID:23224319|PMID:23919771|PMID:24033266|PMID:24278680|PMID:24524897|PMID:24650794|PMID:24878480|PMID:25104557|PMID:25174650|PMID:25604855|PMID:25741868|PMID:25948718|PMID:26104569|PMID:26242991|PMID:26402770|PMID:26467025|PMID:26803359|PMID:27000221|PMID:27312774|PMID:27858710|PMID:28304299|PMID:28350801|PMID:28492532|PMID:28985224|PMID:29263818|PMID:29455155|PMID:29459625|PMID:29692703|PMID:29859640|PMID:30114415|PMID:30279455|PMID:30868685|PMID:31011484|PMID:31719132|PMID:31836585|PMID:32087291|PMID:32317127|PMID:32775599|PMID:32908482|PMID:32917274|PMID:33268848|PMID:33445953|PMID:33601107|PMID:35861376|PMID:36133075|PMID:38137339|PMID:8154870|PMID:8499923|PMID:8610157|PMID:9536098|PMID:9754958|PMID:9848098
18343776 APP amyloid beta precursor protein gene DOID:9000998 Brain Injuries ISO RGD:736021 D RGD:9068941 20211008 RGD protein:increased expression:hippocampus PMID:16300758|REF_RGD_ID:10054281
18343776 APP amyloid beta precursor protein gene DOID:9001020 Eye Manifestations ISO RGD:736021 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:35247505
18343776 APP amyloid beta precursor protein gene DOID:9001111 Blast Injuries ISO RGD:2139 D RGD:9068941 20211008 RGD PMID:24224042|REF_RGD_ID:10054251
18343776 APP amyloid beta precursor protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
18343776 APP amyloid beta precursor protein gene DOID:9001579 Neurogenic Inflammation ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20816828|PMID:25288670
18343776 APP amyloid beta precursor protein gene DOID:9002644 Premature Aging ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23129026
18343776 APP amyloid beta precursor protein gene DOID:9002720 Splenomegaly ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27117003
18343776 APP amyloid beta precursor protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:2139 D RGD:9068941 20211008 RGD associated with Chronic Cerebral Hypoperfusion PMID:28836062|REF_RGD_ID:13782057
18343776 APP amyloid beta precursor protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:2139 D RGD:9068941 20211008 RGD associated with Sleep Deprivation PMID:28455102|REF_RGD_ID:13782059
18343776 APP amyloid beta precursor protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25288670
18343776 APP amyloid beta precursor protein gene DOID:9002955 Nerve Degeneration ISO RGD:736021 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:11784781|PMID:11800653|PMID:12396081|PMID:12963085|PMID:16951259|PMID:17600377|PMID:19631677|PMID:20111991|PMID:20359466|PMID:23726866|PMID:23827522|PMID:33971107
18343776 APP amyloid beta precursor protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18343776 APP amyloid beta precursor protein gene DOID:9004657 Weight Gain ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19030233
18343776 APP amyloid beta precursor protein gene DOID:9005181 Multi-Infarct Dementia ISO RGD:736021 D RGD:9068941 20211008 RGD protein:decreased expression:cerebrospinal fluid: PMID:1677459|REF_RGD_ID:10054257
18343776 APP amyloid beta precursor protein gene DOID:9005246 Paralysis ISO RGD:736021 D RGD:9068941 20250116 CTD CTD Direct Evidence: marker/mechanism PMID:16122394|PMID:18762355|PMID:21706413|PMID:22952840|PMID:28915354|PMID:33290254|PMID:34902447|PMID:38552766
18343776 APP amyloid beta precursor protein gene DOID:9005393 Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy ISO RGD:736021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy PMID:16369530|PMID:19047566
18343776 APP amyloid beta precursor protein gene DOID:9005749 Necrosis ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21839817
18343776 APP amyloid beta precursor protein gene DOID:9005832 Amyloid Plaques ISO RGD:736021 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:19818510|PMID:29729307|PMID:31939705|PMID:33096116
18343776 APP amyloid beta precursor protein gene DOID:9006118 Amyloid Angiopathy ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:31939705
18343776 APP amyloid beta precursor protein gene DOID:9006205 Animal Disease Models ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12746438|PMID:16651627|PMID:25881725|PMID:27567873|PMID:31939705
18343776 APP amyloid beta precursor protein gene DOID:9006478 Amyloid Neuropathies ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27567873
18343776 APP amyloid beta precursor protein gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:2139 D RGD:9068941 20211008 RGD PMID:28446186|REF_RGD_ID:13782060
18343776 APP amyloid beta precursor protein gene DOID:9007090 Experimental Seizures susceptibility ISO RGD:736021 D RGD:9068941 20241107 RGD associated with Alzheimer Disease PMID:25879152|REF_RGD_ID:10054263
18343776 APP amyloid beta precursor protein gene DOID:9007402 Gliosis ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27567873
18343776 APP amyloid beta precursor protein gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2139 D RGD:9068941 20211008 RGD protein:increased expression:cerebral white matter: PMID:11743996|REF_RGD_ID:10054250
18343776 APP amyloid beta precursor protein gene DOID:9008023 Memory Disorders ISO RGD:736021 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:15364477|PMID:18191838|PMID:18599028|PMID:19664757|PMID:19770021|PMID:20816828|PMID:22484447|PMID:23827522|PMID:24858312|PMID:25213453|PMID:25881725|PMID:26420483|PMID:26480858|PMID:27306655|PMID:27567873|PMID:28448946|PMID:29729307|PMID:35247505
18343776 APP amyloid beta precursor protein gene DOID:9009105 HIV Encephalitis ISO RGD:736021 D RGD:9068941 20211008 RGD PMID:29632166|REF_RGD_ID:13782045
18343776 APP amyloid beta precursor protein gene DOID:9120 amyloidosis ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23541064
18343776 APP amyloid beta precursor protein gene DOID:9246 cerebral amyloid angiopathy ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21520056
18343776 APP amyloid beta precursor protein gene DOID:936 brain disease ISO RGD:736021 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:11800653
18343776 APP amyloid beta precursor protein gene DOID:9970 obesity treatment ISO RGD:736021 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:adipocyte,plasma: PMID:19672057|REF_RGD_ID:10054260
18343816 NXT2 nuclear transport factor 2 like export factor 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1350653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532
18343816 NXT2 nuclear transport factor 2 like export factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
18343816 NXT2 nuclear transport factor 2 like export factor 2 gene DOID:0111823 autosomal hemophilia A ISO RGD:1350653 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
18343816 NXT2 nuclear transport factor 2 like export factor 2 gene DOID:12134 factor VIII deficiency ISO RGD:1350653 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
18343816 NXT2 nuclear transport factor 2 like export factor 2 gene DOID:12336 male infertility ISO RGD:1350653 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Male infertility PMID:25741868
18343816 NXT2 nuclear transport factor 2 like export factor 2 gene DOID:12849 autistic disorder ISO RGD:1350653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18343842 AGTRAP angiotensin II receptor associated protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1350151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532
18343842 AGTRAP angiotensin II receptor associated protein gene DOID:0060158 acquired metabolic disease ISO RGD:1552153 D RGD:9068941 20220825 MouseDO
18343842 AGTRAP angiotensin II receptor associated protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350151 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome
18343842 AGTRAP angiotensin II receptor associated protein gene DOID:10763 hypertension ISO RGD:1359346 D RGD:9068941 20211008 RGD protein:increased expression:kidney PMID:18725581|REF_RGD_ID:2314351
18343842 AGTRAP angiotensin II receptor associated protein gene DOID:9003936 Cardiomegaly ISO RGD:1359346 D RGD:9068941 20211008 RGD PMID:18725581|REF_RGD_ID:2314351
18343842 AGTRAP angiotensin II receptor associated protein gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1350151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532
18343855 SUPV3L1 Suv3 like RNA helicase gene DOID:1697 ichthyosis ISO RGD:1313667 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19145458
18343855 SUPV3L1 Suv3 like RNA helicase gene DOID:9001946 Skin Abnormalities ISO RGD:1313667 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19145458
18343855 SUPV3L1 Suv3 like RNA helicase gene DOID:9008824 Sarcopenia ISO RGD:1313667 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19145458
18343855 SUPV3L1 Suv3 like RNA helicase gene DOID:987 alopecia ISO RGD:1313667 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19145458
18343963 ABCF2 ATP binding cassette subfamily F member 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1312673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532
18343963 ABCF2 ATP binding cassette subfamily F member 2 gene DOID:2843 long QT syndrome ISO RGD:1312673 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:21185499|PMID:25606385|PMID:28492532
18343963 ABCF2 ATP binding cassette subfamily F member 2 gene DOID:9000918 Disease Progression ISO RGD:1312673 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22294766
18343986 DISP1 dispatched RND transporter family member 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1317002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325
18343986 DISP1 dispatched RND transporter family member 1 gene DOID:0110876 holoprosencephaly 7 ISO RGD:1317002 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 7 PMID:25741868
18343986 DISP1 dispatched RND transporter family member 1 gene DOID:10485 esophageal atresia ISO RGD:1317002 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Esophageal atresia PMID:25741868|PMID:36135330
18343986 DISP1 dispatched RND transporter family member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1317002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18343986 DISP1 dispatched RND transporter family member 1 gene DOID:4621 holoprosencephaly ISO RGD:1317002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly PMID:25741868|PMID:28492532|PMID:28640243
18343986 DISP1 dispatched RND transporter family member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18344018 UBAC1 UBA domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758
18344018 UBAC1 UBA domain containing 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1346576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532
18344018 UBAC1 UBA domain containing 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1346576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532
18344018 UBAC1 UBA domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532
18344018 UBAC1 UBA domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1346576 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532
18344018 UBAC1 UBA domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1346576 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
18344018 UBAC1 UBA domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532
18344018 UBAC1 UBA domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1346576 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
18344018 UBAC1 UBA domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982
18344018 UBAC1 UBA domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532
18344018 UBAC1 UBA domain containing 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1346576 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|PMID:29907982
18344034 CYLC2 cylicin 2 gene DOID:1059 intellectual disability ISO RGD:1344761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18344050 COMMD5 COMM domain containing 5 gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:1348607 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835
18344088 UNC5A unc-5 netrin receptor A gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532
18344088 UNC5A unc-5 netrin receptor A gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344019 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
18344088 UNC5A unc-5 netrin receptor A gene DOID:14748 Sotos syndrome ISO RGD:1344019 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145
18344088 UNC5A unc-5 netrin receptor A gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868
18344088 UNC5A unc-5 netrin receptor A gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1344019 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835
18344129 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:1618964 D RGD:9068941 20220825 MouseDO OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819
18344129 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1318756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835
18344129 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1318756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:19836009|PMID:24940034|PMID:28492532|PMID:32499604
18344129 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:1070 primary open angle glaucoma ISO RGD:12401864 D RGD:9068941 20230824 OMIA Glaucoma, primary open angle, ADAMTS17-related PMID:26277300|PMID:26456751|PMID:26474315|PMID:26683476|PMID:26945802|PMID:27192202|PMID:27681326|PMID:28176809|PMID:29287154|PMID:31131111|PMID:37582787
18344129 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:630 genetic disease ISO RGD:1318756 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18344129 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:9007188 Liver Neoplasms ISO RGD:1318756 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19233941
18344129 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:9008508 Weill-Marchesani Syndrome 4 ISO RGD:1318756 D RGD:7240710 20200205 OMIM
18344129 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:9008508 Weill-Marchesani Syndrome 4 ISO RGD:1318756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ADAMTS17-related condition | ClinVar Annotator: match by term: ADAMTS17-related disorder | ClinVar Annotator: match by term: Weill-Marchesani syndrome 4 | ClinVar Annotator: match by term: Weill-Marchesani-like syndrome PMID:17576681|PMID:19836009|PMID:22486325|PMID:24940034|PMID:25741868|PMID:28492532|PMID:31848748|PMID:32616716|PMID:9536098
18344160 ZNF157 zinc finger protein 157 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
18344160 ZNF157 zinc finger protein 157 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532
18344160 ZNF157 zinc finger protein 157 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532
18344160 ZNF157 zinc finger protein 157 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532
18344160 ZNF157 zinc finger protein 157 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1344228 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
18344160 ZNF157 zinc finger protein 157 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1344228 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
18344160 ZNF157 zinc finger protein 157 gene DOID:12849 autistic disorder ISO RGD:1344228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0050073 invasive aspergillosis severity ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:11160230|REF_RGD_ID:11528533
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0050700 cardiomyopathy ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:myocardium PMID:18806609|REF_RGD_ID:2307006
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:plasma PMID:20855682|REF_RGD_ID:4891459
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:3645 D RGD:9068941 20220715 RGD associated with social isolation;protein:increased expression:tongue (rat) PMID:33411841|REF_RGD_ID:152998999
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:polymorphism,haplotype::2518A>G(human) PMID:21883707|REF_RGD_ID:8661694
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0060180 colitis ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:18690297|REF_RGD_ID:2307009
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0070508 metabolic dysfunction and alcohol associated liver disease treatment ISO RGD:11275 D RGD:9068941 20240801 RGD PMID:25557254|PMID:30611703|REF_RGD_ID:14995489|REF_RGD_ID:407424594
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080016 spina bifida ISO RGD:731046 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Spina bifida, susceptibility to PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080158 herpes simplex virus keratitis severity ISO RGD:11275 D RGD:9068941 20211008 RGD associated with Herpes Simplex, Type 1 PMID:16997857|REF_RGD_ID:8548890
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080162 lupus nephritis severity ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:urine (human) PMID:8558841|REF_RGD_ID:8549732
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080162 lupus nephritis susceptibility ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:15188361|REF_RGD_ID:11528534
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:plasma PMID:25813056|REF_RGD_ID:14995922
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:24927058|REF_RGD_ID:14995928
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:11275 D RGD:9068941 20211008 RGD mRNA:increased expression:liver PMID:30369082|REF_RGD_ID:14995462
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:11275 D RGD:9068941 20240831 RGD mRNA:altered expression:liver (mouse) PMID:24294355|REF_RGD_ID:407446378
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:731046 D RGD:9068941 20211008 RGD RNA:increased expression:liver: PMID:24429361|REF_RGD_ID:14975280
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis susceptibility ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:increased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20484496
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:31986264
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:731046 D RGD:9068941 20211008 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 severity ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080600 COVID-19 severity ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:serum (human) PMID:32427582|REF_RGD_ID:30309200
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:30626685|REF_RGD_ID:30309198
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080998 acute necrotizing pancreatitis severity ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:increased expression:pancreas PMID:18642776|REF_RGD_ID:2307010
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0080998 acute necrotizing pancreatitis treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:19050604|REF_RGD_ID:11062108
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:0081120 Graves ophthalmopathy ISO RGD:731046 D RGD:9068941 20211008 RGD mRNA:increased expression:orbital fat (human) PMID:18284633|REF_RGD_ID:8549459
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:10325 silicosis ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26163174
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:10533 viral pneumonia ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:19617401|REF_RGD_ID:4891451
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1063 interstitial nephritis ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10385480
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:10762 portal hypertension ISO RGD:731046 D RGD:9068941 20211008 RGD associated with biliary atresia; PMID:17161183|REF_RGD_ID:14995924
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension ISO RGD:3645 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA, protein:increased expression:kidney cortex, urine PMID:18459944|REF_RGD_ID:2307029
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:urine PMID:17989143|REF_RGD_ID:2307054
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20667508|PMID:27292124
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension ameliorates ISO RGD:3645 D RGD:9068941 20230831 RGD associated with Cardiac Fibrosis PMID:25715999|REF_RGD_ID:401794570
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:10763 hypertension treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:17922026|REF_RGD_ID:8549771
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:10871 age related macular degeneration ISO RGD:11275 D RGD:9068941 20220825 MouseDO
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:10873 Kuhnt-Junius degeneration severity ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:aqueous humor of eyeball (human) PMID:20937997|REF_RGD_ID:8548855
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:10941 intracranial aneurysm ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:19164781|REF_RGD_ID:2307000
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:10941 intracranial aneurysm ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:increased expression:circle of Willis (rat) PMID:25316629|REF_RGD_ID:11522723
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:10952 nephritis ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Purpura, Schoenlein-Henoch;protein:increased expression:urine (human) PMID:24414608|REF_RGD_ID:11528565
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:serum (human) PMID:25839768|REF_RGD_ID:11528567
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:11123 Henoch-Schoenlein purpura susceptibility ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:snp:promoter:g.-2518C>T (human) PMID:26234573|REF_RGD_ID:11522500
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1115 sarcoma ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:serum (rat) PMID:25667449|REF_RGD_ID:11528521
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:11204 allergic conjunctivitis ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:19553621|REF_RGD_ID:8548840
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:11339 pneumocystosis ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:respiratory system fluid/secretion PMID:20618689|REF_RGD_ID:4891428
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25070658
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:11396 pulmonary edema ISO RGD:3645 D RGD:9068941 20211008 RGD associated with Shock, Septic;protein:increased expression:lung PMID:18555988|REF_RGD_ID:2307014
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:11446 sciatic neuropathy ISO RGD:11275 D RGD:9068941 20211008 RGD protein:increased expression:lumbar dorsal root ganglion (mouse) PMID:22564672|REF_RGD_ID:8549487
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:11446 sciatic neuropathy ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:spinal cord dorsal horn, axon terminal (rat) PMID:19059387|REF_RGD_ID:2307005
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1168 familial hyperlipidemia treatment ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:19525846|REF_RGD_ID:11528561
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:11713 diabetic angiopathy treatment ISO RGD:3645 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Experimental PMID:23154660|REF_RGD_ID:11526153
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:11714 gestational diabetes ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:18702087|REF_RGD_ID:2306986
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21641384
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1205 allergic disease ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15585374|PMID:21625544
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:12053 cryptococcosis ISO RGD:11275 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:lung (mouse) PMID:11714821|REF_RGD_ID:11528563
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:12140 Chagas disease ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:16844401|REF_RGD_ID:2307145
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:12351 alcoholic hepatitis ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:21826694|REF_RGD_ID:14995491
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:12351 alcoholic hepatitis ISO RGD:731046 D RGD:9068941 20211008 RGD RNA:increased expression:liver: PMID:24429361|REF_RGD_ID:14975280
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:12351 alcoholic hepatitis severity ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:10446112|REF_RGD_ID:14995467
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:12554 hemolytic-uremic syndrome ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:plasma (rat) PMID:10201001|REF_RGD_ID:11528527
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:12842 Guillain-Barre syndrome disease_progression ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:plasma (human) PMID:12507779|REF_RGD_ID:8549645
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:12849 autistic disorder ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:plasma (human) PMID:21095018|REF_RGD_ID:8548858
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1287 cardiovascular system disease ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16332659
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1287 cardiovascular system disease ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:15627719|REF_RGD_ID:1581158
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:14967845|REF_RGD_ID:1581155
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:13100 intracranial vasospasm ISO RGD:3645 D RGD:9068941 20211008 RGD associated with Subarachnoid Hemorrhage;mRNA, protein:increased expression:basilar artery PMID:19401162|REF_RGD_ID:2306995
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:13139 crescentic glomerulonephritis ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:8903512|REF_RGD_ID:8549743
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:13139 crescentic glomerulonephritis treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:17314328|REF_RGD_ID:8549770
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:13141 uveitis ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:aqueous humor PMID:16698015|REF_RGD_ID:8549475
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:13141 uveitis ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:aqueous humor (human) PMID:17591667|REF_RGD_ID:8549485
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus;protein:increased expression:vitreous humor (human) PMID:21850157|REF_RGD_ID:8549477
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:13207 proliferative diabetic retinopathy disease_progression ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:g.-2518A>G (human) PMID:23549806|REF_RGD_ID:8548851
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:13241 Behcet's disease ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:plasma (human) PMID:12712358|REF_RGD_ID:8549488
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:19782713|REF_RGD_ID:8548882
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:13375 temporal arteritis ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:15742444|REF_RGD_ID:1581162
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:13413 hepatic encephalopathy ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:brain, liver,serum: PMID:29518527|REF_RGD_ID:14995926
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:13603 obstructive jaundice treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:15573249|REF_RGD_ID:8549649
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1407 anterior uveitis ISO RGD:3645 D RGD:9068941 20211008 RGD associated with Encephalomyelitis, Autoimmune, Experimental;mRNA, protein:increased expression:iris, ciliary body, lumbar spinal cord (rat) PMID:9404715|REF_RGD_ID:8549473
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1407 anterior uveitis ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:polymorphism:promoter:rs1024610 (human) PMID:16950632|REF_RGD_ID:8661673
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1407 anterior uveitis susceptibility ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:16280979|REF_RGD_ID:8548843
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:14115 toxic shock syndrome disease_progression ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:28834779|REF_RGD_ID:14995949
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1474 aggressive periodontitis susceptibility ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:polymorphism,haplotype::2518A>G(human) PMID:21264360|REF_RGD_ID:8661707
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1485 cystic fibrosis ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:respiratory system fluid/secretion PMID:20438838|REF_RGD_ID:4143275
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1532 pleural disease ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10923243
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1564 fungal infectious disease ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:sinus: PMID:22287435|REF_RGD_ID:7483612
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1588 thrombocytopenia ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) PMID:20414371|REF_RGD_ID:11528535
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1749 squamous cell carcinoma ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25199511
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:182 calcinosis ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21193197|PMID:21335463
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1824 status epilepticus ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:17950261|REF_RGD_ID:2307057
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1824 status epilepticus ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19490431|PMID:20034406
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1936 atherosclerosis ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12677255|PMID:12928151|PMID:20720404
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1936 atherosclerosis severity ISO RGD:11275 D RGD:9068941 20211008 RGD mRNA:increased expression:aorta (mouse) PMID:15823270|REF_RGD_ID:7401235
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:1936 atherosclerosis treatment ISO RGD:11275 D RGD:9068941 20231019 RGD PMID:11486244|PMID:23650230|REF_RGD_ID:401842363|REF_RGD_ID:8548896
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2018 hyperinsulinism ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:aorta (rat) PMID:17180354|REF_RGD_ID:8549642
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2018 hyperinsulinism ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2048 autoimmune hepatitis ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21227906
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:219 colon cancer ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:21268133|REF_RGD_ID:5135051
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:224 transient cerebral ischemia ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:increased expression:brain (rat) PMID:7860708|REF_RGD_ID:8549729
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:21487414|REF_RGD_ID:8549519
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2316 brain ischemia ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:19260320|REF_RGD_ID:2306998
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2316 brain ischemia ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15829914|PMID:17394460
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2349 arteriosclerosis ISO RGD:11275 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta PMID:18093596|REF_RGD_ID:2306988
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2355 anemia treatment ISO RGD:11275 D RGD:9068941 20211008 RGD associated with Colonic Neoplasms PMID:24963216|REF_RGD_ID:11528557
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2377 multiple sclerosis ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:SNPs, haplotype PMID:19865101|REF_RGD_ID:4145472
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2518 orchitis ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:testicle, fluid (rat) PMID:14638441|REF_RGD_ID:1358455
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2773 contact dermatitis ISO RGD:11275 D RGD:9068941 20211008 RGD protein:increased expression:serum (mouse) PMID:22679019|REF_RGD_ID:9590167
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:14611812|REF_RGD_ID:2307195
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:11275 D RGD:9068941 20211008 RGD mRNA:increased expression:lung (mouse) PMID:12055264|REF_RGD_ID:11528570
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:lung PMID:17964702|REF_RGD_ID:2307055
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19373627
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:20205697|REF_RGD_ID:4145509
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:haplotype::-2518A>G (human) PMID:23454776|REF_RGD_ID:8551842
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma severity ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:serum PMID:19373627|REF_RGD_ID:4891466
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2841 asthma treatment ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:25441643|REF_RGD_ID:11528569
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:289 endometriosis ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:peritoneal fluid (human) PMID:15005786|REF_RGD_ID:11528566
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2920 membranoproliferative glomerulonephritis treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:10411686|REF_RGD_ID:8549648
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2921 glomerulonephritis ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10385480
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:11275 D RGD:9068941 20211008 RGD mRNA, protein: increased expression, altered expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:11275 D RGD:9068941 20211008 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20484496
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:serum (human) PMID:15602737|REF_RGD_ID:32716399
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:plasma (human) PMID:16195357|REF_RGD_ID:30309218
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:serum (human) PMID:15657466|REF_RGD_ID:30309219
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:32553273|REF_RGD_ID:32716426
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:15781938|REF_RGD_ID:30309220
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16352737|PMID:18940815
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:polymorphism: :-2518A>G (human) PMID:20111728|REF_RGD_ID:4891439
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:kidney PMID:18433541|REF_RGD_ID:2307041
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3071 gliosarcoma severity ISO RGD:11275 D RGD:9068941 20211008 RGD mouse gene in a rat model PMID:7489565|REF_RGD_ID:11526112
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Arthritis, Rheumatoid;protein:increased expression:serum PMID:20056091|REF_RGD_ID:4891442
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Scleroderma, Systemic;protein:increased expression:plasma PMID:20404807|REF_RGD_ID:4142853
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Scleroderma, Systemic;protein:increased expression:respiratory system fluid/secretion PMID:19615053|REF_RGD_ID:4891453
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3082 interstitial lung disease treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:1387671|REF_RGD_ID:8549558
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:plasma PMID:20497022|REF_RGD_ID:4891429
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731046 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:34652871
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:326 ischemia ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:15308783|REF_RGD_ID:1581163
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3312 bipolar disorder ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:15034225|REF_RGD_ID:1358456
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3393 coronary artery disease ISO RGD:731046 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Coronary artery disease, modifier of PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3407 carotid artery disease ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18022660
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12374626|PMID:23043544|PMID:25257527
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3526 cerebral infarction treatment ISO RGD:11275 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3612 retinitis ISO RGD:11275 D RGD:9068941 20211008 RGD protein:increased expression:retina (mouse) PMID:25159208|REF_RGD_ID:11528560
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3770 pulmonary fibrosis ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:20833968|REF_RGD_ID:4145112
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3770 pulmonary fibrosis ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:lung, eosinophil (rat) PMID:7525714|REF_RGD_ID:8549730
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3770 pulmonary fibrosis ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16324872|PMID:17720292|PMID:26163174
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:30418988
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:399 tuberculosis ISO RGD:731046 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:4029 gastritis treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:23892052|REF_RGD_ID:11526150
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:4079 heart valve disease ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21335463
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:409 liver disease ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17125873
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:418 systemic scleroderma ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:respiratory system fluid/secretion PMID:19615053|REF_RGD_ID:4891453
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:418 systemic scleroderma ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:serum PMID:21285114|REF_RGD_ID:5683876
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:418 systemic scleroderma severity ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:21049277|REF_RGD_ID:5135284
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:4195 hyperglycemia ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:14566334|PMID:24142887|REF_RGD_ID:8548856|REF_RGD_ID:8661224
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration ISO RGD:11275 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:retina PMID:24142887|REF_RGD_ID:8661224
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration ISO RGD:1552004 D RGD:9068941 20211008 RGD PMID:17652758|REF_RGD_ID:9491385
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:4448 macular degeneration severity ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:aqueous humor (human) PMID:22172228|REF_RGD_ID:8549496
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:4449 macular retinal edema ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Retinal Vein Occlusion;protein:increased expression:vitreous humor (human) PMID:22066978|REF_RGD_ID:7829760
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:4449 macular retinal edema ISO RGD:731046 D RGD:9068941 20221014 RGD associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human) PMID:35799735|REF_RGD_ID:155582223
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:4449 macular retinal edema severity ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Diabetic Retinopathy;protein:increased expression:vitreous humor PMID:19118698|REF_RGD_ID:2306981
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:21894146|REF_RGD_ID:6218988
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:increased expression:glomerulus PMID:17898087|REF_RGD_ID:2307059
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:20071465|REF_RGD_ID:4145614
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:4989 pancreatitis ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:18297440|PMID:19111613|REF_RGD_ID:2307002|REF_RGD_ID:2307046
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:4989 pancreatitis ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:16284287|REF_RGD_ID:8549548
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:50 thyroid gland disease ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23397585
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:5082 liver cirrhosis ISO RGD:3645 D RGD:9068941 20240125 RGD associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat) PMID:32626927|REF_RGD_ID:401959337
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:5082 liver cirrhosis ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20697377
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:5199 ureteral obstruction ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28318631
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:731046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:14571188
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:5327 retinal detachment ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:17284607|REF_RGD_ID:8548846
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:5327 retinal detachment ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:vitreous humor (human) PMID:19139725|REF_RGD_ID:2316760
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:5419 schizophrenia ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18486454
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:552 pneumonia ISO RGD:11275 D RGD:9068941 20211008 RGD protein:increased expression:respiratory system fluid/secretion PMID:19648283|REF_RGD_ID:4891461
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:552 pneumonia ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21625544
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:557 kidney disease ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:15882261|REF_RGD_ID:2307176
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:5844 myocardial infarction ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:serum PMID:18459941|REF_RGD_ID:2307033
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:5844 myocardial infarction ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:16116069|REF_RGD_ID:1581161
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:5844 myocardial infarction treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:18753699|REF_RGD_ID:8549616
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:6000 congestive heart failure ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:increased expression:heart left ventricle PMID:12950323|REF_RGD_ID:1581156
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:6000 congestive heart failure ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29959987
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:631 fibromyalgia ISO RGD:731046 D RGD:9068941 20211008 RGD protein:decreased expression:plasma PMID:19924498|REF_RGD_ID:14995946
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:6432 pulmonary hypertension ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:bronchoalveolar lavage fluid (rat) PMID:9605182|REF_RGD_ID:8549547
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:6432 pulmonary hypertension ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:lung, plasma PMID:19087668|REF_RGD_ID:2307003
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:6432 pulmonary hypertension ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15302794|PMID:30418988
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731046 D RGD:9068941 20211008 RGD RNA:increased expression:liver PMID:27980102|REF_RGD_ID:14995459
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:27980102|REF_RGD_ID:14995459
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:12679798|PMID:22402625|REF_RGD_ID:14995468|REF_RGD_ID:14995927
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:serum PMID:20056091|REF_RGD_ID:4891442
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:aorta PMID:18482727|REF_RGD_ID:2307015
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:renal proximal tubule (rat) PMID:12080327|REF_RGD_ID:8549739
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19420110|PMID:19539174
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease susceptibility ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-2518A>G (human) PMID:17982227|REF_RGD_ID:2306990
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:783 end stage renal disease treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:18797164|REF_RGD_ID:2307007
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:801 hemarthrosis ISO RGD:11275 D RGD:9068941 20211008 RGD associated with Hemophilia A;protein:increased expression:synovial fluid (mouse) PMID:19444976|REF_RGD_ID:11528538
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:811 lipodystrophy ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:16697654|REF_RGD_ID:1581157
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:820 myocarditis severity ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:serum (human) PMID:11472393|REF_RGD_ID:8549580
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:823 periapical periodontitis ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:24631631|REF_RGD_ID:8661717
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:824 periodontitis ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:gingiva PMID:17876613|REF_RGD_ID:2306992
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:8466 retinal degeneration ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20361964
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:8469 influenza ISO RGD:11275 D RGD:9068941 20211008 RGD associated with Asthma;protein:decreased expression:alveolar system (mouse) PMID:12707338|REF_RGD_ID:4145439
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:3645 D RGD:9068941 20211008 RGD Acute Lung Injury;mRNA:increased expression:lung PMID:17304115|REF_RGD_ID:2307141
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:850 lung disease ISO RGD:3645 D RGD:9068941 20211008 RGD associated with Contusions;protein:increased expression:respiratory system fluid/secretion PMID:19515386|REF_RGD_ID:4891456
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:8566 herpes simplex ISO RGD:11275 D RGD:9068941 20211008 RGD mRNA:increased expression:cornea (mouse) PMID:9544579|REF_RGD_ID:8549472
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:874 bacterial pneumonia ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:20042590|REF_RGD_ID:4891443
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:8778 Crohn's disease ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21829567
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:8923 skin melanoma disease_progression ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:SNP: :2578A>G (human) PMID:17169533|REF_RGD_ID:9491398
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:8947 diabetic retinopathy ISO RGD:3645 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina (rat) PMID:23010641|REF_RGD_ID:8548887
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9000146 Plaque, Atherosclerotic ameliorates ISO RGD:11275 D RGD:9068941 20230831 RGD PMID:28062499|REF_RGD_ID:329955458
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9000226 Periodontal Cyst ISO RGD:731046 D RGD:9068941 20211008 RGD mRNA:increased expression:gingiva: PMID:16101967|REF_RGD_ID:8661719
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:serum: PMID:19247846|REF_RGD_ID:14995923
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:3645 D RGD:9068941 20240125 RGD mRNA, protein:increased expression:liver (rat) PMID:32626927|REF_RGD_ID:401959337
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9000310 Lung Injury ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19762220
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9000641 Pain ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:18419759|REF_RGD_ID:2307043
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9000722 Animal Hepatitis treatment ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:27980102|REF_RGD_ID:14995459
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:19762564|REF_RGD_ID:4891460
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12388339
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:11275 D RGD:9068941 20211008 RGD associated with Mammary Neoplasms, Experimental PMID:19629725|REF_RGD_ID:4891450
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9000998 Brain Injuries ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:brain, neuron PMID:19210118|REF_RGD_ID:2306999
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9000998 Brain Injuries ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21549006
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9000998 Brain Injuries treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:11113322|REF_RGD_ID:9587789
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:20059422|REF_RGD_ID:8661721
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:17389519|REF_RGD_ID:8548832
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001205 Experimental Autoimmune Orchitis ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:testis (rat) PMID:14638441|REF_RGD_ID:1358455
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3645 D RGD:9068941 20211008 RGD L5 spinal nerve;proein:increased expression:rostral ventrolateral medulla (rat) PMID:22466130|REF_RGD_ID:8549494
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001427 Geographic Atrophy ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:aqueous humor of eyeball PMID:24142887|REF_RGD_ID:8661224
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001472 Nasal Polyps ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:sinus: PMID:22287435|REF_RGD_ID:7483612
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001488 Human Influenza ISO RGD:11275 D RGD:9068941 20211008 RGD mRNA:increased expression:lung PMID:20967263|REF_RGD_ID:4891425
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001488 Human Influenza ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23326326
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001553 Spinal Cord Compression ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:liver, serum (rat) PMID:15855648|REF_RGD_ID:11526154
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001553 Spinal Cord Compression ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15135227
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:19144177|REF_RGD_ID:2307001
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15492853
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:28437891|REF_RGD_ID:14995945
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:15492853|REF_RGD_ID:8549576
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001606 Acute Anterior Uveitis severity ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:aqueous humor (human) PMID:9426952|REF_RGD_ID:8549479
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:increased expression:kidney (rat) PMID:10844611|PMID:11135063|REF_RGD_ID:10755562|REF_RGD_ID:8549481
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:24325836|REF_RGD_ID:11526144
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:liver, serum (rat) PMID:9500701|REF_RGD_ID:8549627
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:11275 D RGD:9068941 20230629 RGD PMID:34400126|REF_RGD_ID:329902072
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:27229110|REF_RGD_ID:14995460
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:10630515|REF_RGD_ID:14995929
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3645 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney PMID:19369290|REF_RGD_ID:2306980
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3645 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:kidney PMID:18031723|REF_RGD_ID:2306989
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16374426
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine PMID:19097668|REF_RGD_ID:2306982
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:urine PMID:19409809|REF_RGD_ID:2306979
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:11275 D RGD:9068941 20211008 RGD associated with Diabetes Mellitus, Experimental PMID:17968528|REF_RGD_ID:2306991
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:20737477|REF_RGD_ID:8548848
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:18419759|PMID:22531750|REF_RGD_ID:2307043|REF_RGD_ID:8548845
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:dorsal root ganglion, spinal cord (rat) PMID:21712071|REF_RGD_ID:8548873
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002211 Hyperalgesia ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17881535
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:11275 D RGD:9068941 20211008 RGD associated with Schistosomiasis mansoni PMID:12600821|REF_RGD_ID:4145441
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002287 Respiratory Tract Granuloma treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:9042155|REF_RGD_ID:8549740
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002311 Experimental Autoimmune Myocarditis disease_progression ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:heart, serum (rat) PMID:11472393|REF_RGD_ID:8549580
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002371 Cardiotoxicity ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29959987
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002457 Experimental Arthritis ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:18292571|PMID:18726678|REF_RGD_ID:2307008|REF_RGD_ID:2307052
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002457 Experimental Arthritis ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:synovium PMID:17052673|REF_RGD_ID:2307143
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:24583103|REF_RGD_ID:11526142
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:23032084|REF_RGD_ID:14995948
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:dermis, neutrophil (rat) PMID:8774140|REF_RGD_ID:8549532
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002633 Premature Obstetric Labor ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18606702
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002669 Hypoxia ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:plasma (rat) PMID:20813992|REF_RGD_ID:8549511
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:decreased expression:lymph node PMID:19865101|REF_RGD_ID:4145472
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:increased expression:optic chiasma (rat) PMID:11241588|REF_RGD_ID:8548888
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:increased expression:spinal cord PMID:17666800|REF_RGD_ID:2307114
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002906 Multiple Organ Failure ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:serum, peritoneal fluid (rat) PMID:15793719|REF_RGD_ID:8549633
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11275 D RGD:9068941 20211008 RGD mRNA:increased expression:retina (mouse) PMID:16710171|REF_RGD_ID:8548878
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:19038868|REF_RGD_ID:11526145
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:11275 D RGD:9068941 20211008 RGD mRNA:increased expression:cochlea (mouse) PMID:17081714|REF_RGD_ID:8549464
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:731046 D RGD:9068941 20211008 RGD human gene in mouse model PMID:16224495|REF_RGD_ID:8548881
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:12917249|REF_RGD_ID:11528529
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9003617 Carrington Syndrome ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:alveolar system (human) PMID:11488333|REF_RGD_ID:11528564
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:nasal turbinate, mucosa (human) PMID:9865755|REF_RGD_ID:8548839
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:forebrain (rat) PMID:9270493|REF_RGD_ID:8549543
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9003779 Vasculitis of the Skin susceptibility ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) PMID:11844145|REF_RGD_ID:11528536
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9003871 Venous Thrombosis ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:vein PMID:18167211|REF_RGD_ID:2307053
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9003969 Peri-Implantitis ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:20059422|REF_RGD_ID:8661721
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12468449|PMID:15829914
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:3645 D RGD:9068941 20211008 RGD Gastric Reperfusion Injury PMID:22611311|REF_RGD_ID:8549744
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004017 Chronic Hepatitis C ISO RGD:731046 D RGD:9068941 20211008 RGD RNA:increased expression:liver: PMID:24429361|REF_RGD_ID:14975280
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004059 Eye Neoplasms ISO RGD:11275 D RGD:9068941 20211008 RGD mRNA:increased expression:eye (mouse) PMID:18958307|REF_RGD_ID:8549483
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004283 Transplant Rejection ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:14662900|REF_RGD_ID:8657367
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:731046 D RGD:9068941 20211008 RGD kidney;DNA:snp:promoter:g.-2518A>G (human) PMID:12239249|REF_RGD_ID:8548879
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004484 Sepsis ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:increased expression:ileum PMID:19111613|REF_RGD_ID:2307002
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26037280
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25199511|PMID:32512068
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004590 Acute Liver Failure ISO RGD:731046 D RGD:9068941 20211008 RGD mRNA:increased expression:liver (human) PMID:8283136|REF_RGD_ID:8549567
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004590 Acute Liver Failure ISO RGD:731046 D RGD:9068941 20211008 RGD protein, mRNA:increased expression:serum, liver PMID:12579535|REF_RGD_ID:14995451
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004610 Acute Lung Injury ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:lung PMID:21767135|REF_RGD_ID:6480432
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004912 Hyperoxaluria ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16284884
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004974 Painful Neuropathy ISO RGD:11275 D RGD:9068941 20211008 RGD protein:increased expression:medulla oblongata, dorsal horn of spinal cord (mouse) PMID:22721162|REF_RGD_ID:8548831
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9004974 Painful Neuropathy ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:ipsilateral side, dorsal root ganglion (rat) PMID:15041200|REF_RGD_ID:8548884
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9005036 Bacteremia ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Febrile Neutropenia;protein:increased expression:serum (human) PMID:22584776|REF_RGD_ID:11528568
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9005166 Contusions ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:serum PMID:16832247|REF_RGD_ID:2307147
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9005372 Inflammation ISO RGD:3645 D RGD:9068941 20211008 RGD associated with Hypertension;protein:increased expression:aorta PMID:20921064|REF_RGD_ID:4891427
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9005372 Inflammation ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:14570645|PMID:19762220|PMID:20816778
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:gingiva PMID:17876613|REF_RGD_ID:2306992
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:plasma PMID:18976114|REF_RGD_ID:2306984
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:16891764|REF_RGD_ID:8549535
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:increased expression:iris, ciliary body, popliteal lymph nodes (rat) PMID:15109911|REF_RGD_ID:8549495
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9005930 Endotoxemia ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:plasma PMID:19060786|REF_RGD_ID:2307004
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:15353495|REF_RGD_ID:11526152
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:731046 D RGD:9068941 20211008 RGD PMID:12223446|REF_RGD_ID:8549774
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:11275 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:kidney, lung, serum PMID:20396927|REF_RGD_ID:4891433
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:11275 D RGD:9068941 20230601 RGD PMID:24920753|REF_RGD_ID:329845564
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:18650485|REF_RGD_ID:11526113
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9006559 Granulomatous Vasculitis ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:8231108|REF_RGD_ID:8549573
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9006614 Lower Extremity Deep Vein Thrombosis ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Behcet Syndrome;protein:increased expression:serum (human) PMID:16273763|REF_RGD_ID:8548850
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:731046 D RGD:9068941 20211008 RGD associated with colorectal cancer PMID:27058904|REF_RGD_ID:14995463
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:11275 D RGD:9068941 20211008 RGD mRNA:increased expression:eye: PMID:12605265|REF_RGD_ID:8661671
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16188961|PMID:18486454
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:32512068
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:32512068
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:31557154
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9006939 Lyme Neuroborreliosis ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:serum (human) PMID:16358960|REF_RGD_ID:11528571
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007096 Stroke ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:brain, neuron PMID:18473828|REF_RGD_ID:2307024
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007096 Stroke ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:15308783|REF_RGD_ID:1581163
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:plasma, heart (rat) PMID:10068207|REF_RGD_ID:8549542
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16214533
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25199511
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007364 Mouth Neoplasms no_association ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:polymorphism::2518G>A(human) PMID:21570337|REF_RGD_ID:8661698
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20623750
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:21813474|PMID:30663942|REF_RGD_ID:14995458|REF_RGD_ID:14995466
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007692 Insulin Resistance ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:22983634|REF_RGD_ID:8548844
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007692 Insulin Resistance ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human) PMID:18762729|REF_RGD_ID:2306985
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17380299
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:increased expression:spinal cord (rat) PMID:12098510|REF_RGD_ID:8655962
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:increased expression:small intestine PMID:18475188|REF_RGD_ID:2307016
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:increased expression:heart (rat) PMID:10908159|REF_RGD_ID:8549625
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12087064
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9007988 Granulomatous Interstitial Nephritis ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:kidney, serum (rat) PMID:20231821|REF_RGD_ID:11526149
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:731046 D RGD:9068941 20211008 RGD protein:decreased expression:serum: PMID:26281331|REF_RGD_ID:14995947
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9008313 Febrile Neutropenia ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Hematologic Diseases;protein:increased expression:plasma (human) PMID:23369970|REF_RGD_ID:11528559
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9008414 Pulmonary Contusion ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:alveolar system (rat) PMID:16044083|REF_RGD_ID:11060268
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9008609 Endotoxin-Induced Uveitis treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:18087711|REF_RGD_ID:2298858
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9008881 Coronary Artery Disease, Development of, in HIV ISO RGD:731046 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV PMID:11500196|PMID:15466648|PMID:16352737|PMID:16596675|PMID:18940815
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:11844145|REF_RGD_ID:11528536
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:731046 D RGD:9068941 20211008 RGD DNA:snp:promoter:g.-2518A>G (human) PMID:20414371|REF_RGD_ID:11528535
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20102417
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9119 acute myeloid leukemia ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:plasma (human) PMID:17822317|REF_RGD_ID:11528537
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:25382729|REF_RGD_ID:11528532
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9279 hyperhomocysteinemia ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:kidney (rat) PMID:17977907|REF_RGD_ID:8549578
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:urine PMID:18388116|REF_RGD_ID:2301862
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:25899686|REF_RGD_ID:14995493
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9446 cholangitis treatment ISO RGD:3645 D RGD:9068941 20211008 RGD PMID:17102917|REF_RGD_ID:14995925
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9452 steatotic liver disease ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:22983634|REF_RGD_ID:8548844
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9452 steatotic liver disease ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29684222
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9477 pulmonary embolism ISO RGD:3645 D RGD:9068941 20211008 RGD mRNA:increased expression:heart right ventricle (rat) PMID:16814320|REF_RGD_ID:11528528
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9538 multiple myeloma ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16918137
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9675 pulmonary emphysema disease_progression ISO RGD:731046 D RGD:9068941 20211008 RGD associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:sputum PMID:20966041|REF_RGD_ID:4891458
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731046 D RGD:9068941 20211008 RGD protein:increased expression:serum PMID:19092169|REF_RGD_ID:2306983
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:11275 D RGD:9068941 20211008 RGD mRNA:increased expression:pancreatic islet (mouse) PMID:11317664|REF_RGD_ID:8549575
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9970 obesity ISO RGD:3645 D RGD:9068941 20211008 RGD protein:increased expression:serum PMID:18469848|REF_RGD_ID:2307038
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9970 obesity ISO RGD:731046 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29035695
18344179 CCL2 C-C motif chemokine ligand 2 gene DOID:9970 obesity ISO RGD:731046 D RGD:9068941 20211008 RGD protein, mRNA:increased expression:plasma, fat PMID:17803693|REF_RGD_ID:2306993
18344179 Ccl2 C-C motif chemokine ligand 2 gene DOID:1577 limited scleroderma ISO RGD:11275 D RGD:9068941 20211008 RGD PMID:12925209|REF_RGD_ID:8661733
18344179 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006302 Binge Drinking ISO RGD:3645 D RGD:9068941 20250130 RGD mRNA:increased expression:frontal cortex PMID:23867237|REF_RGD_ID:597538460
18344179 Ccl2 C-C motif chemokine ligand 2 gene DOID:9006302 Binge Drinking ISO RGD:3645 D RGD:9068941 20250201 RGD mRNA:increased expression:basal forebrain cholinergic neurons PMID:37402853|REF_RGD_ID:597538603
18344185 ACKR2 atypical chemokine receptor 2 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1353783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532
18344219 MAPK10 mitogen-activated protein kinase 10 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:733441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly and epileptic encephalopathy PMID:16249883
18344219 MAPK10 mitogen-activated protein kinase 10 gene DOID:10283 prostate cancer ISO RGD:733441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383
18344219 MAPK10 mitogen-activated protein kinase 10 gene DOID:10652 Alzheimer's disease ISO RGD:733441 D RGD:9068941 20211008 RGD protein:increased expression:CA1 field of hippocampus: PMID:11208906|REF_RGD_ID:10412676
18344219 MAPK10 mitogen-activated protein kinase 10 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:733441 D RGD:9068941 20211008 RGD DNA:SNP:intron: (rs2589506) (human)
18344219 MAPK10 mitogen-activated protein kinase 10 gene DOID:6000 congestive heart failure ISO RGD:733441 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497
18344219 MAPK10 mitogen-activated protein kinase 10 gene DOID:9001793 Generalized Epilepsy ISO RGD:733441 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868
18344274 ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315298 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532
18344274 ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532
18344274 ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315298 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532
18344274 ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 gene DOID:543 dystonia ISO RGD:1315298 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:28492532
18344289 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:0081292 traumatic brain injury ISO RGD:69230 D RGD:9068941 20211008 RGD PMID:20713027|REF_RGD_ID:13830881
18344289 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:0110582 autosomal dominant nonsyndromic deafness 58 ISO RGD:1350432 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 58 PMID:36553541
18344289 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:10652 Alzheimer's disease ISO RGD:735592 D RGD:9068941 20211008 RGD PMID:21223993|REF_RGD_ID:13830879
18344289 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1350432 D RGD:9068941 20211008 RGD DNA:SNP: :rs1868402 (human) PMID:23727081|REF_RGD_ID:13830878
18344289 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1350432 D RGD:9068941 20211008 RGD PMID:15012912|REF_RGD_ID:1580709
18344289 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:735592 D RGD:9068941 20220825 MouseDO
18344289 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:5419 schizophrenia ISO RGD:735592 D RGD:9068941 20220825 MouseDO OMIM:181500
18344289 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350432 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18344631
18344289 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350432 D RGD:9068941 20211008 RGD PMID:16688406|REF_RGD_ID:1580706
18344289 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350432 D RGD:9068941 20211008 RGD DNA:insertion/deletion:promoter: PMID:16209992|REF_RGD_ID:1580708
18344289 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:1350432 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16214533
18344289 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:69230 D RGD:9068941 20211008 RGD PMID:16214533|REF_RGD_ID:1580707
18344326 ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18344326 ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif 12 gene DOID:9007096 Stroke susceptibility ISO RGD:1316449 D RGD:9068941 20211008 RGD DNA:SNP::rs1364044(human) PMID:22990015|REF_RGD_ID:9681739
18344369 KCNH7 potassium voltage-gated channel subfamily H member 7 gene DOID:12849 autistic disorder ISO RGD:734396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213
18344405 STAMBPL1 STAM binding protein like 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1603015 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011
18344405 STAMBPL1 STAM binding protein like 1 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1603015 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0050885 IMAGe syndrome ISO RGD:1322980 D RGD:7240710 20200205 OMIM
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0050885 IMAGe syndrome ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies PMID:15769992|PMID:17576681|PMID:22634751|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25057881|PMID:25262539|PMID:25614875|PMID:25741868|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31976094|PMID:33076988|PMID:34098225|PMID:9536098
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0080365 endometrial hyperplasia ISO RGD:1322980 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22064387
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0080600 COVID-19 ISO RGD:1322980 D RGD:9068941 20211008 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0080773 delta beta-thalassemia ISO RGD:1322980 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:10591 pre-eclampsia ISO RGD:1322981 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:1324 lung cancer ISO RGD:727892 D RGD:9068941 20220707 RGD DNA:hypermethylation:promoter (rat) PMID:20512841|REF_RGD_ID:152998913
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:1324 lung cancer disease_progression ISO RGD:727892 D RGD:9068941 20220707 RGD protein:decreased expression:lung (rat) PMID:20512841|REF_RGD_ID:152998913
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:1909 melanoma ISO RGD:1322980 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17145863
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:2018 hyperinsulinism ISO RGD:1322980 D RGD:9068941 20211008 RGD DNA:loss of heterozygosity:pancreatic islet PMID:11723059|REF_RGD_ID:2311334
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:299 adenocarcinoma ISO RGD:1322980 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21552421
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:7240710 20200205 OMIM
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:10323243|PMID:10424811|PMID:11106355|PMID:11414765|PMID:15150778|PMID:17576681|PMID:18395877|PMID:18414213|PMID:19386358|PMID:20503313|PMID:21910219|PMID:22634751|PMID:23197429|PMID:24033266|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25427884|PMID:25741868|PMID:25861374|PMID:26061650|PMID:26077438|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31804259|PMID:31976094|PMID:33076988|PMID:33443097|PMID:34065128|PMID:34098225|PMID:8841187|PMID:9341892|PMID:9536098
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome | ClinVar Annotator: match by term: KCNQ1-related condition PMID:10323243|PMID:10424811|PMID:11106355|PMID:11414765|PMID:15150778|PMID:17576681|PMID:18395877|PMID:18414213|PMID:19386358|PMID:19843502|PMID:20503313|PMID:21910219|PMID:22140035|PMID:22634751|PMID:23197429|PMID:24033266|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25427884|PMID:25741868|PMID:25861374|PMID:26061650|PMID:26077438|PMID:27436784|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31804259|PMID:31976094|PMID:33076988|PMID:33443097|PMID:34065128|PMID:34098225|PMID:34299047|PMID:36315513|PMID:8841187|PMID:9311733|PMID:9341892|PMID:9536098
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:630 genetic disease ISO RGD:1322980 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20503313|PMID:22634751|PMID:24033266|PMID:24098681|PMID:24313804|PMID:25741868|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:34098225|PMID:36315513|PMID:9536098
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:684 hepatocellular carcinoma severity ISO RGD:1322980 D RGD:9068941 20220707 RGD protein:decreased expression:liver (human) PMID:26606000|REF_RGD_ID:11354707
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:727892 D RGD:9068941 20220708 RGD protein:increased expression:liver (rat) PMID:3965145|REF_RGD_ID:152998958
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:727892 D RGD:9068941 20220707 RGD protein:decreased expression:liver (rat) PMID:26606000|REF_RGD_ID:11354707
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:727892 D RGD:9068941 20220708 RGD protein:increased expression:liver (rat) PMID:3965145|REF_RGD_ID:152998958
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:727892 D RGD:9068941 20220707 RGD mRNA:increased expression:liver (rat) PMID:19533683|REF_RGD_ID:2315050
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1322980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9005172 Lung Neoplasms ISO RGD:1322980 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20512841|PMID:21552421
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 PMID:24065356|PMID:24624461|PMID:28492532|PMID:31976094|PMID:33076988
18344428 CDKN1C cyclin dependent kinase inhibitor 1C gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322980 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22064387
18344506 NKAP NFKB activating protein gene DOID:0050437 Danon disease ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532
18344506 NKAP NFKB activating protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
18344506 NKAP NFKB activating protein gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1606506 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:17236139|PMID:17704778|PMID:19238151|PMID:25385192|PMID:28492532
18344506 NKAP NFKB activating protein gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1606506 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:17704778|PMID:19238151|PMID:25385192|PMID:28492532
18344506 NKAP NFKB activating protein gene DOID:0111823 autosomal hemophilia A ISO RGD:1606506 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
18344506 NKAP NFKB activating protein gene DOID:12134 factor VIII deficiency ISO RGD:1606506 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
18344506 NKAP NFKB activating protein gene DOID:12849 autistic disorder ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18344506 NKAP NFKB activating protein gene DOID:630 genetic disease ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31587868
18344506 NKAP NFKB activating protein gene DOID:9001354 DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ISO RGD:1606506 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy PMID:25741868
18344506 NKAP NFKB activating protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606506 D RGD:9068941 20221110 RGD DNA:missense mutations:exon 8-9:multiple (human) PMID:31587868|REF_RGD_ID:155641252
18344506 NKAP NFKB activating protein gene DOID:9007858 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE ISO RGD:1606506 D RGD:7240710 20200722 OMIM
18344506 NKAP NFKB activating protein gene DOID:9007858 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE ISO RGD:1606506 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 2 PMID:25741868|PMID:26358559|PMID:30544257|PMID:31587868
18344506 NKAP NFKB activating protein gene DOID:9008086 Developmental Disabilities ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay
18344516 POU2F2 POU class 2 homeobox 2 gene DOID:0050888 syndromic intellectual disability ISO RGD:1347223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability
18344516 POU2F2 POU class 2 homeobox 2 gene DOID:0061010 craniosynostosis 1 ISO RGD:1347223 D RGD:8554872 20241203 ClinVar ClinVar Annotator: match by term: TWIST1-related craniosynostosis PMID:28492532
18344516 POU2F2 POU class 2 homeobox 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532
18344516 POU2F2 POU class 2 homeobox 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532
18344516 POU2F2 POU class 2 homeobox 2 gene DOID:2340 craniosynostosis ISO RGD:1347223 D RGD:8554872 20241203 ClinVar ClinVar Annotator: match by term: Syndromic craniosynostosis
18344516 POU2F2 POU class 2 homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1347223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18344516 POU2F2 POU class 2 homeobox 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532
18344516 POU2F2 POU class 2 homeobox 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1347223 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29892016
18344516 POU2F2 POU class 2 homeobox 2 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1347223 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29915428
18344516 POU2F2 POU class 2 homeobox 2 gene DOID:9269 maple syrup urine disease ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532
18344561 LRCH3 leucine rich repeats and calponin homology domain containing 3 gene DOID:0111883 Diamond-Blackfan anemia 5 ISO RGD:1314681 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 PMID:18535205|PMID:22262766|PMID:22689679|PMID:25946618|PMID:28492532
18344618 RAB3A RAB3A, member RAS oncogene family gene DOID:9005834 Ependymomas ISO RGD:735498 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26075792
18344618 RAB3A RAB3A, member RAS oncogene family gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:735498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0050469 Costello syndrome ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Costello syndrome | ClinVar Annotator: match by term: FCS syndrome PMID:10716188|PMID:11150980|PMID:12835555|PMID:1362901|PMID:15491620|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16199547|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16474405|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16921267|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19995790|PMID:20112233|PMID:20301680|PMID:20658932|PMID:20660566|PMID:20937837|PMID:20949621|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21779495|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22318994|PMID:22420426|PMID:22488832|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23321623|PMID:23335589|PMID:23412389|PMID:23429430|PMID:23487764|PMID:23548900|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24390138|PMID:24728327|PMID:24803665|PMID:25070542|PMID:25326635|PMID:25346259|PMID:25668678|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26467218|PMID:26580448|PMID:26633542|PMID:2674130|PMID:26806338|PMID:26888048|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27468687|PMID:27589201|PMID:28002430|PMID:28027064|PMID:28139825|PMID:28179458|PMID:28371260|PMID:28390077|PMID:28489335|PMID:28492532|PMID:29493581|PMID:29907801|PMID:2999610|PMID:3004741|PMID:3018526|PMID:30191474|PMID:30732632|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32313153|PMID:32499600|PMID:32732226|PMID:3283542|PMID:33027564|PMID:3304147|PMID:33372952|PMID:34008892|PMID:34618388|PMID:34958143|PMID:3537694|PMID:6092966|PMID:6287572|PMID:6287573|PMID:6288698|PMID:6330729|PMID:7177195|PMID:8605880|PMID:8626650|PMID:8960317|PMID:9536098
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1604547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20301680|PMID:20660566|PMID:20979192|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22683711|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25741868|PMID:25914166|PMID:26467025|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31222966|PMID:31775759|PMID:33372952|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0060581 Noonan syndrome 3 ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:12727991|PMID:1904555|PMID:19855393|PMID:25741868|PMID:31775759|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0080143 congenital fibrosis of the extraocular muscles ISO RGD:1604547 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles PMID:25741868
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25914166|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26916728|PMID:27102959|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10716188|PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20301680|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21779495|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:2674130|PMID:26916728|PMID:27102959|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:3004741|PMID:31222966|PMID:31394527|PMID:31775759|PMID:3283542|PMID:3304147|PMID:33372952|PMID:34008892|PMID:6287572|PMID:6287573|PMID:6288698
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10716188|PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20301680|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21779495|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26580448|PMID:2674130|PMID:26916728|PMID:27102959|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:3004741|PMID:31222966|PMID:31394527|PMID:31775759|PMID:3283542|PMID:3304147|PMID:33372952|PMID:34008892|PMID:6287572|PMID:6287573|PMID:6288698
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0080773 delta beta-thalassemia ISO RGD:1604547 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0111162 epidermal nevus ISO RGD:1604547 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:33027564|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0111162 epidermal nevus ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous | ClinVar Annotator: match by term: Woolly hair nevus PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19855393|PMID:20301680|PMID:20658932|PMID:20660566|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25326635|PMID:25346259|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25914166|PMID:26467025|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:33027564|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0111359 large congenital melanocytic nevus ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus | ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:32165824
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0111359 large congenital melanocytic nevus ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20301680|PMID:20660566|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25326635|PMID:25346259|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25914166|PMID:26467025|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19669404|PMID:20301680|PMID:20660566|PMID:20937837|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:23093928|PMID:23096712|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25326635|PMID:25346259|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25914166|PMID:26467025|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0111854 primary ciliary dyskinesia 39 ISO RGD:1604547 D RGD:7240710 20200205 OMIM
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0111854 primary ciliary dyskinesia 39 ISO RGD:1604547 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 | ClinVar Annotator: match by term: LRRC56-related condition PMID:25741868|PMID:28492532|PMID:30388400
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0111854 primary ciliary dyskinesia 39 ISO RGD:1604547 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 | ClinVar Annotator: match by term: LRRC56-related condition PMID:17576681|PMID:25741868|PMID:28492532|PMID:30388400|PMID:9536098
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0111969 immunodeficiency 39 ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:1059 intellectual disability ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:11054 urinary bladder cancer ISO RGD:1604547 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Urinary bladder cancer PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20301680|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31222966|PMID:31394527|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:11054 urinary bladder cancer ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19669404|PMID:20301680|PMID:20660566|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:23093928|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25326635|PMID:25346259|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25914166|PMID:26467025|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31222966|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:1107 esophageal carcinoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:1909 melanoma ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:1909 melanoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:2394 ovarian cancer ISO RGD:1604547 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3247 rhabdomyosarcoma ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20301680|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25741868|PMID:25914166|PMID:26467025|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31222966|PMID:31775759|PMID:33372952|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3490 Noonan syndrome ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19669404|PMID:20301680|PMID:20660566|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22683711|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26580448|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31222966|PMID:31775759|PMID:33372952|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20250114 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:16372351|PMID:24033266|PMID:25741868|PMID:28492532
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10716188|PMID:21779495|PMID:24033266|PMID:25741868|PMID:2674130|PMID:28492532|PMID:29493581|PMID:3004741|PMID:3283542|PMID:3304147|PMID:6287572|PMID:6287573|PMID:6288698
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:3962 follicular thyroid carcinoma ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: THYROID CARCINOMA, FOLLICULAR PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19669404|PMID:20301680|PMID:20660566|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25326635|PMID:25346259|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25914166|PMID:26467025|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31222966|PMID:31775759|PMID:33372952|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:4465 papillary renal cell carcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20250114 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:19855393|PMID:20301680|PMID:20658932|PMID:20660566|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23096712|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26916728|PMID:27102959|PMID:27283355|PMID:27444071|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1604547 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:21910219|PMID:25427884|PMID:28492532
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:5834 spermatocytoma ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Spermatocytic seminoma PMID:12727991|PMID:19855393|PMID:25741868|PMID:31775759
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:630 genetic disease ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16170316|PMID:16372351|PMID:16443854|PMID:16835863|PMID:17601930|PMID:17979197|PMID:18042262|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22317973|PMID:22420426|PMID:23093928|PMID:23751039|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25741868|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28492532
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:6420 pulmonary valve stenosis ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:28492532
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:684 hepatocellular carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:684 hepatocellular carcinoma ISO RGD:1604547 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:684 hepatocellular carcinoma ISO RGD:1604547 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20301680|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:7608 parathyroid adenoma ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma PMID:25741868|PMID:35738466
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:25741868|PMID:35738466
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19669404|PMID:20301680|PMID:20660566|PMID:20937837|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:23093928|PMID:23096712|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25326635|PMID:25346259|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25914166|PMID:26467025|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9003191 Vascular Malformations ISO RGD:1604547 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Vascular malformation PMID:25741868
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Salivary gland neoplasm PMID:24006476|PMID:25695684|PMID:25741868
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1604547 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9005120 Pigmented Nevus ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: PIGMENTED MOLES PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19669404|PMID:20301680|PMID:20660566|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25326635|PMID:25346259|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25914166|PMID:26467025|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31222966|PMID:31775759|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9005820 Congenital Myopathy with Excess of Muscle Spindles ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with excess of muscle spindles PMID:11150980|PMID:1362901|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20301680|PMID:20660566|PMID:20979192|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25070542|PMID:25668678|PMID:25741868|PMID:25914166|PMID:26001911|PMID:26467025|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31222966|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8626650|PMID:8960317
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:11150980|PMID:12727991|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19669404|PMID:19855393|PMID:20301680|PMID:20660566|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25326635|PMID:25346259|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25914166|PMID:26467025|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31222966|PMID:31775759|PMID:33372952|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532|PMID:9536098
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9008386 Hydrops Fetalis ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:12835555|PMID:16170316|PMID:16329078|PMID:16443854|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18642361|PMID:20301680|PMID:20658932|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25741868|PMID:26916728|PMID:27102959|PMID:27444071|PMID:28371260|PMID:28492532|PMID:30191474|PMID:31222966|PMID:31775759|PMID:33027564
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9008939 Breast Neoplasms ISO RGD:1604547 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:1604547 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19669404|PMID:20301680|PMID:20660566|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:23093928|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25326635|PMID:25346259|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25914166|PMID:26467025|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31222966|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20301680|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
18344643 LRRC56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20301680|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
18344676 ETV6 ETS variant transcription factor 6 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345405 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:35053500
18344676 ETV6 ETS variant transcription factor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345405 D RGD:9068941 20211008 RGD PMID:12203785|REF_RGD_ID:1581019
18344676 ETV6 ETS variant transcription factor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345405 D RGD:9068941 20211008 RGD DNA:deletion: : PMID:9171997|REF_RGD_ID:10450601
18344676 ETV6 ETS variant transcription factor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345405 D RGD:9068941 20211008 RGD DNA:translocation: : PMID:18476590|REF_RGD_ID:10450605
18344676 ETV6 ETS variant transcription factor 6 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1345405 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 PMID:25741868
18344676 ETV6 ETS variant transcription factor 6 gene DOID:0070004 myeloid neoplasm ISO RGD:1345405 D RGD:9068941 20211008 RGD DNA:translocation: : PMID:9044825|REF_RGD_ID:10450608
18344676 ETV6 ETS variant transcription factor 6 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1345405 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532
18344676 ETV6 ETS variant transcription factor 6 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1345405 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15217836|PMID:24413735|PMID:25807284
18344676 ETV6 ETS variant transcription factor 6 gene DOID:1037 lymphoid leukemia ISO RGD:1345405 D RGD:9068941 20211008 RGD DNA:translocation: : PMID:9539781|REF_RGD_ID:10450724
18344676 ETV6 ETS variant transcription factor 6 gene DOID:1240 leukemia ISO RGD:1345405 D RGD:9068941 20211008 RGD DNA:translocation: : PMID:9326218|REF_RGD_ID:10450609
18344676 ETV6 ETS variant transcription factor 6 gene DOID:14749 methylmalonic acidemia ISO RGD:1345405 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27895058|PMID:28492532|PMID:31064749|PMID:9694803
18344676 ETV6 ETS variant transcription factor 6 gene DOID:1588 thrombocytopenia ISO RGD:1345405 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27895058|PMID:28492532|PMID:31064749|PMID:32581362|PMID:32693409|PMID:35586967|PMID:9694803
18344676 ETV6 ETS variant transcription factor 6 gene DOID:2213 hemorrhagic disease ISO RGD:1345405 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868
18344676 ETV6 ETS variant transcription factor 6 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1345405 D RGD:9068941 20211008 RGD DNA:translocation: : PMID:12181402|REF_RGD_ID:10450606
18344676 ETV6 ETS variant transcription factor 6 gene DOID:2531 hematologic cancer ISO RGD:1345405 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hematologic cancer PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27895058|PMID:28492532|PMID:31064749|PMID:9694803
18344676 ETV6 ETS variant transcription factor 6 gene DOID:303 substance-related disorder ISO RGD:1345405 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20098672
18344676 ETV6 ETS variant transcription factor 6 gene DOID:630 genetic disease ISO RGD:1345405 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:25807284|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27895058|PMID:28492532|PMID:31064749|PMID:9694803
18344676 ETV6 ETS variant transcription factor 6 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345405 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19565504
18344676 ETV6 ETS variant transcription factor 6 gene DOID:9001067 Familial Macrocytosis ISO RGD:1345405 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25807284
18344676 ETV6 ETS variant transcription factor 6 gene DOID:9005805 Thrombocytopenia 5 ISO RGD:1345405 D RGD:7240710 20200205 OMIM
18344676 ETV6 ETS variant transcription factor 6 gene DOID:9005805 Thrombocytopenia 5 ISO RGD:1345405 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 5 PMID:15806161|PMID:17576681|PMID:17988997|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:25807284|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27666367|PMID:27895058|PMID:28492532|PMID:29365323|PMID:29758562|PMID:31064749|PMID:31248877|PMID:31704777|PMID:32693409|PMID:33179473|PMID:33226740|PMID:33768492|PMID:34355501|PMID:35586967|PMID:9536098|PMID:9694803
18344676 ETV6 ETS variant transcription factor 6 gene DOID:9006532 Hematologic Neoplasms ISO RGD:1345405 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:25807284|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27666367|PMID:27895058|PMID:28492532|PMID:31064749|PMID:31248877|PMID:31704777|PMID:32693409|PMID:33226740|PMID:33768492|PMID:9694803
18344676 ETV6 ETS variant transcription factor 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1345405 D RGD:7240710 20200205 OMIM
18344676 ETV6 ETS variant transcription factor 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1345405 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: ETV6-related condition PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:25807284|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27666367|PMID:27895058|PMID:28492532|PMID:29365323|PMID:31064749|PMID:31248877|PMID:31704777|PMID:32693409|PMID:33226740|PMID:33533142|PMID:33768492|PMID:9694803
18344676 ETV6 ETS variant transcription factor 6 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345405 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia PMID:26102509
18344695 PCARE photoreceptor cilium actin regulator gene DOID:0050572 cone-rod dystrophy ISO RGD:2298744 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration PMID:20398886|PMID:24339724|PMID:25741868|PMID:26496393|PMID:28492532|PMID:28763557
18344695 PCARE photoreceptor cilium actin regulator gene DOID:0050817 Stargardt disease ISO RGD:2298744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:20398884|PMID:20398886|PMID:24339724|PMID:26496393|PMID:28492532|PMID:32312818|PMID:4543597
18344695 PCARE photoreceptor cilium actin regulator gene DOID:0110364 retinitis pigmentosa 54 ISO RGD:2298744 D RGD:7240710 20200205 OMIM
18344695 PCARE photoreceptor cilium actin regulator gene DOID:0110364 retinitis pigmentosa 54 ISO RGD:2298744 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 23 | ClinVar Annotator: match by term: PCARE-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 54 PMID:20398884|PMID:20398886|PMID:20811058|PMID:21412943|PMID:23591405|PMID:24339724|PMID:25741868|PMID:26496393|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:31725702|PMID:31819343|PMID:31872526|PMID:31964843|PMID:32312818|PMID:32531858|PMID:32581362|PMID:33546218|PMID:33576794|PMID:34315337|PMID:34426522|PMID:34440443|PMID:34906470|PMID:34964967|PMID:35836572|PMID:36460718|PMID:36819107|PMID:4543597
18344695 PCARE photoreceptor cilium actin regulator gene DOID:10584 retinitis pigmentosa ISO RGD:2298744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20398884|PMID:20398886|PMID:20811058|PMID:21412943|PMID:23105016|PMID:24339724|PMID:24780881|PMID:25741868|PMID:26306921|PMID:26496393|PMID:26497376|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:30054919|PMID:30718709|PMID:31725702|PMID:33546218
18344695 PCARE photoreceptor cilium actin regulator gene DOID:10584 retinitis pigmentosa ISO RGD:2298744 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 PMID:20398884|PMID:20398886|PMID:20811058|PMID:21412943|PMID:23105016|PMID:24339724|PMID:24780881|PMID:25741868|PMID:26306921|PMID:26496393|PMID:26497376|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:30054919|PMID:30718709|PMID:31456290|PMID:31725702|PMID:3196484|PMID:31964843|PMID:32531858|PMID:32581362|PMID:33546218|PMID:34426522|PMID:34906470|PMID:35836572|PMID:36460718|PMID:36819107
18344695 PCARE photoreceptor cilium actin regulator gene DOID:5723 optic atrophy ISO RGD:2298744 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532
18344695 PCARE photoreceptor cilium actin regulator gene DOID:630 genetic disease ISO RGD:2298744 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21412943|PMID:25741868|PMID:28492532
18344695 PCARE photoreceptor cilium actin regulator gene DOID:8501 fundus dystrophy ISO RGD:2298744 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20398884|PMID:20398886|PMID:20811058|PMID:21412943|PMID:23105016|PMID:23591405|PMID:24339724|PMID:24938718|PMID:25741868|PMID:26496393|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:312135|PMID:31213501|PMID:31456290|PMID:3196484|PMID:31964843|PMID:32483926|PMID:32531858|PMID:32581362|PMID:33546218|PMID:33576794|PMID:34315337|PMID:34426522|PMID:34440443|PMID:34906470|PMID:34964967|PMID:35836572|PMID:36460718|PMID:36819107
18344695 PCARE photoreceptor cilium actin regulator gene DOID:9009095 Neuroblastoma 3 ISO RGD:2298744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532
18344709 USO1 USO1 vesicle transport factor gene DOID:37 skin disease ISO RGD:733099 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16835338
18344709 USO1 USO1 vesicle transport factor gene DOID:891 progressive myoclonus epilepsy ISO RGD:733099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532
18344709 USO1 USO1 vesicle transport factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:733099 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17013881
18344709 USO1 USO1 vesicle transport factor gene DOID:9007964 Arsenic Poisoning ISO RGD:733099 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16835338
18344748 NPTN neuroplastin gene DOID:0110225 Brugada syndrome 8 ISO RGD:733531 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532
18344748 NPTN neuroplastin gene DOID:10763 hypertension ISO RGD:733531 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22228705
18344748 NPTN neuroplastin gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532
18344748 NPTN neuroplastin gene DOID:2717 Bloom syndrome ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
18344748 NPTN neuroplastin gene DOID:3320 Tay-Sachs disease ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625
18344748 NPTN neuroplastin gene DOID:5419 schizophrenia ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18344748 NPTN neuroplastin gene DOID:9007102 Myocardial Ischemia ISO RGD:733531 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16214533
18344748 NPTN neuroplastin gene DOID:9008582 Developmental Disease ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868
18344748 NPTN neuroplastin gene DOID:9256 colorectal cancer ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
18344822 PEX14 peroxisomal biogenesis factor 14 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532
18344822 PEX14 peroxisomal biogenesis factor 14 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68470 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome
18344822 PEX14 peroxisomal biogenesis factor 14 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:68470 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15146459|PMID:18285423|PMID:20647552
18344822 PEX14 peroxisomal biogenesis factor 14 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger)
18344822 PEX14 peroxisomal biogenesis factor 14 gene DOID:0080487 peroxisome biogenesis disorder 13A ISO RGD:68470 D RGD:7240710 20200205 OMIM
18344822 PEX14 peroxisomal biogenesis factor 14 gene DOID:0080487 peroxisome biogenesis disorder 13A ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PEX14-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 13A (Zellweger) PMID:15146459|PMID:18285423|PMID:25741868|PMID:28492532
18344822 PEX14 peroxisomal biogenesis factor 14 gene DOID:0111936 immunodeficiency 14 ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532
18344822 PEX14 peroxisomal biogenesis factor 14 gene DOID:5119 ovarian cyst ISO RGD:68470 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21239663
18344822 PEX14 peroxisomal biogenesis factor 14 gene DOID:630 genetic disease ISO RGD:68470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18344822 PEX14 peroxisomal biogenesis factor 14 gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:68470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:15146459|PMID:16199547|PMID:17576681|PMID:18285423|PMID:25640679|PMID:25741868|PMID:26627464|PMID:28492532|PMID:33547378|PMID:9536098
18344822 PEX14 peroxisomal biogenesis factor 14 gene DOID:905 Zellweger syndrome ISO RGD:68470 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15146459|PMID:18285423
18344838 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:0061010 craniosynostosis 1 ISO RGD:1316600 D RGD:8554872 20241203 ClinVar ClinVar Annotator: match by term: TWIST1-related craniosynostosis PMID:28492532
18344838 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:10652 Alzheimer's disease ISO RGD:1316600 D RGD:9068941 20211008 RGD protein:increased expression:cerebral cortex (human) PMID:24023061|REF_RGD_ID:10448959
18344838 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532
18344838 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532
18344838 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:65 connective tissue disease ISO RGD:1316600 D RGD:9068941 20211008 RGD PMID:2968364|REF_RGD_ID:10448928
18344838 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532
18344838 SNRPA small nuclear ribonucleoprotein polypeptide A gene DOID:9269 maple syrup urine disease ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532
18344862 CD163L1 CD163 molecule like 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532
18344862 CD163L1 CD163 molecule like 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1603525 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
18344862 CD163L1 CD163 molecule like 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532
18344862 CD163L1 CD163 molecule like 1 gene DOID:0080600 COVID-19 ISO RGD:1603525 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18344862 CD163L1 CD163 molecule like 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603525 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896
18344862 CD163L1 CD163 molecule like 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532
18344862 CD163L1 CD163 molecule like 1 gene DOID:1909 melanoma ISO RGD:1603525 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22842228
18344862 CD163L1 CD163 molecule like 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098
18344891 PADI3 peptidyl arginine deiminase 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732756 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome
18344891 PADI3 peptidyl arginine deiminase 3 gene DOID:630 genetic disease ISO RGD:732756 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
18344891 PADI3 peptidyl arginine deiminase 3 gene DOID:9000619 Uncombable Hair Syndrome 1 ISO RGD:732756 D RGD:7240710 20220601 OMIM
18344891 PADI3 peptidyl arginine deiminase 3 gene DOID:9000619 Uncombable Hair Syndrome 1 ISO RGD:732756 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: PADI3-related condition | ClinVar Annotator: match by term: Uncombable hair syndrome 1 PMID:22381266|PMID:24629392|PMID:25741868|PMID:27866708|PMID:28492532|PMID:35279260
18344891 PADI3 peptidyl arginine deiminase 3 gene DOID:9005997 Uncombable Hair Syndrome ISO RGD:732756 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism
18344891 PADI3 peptidyl arginine deiminase 3 gene DOID:9007442 Central Centrifugal Cicatricial Alopecia ISO RGD:732756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia PMID:30763140
18344911 MB21D2 Mab-21 domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1601820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18344933 KDM4C lysine demethylase 4C gene DOID:0050902 medulloblastoma ISO RGD:1316776 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19270706
18344933 KDM4C lysine demethylase 4C gene DOID:0050902 medulloblastoma ISO RGD:1316776 D RGD:9068941 20211008 RGD mRNA:increased expression:brain (human) PMID:19270706|REF_RGD_ID:9587481
18344933 KDM4C lysine demethylase 4C gene DOID:0060001 withdrawal disorder susceptibility ISO RGD:1316776 D RGD:9068941 20211008 RGD DNA:snps:multiple (human) PMID:22072270|REF_RGD_ID:9587485
18344933 KDM4C lysine demethylase 4C gene DOID:0060221 Maffucci syndrome ISO RGD:1316776 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:25741868
18344933 KDM4C lysine demethylase 4C gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1316776 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868
18344933 KDM4C lysine demethylase 4C gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1316776 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29438700
18344933 KDM4C lysine demethylase 4C gene DOID:10283 prostate cancer severity ISO RGD:1316776 D RGD:9068941 20211008 RGD mRNA:increased expression:prostate gland (human) PMID:20127736|REF_RGD_ID:9587486
18344933 KDM4C lysine demethylase 4C gene DOID:11934 head and neck cancer susceptibility ISO RGD:1316776 D RGD:9068941 20211008 RGD DNA:snps:cds, intron:p.N396D (rs2296067), IVS10G>T (rs818912) (human) PMID:19339270|REF_RGD_ID:9587748
18344933 KDM4C lysine demethylase 4C gene DOID:12849 autistic disorder ISO RGD:1316776 D RGD:9068941 20211008 RGD DNA:snp:intron:IVS8-3292G>A (rs1340513) (human) PMID:20410850|REF_RGD_ID:9587484
18344933 KDM4C lysine demethylase 4C gene DOID:1612 breast cancer severity ISO RGD:1316776 D RGD:9068941 20211008 RGD DNA:snp:cds:p.D396N (rs2296067) (human) PMID:24952432|REF_RGD_ID:9587745
18344933 KDM4C lysine demethylase 4C gene DOID:1909 melanoma ISO RGD:1316776 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29438700
18344933 KDM4C lysine demethylase 4C gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1316776 D RGD:9068941 20211008 RGD protein:increased expression:esophageal epithelium, nucleus (human) PMID:24224128|REF_RGD_ID:9587746
18344933 KDM4C lysine demethylase 4C gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1316776 D RGD:9068941 20211008 RGD DNA:snp:intron:IVS8-3292G>A (rs1340513) (human) PMID:15805246|REF_RGD_ID:9587752
18344933 KDM4C lysine demethylase 4C gene DOID:4450 renal cell carcinoma ISO RGD:1316776 D RGD:9068941 20211008 RGD DNA:deletion:cds (human) PMID:22483639|REF_RGD_ID:9587741
18344933 KDM4C lysine demethylase 4C gene DOID:4624 Ollier disease ISO RGD:1316776 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis | ClinVar Annotator: match by term: Kast Syndrome PMID:25741868
18344933 KDM4C lysine demethylase 4C gene DOID:5517 stomach carcinoma severity ISO RGD:1316776 D RGD:9068941 20211008 RGD protein:increased expression:stomach (human) PMID:24418035|REF_RGD_ID:9588260
18344933 KDM4C lysine demethylase 4C gene DOID:9004118 Experimental Melanoma ISO RGD:1316776 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29438700
18344933 KDM4C lysine demethylase 4C gene DOID:9008939 Breast Neoplasms ISO RGD:1316776 D RGD:9068941 20211008 RGD human gene in a mouse model PMID:23129632|REF_RGD_ID:9587482
18344933 KDM4C lysine demethylase 4C gene DOID:9008939 Breast Neoplasms severity ISO RGD:1316776 D RGD:9068941 20211008 RGD mRNA:increased expression:breast (human) PMID:19784073|REF_RGD_ID:9587479
18344933 KDM4C lysine demethylase 4C gene DOID:9268 glycine encephalopathy ISO RGD:1316776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532
18344933 KDM4C lysine demethylase 4C gene DOID:986 alopecia areata ISO RGD:1316776 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460
18344977 PLBD1 phospholipase B domain containing 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605619 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532
18344977 PLBD1 phospholipase B domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1605619 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18344977 PLBD1 phospholipase B domain containing 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605619 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15496427
18345020 ZNF711 zinc finger protein 711 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1347410 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25741868
18345020 ZNF711 zinc finger protein 711 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
18345020 ZNF711 zinc finger protein 711 gene DOID:0080859 primary ovarian insufficiency 2B ISO RGD:1347410 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 2B PMID:25741868
18345020 ZNF711 zinc finger protein 711 gene DOID:0111823 autosomal hemophilia A ISO RGD:1347410 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
18345020 ZNF711 zinc finger protein 711 gene DOID:0112046 non-syndromic X-linked intellectual disability 97 ISO RGD:1347410 D RGD:7240710 20200205 OMIM
18345020 ZNF711 zinc finger protein 711 gene DOID:0112046 non-syndromic X-linked intellectual disability 97 ISO RGD:1347410 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 PMID:10398247|PMID:19377476|PMID:25741868|PMID:27993705|PMID:28454995|PMID:28492532
18345020 ZNF711 zinc finger protein 711 gene DOID:1059 intellectual disability ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:10398247|PMID:25741868|PMID:27993705
18345020 ZNF711 zinc finger protein 711 gene DOID:12134 factor VIII deficiency ISO RGD:1347410 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
18345020 ZNF711 zinc finger protein 711 gene DOID:12849 autistic disorder ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18345020 ZNF711 zinc finger protein 711 gene DOID:630 genetic disease ISO RGD:1347410 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18345020 ZNF711 zinc finger protein 711 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1347410 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19377476
18345020 ZNF711 zinc finger protein 711 gene DOID:9970 obesity ISO RGD:1347410 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Monogenic Obesity PMID:25741868
18345058 RABAC1 Rab acceptor 1 gene DOID:0061010 craniosynostosis 1 ISO RGD:736141 D RGD:8554872 20241203 ClinVar ClinVar Annotator: match by term: TWIST1-related craniosynostosis PMID:28492532
18345058 RABAC1 Rab acceptor 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532
18345058 RABAC1 Rab acceptor 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532
18345058 RABAC1 Rab acceptor 1 gene DOID:2340 craniosynostosis ISO RGD:736141 D RGD:8554872 20241203 ClinVar ClinVar Annotator: match by term: Syndromic craniosynostosis
18345058 RABAC1 Rab acceptor 1 gene DOID:5419 schizophrenia ISO RGD:736141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18345058 RABAC1 Rab acceptor 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532
18345058 RABAC1 Rab acceptor 1 gene DOID:9269 maple syrup urine disease ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532
18345067 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
18345067 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
18345067 SEMA4A semaphorin 4A gene DOID:0110357 retinitis pigmentosa 35 ISO RGD:1312188 D RGD:7240710 20200205 OMIM
18345067 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
18345067 SEMA4A semaphorin 4A gene DOID:0111017 cone-rod dystrophy 10 ISO RGD:1312188 D RGD:7240710 20200205 OMIM
18345067 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
18345067 SEMA4A semaphorin 4A gene DOID:0111228 Sveinsson chorioretinal atrophy ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Helicoid peripapillary chorioretinal degeneration PMID:25741868
18345067 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
18345067 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
18345067 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
18345067 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
18345067 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
18345067 SEMA4A semaphorin 4A gene DOID:1540 parathyroid carcinoma ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18345067 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
18345067 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
18345067 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
18345067 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
18345067 SEMA4A semaphorin 4A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1312188 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:33290778
18345067 SEMA4A semaphorin 4A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18345067 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
18345098 TRHDE thyrotropin releasing hormone degrading enzyme gene DOID:2843 long QT syndrome ISO RGD:730936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555
18345149 CTAGE1 cutaneous T cell lymphoma-associated antigen 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1349885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532
18345149 CTAGE1 cutaneous T cell lymphoma-associated antigen 1 gene DOID:1059 intellectual disability ISO RGD:1349885 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability
18345161 FRMD5 FERM domain containing 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1557005 D RGD:9068941 20240328 MouseDO
18345161 FRMD5 FERM domain containing 5 gene DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia ISO RGD:1605911 D RGD:7240710 20221102 OMIM
18345161 FRMD5 FERM domain containing 5 gene DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia ISO RGD:1605911 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with eye movement abnormalities and ataxia PMID:25741868|PMID:36206744
18345161 FRMD5 FERM domain containing 5 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1605911 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868
18345161 FRMD5 FERM domain containing 5 gene DOID:2717 Bloom syndrome ISO RGD:1605911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
18345161 FRMD5 FERM domain containing 5 gene DOID:630 genetic disease ISO RGD:1605911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
18345161 FRMD5 FERM domain containing 5 gene DOID:9256 colorectal cancer ISO RGD:1605911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
18345209 DCST1 DC-STAMP domain containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577
18345209 DCST1 DC-STAMP domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602181 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
18345209 DCST1 DC-STAMP domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532
18345209 DCST1 DC-STAMP domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532
18345209 DCST1 DC-STAMP domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18345209 DCST1 DC-STAMP domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532
18345209 DCST1 DC-STAMP domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18345234 F11 coagulation factor XI gene DOID:0060903 thrombosis ISO RGD:1319673 D RGD:9068941 20211008 RGD DNA:SNPs:intron: rs2289252,rs2036914(human) PMID:22633531|REF_RGD_ID:11041774
18345234 F11 coagulation factor XI gene DOID:0060903 thrombosis susceptibility ISO RGD:1319673 D RGD:9068941 20211008 RGD DNA:SNPs:intron: rs2289252,rs2036914(human) PMID:19583818|REF_RGD_ID:11041778
18345234 F11 coagulation factor XI gene DOID:10763 hypertension ISO RGD:1319673 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:6383834
18345234 F11 coagulation factor XI gene DOID:12849 autistic disorder ISO RGD:1319673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18345234 F11 coagulation factor XI gene DOID:1588 thrombocytopenia ISO RGD:1319673 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10593931|PMID:15026311|PMID:15140127|PMID:16835901|PMID:18446632|PMID:2052060|PMID:23332144|PMID:23929304|PMID:24033266|PMID:25741868|PMID:27710856|PMID:2813350|PMID:28492532|PMID:29138690|PMID:29178608|PMID:31064749|PMID:32118380|PMID:32166871|PMID:32935436|PMID:9326232
18345234 F11 coagulation factor XI gene DOID:2213 hemorrhagic disease ISO RGD:1319673 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10593931|PMID:11122101|PMID:15026311|PMID:15140127|PMID:15531455|PMID:16079124|PMID:16519703|PMID:16835901|PMID:18446632|PMID:18515884|PMID:20015217|PMID:2052060|PMID:21668437|PMID:23332144|PMID:23929304|PMID:24033266|PMID:24982842|PMID:25681615|PMID:25741868|PMID:27710856|PMID:27723456|PMID:2813350|PMID:28492532|PMID:29138690|PMID:29178608|PMID:31064749|PMID:32118380|PMID:32166871|PMID:32935436|PMID:9326232
18345234 F11 coagulation factor XI gene DOID:2222 factor X deficiency ISO RGD:1319673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital factor X deficiency PMID:25741868|PMID:31064749
18345234 F11 coagulation factor XI gene DOID:2229 factor XI deficiency ISO RGD:1319673 D RGD:7240710 20200205 OMIM
18345234 F11 coagulation factor XI gene DOID:2229 factor XI deficiency ISO RGD:1319673 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: F11-related condition | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar Annotator: match by term: Plasma factor XI deficiency PMID:10444286|PMID:10593931|PMID:10606881|PMID:10630991|PMID:10706758|PMID:11122101|PMID:11127865|PMID:11418471|PMID:11895778|PMID:12586617|PMID:12716376|PMID:12879434|PMID:14508802|PMID:14717969|PMID:15026311|PMID:15090552|PMID:15140127|PMID:15140147|PMID:15180874|PMID:15456490|PMID:1547342|PMID:15531455|PMID:15613027|PMID:15634276|PMID:15728123|PMID:15749683|PMID:15842381|PMID:15870541|PMID:15946525|PMID:15953011|PMID:15968392|PMID:16079124|PMID:16086308|PMID:16199547|PMID:16519703|PMID:16607084|PMID:16787881|PMID:16835901|PMID:17229051|PMID:17549289|PMID:17576681|PMID:18005151|PMID:18024374|PMID:18327400|PMID:18388506|PMID:18446632|PMID:18515884|PMID:18758779|PMID:18832909|PMID:18839438|PMID:19367158|PMID:19630565|PMID:19652879|PMID:20015217|PMID:20398070|PMID:2052060|PMID:20523169|PMID:21192253|PMID:21457405|PMID:21649796|PMID:21668437|PMID:21718436|PMID:21824284|PMID:22016685|PMID:22159456|PMID:22197449|PMID:23305485|PMID:23315997|PMID:23332144|PMID:23571684|PMID:23929304|PMID:24033266|PMID:24112640|PMID:24982842|PMID:25074526|PMID:25158988|PMID:25681615|PMID:25741868|PMID:25741869|PMID:26558335|PMID:26879396|PMID:27067486|PMID:27710856|PMID:27723456|PMID:2813350|PMID:28445521|PMID:28492532|PMID:28615222|PMID:28960694|PMID:29138690|PMID:29178608|PMID:29367083|PMID:30261521|PMID:31028937|PMID:31064749|PMID:31644447|PMID:31790498|PMID:31982874|PMID:32118380|PMID:32166871|PMID:32220196|PMID:32333264|PMID:32464451|PMID:32581362|PMID:32596782|PMID:32935436|PMID:33298665|PMID:33477601|PMID:33560085|PMID:33751533|PMID:34355501|PMID:34426522|PMID:34597376|PMID:34776502|PMID:34799507|PMID:35059554|PMID:35627175|PMID:35685318|PMID:36050548|PMID:36195107|PMID:36543159|PMID:37252892|PMID:37647632|PMID:38003459|PMID:38835089|PMID:39076726|PMID:7669672|PMID:7888672|PMID:8832909|PMID:9326232|PMID:9401068|PMID:9536098|PMID:9787168
18345234 F11 coagulation factor XI gene DOID:3490 Noonan syndrome ISO RGD:1319673 D RGD:9068941 20211008 RGD protein:decreased expression:plasma: PMID:3354599|REF_RGD_ID:11041743
18345234 F11 coagulation factor XI gene DOID:3525 middle cerebral artery infarction ISO RGD:1319674 D RGD:9068941 20211008 RGD PMID:16533887|REF_RGD_ID:11041786
18345234 F11 coagulation factor XI gene DOID:630 genetic disease ISO RGD:1319673 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10593931|PMID:15026311|PMID:15140127|PMID:16835901|PMID:18446632|PMID:2052060|PMID:23332144|PMID:23929304|PMID:24033266|PMID:25741868|PMID:27710856|PMID:2813350|PMID:28492532|PMID:29138690|PMID:29178608|PMID:31064749|PMID:32118380|PMID:32166871|PMID:32935436|PMID:9326232
18345234 F11 coagulation factor XI gene DOID:9003281 Spontaneous Abortions ISO RGD:1319673 D RGD:9068941 20211008 RGD protein:increased activity:blood: PMID:25517908|REF_RGD_ID:11041767
18345234 F11 coagulation factor XI gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1319673 D RGD:9068941 20211008 RGD protein:increased activity:blood: PMID:10706899|REF_RGD_ID:11041768
18345234 F11 coagulation factor XI gene DOID:9004484 Sepsis ISO RGD:1309364 D RGD:9068941 20211008 RGD PMID:12000738|REF_RGD_ID:1598921
18345234 F11 coagulation factor XI gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1319673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532
18345258 NEIL3 nei like DNA glycosylase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1352319 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28284560
18345258 NEIL3 nei like DNA glycosylase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352319 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586
18345258 NEIL3 nei like DNA glycosylase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18345282 ACBD5 acyl-CoA binding domain containing 5 gene DOID:0050572 cone-rod dystrophy ISO RGD:1319743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:28492532
18345282 ACBD5 acyl-CoA binding domain containing 5 gene DOID:0080946 retinal dystrophy with leukodystrophy ISO RGD:1319743 D RGD:7240710 20200819 OMIM
18345282 ACBD5 acyl-CoA binding domain containing 5 gene DOID:0080946 retinal dystrophy with leukodystrophy ISO RGD:1319743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ACBD5-related condition | ClinVar Annotator: match by term: Retinal dystrophy with leukodystrophy PMID:23105016|PMID:25741868|PMID:28492532
18345282 ACBD5 acyl-CoA binding domain containing 5 gene DOID:1588 thrombocytopenia ISO RGD:1319743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532
18345282 ACBD5 acyl-CoA binding domain containing 5 gene DOID:630 genetic disease ISO RGD:1319743 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18345282 ACBD5 acyl-CoA binding domain containing 5 gene DOID:8501 fundus dystrophy ISO RGD:1319743 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532
18345282 ACBD5 acyl-CoA binding domain containing 5 gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1319743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 2 PMID:25741868|PMID:28492532
18345282 ACBD5 acyl-CoA binding domain containing 5 gene DOID:9005280 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities ISO RGD:1319743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities PMID:25741868
18345282 ACBD5 acyl-CoA binding domain containing 5 gene DOID:906 peroxisomal disease ISO RGD:1319744 D RGD:9068941 20220825 MouseDO
18345326 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:1059 intellectual disability ISO RGD:69456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18345326 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:2661 myoepithelioma ISO RGD:69456 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor
18345326 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69456 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19565504
18345326 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:69456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835
18345352 KIF3A kinesin family member 3A gene DOID:0080006 bone development disease ISO RGD:1352051 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17698054
18345352 KIF3A kinesin family member 3A gene DOID:0080322 polycystic kidney disease ISO RGD:1552608 D RGD:9068941 20220825 MouseDO
18345352 KIF3A kinesin family member 3A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352051 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
18345352 KIF3A kinesin family member 3A gene DOID:0080600 COVID-19 ISO RGD:1352051 D RGD:9068941 20211008 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18345352 KIF3A kinesin family member 3A gene DOID:10325 silicosis ISO RGD:1352051 D RGD:9068941 20230105 RGD protein:increased expression:respiratory system fluid/secretion: PMID:32042332|REF_RGD_ID:155791682
18345352 KIF3A kinesin family member 3A gene DOID:10325 silicosis ISO RGD:621536 D RGD:9068941 20230105 RGD protein:decreased expression:lung PMID:32042332|REF_RGD_ID:155791682
18345352 KIF3A kinesin family member 3A gene DOID:1148 polydactyly ISO RGD:1352051 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17698054
18345352 KIF3A kinesin family member 3A gene DOID:1934 dysostosis ISO RGD:1552608 D RGD:9068941 20220825 MouseDO
18345352 KIF3A kinesin family member 3A gene DOID:2841 asthma ISO RGD:1352051 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21912604
18345352 KIF3A kinesin family member 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18345352 KIF3A kinesin family member 3A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352051 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
18345352 KIF3A kinesin family member 3A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352051 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17698054
18345352 KIF3A kinesin family member 3A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352051 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27793025
18345399 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868
18345399 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532
18345399 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362
18345399 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18345399 MSANTD2 Myb/SANT DNA binding domain containing 2 gene DOID:9007661 Dwarfism ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362
18345460 ANKRD49 ankyrin repeat domain 49 gene DOID:1059 intellectual disability ISO RGD:1606551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18345460 ANKRD49 ankyrin repeat domain 49 gene DOID:12704 ataxia telangiectasia ISO RGD:1606551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532
18345484 PPIL6 peptidylprolyl isomerase like 6 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1352974 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532
18345516 CAT catalase gene DOID:0002116 pterygium ISO RGD:732740 D RGD:9068941 20211008 RGD protein:increased activity:conjunctiva PMID:18987486|REF_RGD_ID:9068921
18345516 CAT catalase gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:26074427
18345516 CAT catalase gene DOID:0050700 cardiomyopathy ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:11800590
18345516 CAT catalase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16081686
18345516 CAT catalase gene DOID:0050853 chronic venous insufficiency ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:plasma: PMID:23182154|REF_RGD_ID:9479068
18345516 CAT catalase gene DOID:0060071 pre-malignant neoplasm ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:14580687
18345516 CAT catalase gene DOID:0060180 colitis ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:21463646|REF_RGD_ID:5130869
18345516 CAT catalase gene DOID:0080199 colorectal carcinoma treatment ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:29229353|REF_RGD_ID:127284843
18345516 CAT catalase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29718361
18345516 CAT catalase gene DOID:0080600 COVID-19 ISO RGD:732740 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18345516 CAT catalase gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:737448 D RGD:9068941 20211008 RGD PMID:21557843|REF_RGD_ID:7205663
18345516 CAT catalase gene DOID:0081120 Graves ophthalmopathy ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:blood: PMID:20394549|REF_RGD_ID:9071200
18345516 CAT catalase gene DOID:0081120 Graves ophthalmopathy treatment ISO RGD:732740 D RGD:9068941 20211008 RGD protein:increased activity:plasma: PMID:15158621|REF_RGD_ID:9086875
18345516 CAT catalase gene DOID:10003 sensorineural hearing loss ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:15109710|REF_RGD_ID:8547516
18345516 CAT catalase gene DOID:10247 pleurisy ISO RGD:737448 D RGD:9068941 20211008 RGD PMID:19778612|REF_RGD_ID:5130749
18345516 CAT catalase gene DOID:10300 Raynaud disease treatment ISO RGD:732740 D RGD:9068941 20211008 RGD associated with Scleroderma, Systemic;protein:decreased activity:serum: PMID:17401513|REF_RGD_ID:9479162
18345516 CAT catalase gene DOID:10316 pneumoconiosis ISO RGD:732740 D RGD:9068941 20211008 RGD protein:increased expression:respiratory system fluid/secretion PMID:19273541|REF_RGD_ID:5130756
18345516 CAT catalase gene DOID:10584 retinitis pigmentosa ISO RGD:732740 D RGD:9068941 20211008 RGD PMID:19293779|REF_RGD_ID:8158049
18345516 CAT catalase gene DOID:1059 intellectual disability ISO RGD:732740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18345516 CAT catalase gene DOID:10754 otitis media treatment ISO RGD:2279 D RGD:9068941 20211008 RGD protein:decreased activity:cochlea,serum: PMID:22173336|REF_RGD_ID:7401215
18345516 CAT catalase gene DOID:10763 hypertension ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:16716903|REF_RGD_ID:1580833
18345516 CAT catalase gene DOID:10763 hypertension ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:11479740|PMID:20667508|PMID:21593737|PMID:22228705
18345516 CAT catalase gene DOID:10808 gastric ulcer ISO RGD:2279 D RGD:9068941 20211008 RGD protein:increased expression:stomach PMID:17895592|REF_RGD_ID:5130860
18345516 CAT catalase gene DOID:10808 gastric ulcer ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:1887894
18345516 CAT catalase gene DOID:10825 essential hypertension ISO RGD:732740 D RGD:9068941 20211008 RGD PMID:15735318|REF_RGD_ID:1581147
18345516 CAT catalase gene DOID:11054 urinary bladder cancer ISO RGD:732740 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155
18345516 CAT catalase gene DOID:11088 asphyxia neonatorum ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17963755
18345516 CAT catalase gene DOID:11396 pulmonary edema ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:15612528
18345516 CAT catalase gene DOID:11446 sciatic neuropathy ISO RGD:2279 D RGD:9068941 20211008 RGD protein:decreased activity:sciatic nerve, spinal cord, dorsal root ganglion: PMID:19675389|REF_RGD_ID:9479064
18345516 CAT catalase gene DOID:11650 bronchopulmonary dysplasia ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:19693467|REF_RGD_ID:5130750
18345516 CAT catalase gene DOID:1210 optic neuritis treatment ISO RGD:732740 D RGD:9068941 20211008 RGD associated with Encephalomyelitis, Autoimmune, Experimental; PMID:18055782|REF_RGD_ID:9068881
18345516 CAT catalase gene DOID:1214 tympanosclerosis ISO RGD:732740 D RGD:9068941 20211008 RGD protein:increased activity:erythrocyte: PMID:14710000|REF_RGD_ID:9479056
18345516 CAT catalase gene DOID:12306 vitiligo ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:skin: PMID:19439879|REF_RGD_ID:9479169
18345516 CAT catalase gene DOID:12306 vitiligo no_association ISO RGD:732740 D RGD:9068941 20211008 RGD DNA:SNPs:promoter,exon: -89A>T rs7943316), 389C>T (rs769217)(human) PMID:23868633|REF_RGD_ID:9479150
18345516 CAT catalase gene DOID:12306 vitiligo susceptibility ISO RGD:732740 D RGD:9068941 20211008 RGD DNA:SNP,haplotype:promoter,cds:-89A>T,389C>T(human) PMID:20613769|REF_RGD_ID:9479149
18345516 CAT catalase gene DOID:12361 Graves' disease treatment ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:erythrocyte: PMID:12919155|REF_RGD_ID:9068908
18345516 CAT catalase gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:732740 D RGD:9068941 20211008 RGD DNA:haplotype: : PMID:22574884|REF_RGD_ID:8655661
18345516 CAT catalase gene DOID:12849 autistic disorder ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15205966
18345516 CAT catalase gene DOID:12858 Huntington's disease ISO RGD:2279 D RGD:9068941 20211008 RGD protein:decreased expression:brain PMID:19445928|REF_RGD_ID:5130752
18345516 CAT catalase gene DOID:1289 neurodegenerative disease treatment ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:26208597|REF_RGD_ID:11557995
18345516 CAT catalase gene DOID:12930 dilated cardiomyopathy ISO RGD:732740 D RGD:9068941 20211008 RGD PMID:10652196|REF_RGD_ID:1581150
18345516 CAT catalase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:737448 D RGD:9068941 20211008 RGD PMID:22443450|REF_RGD_ID:7205647
18345516 CAT catalase gene DOID:13207 proliferative diabetic retinopathy ISO RGD:732740 D RGD:9068941 20211008 RGD associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: PMID:24092995|REF_RGD_ID:9068931
18345516 CAT catalase gene DOID:13208 background diabetic retinopathy ISO RGD:732740 D RGD:9068941 20211008 RGD associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: PMID:24092995|REF_RGD_ID:9068931
18345516 CAT catalase gene DOID:13241 Behcet's disease ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12074830
18345516 CAT catalase gene DOID:13241 Behcet's disease ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:erythrocyte: PMID:17206395|REF_RGD_ID:9068907
18345516 CAT catalase gene DOID:13550 angle-closure glaucoma severity ISO RGD:732740 D RGD:9068941 20211008 RGD DNA:SNP:promoter:g.4760C>T(rs1001179)(human) PMID:23961996|REF_RGD_ID:9068947
18345516 CAT catalase gene DOID:13580 cholestasis ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:21339256|REF_RGD_ID:5130873
18345516 CAT catalase gene DOID:13580 cholestasis ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27989131
18345516 CAT catalase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23274713
18345516 CAT catalase gene DOID:14323 Marfan syndrome ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25101153
18345516 CAT catalase gene DOID:14566 disease of cellular proliferation ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:21854796
18345516 CAT catalase gene DOID:1459 hypothyroidism treatment ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:29896255|REF_RGD_ID:38549578
18345516 CAT catalase gene DOID:1470 major depressive disorder ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20471444
18345516 CAT catalase gene DOID:1574 alcohol use disorder ISO RGD:2279 D RGD:9068941 20240411 RGD associated with cardiomyopathy PMID:7195942|REF_RGD_ID:405255663
18345516 CAT catalase gene DOID:1574 alcohol use disorder ISO RGD:2279 D RGD:9068941 20240411 RGD associated with diabetes; protein:decreased activity;testis, epididymis (rat) PMID:25541261|REF_RGD_ID:405255664
18345516 CAT catalase gene DOID:1574 alcohol use disorder ISO RGD:2279 D RGD:9068941 20240411 RGD associated with diabetes;protein:decreased activity:liver, kidney (rat) PMID:21713042|REF_RGD_ID:405255660
18345516 CAT catalase gene DOID:1574 alcohol use disorder treatment ISO RGD:2279 D RGD:9068941 20240411 RGD PMID:22596042|REF_RGD_ID:405255659
18345516 CAT catalase gene DOID:1574 alcohol use disorder treatment ISO RGD:2279 D RGD:9068941 20240411 RGD associated with cognitive disorder; protein:altered activity:hippocampus (rat) PMID:27367870|REF_RGD_ID:405255662
18345516 CAT catalase gene DOID:1596 depressive disorder ISO RGD:732740 D RGD:9068941 20211008 RGD associated with gastric adenocarcinoma; protein:decreased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003
18345516 CAT catalase gene DOID:161 keratosis ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:14580687
18345516 CAT catalase gene DOID:161 keratosis susceptibility ISO RGD:732740 D RGD:9068941 20211008 RGD DNA:SNP:promoter:-262C>T(rs1001179)(human) PMID:14580687|REF_RGD_ID:9479152
18345516 CAT catalase gene DOID:1679 cystitis ISO RGD:2279 D RGD:9068941 20211008 RGD mRNA:decreased expression:urinary bladder PMID:26109091|REF_RGD_ID:11035303
18345516 CAT catalase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased expression:pancreas PMID:12499913|REF_RGD_ID:2317410
18345516 CAT catalase gene DOID:1824 status epilepticus ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15245787|PMID:15752349|PMID:17383094|PMID:18096215
18345516 CAT catalase gene DOID:1909 melanoma ISO RGD:732740 D RGD:9068941 20211008 RGD protein:increased activity:melanocyte: PMID:9758419|REF_RGD_ID:9479151
18345516 CAT catalase gene DOID:1909 melanoma ISO RGD:737448 D RGD:9068941 20211008 RGD protein:increased activity:multiple: PMID:15224238|REF_RGD_ID:9479742
18345516 CAT catalase gene DOID:2237 hepatitis ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:1937386
18345516 CAT catalase gene DOID:2316 brain ischemia ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:21213399|REF_RGD_ID:5130891
18345516 CAT catalase gene DOID:2316 brain ischemia ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17564305
18345516 CAT catalase gene DOID:2527 nephrosis ISO RGD:732740 D RGD:9068941 20211008 RGD mRNA: decreased expression: glomerulus PMID:20685819|REF_RGD_ID:7205671
18345516 CAT catalase gene DOID:2582 acatalasia ISO RGD:732740 D RGD:7240710 20200205 OMIM
18345516 CAT catalase gene DOID:2582 acatalasia ISO RGD:732740 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Acatalasemia, japanese type | ClinVar Annotator: match by term: Acatalasia | ClinVar Annotator: match by term: CAT-related condition PMID:11197178|PMID:1551654|PMID:2308162|PMID:25741868|PMID:28492532|PMID:8673475
18345516 CAT catalase gene DOID:2738 pseudoxanthoma elasticum onset ISO RGD:732740 D RGD:9068941 20211008 RGD DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) PMID:17693525|REF_RGD_ID:8547520
18345516 CAT catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18048809
18345516 CAT catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20211008 RGD DNA:polymorphism:promoter:-21A>T (human) PMID:19373626|REF_RGD_ID:5130753
18345516 CAT catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20211008 RGD DNA:polymorphism:promoter:-262C>T (human) PMID:18048809|REF_RGD_ID:5130856
18345516 CAT catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:respiratory system fluid/secretion PMID:16622028|REF_RGD_ID:5130867
18345516 CAT catalase gene DOID:2841 asthma ISO RGD:737448 D RGD:9068941 20211008 RGD protein:decreased activity PMID:16622028|REF_RGD_ID:5130867
18345516 CAT catalase gene DOID:2841 asthma severity ISO RGD:732740 D RGD:9068941 20211008 RGD protein:increased expression:erythrocyte PMID:19475625|REF_RGD_ID:5130751
18345516 CAT catalase gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:732740 D RGD:9068941 20220610 RGD protein:increased activity:larynx PMID:8138195|REF_RGD_ID:152995273
18345516 CAT catalase gene DOID:2987 familial Mediterranean fever disease_progression ISO RGD:732740 D RGD:9068941 20211008 RGD PMID:22135646|REF_RGD_ID:9480233
18345516 CAT catalase gene DOID:3070 high grade glioma ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21138464
18345516 CAT catalase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732740 D RGD:9068941 20211008 RGD PMID:20080081|REF_RGD_ID:4293707
18345516 CAT catalase gene DOID:3458 breast adenocarcinoma ISO RGD:732740 D RGD:9068941 20211008 RGD PMID:25050522|REF_RGD_ID:9226881
18345516 CAT catalase gene DOID:3491 Turner syndrome ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25101153
18345516 CAT catalase gene DOID:3602 toxic encephalopathy ISO RGD:2279 D RGD:9068941 20211008 RGD protein:decreased activity:serum: PMID:16938375|REF_RGD_ID:9068882
18345516 CAT catalase gene DOID:3717 gastric adenocarcinoma ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003
18345516 CAT catalase gene DOID:3770 pulmonary fibrosis ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:19684199
18345516 CAT catalase gene DOID:3770 pulmonary fibrosis ISO RGD:732740 D RGD:9068941 20211008 RGD mRNA, protein:decreased expression:lung PMID:21190578|REF_RGD_ID:5130199
18345516 CAT catalase gene DOID:3908 lung non-small cell carcinoma ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:11731445
18345516 CAT catalase gene DOID:3969 papillary thyroid carcinoma ISO RGD:732740 D RGD:9068941 20211008 RGD protein:increased activity:plasma: PMID:20204550|REF_RGD_ID:9068926
18345516 CAT catalase gene DOID:4481 allergic rhinitis ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29028686
18345516 CAT catalase gene DOID:4483 rhinitis treatment ISO RGD:737448 D RGD:9068941 20211008 RGD protein:increased activity:blood,nasal cavity mucosa: PMID:21541033|REF_RGD_ID:9479054
18345516 CAT catalase gene DOID:5199 ureteral obstruction ISO RGD:2279 D RGD:9068941 20211008 RGD protein:decreased expression:kidney PMID:21305585|REF_RGD_ID:5130876
18345516 CAT catalase gene DOID:520 aortic disease ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25101153
18345516 CAT catalase gene DOID:5679 retinal disease treatment ISO RGD:2279 D RGD:9068941 20211008 RGD associated with radiation injuries;protein:decreased activity:retina: PMID:17514533|REF_RGD_ID:9107626
18345516 CAT catalase gene DOID:5844 myocardial infarction ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:14575298|REF_RGD_ID:1581148
18345516 CAT catalase gene DOID:5844 myocardial infarction ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:21600015
18345516 CAT catalase gene DOID:591 phobic disorder ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15309392
18345516 CAT catalase gene DOID:6000 congestive heart failure ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16105639
18345516 CAT catalase gene DOID:6000 congestive heart failure ISO RGD:732740 D RGD:9068941 20211008 RGD PMID:10618301|REF_RGD_ID:1581151
18345516 CAT catalase gene DOID:631 fibromyalgia ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:mononuclear cell: PMID:22532869|REF_RGD_ID:9479066
18345516 CAT catalase gene DOID:6543 acne ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:blood: PMID:16489259|REF_RGD_ID:9479167
18345516 CAT catalase gene DOID:6543 acne ISO RGD:732740 D RGD:9068941 20211008 RGD protein:increased activity:leukocyte: PMID:11349462|REF_RGD_ID:9479168
18345516 CAT catalase gene DOID:6543 acne severity ISO RGD:732740 D RGD:9068941 20211008 RGD PMID:23174057|REF_RGD_ID:9479743
18345516 CAT catalase gene DOID:670 amphetamine abuse treatment ISO RGD:2279 D RGD:9068941 20240406 RGD PMID:24445072|REF_RGD_ID:405255657
18345516 CAT catalase gene DOID:684 hepatocellular carcinoma ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:33010264
18345516 CAT catalase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732740 D RGD:9068941 20211008 RGD associated with liver cirrhosis with Hepatitis C;DNA:SNP:promoter:-262T>C (human) PMID:21907168|REF_RGD_ID:27095879
18345516 CAT catalase gene DOID:7148 rheumatoid arthritis ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22450443
18345516 CAT catalase gene DOID:783 end stage renal disease ISO RGD:2279 D RGD:9068941 20211008 RGD protein: decreased expression :kidney PMID:20007347|REF_RGD_ID:6892947
18345516 CAT catalase gene DOID:783 end stage renal disease ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16518626|PMID:19420110
18345516 CAT catalase gene DOID:7998 hyperthyroidism ISO RGD:2279 D RGD:9068941 20211008 RGD mRNA:decreased expression:liver: PMID:19914224|REF_RGD_ID:9068475
18345516 CAT catalase gene DOID:7998 hyperthyroidism ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23391542
18345516 CAT catalase gene DOID:8295 scabies treatment ISO RGD:732740 D RGD:9068941 20211008 RGD PMID:17884035|REF_RGD_ID:9479747
18345516 CAT catalase gene DOID:83 cataract ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:erythrocyte: PMID:15295623|REF_RGD_ID:9068905
18345516 CAT catalase gene DOID:83 cataract no_association ISO RGD:732740 D RGD:9068941 20211008 RGD PMID:11408722|REF_RGD_ID:9068911
18345516 CAT catalase gene DOID:83 cataract treatment ISO RGD:2279 D RGD:9068941 20211008 RGD protein:decreased activity:lens: PMID:21635889|REF_RGD_ID:9068909
18345516 CAT catalase gene DOID:850 lung disease ISO RGD:2279 D RGD:9068941 20211008 RGD Acute Lung Injury PMID:20534640|REF_RGD_ID:5130202
18345516 CAT catalase gene DOID:850 lung disease ISO RGD:2279 D RGD:9068941 20211008 RGD Lung Injury PMID:18793622|REF_RGD_ID:5130773
18345516 CAT catalase gene DOID:850 lung disease ISO RGD:2279 D RGD:9068941 20211008 RGD Lung Injury associated with Hyperoxia PMID:19895324|REF_RGD_ID:5130747
18345516 CAT catalase gene DOID:850 lung disease ISO RGD:732740 D RGD:9068941 20211008 RGD DNA:SNP:promoter:-330G>A (rs1001179) (human) PMID:19897513|REF_RGD_ID:5130745
18345516 CAT catalase gene DOID:850 lung disease ISO RGD:737448 D RGD:9068941 20211008 RGD Acute Lung Injury PMID:19151196|REF_RGD_ID:5130768
18345516 CAT catalase gene DOID:850 lung disease ISO RGD:737448 D RGD:9068941 20211008 RGD Lung Injury;protein:decreased expression:lung PMID:21190578|REF_RGD_ID:5130199
18345516 CAT catalase gene DOID:874 bacterial pneumonia ISO RGD:2279 D RGD:9068941 20211008 RGD protein:decreased expression:lung, plasma PMID:19842849|REF_RGD_ID:5130748
18345516 CAT catalase gene DOID:8741 seborrheic dermatitis ISO RGD:732740 D RGD:9068941 20211008 RGD protein:increased activity:scalp: PMID:24001414|REF_RGD_ID:9479166
18345516 CAT catalase gene DOID:8893 psoriasis ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:12559600
18345516 CAT catalase gene DOID:8893 psoriasis ISO RGD:732740 D RGD:9068941 20211008 RGD protein:increased activity:serum: PMID:12602965|REF_RGD_ID:9479159
18345516 CAT catalase gene DOID:8893 psoriasis treatment ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:skin: PMID:12165738|REF_RGD_ID:9479170
18345516 CAT catalase gene DOID:8893 psoriasis treatment ISO RGD:737448 D RGD:9068941 20211008 RGD protein:decreased activity:liver: PMID:24018880|REF_RGD_ID:9479744
18345516 CAT catalase gene DOID:8947 diabetic retinopathy ISO RGD:2279 D RGD:9068941 20211008 RGD protein:decreased expression:retina PMID:21314438|REF_RGD_ID:5130875
18345516 CAT catalase gene DOID:9000197 Edema ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19874808
18345516 CAT catalase gene DOID:9000307 Presbycusis ISO RGD:737448 D RGD:9068941 20211008 RGD PMID:11678164|REF_RGD_ID:8655636
18345516 CAT catalase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:732740 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155
18345516 CAT catalase gene DOID:9000564 Prehypertension susceptibility ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:23096233|REF_RGD_ID:9068479
18345516 CAT catalase gene DOID:9000918 Disease Progression ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10673208|PMID:11283936|PMID:16081686
18345516 CAT catalase gene DOID:9000965 Neoplasm Metastasis ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:12538496|PMID:22580338|PMID:23518002
18345516 CAT catalase gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:2279 D RGD:9068941 20240406 RGD PMID:28898587|PMID:8370342|REF_RGD_ID:405255646|REF_RGD_ID:405255658
18345516 CAT catalase gene DOID:9001472 Nasal Polyps ISO RGD:732740 D RGD:9068941 20211008 RGD protein:increased activity:nasal concha: PMID:16287205|REF_RGD_ID:9479048
18345516 CAT catalase gene DOID:9001488 Human Influenza ISO RGD:732740 D RGD:9068941 20211008 RGD PMID:19959187|REF_RGD_ID:5130744
18345516 CAT catalase gene DOID:9001488 Human Influenza ISO RGD:737448 D RGD:9068941 20211008 RGD PMID:16804020|PMID:20653246|REF_RGD_ID:5130201|REF_RGD_ID:5130864
18345516 CAT catalase gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2279 D RGD:9068941 20211008 RGD protein:decreased expression,decreased activity:retina: PMID:22509733|REF_RGD_ID:9068919
18345516 CAT catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:21525431|REF_RGD_ID:7205665
18345516 CAT catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:2279 D RGD:9068941 20211008 RGD associated with experimentally induced diabetes PMID:21686137|REF_RGD_ID:7205662
18345516 CAT catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:2279 D RGD:9068941 20211008 RGD rat gene in db/db mice PMID:20299359|REF_RGD_ID:7205676
18345516 CAT catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:737448 D RGD:9068941 20211008 RGD PMID:22315314|REF_RGD_ID:7205651
18345516 CAT catalase gene DOID:9002211 Hyperalgesia treatment ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:23658840|PMID:23952340|REF_RGD_ID:9479063|REF_RGD_ID:9479069
18345516 CAT catalase gene DOID:9002315 Kidney Calculi ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:24360074
18345516 CAT catalase gene DOID:9002371 Cardiotoxicity ISO RGD:732740 D RGD:9068941 20221208 CTD CTD Direct Evidence: therapeutic PMID:35792220
18345516 CAT catalase gene DOID:9002457 Experimental Arthritis ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22450443
18345516 CAT catalase gene DOID:9002910 Hearing Loss, Noise-Induced severity ISO RGD:732740 D RGD:9068941 20211008 RGD PMID:18212468|REF_RGD_ID:9190810
18345516 CAT catalase gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:732740 D RGD:9068941 20211008 RGD DNA:SNPs,haplotype:: PMID:17567781|REF_RGD_ID:9068906
18345516 CAT catalase gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:737448 D RGD:9068941 20211008 RGD PMID:23179931|REF_RGD_ID:9068923
18345516 CAT catalase gene DOID:9003049 Femur Head Necrosis susceptibility ISO RGD:732740 D RGD:9068941 20211008 RGD DNA:SNPs:multiple: PMID:18353692|REF_RGD_ID:9479160
18345516 CAT catalase gene DOID:9003106 Renoprival Hypertension ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:22733796|REF_RGD_ID:7206853
18345516 CAT catalase gene DOID:9003507 Premature Birth ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26055944
18345516 CAT catalase gene DOID:9003566 Mesothelioma ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:11283936
18345516 CAT catalase gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased expression:plasma PMID:20493834|REF_RGD_ID:5130771
18345516 CAT catalase gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:732740 D RGD:9068941 20211008 RGD PMID:21978706|REF_RGD_ID:9068474
18345516 CAT catalase gene DOID:9004009 Reperfusion Injury ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:19196076|PMID:20888583|REF_RGD_ID:5130200|REF_RGD_ID:5130760
18345516 CAT catalase gene DOID:9004009 Reperfusion Injury ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16682413|PMID:23743330|PMID:23875703|PMID:8215636
18345516 CAT catalase gene DOID:9004062 Hyperhidrosis ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:erythrocyte: PMID:16718367|REF_RGD_ID:9479745
18345516 CAT catalase gene DOID:9004203 Chromosome Breakage ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:25172298
18345516 CAT catalase gene DOID:9004464 Skin Neoplasms disease_progression ISO RGD:737448 D RGD:9068941 20211008 RGD PMID:1747937|REF_RGD_ID:9479155
18345516 CAT catalase gene DOID:9004464 Skin Neoplasms treatment ISO RGD:737448 D RGD:9068941 20211008 RGD PMID:21517247|REF_RGD_ID:9479189
18345516 CAT catalase gene DOID:9004484 Sepsis severity ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:15836852|REF_RGD_ID:9068893
18345516 CAT catalase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:21749277|PMID:22580338
18345516 CAT catalase gene DOID:9004610 Acute Lung Injury ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:15612528
18345516 CAT catalase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2279 D RGD:9068941 20211008 RGD protein:decreased expression:heart left ventricle PMID:19298531|REF_RGD_ID:5130755
18345516 CAT catalase gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:2279 D RGD:9068941 20211008 RGD protein:decreased expression:cochlear: PMID:10220857|REF_RGD_ID:9197256
18345516 CAT catalase gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17227729
18345516 CAT catalase gene DOID:9004989 Protein Deficiency ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15865262
18345516 CAT catalase gene DOID:9005452 Ureteral Calculi ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:24360074
18345516 CAT catalase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:20376213|REF_RGD_ID:5130772
18345516 CAT catalase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2279 D RGD:9068941 20240411 RGD associated with alcohol use disorder; protein:decreased activity;testis, epididymis (rat) PMID:25541261|REF_RGD_ID:405255664
18345516 CAT catalase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12123627|PMID:15855331|PMID:20709041
18345516 CAT catalase gene DOID:9005749 Necrosis ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:17309078|PMID:9548797
18345516 CAT catalase gene DOID:9006024 Hypotension ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:15612528
18345516 CAT catalase gene DOID:9006928 Viral Bronchiolitis ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased expression:nasal mucus PMID:21471094|REF_RGD_ID:5130770
18345516 CAT catalase gene DOID:9006928 Viral Bronchiolitis ISO RGD:737448 D RGD:9068941 20211008 RGD protein:decreased expression:lung PMID:21471094|REF_RGD_ID:5130770
18345516 CAT catalase gene DOID:9007355 Hashimoto Disease ISO RGD:732740 D RGD:9068941 20211008 RGD protein:increased activity:plasma: PMID:20204550|REF_RGD_ID:9068926
18345516 CAT catalase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2279 D RGD:9068941 20211008 RGD protein:decreased expression:liver PMID:21138988|REF_RGD_ID:7241599
18345516 CAT catalase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:25231249
18345516 CAT catalase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:20516118|PMID:21742780|PMID:23518002|PMID:25448439|PMID:27323401|PMID:28881718
18345516 CAT catalase gene DOID:9007692 Insulin Resistance ISO RGD:732740 D RGD:9068941 20211008 RGD associated with Obesity PMID:19188683|REF_RGD_ID:5130761
18345516 CAT catalase gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:21252394|PMID:26074427
18345516 CAT catalase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:11510883|REF_RGD_ID:1581149
18345516 CAT catalase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:21600015
18345516 CAT catalase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19109989
18345516 CAT catalase gene DOID:9008510 Chronic Hepatitis ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25053573
18345516 CAT catalase gene DOID:9008939 Breast Neoplasms ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25322848
18345516 CAT catalase gene DOID:9009039 Hyperemia ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:10792963
18345516 CAT catalase gene DOID:9074 systemic lupus erythematosus ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27497885
18345516 CAT catalase gene DOID:9111 cutaneous leishmaniasis ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:erythrocyte: PMID:9892499|REF_RGD_ID:9479188
18345516 CAT catalase gene DOID:9182 pemphigus ISO RGD:732740 D RGD:9068941 20211008 RGD protein:increased activities:skin: PMID:22738420|REF_RGD_ID:9479165
18345516 CAT catalase gene DOID:9201 lichen planus ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:erythrocyte: PMID:20372767|REF_RGD_ID:9479158
18345516 CAT catalase gene DOID:9281 phenylketonuria ISO RGD:2279 D RGD:9068941 20211008 RGD protein:decreased activity:brain: PMID:23232760|REF_RGD_ID:9068874
18345516 CAT catalase gene DOID:9351 diabetes mellitus ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:11117918
18345516 CAT catalase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15111504|PMID:15531508
18345516 CAT catalase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:plasma: PMID:12357295|REF_RGD_ID:9068922
18345516 CAT catalase gene DOID:9452 steatotic liver disease ISO RGD:2279 D RGD:9068941 20211008 RGD protein:decreased expression:liver PMID:21452373|REF_RGD_ID:5130871
18345516 CAT catalase gene DOID:9452 steatotic liver disease ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10860543
18345516 CAT catalase gene DOID:9477 pulmonary embolism ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:2510358
18345516 CAT catalase gene DOID:9637 stomatitis ISO RGD:2279 D RGD:9068941 20211008 RGD PMID:10569634|REF_RGD_ID:5130878
18345516 CAT catalase gene DOID:9669 senile cataract ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:serum: PMID:23781296|REF_RGD_ID:9068934
18345516 CAT catalase gene DOID:9669 senile cataract treatment ISO RGD:732740 D RGD:9068941 20211008 RGD PMID:16129095|REF_RGD_ID:10003112
18345516 CAT catalase gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:732740 D RGD:9068941 20211008 RGD protein:decreased activity:vitreous humor: PMID:10450379|REF_RGD_ID:9068932
18345516 CAT catalase gene DOID:9743 diabetic neuropathy ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10780678
18345516 CAT catalase gene DOID:9744 type 1 diabetes mellitus ISO RGD:732740 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:15111504
18345538 MROH1 maestro heat like repeat family member 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:2302193 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
18345538 MROH1 maestro heat like repeat family member 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:2302193 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
18345538 MROH1 maestro heat like repeat family member 1 gene DOID:4621 holoprosencephaly ISO RGD:2302193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532
18345538 MROH1 maestro heat like repeat family member 1 gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:2302193 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835
18345619 MEF2A myocyte enhancer factor 2A gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1322126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835
18345619 MEF2A myocyte enhancer factor 2A gene DOID:12930 dilated cardiomyopathy ISO RGD:1322126 D RGD:9068941 20211008 RGD PMID:16469744|REF_RGD_ID:1580546
18345619 MEF2A myocyte enhancer factor 2A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1359360 D RGD:9068941 20211008 RGD mRNA:increased expression:heart PMID:18413674|REF_RGD_ID:2312263
18345619 MEF2A myocyte enhancer factor 2A gene DOID:9007440 Coronary Artery Disease, Autosomal Dominant 1 ISO RGD:1322126 D RGD:7240710 20200205 OMIM
18345619 MEF2A myocyte enhancer factor 2A gene DOID:9007440 Coronary Artery Disease, Autosomal Dominant 1 ISO RGD:1322126 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant, 1 | ClinVar Annotator: match by term: Coronary artery disease/myocardial infarction PMID:14645853|PMID:15496429|PMID:15841183|PMID:25741868
18345659 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532
18345659 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1316424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532
18345659 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0081341 congenital myopathy 5 ISO RGD:1316424 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:25326637|PMID:25741868|PMID:28492532
18345659 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:1316424 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25326637|PMID:25741868|PMID:28492532
18345659 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0112086 nuclear type mitochondrial complex I deficiency 26 ISO RGD:1316424 D RGD:7240710 20200205 OMIM
18345659 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0112086 nuclear type mitochondrial complex I deficiency 26 ISO RGD:1316424 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | ClinVar Annotator: match by term: NDUFA9-related condition PMID:22114105|PMID:25741868|PMID:28492532|PMID:28671271
18345659 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:3652 Leigh disease ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532
18345659 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:630 genetic disease ISO RGD:1316424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
18345659 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098
18345700 TRIM8 tripartite motif containing 8 gene DOID:0050701 electroclinical syndrome ISO RGD:1319835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TRIM8-related epileptic encephalopathy PMID:25741868|PMID:30244534|PMID:33508234
18345700 TRIM8 tripartite motif containing 8 gene DOID:1826 epilepsy ISO RGD:1319835 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:30244534|PMID:32193649|PMID:33508234
18345700 TRIM8 tripartite motif containing 8 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285
18345700 TRIM8 tripartite motif containing 8 gene DOID:3873 desmoplastic/nodular medulloblastoma ISO RGD:1319835 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma PMID:12068298
18345700 TRIM8 tripartite motif containing 8 gene DOID:630 genetic disease ISO RGD:1319835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30244534|PMID:33508234
18345700 TRIM8 tripartite motif containing 8 gene DOID:9001434 Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome ISO RGD:1319835 D RGD:7240710 20210818 OMIM
18345700 TRIM8 tripartite motif containing 8 gene DOID:9001434 Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome ISO RGD:1319835 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and neurodevelopmental syndrome | ClinVar Annotator: match by term: TRIM8-related condition PMID:25741868|PMID:27346735|PMID:28492532|PMID:29758562|PMID:30244534|PMID:32193649|PMID:32531461|PMID:33508234|PMID:34930159
18345733 GALR3 galanin receptor 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532
18345733 GALR3 galanin receptor 3 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735333 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532
18345733 GALR3 galanin receptor 3 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532
18345733 GALR3 galanin receptor 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532
18345733 GALR3 galanin receptor 3 gene DOID:1470 major depressive disorder ISO RGD:735333 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27940914
18345743 CCDC160 coiled-coil domain containing 160 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
18345743 CCDC160 coiled-coil domain containing 160 gene DOID:0111823 autosomal hemophilia A ISO RGD:3379453 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
18345743 CCDC160 coiled-coil domain containing 160 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154
18345743 CCDC160 coiled-coil domain containing 160 gene DOID:12134 factor VIII deficiency ISO RGD:3379453 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
18345743 CCDC160 coiled-coil domain containing 160 gene DOID:12849 autistic disorder ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18345743 CCDC160 coiled-coil domain containing 160 gene DOID:2154 nephroblastoma ISO RGD:3379453 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 PMID:10402475|PMID:12713262|PMID:17603795|PMID:21362501|PMID:28492532
18345743 CCDC160 coiled-coil domain containing 160 gene DOID:630 genetic disease ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
18345749 MPHOSPH10 M-phase phosphoprotein 10 gene DOID:543 dystonia ISO RGD:1316939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498
18345749 MPHOSPH10 M-phase phosphoprotein 10 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1316939 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
18345765 RNF25 ring finger protein 25 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532
18345765 RNF25 ring finger protein 25 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532
18345765 RNF25 ring finger protein 25 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532
18345765 RNF25 ring finger protein 25 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532
18345765 RNF25 ring finger protein 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18345783 CXXC5 CXXC finger protein 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532
18345783 CXXC5 CXXC finger protein 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345048 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
18345783 CXXC5 CXXC finger protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18345783 CXXC5 CXXC finger protein 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345048 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
18345797 TMPRSS3 transmembrane serine protease 3 gene DOID:0050563 nonsyndromic deafness ISO RGD:1320861 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11907649|PMID:12920079|PMID:15447792|PMID:16021470|PMID:16283880|PMID:16460646|PMID:19170735|PMID:21534946|PMID:21786053|PMID:22975204|PMID:24033266|PMID:24526180|PMID:25262649|PMID:25741868|PMID:26036852|PMID:26408194|PMID:26467025|PMID:26969326|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:29293505|PMID:29431110|PMID:30242206|PMID:30311386|PMID:31053783|PMID:31152317|PMID:31412945|PMID:31589614|PMID:31980526|PMID:32853555|PMID:34599368|PMID:34868270|PMID:37331337|PMID:37713394|PMID:37811145
18345797 TMPRSS3 transmembrane serine protease 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1320861 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11137999|PMID:11424922|PMID:12920079|PMID:16021470|PMID:17551081|PMID:22975204|PMID:24033266|PMID:25741868|PMID:26226137|PMID:26445815|PMID:26969326|PMID:28492532|PMID:29889784|PMID:30303587|PMID:30311386|PMID:30622556|PMID:34440452|PMID:34868270
18345797 TMPRSS3 transmembrane serine protease 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935
18345797 TMPRSS3 transmembrane serine protease 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532
18345797 TMPRSS3 transmembrane serine protease 3 gene DOID:0110527 autosomal recessive nonsyndromic deafness 8 ISO RGD:1320861 D RGD:7240710 20200205 OMIM
18345797 TMPRSS3 transmembrane serine protease 3 gene DOID:0110527 autosomal recessive nonsyndromic deafness 8 ISO RGD:1320861 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8 | ClinVar Annotator: match by term: TMPRSS3-related condition PMID:11137999|PMID:11424922|PMID:11462234|PMID:11907649|PMID:12393794|PMID:12920079|PMID:15447792|PMID:16021470|PMID:16283880|PMID:16460646|PMID:16524950|PMID:17551081|PMID:17576681|PMID:19170735|PMID:21534946|PMID:21786053|PMID:22382023|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24416283|PMID:24526180|PMID:24657061|PMID:24853665|PMID:25262649|PMID:25474651|PMID:25741868|PMID:25770132|PMID:26036852|PMID:26346818|PMID:26408194|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27344577|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:28984810|PMID:29072634|PMID:29196752|PMID:29293505|PMID:29431110|PMID:29889784|PMID:30242206|PMID:30303587|PMID:30311386|PMID:30622556|PMID:30919572|PMID:31045651|PMID:31053783|PMID:31152317|PMID:31389194|PMID:31412945|PMID:31581539|PMID:31589614|PMID:31850270|PMID:31980526|PMID:32235586|PMID:32306631|PMID:3285355|PMID:32853555|PMID:32860223|PMID:34416374|PMID:34440452|PMID:34593925|PMID:3459936|PMID:34599368|PMID:34837038|PMID:34868270|PMID:35802133|PMID:35864128|PMID:36633841|PMID:37331337|PMID:37713394|PMID:37811145|PMID:9536098
18345797 TMPRSS3 transmembrane serine protease 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1320861 D RGD:9068941 20211008 RGD DFNB10, OMIM:605316, DFNB8 OMIM:601072 PMID:11137999|REF_RGD_ID:1599443
18345797 TMPRSS3 transmembrane serine protease 3 gene DOID:10316 pneumoconiosis ISO RGD:1320861 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25445010
18345797 TMPRSS3 transmembrane serine protease 3 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1320861 D RGD:9068941 20211008 RGD PMID:14695172|REF_RGD_ID:2325152
18345797 TMPRSS3 transmembrane serine protease 3 gene DOID:630 genetic disease ISO RGD:1320861 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11907649|PMID:15447792|PMID:16021470|PMID:16460646|PMID:19170735|PMID:21534946|PMID:21786053|PMID:24033266|PMID:25741868|PMID:26036852|PMID:26408194|PMID:26969326|PMID:28492532|PMID:28566687|PMID:29293505|PMID:30242206|PMID:30311386|PMID:32853555|PMID:34519870|PMID:34868270|PMID:37331337
18345797 TMPRSS3 transmembrane serine protease 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320861 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935
18345797 TMPRSS3 transmembrane serine protease 3 gene DOID:9004538 Hearing Loss ISO RGD:1320861 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:11137999|PMID:11424922|PMID:11462234|PMID:11907649|PMID:12920079|PMID:15447792|PMID:16021470|PMID:16283880|PMID:16460646|PMID:17551081|PMID:19170735|PMID:21534946|PMID:21786053|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24526180|PMID:25262649|PMID:25741868|PMID:26036852|PMID:26226137|PMID:26408194|PMID:26445815|PMID:26969326|PMID:28246597|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29293505|PMID:29431110|PMID:29889784|PMID:30242206|PMID:30303587|PMID:30311386|PMID:30622556|PMID:31045651|PMID:31152317|PMID:31589614|PMID:31980526|PMID:32853555|PMID:34440452|PMID:34599368|PMID:34868270|PMID:37331337|PMID:37713394|PMID:37811145
18345797 TMPRSS3 transmembrane serine protease 3 gene DOID:9258 Waardenburg syndrome ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386
18345797 TMPRSS3 transmembrane serine protease 3 gene DOID:9263 homocystinuria ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532
18345797 TMPRSS3 transmembrane serine protease 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320861 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532
18345829 KLK10 kallikrein related peptidase 10 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:1606032 D RGD:9068941 20211008 RGD mRNA:decreased expression:breast PMID:12788170|REF_RGD_ID:2314849
18345829 KLK10 kallikrein related peptidase 10 gene DOID:10283 prostate cancer susceptibility ISO RGD:1606032 D RGD:9068941 20211008 RGD DNA:SNP:exon:p.A50S (human) PMID:11920956|REF_RGD_ID:2314851
18345829 KLK10 kallikrein related peptidase 10 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1606032 D RGD:9068941 20211008 RGD PMID:18766180|REF_RGD_ID:2314846
18345829 KLK10 kallikrein related peptidase 10 gene DOID:363 uterine cancer ISO RGD:1606032 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:endometrium, serum PMID:16647913|REF_RGD_ID:2314848
18345829 KLK10 kallikrein related peptidase 10 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606032 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17182177
18345829 KLK10 kallikrein related peptidase 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1606032 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20686372
18345829 KLK10 kallikrein related peptidase 10 gene DOID:9003281 Spontaneous Abortions ISO RGD:1606032 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18539642
18345829 KLK10 kallikrein related peptidase 10 gene DOID:9004207 Testicular Neoplasms ISO RGD:1606032 D RGD:9068941 20211008 RGD mRNA, protein:decreased expression:testis PMID:11920956|REF_RGD_ID:2314851
18345829 KLK10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16800735
18345829 KLK10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:9068941 20211008 RGD PMID:17585892|REF_RGD_ID:2314847
18345829 KLK10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:9068941 20211008 RGD DNA:hypermethylation:exon (human) PMID:19150938|REF_RGD_ID:2314845
18345829 KLK10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms severity ISO RGD:1606032 D RGD:9068941 20211008 RGD PMID:12087468|REF_RGD_ID:2314850
18345852 ADAD2 adenosine deaminase domain containing 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1602291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868
18345852 ADAD2 adenosine deaminase domain containing 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1602291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
18345920 MARCHF1 membrane associated ring-CH-type finger 1 gene DOID:0080600 COVID-19 ISO RGD:1354489 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18345956 ZNF438 zinc finger protein 438 gene DOID:1909 melanoma ISO RGD:1603538 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22535842
18346022 NAT8 N-acetyltransferase 8 (putative) gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1350744 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
18346022 NAT8 N-acetyltransferase 8 (putative) gene DOID:543 dystonia ISO RGD:1350744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498
18346022 NAT8 N-acetyltransferase 8 (putative) gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1350744 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
18346022 NAT8 N-acetyltransferase 8 (putative) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350744 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
18346038 EFHC2 EF-hand domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
18346038 EFHC2 EF-hand domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Mental retardation, X-linked PMID:17221867|PMID:21681106|PMID:25741868|PMID:30208311
18346038 EFHC2 EF-hand domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18346038 EFHC2 EF-hand domain containing 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked PMID:17221867|PMID:25741868
18346038 EFHC2 EF-hand domain containing 2 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1348000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532
18346038 EFHC2 EF-hand domain containing 2 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1348000 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:25741868|PMID:28492532
18346062 DEAF1 DEAF1 transcription factor gene DOID:0050469 Costello syndrome ISO RGD:731970 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Costello syndrome PMID:28492532
18346062 DEAF1 DEAF1 transcription factor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532
18346062 DEAF1 DEAF1 transcription factor gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:731970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532
18346062 DEAF1 DEAF1 transcription factor gene DOID:0060041 autism spectrum disorder ISO RGD:731970 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders | ClinVar Annotator: match by term: Autism, susceptiblity to PMID:25741868|PMID:28492532|PMID:30763456|PMID:30923367|PMID:32094338
18346062 DEAF1 DEAF1 transcription factor gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:731970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868
18346062 DEAF1 DEAF1 transcription factor gene DOID:0070054 Vulto-van Silfout-de Vries syndrome ISO RGD:731970 D RGD:7240710 20200205 OMIM
18346062 DEAF1 DEAF1 transcription factor gene DOID:0070054 Vulto-van Silfout-de Vries syndrome ISO RGD:731970 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 24 PMID:21076407|PMID:23020937|PMID:24726472|PMID:25326635|PMID:25741868|PMID:26467025|PMID:28213671|PMID:28492532|PMID:28940898|PMID:30923367|PMID:32959227|PMID:33705764
18346062 DEAF1 DEAF1 transcription factor gene DOID:0080773 delta beta-thalassemia ISO RGD:731970 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417
18346062 DEAF1 DEAF1 transcription factor gene DOID:0111969 immunodeficiency 39 ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532
18346062 DEAF1 DEAF1 transcription factor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532
18346062 DEAF1 DEAF1 transcription factor gene DOID:10283 prostate cancer ISO RGD:731970 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532
18346062 DEAF1 DEAF1 transcription factor gene DOID:1059 intellectual disability ISO RGD:731970 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:28714951|PMID:31785789|PMID:31981491|PMID:35231114
18346062 DEAF1 DEAF1 transcription factor gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25741868|PMID:28492532
18346062 DEAF1 DEAF1 transcription factor gene DOID:12849 autistic disorder ISO RGD:731970 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Autism
18346062 DEAF1 DEAF1 transcription factor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532
18346062 DEAF1 DEAF1 transcription factor gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:731970 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:21910219|PMID:25427884|PMID:28492532
18346062 DEAF1 DEAF1 transcription factor gene DOID:630 genetic disease ISO RGD:731970 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383|PMID:24668509|PMID:24726472|PMID:25741868|PMID:26467025|PMID:26795593|PMID:26834045|PMID:28213671|PMID:28492532|PMID:28588821|PMID:28714951|PMID:28940898|PMID:30923367|PMID:31785789|PMID:31981491|PMID:33726816|PMID:35231114|PMID:9697411
18346062 DEAF1 DEAF1 transcription factor gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532
18346062 DEAF1 DEAF1 transcription factor gene DOID:9007457 Dyskinesias, Seizures, and Intellectual Developmental Disorder ISO RGD:731970 D RGD:7240710 20200205 OMIM
18346062 DEAF1 DEAF1 transcription factor gene DOID:9007457 Dyskinesias, Seizures, and Intellectual Developmental Disorder ISO RGD:731970 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: DEAF1-related disorder | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder PMID:17576681|PMID:24668509|PMID:24726472|PMID:25741868|PMID:26048982|PMID:26467025|PMID:26795593|PMID:26834045|PMID:28492532|PMID:28940898|PMID:30923367|PMID:31688097|PMID:31929336|PMID:32094338|PMID:9536098
18346062 DEAF1 DEAF1 transcription factor gene DOID:9007478 Malocclusion, Angle Class III ISO RGD:731970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hapsburg jaw PMID:25741868|PMID:28492532
18346062 DEAF1 DEAF1 transcription factor gene DOID:9008582 Developmental Disease ISO RGD:731970 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532|PMID:30923367
18346062 DEAF1 DEAF1 transcription factor gene DOID:9970 obesity ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532
18346096 CDC40 cell division cycle 40 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1316032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia PMID:33220177
18346096 CDC40 cell division cycle 40 gene DOID:0112326 pontocerebellar hypoplasia type 15 ISO RGD:1316032 D RGD:7240710 20210505 OMIM
18346096 CDC40 cell division cycle 40 gene DOID:0112326 pontocerebellar hypoplasia type 15 ISO RGD:1316032 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 15 PMID:25741868|PMID:33220177
18346138 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:732890 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:10679936|PMID:14564667|PMID:17256798|PMID:17304053|PMID:18076117|PMID:19414485|PMID:19780792|PMID:19888300|PMID:20591708|PMID:20882036|PMID:21770923|PMID:21914562|PMID:22473288|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684|PMID:31916079|PMID:9837815
18346138 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
18346138 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:732890 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:10679936|PMID:14564667|PMID:17256798|PMID:17304053|PMID:18076117|PMID:19414485|PMID:19780792|PMID:19888300|PMID:20591708|PMID:20882036|PMID:21770923|PMID:21914562|PMID:22473288|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684|PMID:31916079|PMID:9837815
18346138 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0111042 glycogen storage disease IXA ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684
18346138 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0111999 immunodeficiency 61 ISO RGD:732890 D RGD:7240710 20200205 OMIM
18346138 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:0111999 immunodeficiency 61 ISO RGD:732890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 61 | ClinVar Annotator: match by term: SH3KBP1-related condition PMID:25741868|PMID:28492532|PMID:29636373
18346138 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:12849 autistic disorder ISO RGD:732890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18346138 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:732890 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:10679936|PMID:14564667|PMID:17256798|PMID:17304053|PMID:18076117|PMID:19414485|PMID:19780792|PMID:19888300|PMID:20591708|PMID:20882036|PMID:21770923|PMID:21914562|PMID:22473288|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684|PMID:31916079|PMID:9837815
18346138 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:732890 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:10679936|PMID:14564667|PMID:17256798|PMID:19414485|PMID:19780792|PMID:19888300|PMID:20591708|PMID:20882036|PMID:21770923|PMID:21914562|PMID:22473288|PMID:22872100|PMID:23184456|PMID:28492532|PMID:31916079|PMID:9837815
18346138 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732890 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15059925
18346138 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18346138 SH3KBP1 SH3 domain containing kinase binding protein 1 gene DOID:9005315 Laterality Defects, Autosomal Dominant ISO RGD:732890 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Laterality defects, autosomal dominant PMID:28492532
18346180 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1351630 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868
18346180 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:0080237 autosomal dominant intellectual developmental disorder 46 ISO RGD:1351630 D RGD:7240710 20200205 OMIM
18346180 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:0080237 autosomal dominant intellectual developmental disorder 46 ISO RGD:1351630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 46 | ClinVar Annotator: match by term: KCNQ5-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 PMID:25741868|PMID:28492532|PMID:28669405
18346180 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:10283 prostate cancer ISO RGD:1351630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532
18346180 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:1059 intellectual disability ISO RGD:1351630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532
18346180 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:11830 myopia ISO RGD:1351630 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23396134
18346180 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:1826 epilepsy ISO RGD:1351630 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizures PMID:28492532
18346180 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:3659 sialuria ISO RGD:1351630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532
18346180 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1351630 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28189443
18346180 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:630 genetic disease ISO RGD:1351630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18004376|PMID:25741868|PMID:25741879|PMID:27602407|PMID:28492532|PMID:28669405
18346180 KCNQ5 potassium voltage-gated channel subfamily Q member 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1351630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741879
18346202 TBRG1 transforming growth factor beta regulator 1 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868
18346202 TBRG1 transforming growth factor beta regulator 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532
18346202 TBRG1 transforming growth factor beta regulator 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362
18346202 TBRG1 transforming growth factor beta regulator 1 gene DOID:1059 intellectual disability ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849
18346202 TBRG1 transforming growth factor beta regulator 1 gene DOID:5419 schizophrenia ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18346202 TBRG1 transforming growth factor beta regulator 1 gene DOID:9007661 Dwarfism ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362
18346215 ZSCAN16 zinc finger and SCAN domain containing 16 gene DOID:11372 megacolon ISO RGD:1345084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
18346269 RNASEH1 ribonuclease H1 gene DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:1319116 D RGD:7240710 20200205 OMIM
18346269 RNASEH1 ribonuclease H1 gene DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:1319116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | ClinVar Annotator: match by term: RNASEH1-related condition PMID:25741868|PMID:26094573|PMID:28492532|PMID:28508084
18346269 RNASEH1 ribonuclease H1 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1319116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532
18346269 RNASEH1 ribonuclease H1 gene DOID:630 genetic disease ISO RGD:1319116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:732599 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:25741868|PMID:28492532
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0081337 congenital myopathy ISO RGD:732599 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:22406191|PMID:25741868|PMID:28492532|PMID:29054425|PMID:6287911|PMID:7619526|PMID:7863154|PMID:9158151
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732599 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:732599 D RGD:7240710 20200205 OMIM
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel PMID:10195214|PMID:12588888|PMID:15079006|PMID:18806275|PMID:25741868|PMID:28492532|PMID:7254233
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:732599 D RGD:7240710 20200205 OMIM
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:732599 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: CHRNA1-Related Congenital Myasthenic Syndrome | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A PMID:16685696|PMID:22406191|PMID:22678886|PMID:23037934|PMID:25741868|PMID:25741885|PMID:28492532|PMID:29054425|PMID:3651795|PMID:6287911|PMID:7619526|PMID:7863154|PMID:8872460|PMID:9158151|PMID:9221765
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:12849 autistic disorder ISO RGD:732599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism PMID:24121633|PMID:25741868|PMID:26467025|PMID:27748205|PMID:28492532
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:14717 centronuclear myopathy ISO RGD:732599 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:24121633|PMID:25741868|PMID:26467025|PMID:27748205|PMID:28492532
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:1826 epilepsy ISO RGD:732599 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:24033266|PMID:25450229|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33216040|PMID:9221765
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:732599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy PMID:25741868|PMID:28492532
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:630 genetic disease ISO RGD:732599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:9221765
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9000784 Fibrosis ISO RGD:732599 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19690163
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9004016 Wiskott-Aldrich Syndrome 2 ISO RGD:732599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 PMID:28492532
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9005883 Pleural Effusion ISO RGD:732599 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pleural effusion PMID:25741868|PMID:28492532|PMID:30177536|PMID:31680349|PMID:36634413
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732599 D RGD:7240710 20200205 OMIM
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732599 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:10195214|PMID:14719537|PMID:15907919|PMID:16199547|PMID:17576681|PMID:18252226|PMID:18806275|PMID:22406191|PMID:22728938|PMID:23037934|PMID:24121633|PMID:25348405|PMID:25450229|PMID:25741868|PMID:25741885|PMID:26467025|PMID:27748205|PMID:28492532|PMID:29054425|PMID:30177536|PMID:31680349|PMID:33216040|PMID:36634413|PMID:6287911|PMID:7619526|PMID:7863154|PMID:9158151|PMID:9221765|PMID:9536098
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9006988 Congenital Myasthenic Syndrome, Fast-Channel ISO RGD:732599 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment ISO RGD:732599 D RGD:9068941 20211008 RGD PMID:10606626|REF_RGD_ID:704386
18346343 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9008386 Hydrops Fetalis ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949
18346361 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1350069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532
18346361 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
18346361 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:0111823 autosomal hemophilia A ISO RGD:1350069 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835
18346361 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:12134 factor VIII deficiency ISO RGD:1350069 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835
18346361 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1350069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18346361 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1558623 D RGD:9068941 20211008 RGD PMID:12496958|REF_RGD_ID:1582491
18346361 ITGB1BP2 integrin subunit beta 1 binding protein 2 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532
18346392 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1315512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532
18346392 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25087610
18346392 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307
18346392 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1315512 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532
18346392 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1315512 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532
18346392 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:12849 autistic disorder ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:0080059 autosomal recessive spinocerebellar ataxia 7 ISO RGD:1603717 D RGD:7240710 20200205 OMIM
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:0080059 autosomal recessive spinocerebellar ataxia 7 ISO RGD:1603717 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 | ClinVar Annotator: match by term: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | ClinVar Annotator: match by term: TPP1-related condition PMID:10330339|PMID:10862088|PMID:11017954|PMID:11071145|PMID:11339651|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22612257|PMID:22752289|PMID:23266810|PMID:23418007|PMID:23539563|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28335910|PMID:28464005|PMID:28492532|PMID:29631617|PMID:29655203|PMID:29687370|PMID:30119717|PMID:30771299|PMID:31122803|PMID:31283065|PMID:31489614|PMID:32329550|PMID:32412666|PMID:32855042|PMID:34126256|PMID:36403551|PMID:9295267|PMID:9536098|PMID:9788728
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:7240710 20200205 OMIM
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:34849271|PMID:9295267|PMID:9536098|PMID:9788728
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:31059981|PMID:31069529|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32005694|PMID:32146219|PMID:32329550|PMID:32580858|PMID:32855042|PMID:33348105|PMID:33377563|PMID:33604240|PMID:34126256|PMID:34849271|PMID:35314707|PMID:9295267|PMID:9536098|PMID:9788728
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29687370|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:31059981|PMID:31069529|PMID:31122803|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32005694|PMID:32146219|PMID:32329550|PMID:32412666|PMID:32580858|PMID:32855042|PMID:33348105|PMID:33356800|PMID:33377563|PMID:33604240|PMID:34126256|PMID:34849271|PMID:35314707|PMID:36034292|PMID:36403551|PMID:36539902|PMID:37922835|PMID:9295267|PMID:9536098|PMID:9788728
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1603717 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10320038
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10330339|PMID:10356316|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11071145|PMID:11339651|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23418007|PMID:23539563|PMID:24033266|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28335910|PMID:28464005|PMID:28492532|PMID:29056246|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31216804|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603717 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10330339|PMID:10356316|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26143525|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27146152|PMID:27407112|PMID:27553520|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29687370|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31069529|PMID:31122803|PMID:31139143|PMID:31216804|PMID:31283065|PMID:31440721|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32146219|PMID:32329550|PMID:32412666|PMID:33348105|PMID:33377563|PMID:33604240|PMID:34120799|PMID:34849271|PMID:35314707|PMID:35796208|PMID:36034292|PMID:36034301|PMID:36403551|PMID:9295267|PMID:9536098|PMID:9788728
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:1826 epilepsy ISO RGD:1603717 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10330339|PMID:18414213|PMID:19038966|PMID:21990111|PMID:22752289|PMID:22832778|PMID:23266810|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25741868|PMID:26467025|PMID:27553520|PMID:27776828|PMID:28492532|PMID:28717666|PMID:31283065|PMID:31489614|PMID:34849271
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:1826 epilepsy ISO RGD:1603717 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:1932 Angelman syndrome ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:10330339|PMID:21990111|PMID:25741868|PMID:28492532|PMID:30792901
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:3883 Lynch syndrome ISO RGD:1603717 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome PMID:10330339|PMID:20340139|PMID:25741868|PMID:26075876|PMID:28492532|PMID:29655203|PMID:30119717|PMID:36403551|PMID:9295267|PMID:9788728
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:630 genetic disease ISO RGD:1603717 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330339|PMID:10356316|PMID:10665500|PMID:11017954|PMID:11071145|PMID:11339651|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19201763|PMID:19793312|PMID:20301601|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27604308|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29687370|PMID:30541466|PMID:31122803|PMID:31283065|PMID:31489614|PMID:32329550|PMID:32412666|PMID:33356800|PMID:34849271|PMID:36034292|PMID:36539902|PMID:9295267|PMID:9536098|PMID:9788728
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive PMID:25741868|PMID:26467025|PMID:28492532
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603717 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17013881
18346441 TPP1 tripeptidyl peptidase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1603717 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10330339|PMID:11017954|PMID:11071145|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12796825|PMID:12950156|PMID:15317752|PMID:16782851|PMID:16814585|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18473686|PMID:18684116|PMID:19201763|PMID:19793312|PMID:20301601|PMID:21990111|PMID:22245569|PMID:23266810|PMID:23418007|PMID:23539563|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28464005|PMID:28492532|PMID:29631617|PMID:29687370|PMID:31122803|PMID:32412666|PMID:9295267|PMID:9788728
18346462 HELZ helicase with zinc finger gene DOID:0060040 pervasive developmental disorder ISO RGD:1316013 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Pervasive developmental disorder PMID:25741868
18346523 SP7 Sp7 transcription factor gene DOID:0110348 osteogenesis imperfecta type 12 ISO RGD:736995 D RGD:7240710 20200205 OMIM
18346523 SP7 Sp7 transcription factor gene DOID:0110348 osteogenesis imperfecta type 12 ISO RGD:736995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 | ClinVar Annotator: match by term: SP7-related condition PMID:20579626|PMID:25741868|PMID:28492532|PMID:29382611
18346523 SP7 Sp7 transcription factor gene DOID:12347 osteogenesis imperfecta ISO RGD:736995 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532|PMID:38318288
18346523 SP7 Sp7 transcription factor gene DOID:1712 aortic valve stenosis severity ISO RGD:736995 D RGD:9068941 20230420 RGD PMID:23578508|REF_RGD_ID:267010069
18346537 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:0060862 mal de Meleda ISO RGD:1346067 D RGD:7240710 20210303 OMIM
18346537 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:0060862 mal de Meleda ISO RGD:1346067 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS | ClinVar Annotator: match by term: Meleda Disease PMID:11285253|PMID:12483299|PMID:12535203|PMID:12603845|PMID:14674887|PMID:14756676|PMID:17008884|PMID:19692209|PMID:23290002|PMID:24033266|PMID:24093092|PMID:24604124|PMID:25741868|PMID:28492532|PMID:29231248|PMID:9887370
18346537 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1346067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532
18346537 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:3390 palmoplantar keratosis ISO RGD:1346067 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25168896
18346537 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:3390 palmoplantar keratosis ISO RGD:1346067 D RGD:9068941 20211008 RGD DNA:frameshift mutation, nonsense mutation, snp:cds, intron:p.C28fs32X, p.R96X, IVS2+1G>A (human) PMID:11285253|REF_RGD_ID:1599051
18346537 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:4621 holoprosencephaly ISO RGD:1346067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532
18346537 SLURP1 secreted LY6/PLAUR domain containing 1 gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:1346067 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835
18346548 FMN2 formin 2 gene DOID:0081211 autosomal recessive intellectual developmental disorder 47 ISO RGD:1345437 D RGD:7240710 20200205 OMIM
18346548 FMN2 formin 2 gene DOID:0081211 autosomal recessive intellectual developmental disorder 47 ISO RGD:1345437 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: FMN2-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 47 PMID:25741868|PMID:28492532
18346548 FMN2 formin 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon
18346548 FMN2 formin 2 gene DOID:1059 intellectual disability ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868
18346548 FMN2 formin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18346548 FMN2 formin 2 gene DOID:4450 renal cell carcinoma ISO RGD:1345437 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22138691
18346548 FMN2 formin 2 gene DOID:630 genetic disease ISO RGD:1345437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18346548 FMN2 formin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532
18346548 FMN2 formin 2 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1345437 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963
18346548 FMN2 formin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18346587 SERPINB10 serpin family B member 10 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:733342 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835
18346587 SERPINB10 serpin family B member 10 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:733342 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
18346587 SERPINB10 serpin family B member 10 gene DOID:0080600 COVID-19 ISO RGD:733342 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18346587 SERPINB10 serpin family B member 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733342 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16172807
18346604 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
18346604 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
18346604 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
18346604 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
18346604 TXNDC15 thioredoxin domain containing 15 gene DOID:9001990 Meckel Syndrome 14 ISO RGD:1312290 D RGD:7240710 20220518 OMIM
18346604 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
18346604 TXNDC15 thioredoxin domain containing 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18346604 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
18346622 NOP58 NOP58 ribonucleoprotein gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257
18346622 NOP58 NOP58 ribonucleoprotein gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257
18346622 NOP58 NOP58 ribonucleoprotein gene DOID:14557 primary pulmonary hypertension ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074
18346622 NOP58 NOP58 ribonucleoprotein gene DOID:3910 lung adenocarcinoma ISO RGD:733462 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27602772
18346622 NOP58 NOP58 ribonucleoprotein gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362
18346622 NOP58 NOP58 ribonucleoprotein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18346622 NOP58 NOP58 ribonucleoprotein gene DOID:9006205 Animal Disease Models ISO RGD:733462 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:27602772
18346622 NOP58 NOP58 ribonucleoprotein gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257
18346622 NOP58 NOP58 ribonucleoprotein gene DOID:9009117 primary pulmonary hypertension 1 ISO RGD:733462 D RGD:8554872 20240604 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23579436
18346667 LOC103225532 chloride channel protein ClC-Kb gene DOID:0050450 Gitelman syndrome ISO RGD:736095 D RGD:9068941 20211008 RGD PMID:11102542|REF_RGD_ID:1300379
18346667 LOC103225532 chloride channel protein ClC-Kb gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736095 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome
18346667 LOC103225532 chloride channel protein ClC-Kb gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:736095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant PMID:21415153|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
18346667 LOC103225532 chloride channel protein ClC-Kb gene DOID:0081421 familial focal epilepsy with variable foci 1 ISO RGD:736095 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 PMID:20810575|PMID:24830959|PMID:25741868|PMID:26920127|PMID:28381550|PMID:28492532|PMID:29254190|PMID:30773290
18346667 LOC103225532 chloride channel protein ClC-Kb gene DOID:0110144 Bartter disease type 3 ISO RGD:736095 D RGD:7240710 20200205 OMIM
18346667 LOC103225532 chloride channel protein ClC-Kb gene DOID:0110144 Bartter disease type 3 ISO RGD:736095 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Bartter disease type 3 PMID:10831588|PMID:10906158|PMID:11102542|PMID:11734858|PMID:15531551|PMID:15875219|PMID:16902263|PMID:17185149|PMID:17622951|PMID:20810575|PMID:21415153|PMID:21631963|PMID:21865213|PMID:23703872|PMID:23991001|PMID:24033266|PMID:24058621|PMID:24271511|PMID:24830959|PMID:24965226|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25810436|PMID:26467025|PMID:26920127|PMID:28288174|PMID:28381550|PMID:28492532|PMID:28555925|PMID:29254190|PMID:30773290|PMID:31115572|PMID:31672324|PMID:31690835|PMID:31803959|PMID:31834604|PMID:32576985|PMID:32857947|PMID:33532864|PMID:9326936
18346667 LOC103225532 chloride channel protein ClC-Kb gene DOID:0110146 Bartter disease type 4b ISO RGD:736095 D RGD:7240710 20200205 OMIM
18346667 LOC103225532 chloride channel protein ClC-Kb gene DOID:0110146 Bartter disease type 4b ISO RGD:736095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bartter disease type 4B PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
18346667 LOC103225532 chloride channel protein ClC-Kb gene DOID:0110937 autosomal dominant osteopetrosis 1 ISO RGD:736095 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 PMID:25741868
18346667 LOC103225532 chloride channel protein ClC-Kb gene DOID:10763 hypertension ISO RGD:736095 D RGD:9068941 20211008 RGD DNA:polymorphism:T481S PMID:15148291|REF_RGD_ID:1600684
18346667 LOC103225532 chloride channel protein ClC-Kb gene DOID:10763 hypertension no_association ISO RGD:736095 D RGD:9068941 20211008 RGD DNA:polymorphism:T481S PMID:16003175|REF_RGD_ID:1600683
18346667 LOC103225532 chloride channel protein ClC-Kb gene DOID:445 Bartter disease ISO RGD:736095 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Bartter syndrome PMID:10831588|PMID:10906158|PMID:11734858|PMID:12472765|PMID:21631963|PMID:23703872|PMID:24058621|PMID:24830959|PMID:25741868|PMID:25810436|PMID:26467025|PMID:28288174|PMID:28381550|PMID:28492532|PMID:28555925|PMID:31115572|PMID:32576985|PMID:32857947|PMID:33827883|PMID:35913199|PMID:36305432|PMID:9326936
18346667 LOC103225532 chloride channel protein ClC-Kb gene DOID:576 proteinuria ISO RGD:736095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:24830959|PMID:25741868|PMID:26920127|PMID:28381550|PMID:28492532|PMID:29254190
18346667 LOC103225532 chloride channel protein ClC-Kb gene DOID:630 genetic disease ISO RGD:736095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532
18346667 LOC103225532 chloride channel protein ClC-Kb gene DOID:9007758 Bartter Syndrome Type 3, with Hypocalciuria ISO RGD:736095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria PMID:15531551|PMID:16902263|PMID:17622951|PMID:24830959|PMID:24965226|PMID:25741868|PMID:26920127|PMID:28381550|PMID:28492532|PMID:29254190
18346698 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532
18346698 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:1059 intellectual disability ISO RGD:1351680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18346698 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351680 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
18346698 FAU FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:2746 glycogen storage disease V ISO RGD:1351680 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
18346716 LOC103233686 PDZ domain-containing protein GIPC3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1606469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587
18346716 LOC103233686 PDZ domain-containing protein GIPC3 gene DOID:0080690 RASopathy ISO RGD:1606469 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: RASopathy PMID:23379592|PMID:27257017|PMID:27751966|PMID:28492532
18346716 LOC103233686 PDZ domain-containing protein GIPC3 gene DOID:0110470 autosomal recessive nonsyndromic deafness 15 ISO RGD:1606469 D RGD:7240710 20200205 OMIM
18346716 LOC103233686 PDZ domain-containing protein GIPC3 gene DOID:0110470 autosomal recessive nonsyndromic deafness 15 ISO RGD:1606469 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 | ClinVar Annotator: match by term: GIPC3-related condition PMID:17690910|PMID:21326233|PMID:21660509|PMID:23510777|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32682410|PMID:32747562|PMID:32864763|PMID:9286457
18346716 LOC103233686 PDZ domain-containing protein GIPC3 gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:1606469 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 PMID:25741868|PMID:26373788|PMID:30067075
18346716 LOC103233686 PDZ domain-containing protein GIPC3 gene DOID:10003 sensorineural hearing loss ISO RGD:1606469 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:23510777|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32747562|PMID:32864763
18346716 LOC103233686 PDZ domain-containing protein GIPC3 gene DOID:10003 sensorineural hearing loss ISO RGD:1606469 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder
18346716 LOC103233686 PDZ domain-containing protein GIPC3 gene DOID:630 genetic disease ISO RGD:1606469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532
18346716 LOC103233686 PDZ domain-containing protein GIPC3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18346716 LOC103233686 PDZ domain-containing protein GIPC3 gene DOID:9004538 Hearing Loss ISO RGD:1606469 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:30303587|PMID:30311386|PMID:32682410
18346726 NRM nurim gene DOID:0050741 alcohol dependence ISO RGD:1352240 D RGD:9068941 20240502 RGD associated with other drug dependencies; DNA:SNPs:CDS:intron (rs2269705) PMID:27151647|REF_RGD_ID:405650603
18346726 NRM nurim gene DOID:11372 megacolon ISO RGD:1352240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
18346746 KRBA2 KRAB-A domain containing 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603590 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532
18346746 KRBA2 KRAB-A domain containing 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1603590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532
18346746 KRBA2 KRAB-A domain containing 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532
18346763 TFDP1 transcription factor Dp-1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1346598 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765
18346763 TFDP1 transcription factor Dp-1 gene DOID:2222 factor X deficiency ISO RGD:1346598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501
18346763 TFDP1 transcription factor Dp-1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346598 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19565504
18346783 LATS2 large tumor suppressor kinase 2 gene DOID:1788 peritoneal mesothelioma ISO RGD:1314216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
18346783 LATS2 large tumor suppressor kinase 2 gene DOID:3069 malignant astrocytoma ISO RGD:1314216 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17049657
18346783 LATS2 large tumor suppressor kinase 2 gene DOID:9256 colorectal cancer treatment ISO RGD:1314216 D RGD:9068941 20220728 RGD Human cells in mouse model PMID:32682784|REF_RGD_ID:153297782
18346819 HIPK3 homeodomain interacting protein kinase 3 gene DOID:1059 intellectual disability ISO RGD:731500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18346864 PHACTR4 phosphatase and actin regulator 4 gene DOID:0080600 COVID-19 ISO RGD:1351091 D RGD:9068941 20211008 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672
18346925 LOC103221883 uncharacterized LOC103221883 gene DOID:10485 esophageal atresia ISO RGD:736102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia
18346925 LOC103221883 uncharacterized LOC103221883 gene DOID:14669 acrodysostosis ISO RGD:736102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrodysostosis PMID:25741868|PMID:28492532
18346925 LOC103221883 uncharacterized LOC103221883 gene DOID:1596 depressive disorder ISO RGD:3281 D RGD:9068941 20211008 RGD PMID:22487514|REF_RGD_ID:7327149
18346925 LOC103221883 uncharacterized LOC103221883 gene DOID:224 transient cerebral ischemia ISO RGD:3281 D RGD:9068941 20211008 RGD protein:increased expression:hippocampus CA1 PMID:22860212|REF_RGD_ID:7327148
18346925 LOC103221883 uncharacterized LOC103221883 gene DOID:2841 asthma ISO RGD:736102 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19426955|PMID:21611147
18346925 LOC103221883 uncharacterized LOC103221883 gene DOID:630 genetic disease ISO RGD:736102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18346925 LOC103221883 uncharacterized LOC103221883 gene DOID:670 amphetamine abuse ISO RGD:736102 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18316681
18346925 LOC103221883 uncharacterized LOC103221883 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3281 D RGD:9068941 20240919 RGD PMID:24970286|REF_RGD_ID:407550181
18346925 LOC103221883 uncharacterized LOC103221883 gene DOID:9000998 Brain Injuries ISO RGD:3281 D RGD:9068941 20211008 RGD mRNA, protein:alternative form, decreased phosphorylation:brain PMID:23057870|REF_RGD_ID:7327147
18346925 LOC103221883 uncharacterized LOC103221883 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736102 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16740699|PMID:29662167
18346925 LOC103221883 uncharacterized LOC103221883 gene DOID:9002649 Acrodysostosis 2, with or without Hormone Resistance ISO RGD:736102 D RGD:7240710 20200205 OMIM
18346925 LOC103221883 uncharacterized LOC103221883 gene DOID:9002649 Acrodysostosis 2, with or without Hormone Resistance ISO RGD:736102 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance | ClinVar Annotator: match by term: PDE4D-related condition PMID:11200992|PMID:12121997|PMID:15025561|PMID:21681106|PMID:22464250|PMID:22464252|PMID:23033274|PMID:24033266|PMID:24203977|PMID:25044890|PMID:25064455|PMID:25741868|PMID:26633542|PMID:28492532|PMID:30006632|PMID:33858404
18346925 LOC103221883 uncharacterized LOC103221883 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18346925 LOC103221883 uncharacterized LOC103221883 gene DOID:9007096 Stroke ISO RGD:3281 D RGD:9068941 20211008 RGD mRNA:increased expression:blood, leukocyte PMID:17922411|REF_RGD_ID:2313907
18346925 LOC103221883 uncharacterized LOC103221883 gene DOID:9007096 Stroke ISO RGD:736102 D RGD:9068941 20211008 RGD PMID:14517540|PMID:16675738|PMID:16825591|PMID:16914755|REF_RGD_ID:1581003|REF_RGD_ID:1581004|REF_RGD_ID:1581005|REF_RGD_ID:1581007
18346986 LOC103246137 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:730948 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:24033266|PMID:24265693|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28981474|PMID:30718709|PMID:32531858|PMID:7479749
18346986 LOC103246137 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:730948 D RGD:7240710 20200205 OMIM
18346986 LOC103246137 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:730948 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: CNGA1-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 49 PMID:12362048|PMID:15570217|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:25775262|PMID:26306921|PMID:26496393|PMID:26802146|PMID:27391953|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30543658|PMID:30652268|PMID:30718709|PMID:32531858|PMID:34906470|PMID:36115851|PMID:7479749
18346986 LOC103246137 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10283 prostate cancer ISO RGD:730948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:28492532
18346986 LOC103246137 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12362048|PMID:16199547|PMID:18310263|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:7479749
18346986 LOC103246137 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20230214 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 PMID:12362048|PMID:16199547|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:32037395|PMID:33090715|PMID:33946315|PMID:7479749
18346986 LOC103246137 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12362048|PMID:16199547|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:27391953|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:32037395|PMID:32531858|PMID:33090715|PMID:33946315|PMID:34906470|PMID:7479749
18346986 LOC103246137 cyclic nucleotide gated channel subunit alpha 1 gene DOID:4448 macular degeneration ISO RGD:730948 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:24033266|PMID:24265693|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28981474|PMID:30718709|PMID:32531858|PMID:7479749
18346986 LOC103246137 cyclic nucleotide gated channel subunit alpha 1 gene DOID:5723 optic atrophy ISO RGD:730948 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868
18346986 LOC103246137 cyclic nucleotide gated channel subunit alpha 1 gene DOID:630 genetic disease ISO RGD:730948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18346986 LOC103246137 cyclic nucleotide gated channel subunit alpha 1 gene DOID:8501 fundus dystrophy ISO RGD:730948 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12362048|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25611614|PMID:25741868|PMID:25775262|PMID:26306921|PMID:26496393|PMID:26802146|PMID:26806561|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32037395|PMID:32531858|PMID:34906470|PMID:7479749
18346999 COMMD1 copper metabolism domain containing 1 gene DOID:1205 allergic disease ISO RGD:1323402 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22216203
18346999 COMMD1 copper metabolism domain containing 1 gene DOID:5082 liver cirrhosis ISO RGD:1323402 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17919502
18346999 COMMD1 copper metabolism domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1323402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18346999 COMMD1 copper metabolism domain containing 1 gene DOID:893 Wilson disease ISO RGD:12302435 D RGD:9068941 20240725 OMIA Copper toxicosis, COMMD1-related PMID:10384054|PMID:10442980|PMID:10585777|PMID:10772489|PMID:10803990|PMID:10818210|PMID:10901220|PMID:11234968|PMID:11393371|PMID:11809725|PMID:12450209|PMID:12547404|PMID:12648098|PMID:12816967|PMID:12925897|PMID:1380748|PMID:14568250|PMID:15028882|PMID:15205742|PMID:15566097|PMID:16293123|PMID:16649058|PMID:16868807|PMID:17099181|PMID:17355395|PMID:17572118|PMID:18305350|PMID:22029820|PMID:22879914|PMID:24758744|PMID:31179308|PMID:31504675|PMID:31557851|PMID:32053895|PMID:33129558|PMID:3343179|PMID:33668783|PMID:37038639|PMID:37594835|PMID:37741465|PMID:38682427|PMID:6639527|PMID:6710813|PMID:6869968|PMID:6939891|PMID:7065120|PMID:7114265|PMID:7212417|PMID:8432554|PMID:8989491|PMID:9587195|PMID:9949209
18346999 COMMD1 copper metabolism domain containing 1 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1323402 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22879914
18346999 COMMD1 copper metabolism domain containing 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323402 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23583003
18346999 COMMD1 copper metabolism domain containing 1 gene DOID:9006855 Dog Diseases ISO RGD:1323402 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17919502
18346999 COMMD1 copper metabolism domain containing 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:1323402 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22879914|PMID:25053573
18347033 KIF15 kinesin family member 15 gene DOID:0080600 COVID-19 ISO RGD:1351410 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18347033 KIF15 kinesin family member 15 gene DOID:2986 IgA glomerulonephritis ISO RGD:1351410 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25133636
18347033 KIF15 kinesin family member 15 gene DOID:3770 pulmonary fibrosis ISO RGD:1351410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:35417304
18347033 KIF15 kinesin family member 15 gene DOID:684 hepatocellular carcinoma ISO RGD:1351410 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28284560
18347033 KIF15 kinesin family member 15 gene DOID:9000152 Braddock-Carey Syndrome 2 ISO RGD:1351410 D RGD:7240710 20220810 OMIM
18347033 KIF15 kinesin family member 15 gene DOID:9000152 Braddock-Carey Syndrome 2 ISO RGD:1351410 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Braddock-carey syndrome 2 PMID:25741868|PMID:28150392
18347075 BTBD2 BTB domain containing 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1344972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532
18347075 BTBD2 BTB domain containing 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1344972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532
18347075 BTBD2 BTB domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1349720 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:26159999|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:0050700 cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25016126|PMID:25741868|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:0060224 atrial fibrillation ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:23861362|PMID:25741868|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:0060319 cardiac arrest ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:23861362|PMID:25741868|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1349720 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:10508515|PMID:11222804|PMID:12404106|PMID:17187287|PMID:17211633|PMID:20798775|PMID:24689081|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:0110218 Brugada syndrome 1 ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:23861362|PMID:25741868|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:0110644 long QT syndrome 1 ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:24123366|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26743238|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703|PMID:30276209|PMID:30471092|PMID:30847666|PMID:34088380
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:0110645 long QT syndrome 2 ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:23861362|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:0110652 long QT syndrome 11 ISO RGD:1349720 D RGD:7240710 20200205 OMIM
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:0110652 long QT syndrome 11 ISO RGD:1349720 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: AKAP9-related condition | ClinVar Annotator: match by term: Long QT syndrome 11 PMID:17576681|PMID:18093912|PMID:22378279|PMID:23174487|PMID:23861362|PMID:24033266|PMID:24123366|PMID:24467814|PMID:25016126|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25661095|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26350513|PMID:26580448|PMID:26704558|PMID:27707468|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:28986455|PMID:29247119|PMID:29350269|PMID:29574703|PMID:29641532|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30847666|PMID:31418098|PMID:31534214|PMID:31785789|PMID:31847883|PMID:33084842|PMID:33789662|PMID:34011629|PMID:35063694|PMID:9536098
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:1349720 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:31418098
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:2843 long QT syndrome ISO RGD:1349720 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:16199547|PMID:17576681|PMID:18093912|PMID:23861362|PMID:24033266|PMID:24123366|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25661095|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26230511|PMID:26580448|PMID:26671970|PMID:26704558|PMID:26743238|PMID:27707468|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:29247119|PMID:29574703|PMID:30276209|PMID:30821013|PMID:30847666|PMID:31534214|PMID:32233023|PMID:33084842|PMID:9536098
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:2843 long QT syndrome ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17576681|PMID:18093912|PMID:22378279|PMID:22584458|PMID:23174487|PMID:23861362|PMID:24033266|PMID:24123366|PMID:24467814|PMID:24981977|PMID:25016126|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25661095|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26350513|PMID:26580448|PMID:26671970|PMID:26704558|PMID:26743238|PMID:27332903|PMID:27707468|PMID:28003625|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:28986455|PMID:29181379|PMID:29247119|PMID:29350269|PMID:29511324|PMID:29574703|PMID:29641532|PMID:29688227|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31418098|PMID:31534214|PMID:31654968|PMID:31847883|PMID:32233023|PMID:33084842|PMID:33232181|PMID:33789662|PMID:34011629|PMID:34088380|PMID:9536098
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:2843 long QT syndrome ISO RGD:1349720 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17576681|PMID:18093912|PMID:22378279|PMID:22584458|PMID:23174487|PMID:23861362|PMID:24033266|PMID:24123366|PMID:24467814|PMID:24981977|PMID:25016126|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25640679|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26350513|PMID:26580448|PMID:26671970|PMID:26704558|PMID:26743238|PMID:27332903|PMID:27707468|PMID:28003625|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:28986455|PMID:29181379|PMID:29247119|PMID:29350269|PMID:29511324|PMID:29574703|PMID:29641532|PMID:29688227|PMID:30276209|PMID:30369311|PMID:30471092|PMID:30615648|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31418098|PMID:31534214|PMID:31654968|PMID:31785789|PMID:31847883|PMID:32233023|PMID:32508047|PMID:33084842|PMID:33232181|PMID:33789662|PMID:34011629|PMID:34088380|PMID:35063694|PMID:35932045|PMID:9536098
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:37 skin disease ISO RGD:1349720 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16835338
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1349720 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:22584458|PMID:28492532|PMID:32233023
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:397 restrictive cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:6000 congestive heart failure ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:23861362|PMID:25741868|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:23861362|PMID:25741868|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:24123366|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26743238|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703|PMID:30276209
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:24123366|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26743238|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703|PMID:30276209|PMID:30471092|PMID:30847666|PMID:34088380
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:23861362|PMID:25741868|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:9007964 Arsenic Poisoning ISO RGD:1349720 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16835338
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:9120 amyloidosis ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:23861362|PMID:25741868|PMID:28492532
18347130 AKAP9 A-kinase anchoring protein 9 gene DOID:9256 colorectal cancer ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050453 lissencephaly ISO RGD:1351274 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Macrogyria PMID:23603762|PMID:25140959|PMID:25326635|PMID:25609763|PMID:25741868|PMID:28135719|PMID:28196890|PMID:28492532|PMID:29671837|PMID:33818783|PMID:36175372
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1351274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25741868
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10862709|PMID:23664119|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25741868|PMID:26100331|PMID:27549087|PMID:28196890|PMID:28492532|PMID:28554554
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1351274 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532|PMID:30504930|PMID:32376792
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0060160 childhood spinal muscular atrophy ISO RGD:1351274 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:1351274 D RGD:7240710 20200205 OMIM
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:1351274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 PMID:10862709|PMID:17576681|PMID:18414213|PMID:21076407|PMID:22368300|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:25140959|PMID:25326635|PMID:25326637|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25609763|PMID:25700176|PMID:25741868|PMID:25741869|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28135719|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29314763|PMID:29671837|PMID:29706646|PMID:30687093|PMID:32238909|PMID:9536098
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:1351274 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 PMID:10862709|PMID:17576681|PMID:18414213|PMID:21076407|PMID:22368300|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:25131622|PMID:25140959|PMID:25326635|PMID:25326637|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25590979|PMID:25609763|PMID:25700176|PMID:25741868|PMID:25741869|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26467025|PMID:26846447|PMID:27331017|PMID:27549087|PMID:27754416|PMID:28135719|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29209020|PMID:29243232|PMID:29286531|PMID:29314763|PMID:29671837|PMID:29706646|PMID:30369941|PMID:30687093|PMID:31164858|PMID:32238909|PMID:32376792|PMID:32656949|PMID:32788638|PMID:33223419|PMID:33710394|PMID:35099838|PMID:38513047|PMID:9536098
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070348 spinal muscular atrophy with lower extremity predominant ISO RGD:1351274 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy with lower extremity predominance PMID:23664120|PMID:25512093|PMID:25609763|PMID:25741868|PMID:26100331|PMID:27066557|PMID:28492532|PMID:29671837|PMID:32788638|PMID:36175372
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 ISO RGD:1351274 D RGD:7240710 20200205 OMIM
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 ISO RGD:1351274 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant PMID:10862709|PMID:12730604|PMID:17576681|PMID:18414213|PMID:20697106|PMID:21102439|PMID:21820100|PMID:22459677|PMID:22847149|PMID:23603762|PMID:23664119|PMID:24033266|PMID:25326635|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25609763|PMID:25700176|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26846447|PMID:27331017|PMID:27549087|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29314763|PMID:29379136|PMID:30122514|PMID:30168217|PMID:30687093|PMID:31364990|PMID:31618753|PMID:32656949|PMID:34368388|PMID:35606327|PMID:9536098
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0080067 Charcot-Marie-Tooth disease type 5 ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 5
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1351274 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23603762
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1351274 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:25741868|PMID:28492532
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351274 D RGD:7240710 20200205 OMIM
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351274 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:10862709|PMID:12730604|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301532|PMID:20697106|PMID:21076407|PMID:21102439|PMID:21820100|PMID:22368300|PMID:22398446|PMID:22426545|PMID:22459677|PMID:22847149|PMID:23603762|PMID:23664119|PMID:23664120|PMID:24033266|PMID:24136616|PMID:24307404|PMID:25025039|PMID:25131622|PMID:25140959|PMID:25326635|PMID:25417161|PMID:25470043|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25590979|PMID:25609763|PMID:25635128|PMID:25640679|PMID:25700176|PMID:25741868|PMID:25817843|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26846447|PMID:27066557|PMID:27331017|PMID:27549087|PMID:27754416|PMID:28135719|PMID:28196890|PMID:28263302|PMID:28325891|PMID:28492532|PMID:28554332|PMID:28554554|PMID:28602352|PMID:28783747|PMID:29286531|PMID:29314763|PMID:29379136|PMID:29653220|PMID:29671837|PMID:30031633|PMID:30122514|PMID:30168217|PMID:30504930|PMID:30510536|PMID:30687093|PMID:31127727|PMID:31164858|PMID:31278258|PMID:31364990|PMID:31372974|PMID:31618753|PMID:31680123|PMID:32238909|PMID:32376792|PMID:32397312|PMID:32656949|PMID:32788638|PMID:32947049|PMID:33223419|PMID:33710394|PMID:33818783|PMID:34368388|PMID:35099838|PMID:35231114|PMID:35606327|PMID:36175372|PMID:36413997|PMID:38513047|PMID:9536098
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0110854 rhizomelic chondrodysplasia punctata type 5 ISO RGD:1351274 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 PMID:25741868|PMID:26100331|PMID:28492532
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant PMID:12730604|PMID:20697106|PMID:21102439|PMID:22459677|PMID:23664120|PMID:25326635|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25609763|PMID:25741868|PMID:26100331|PMID:27066557|PMID:27549087|PMID:28492532|PMID:28554554|PMID:29671837|PMID:32788638
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:25635128
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23603762|PMID:25741868|PMID:26100331|PMID:26392352|PMID:26467025|PMID:28166811|PMID:28196890|PMID:28492532|PMID:29671837
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:1351274 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability PMID:23603762|PMID:25131622|PMID:25741868|PMID:26100331|PMID:26467025|PMID:28196890|PMID:28492532|PMID:29671837|PMID:31164858|PMID:33223419|PMID:33710394
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:17576681|PMID:18414213|PMID:21820100|PMID:22847149|PMID:24033266|PMID:24136616|PMID:25025039|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26467025|PMID:28492532|PMID:29379136|PMID:30504930|PMID:9536098
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351274 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10862709|PMID:17576681|PMID:18414213|PMID:21820100|PMID:22847149|PMID:24033266|PMID:24136616|PMID:25025039|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26467025|PMID:28492532|PMID:29379136|PMID:30122514|PMID:30504930|PMID:9536098
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10652 Alzheimer's disease ISO RGD:1351274 D RGD:9068941 20211008 RGD protein:increased expression:brain PMID:9402150|REF_RGD_ID:13207349
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10907 microcephaly ISO RGD:1351274 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:23603762
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy PMID:25512093|PMID:28492532
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1389 polyneuropathy ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:28492532
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1351274 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:17576681|PMID:18414213|PMID:24033266|PMID:24136616|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26467025|PMID:27066557|PMID:28492532|PMID:30031633|PMID:30504930|PMID:9536098
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1826 epilepsy ISO RGD:1351274 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Seizure PMID:23603762|PMID:28196890|PMID:28492532|PMID:29671837|PMID:33818783
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:2477 motor peripheral neuropathy ISO RGD:1351274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10862709|PMID:23664119|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25741868|PMID:26100331|PMID:27549087|PMID:28196890|PMID:28492532|PMID:28554554
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:3969 papillary thyroid carcinoma ISO RGD:1351274 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28030816
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:423 myopathy ISO RGD:1351274 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:26392352|PMID:26633542|PMID:28492532|PMID:30122514|PMID:34368388|PMID:35606327
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:574 peripheral nervous system disease ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:630 genetic disease ISO RGD:1351274 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10862709|PMID:11250194|PMID:17576681|PMID:18414213|PMID:18466635|PMID:22398446|PMID:22426545|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:25131622|PMID:25417161|PMID:25470043|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25533962|PMID:25590979|PMID:25700176|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26467025|PMID:26633542|PMID:27066557|PMID:27331017|PMID:27549087|PMID:27754416|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29243232|PMID:29286531|PMID:29314763|PMID:29653220|PMID:30031633|PMID:301071|PMID:30122514|PMID:31164858|PMID:31372974|PMID:32238909|PMID:32376792|PMID:32788638|PMID:33223419|PMID:33710394|PMID:34368388|PMID:35099838|PMID:35468861|PMID:35606327|PMID:36413997|PMID:9536098
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:870 neuropathy ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1351274 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9001392 Herpes Simplex Encephalitis 3 ISO RGD:1351274 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 PMID:28492532
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1351274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant PMID:18414213|PMID:24033266|PMID:25741868|PMID:26344056|PMID:26467025|PMID:28492532
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9005532 Muscle Weakness ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive muscle weakness PMID:25741868|PMID:28492532|PMID:32656949
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25590979|PMID:25741868|PMID:27754416|PMID:28492532|PMID:29286531
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9008305 Talipes Cavus ISO RGD:1351274 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:25741868|PMID:26392352|PMID:26633542|PMID:28492532|PMID:30122514|PMID:34368388|PMID:35606327
18347250 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 gene DOID:913 atrophic muscular disease ISO RGD:1351274 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Distal lower limb amyotrophy PMID:25741868|PMID:26392352|PMID:26633542|PMID:28492532|PMID:30122514|PMID:34368388|PMID:35606327
18347337 VANGL2 VANGL planar cell polarity protein 2 gene DOID:0080016 spina bifida ISO RGD:1319787 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21404367
18347337 VANGL2 VANGL planar cell polarity protein 2 gene DOID:0080074 neural tube defect ISO RGD:1319787 D RGD:7240710 20230505 OMIM
18347337 VANGL2 VANGL planar cell polarity protein 2 gene DOID:0080074 neural tube defect ISO RGD:1319787 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to | ClinVar Annotator: match by term: VANGL2-related condition PMID:20558380|PMID:25741868|PMID:28492532
18347337 VANGL2 VANGL planar cell polarity protein 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532
18347337 VANGL2 VANGL planar cell polarity protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1319787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18347337 VANGL2 VANGL planar cell polarity protein 2 gene DOID:630 genetic disease ISO RGD:1319787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
18347337 VANGL2 VANGL planar cell polarity protein 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:1319787 D RGD:9068941 20211008 RGD mRNA:decreased expression:primary tumor:reduced in 4/14 cases PMID:12011999|REF_RGD_ID:2298799
18347337 VANGL2 VANGL planar cell polarity protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18347361 YLPM1 YLP motif containing 1 gene DOID:1059 intellectual disability ISO RGD:1351286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild
18347361 YLPM1 YLP motif containing 1 gene DOID:2661 myoepithelioma ISO RGD:1351286 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor
18347401 LOC103234663 interferon lambda-1 gene DOID:0080600 COVID-19 ameliorates ISO RGD:1347142 D RGD:9068941 20211008 RGD human protein in a mouse model PMID:32854108|REF_RGD_ID:126848773
18347401 LOC103234663 interferon lambda-1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1347142 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532
18347401 LOC103234663 interferon lambda-1 gene DOID:12205 dengue disease ameliorates ISO RGD:1347142 D RGD:9068941 20211008 RGD protein:increased expression:blood serum (human) PMID:28238051|REF_RGD_ID:126848771
18347401 LOC103234663 interferon lambda-1 gene DOID:12206 dengue hemorrhagic fever ameliorates ISO RGD:1347142 D RGD:9068941 20211008 RGD DNA:SNP:enhancer:-1043C>T (rs7247086) (human) PMID:31981768|REF_RGD_ID:126848742
18347401 LOC103234663 interferon lambda-1 gene DOID:1883 hepatitis C ISO RGD:1347142 D RGD:9068941 20211008 RGD DNA:missense mutation, haplotype:exon (rs30461) (human) PMID:24269996|REF_RGD_ID:126848746
18347401 LOC103234663 interferon lambda-1 gene DOID:2841 asthma exacerbates ISO RGD:1347142 D RGD:9068941 20211008 RGD associated with common cold;mRNA:decreased expression:sputum (human) PMID:25784275|REF_RGD_ID:126848770
18347401 LOC103234663 interferon lambda-1 gene DOID:2841 asthma exacerbates ISO RGD:1347142 D RGD:9068941 20211008 RGD associated with common cold;protein:increased expression: nasal cavity (human) PMID:22135341|REF_RGD_ID:126848775
18347401 LOC103234663 interferon lambda-1 gene DOID:321 tropical spastic paraparesis ISO RGD:1347142 D RGD:9068941 20211008 RGD associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:29990995|REF_RGD_ID:126848769
18347401 LOC103234663 interferon lambda-1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1347142 D RGD:9068941 20211008 RGD human protein and cells in mouse model PMID:24769671|REF_RGD_ID:126848750
18347401 LOC103234663 interferon lambda-1 gene DOID:8970 subacute sclerosing panencephalitis ISO RGD:1347142 D RGD:9068941 20211008 RGD protein:increased expression:blood serum (human) PMID:30077763|REF_RGD_ID:126848745
18347401 LOC103234663 interferon lambda-1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347142 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:liver, blood serum (human) PMID:23071503|REF_RGD_ID:126848749
18347401 LOC103234663 interferon lambda-1 gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1347142 D RGD:9068941 20211008 RGD protein:altered expression:blood serum (human) PMID:21145813|REF_RGD_ID:126848747
18347401 LOC103234663 interferon lambda-1 gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1347142 D RGD:9068941 20211008 RGD protein:increased expression:blood serum (human) PMID:30926417|REF_RGD_ID:126848741
18347401 LOC103234663 interferon lambda-1 gene DOID:9006081 Osteolysis ameliorates ISO RGD:1347142 D RGD:9068941 20211008 RGD associated with Inflammation; human protein in a mouse model PMID:32488049|REF_RGD_ID:126848774
18347401 LOC103234663 interferon lambda-1 gene DOID:9006928 Viral Bronchiolitis exacerbates ISO RGD:1347142 D RGD:9068941 20211008 RGD associated with respiratory syncytial virus infectious disease;mRNA:increased expression:mucosa of nasopharynx (human) PMID:24389019|REF_RGD_ID:126848743
18347401 LOC103234663 interferon lambda-1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1347142 D RGD:9068941 20211008 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:21957142|REF_RGD_ID:126848748
18347401 LOC103234663 interferon lambda-1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347142 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532
18347410 PRR15 proline rich 15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358
18347427 TJP3 tight junction protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1319483 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546
18347427 TJP3 tight junction protein 3 gene DOID:0080600 COVID-19 ISO RGD:1319483 D RGD:9068941 20211008 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744
18347427 TJP3 tight junction protein 3 gene DOID:0080690 RASopathy ISO RGD:1319483 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: RASopathy PMID:23379592|PMID:27257017|PMID:27751966|PMID:28492532
18347427 TJP3 tight junction protein 3 gene DOID:13938 amenorrhea ISO RGD:1319483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106
18347427 TJP3 tight junction protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319483 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17013881
18347451 POSTN periostin gene DOID:0060500 drug allergy ISO RGD:1313223 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18391768
18347451 POSTN periostin gene DOID:0080010 bone structure disease ISO RGD:1313224 D RGD:9068941 20220825 MouseDO
18347451 POSTN periostin gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1313223 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18391768
18347451 POSTN periostin gene DOID:10763 hypertension ISO RGD:1305285 D RGD:9068941 20211008 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:left ventricle: PMID:21712488|REF_RGD_ID:10041050
18347451 POSTN periostin gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1313223 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22363622
18347451 POSTN periostin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1313223 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21641384
18347451 POSTN periostin gene DOID:1474 aggressive periodontitis ISO RGD:1313224 D RGD:9068941 20220825 MouseDO OMIM:170650 | OMIM:608526
18347451 POSTN periostin gene DOID:5082 liver cirrhosis ISO RGD:1313223 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:32344006
18347451 POSTN periostin gene DOID:5199 ureteral obstruction ISO RGD:1313224 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:kidney: PMID:22167593|REF_RGD_ID:10040972
18347451 POSTN periostin gene DOID:5844 myocardial infarction ISO RGD:1305285 D RGD:9068941 20211008 RGD protein:increased expression:heart: PMID:24212842|REF_RGD_ID:10041024
18347451 POSTN periostin gene DOID:6000 congestive heart failure treatment ISO RGD:1305285 D RGD:9068941 20211008 RGD PMID:15381649|REF_RGD_ID:10040999
18347451 POSTN periostin gene DOID:6000 congestive heart failure treatment ISO RGD:1313223 D RGD:9068941 20211008 RGD mRNA:increased expression:heart PMID:16414453|REF_RGD_ID:10040951
18347451 POSTN periostin gene DOID:7693 abdominal aortic aneurysm ISO RGD:1313223 D RGD:9068941 20211008 RGD protein:increased expression:aorta: PMID:24260297|REF_RGD_ID:10041046
18347451 POSTN periostin gene DOID:7693 abdominal aortic aneurysm ISO RGD:1313224 D RGD:9068941 20211008 RGD protein:increased expression:aorta: PMID:24260297|REF_RGD_ID:10041046
18347451 POSTN periostin gene DOID:783 end stage renal disease ISO RGD:1305285 D RGD:9068941 20211008 RGD mRNA,protein:increased expression,increased secretion:kidney,urine: PMID:22167593|REF_RGD_ID:10040972
18347451 POSTN periostin gene DOID:784 chronic kidney disease ISO RGD:1313223 D RGD:9068941 20211008 RGD protein:increased expression:kidney: PMID:22403621|REF_RGD_ID:10041032
18347451 POSTN periostin gene DOID:784 chronic kidney disease ISO RGD:1313223 D RGD:9068941 20211008 RGD protein:increased secretion:urine: PMID:22167593|REF_RGD_ID:10040972
18347451 POSTN periostin gene DOID:824 periodontitis ISO RGD:1305285 D RGD:9068941 20211008 RGD protein:decreased expression:mandible: PMID:24212842|REF_RGD_ID:10041024
18347451 POSTN periostin gene DOID:90 degenerative disc disease ISO RGD:1305285 D RGD:9068941 20211008 RGD protein:increased expression:tail intervertebral disc: PMID:23453657|REF_RGD_ID:10040995
18347451 POSTN periostin gene DOID:90 degenerative disc disease ISO RGD:1313223 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:nucleus pulposus: PMID:23453657|REF_RGD_ID:10040995
18347451 POSTN periostin gene DOID:9001600 Wounds and Injuries ISO RGD:1305285 D RGD:9068941 20211008 RGD protein:increased expression:skin: PMID:22681660|REF_RGD_ID:10040991
18347451 POSTN periostin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1313224 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:kidney: PMID:22167593|REF_RGD_ID:10040972
18347451 POSTN periostin gene DOID:9003234 Hypertensive Nephropathy disease_progression ISO RGD:1305285 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:kidney: PMID:22403621|REF_RGD_ID:10041032
18347451 POSTN periostin gene DOID:9003936 Cardiomegaly severity ISO RGD:1305285 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:left ventricle: PMID:16414453|REF_RGD_ID:10040951
18347451 POSTN periostin gene DOID:9004498 Cumulative Trauma Disorders ISO RGD:1305285 D RGD:9068941 20211008 RGD protein:increased expression:tendon,muscle,nerve: PMID:19620321|REF_RGD_ID:10040958
18347451 POSTN periostin gene DOID:9006182 Carotid Artery Injuries ISO RGD:1305285 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:artery: PMID:15514205|REF_RGD_ID:10040973
18347451 POSTN periostin gene DOID:9006928 Viral Bronchiolitis ISO RGD:1313223 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:nasal mucus PMID:28471975|REF_RGD_ID:38596342
18347451 POSTN periostin gene DOID:9007039 Ventricular Dysfunction ISO RGD:1305285 D RGD:9068941 20211008 RGD PMID:15381649|REF_RGD_ID:10040999
18347451 POSTN periostin gene DOID:9007621 Craniocerebral Trauma ISO RGD:1305285 D RGD:9068941 20211008 RGD PMID:17878602|REF_RGD_ID:10041014
18347451 POSTN periostin gene DOID:9008331 Tendon Injuries ISO RGD:1305285 D RGD:9068941 20211008 RGD protein:increased expression:achilles tendon: PMID:23149902|REF_RGD_ID:10041033
18347451 POSTN periostin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313223 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15731169
18347451 POSTN periostin gene DOID:9008763 Femoral Fractures ISO RGD:1305285 D RGD:9068941 20211008 RGD mRNA,protein:increased expression:bone: PMID:19006175|REF_RGD_ID:10040956
18347451 POSTN periostin gene DOID:971 tendinitis ISO RGD:1305285 D RGD:9068941 20211008 RGD protein:increased expression:peritendon: PMID:19743505|REF_RGD_ID:2314473
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:0050579 glycogen storage disease XV ISO RGD:1354000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:0050830 peripheral artery disease ISO RGD:1354000 D RGD:9068941 20211008 RGD PMID:14662702|REF_RGD_ID:1580188
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:0060692 platelet-type bleeding disorder 8 ISO RGD:1354000 D RGD:7240710 20200205 OMIM
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:0060692 platelet-type bleeding disorder 8 ISO RGD:1354000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: P2RY12-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 PMID:11196645|PMID:12578987|PMID:20966167|PMID:25741868|PMID:28492532|PMID:29117459|PMID:31064749|PMID:32100410|PMID:7706468
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:0060903 thrombosis ISO RGD:1354000 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:17334511
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:0060903 thrombosis ISO RGD:621681 D RGD:9068941 20211008 RGD PMID:19692114|REF_RGD_ID:6480647
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:0060903 thrombosis ISO RGD:733568 D RGD:9068941 20211008 RGD PMID:12897207|REF_RGD_ID:1580187
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:1059 intellectual disability ISO RGD:1354000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31155615
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:1588 thrombocytopenia ISO RGD:733568 D RGD:9068941 20211008 RGD associated with Thrombosis PMID:21652673|REF_RGD_ID:6480523
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:2213 hemorrhagic disease ISO RGD:1354000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:2349 arteriosclerosis ISO RGD:733568 D RGD:9068941 20211008 RGD PMID:19295309|REF_RGD_ID:6480535
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:2841 asthma ISO RGD:1354000 D RGD:9068941 20211008 RGD PMID:22010907|REF_RGD_ID:6480532
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:2841 asthma ISO RGD:733568 D RGD:9068941 20211008 RGD PMID:19822647|REF_RGD_ID:6480533
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:5844 myocardial infarction ISO RGD:1354000 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19334620
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:630 genetic disease ISO RGD:1354000 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:6713 cerebrovascular disease ISO RGD:1354000 D RGD:9068941 20211008 RGD associated with Peripheral Arterial Disease;DNA:polymorphism:exon:34C>T (human) PMID:15933261|REF_RGD_ID:1580189
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:7693 abdominal aortic aneurysm ISO RGD:621681 D RGD:9068941 20211008 RGD PMID:19028049|REF_RGD_ID:6480528
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1354000 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: MED12L-related condition | ClinVar Annotator: match by term: Nizon-Isidor syndrome PMID:25741868|PMID:31155615|PMID:35802134
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:9002211 Hyperalgesia ISO RGD:621681 D RGD:9068941 20211008 RGD PMID:20136836|REF_RGD_ID:6480526
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:9002211 Hyperalgesia ISO RGD:733568 D RGD:9068941 20211008 RGD PMID:20398327|REF_RGD_ID:6480525
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:9002457 Experimental Arthritis ISO RGD:621681 D RGD:9068941 20211008 RGD PMID:22028806|REF_RGD_ID:6480518
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:9004610 Acute Lung Injury ISO RGD:621681 D RGD:9068941 20211008 RGD associated with Shock, Hemorrhagic PMID:21841533|REF_RGD_ID:6480522
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:9005968 Neuralgia ISO RGD:621681 D RGD:9068941 20211008 RGD PMID:20665560|REF_RGD_ID:6480524
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1354000 D RGD:9068941 20211008 RGD PMID:20431845|REF_RGD_ID:6480645
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:9008217 Hemorrhage ISO RGD:1354000 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:11196645
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:9008582 Developmental Disease ISO RGD:1354000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1354000 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15304052
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1354000 D RGD:9068941 20211008 RGD PMID:15304052|REF_RGD_ID:6480537
18347496 P2RY12 purinergic receptor P2Y12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1354000 D RGD:9068941 20211008 RGD PMID:15483100|REF_RGD_ID:6480536
18347533 PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1314035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532
18347548 CUNH10orf53 chromosome unknown C10orf53 homolog gene DOID:0080908 Cockayne syndrome B ISO RGD:1345709 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Cockayne Syndrome, Type II PMID:25741868|PMID:38177409
18347548 CUNH10orf53 chromosome unknown C10orf53 homolog gene DOID:11372 megacolon ISO RGD:1345709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
18347548 CUNH10orf53 chromosome unknown C10orf53 homolog gene DOID:5419 schizophrenia ISO RGD:1345709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18347559 RPL36AL ribosomal protein L36a like gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733562 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868
18347559 RPL36AL ribosomal protein L36a like gene DOID:9562 primary ciliary dyskinesia ISO RGD:733562 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532
18347565 ITPK1 inositol-tetrakisphosphate 1-kinase gene DOID:0080054 achondrogenesis type IA ISO RGD:1312967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532
18347565 ITPK1 inositol-tetrakisphosphate 1-kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1312967 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:26213588
18347593 APIP APAF1 interacting protein gene DOID:1059 intellectual disability ISO RGD:1603043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18347593 APIP APAF1 interacting protein gene DOID:9003678 Pyruvate Dehydrogenase E3-Binding Protein Deficiency ISO RGD:1603043 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency PMID:25741868
18347638 MTMR10 myotubularin related protein 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545
18347638 MTMR10 myotubularin related protein 10 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1606536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835
18347638 MTMR10 myotubularin related protein 10 gene DOID:0060911 karyomegalic interstitial nephritis ISO RGD:1606536 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: FAN1-related condition | ClinVar Annotator: match by term: Karyomegalic interstitial nephritis PMID:16678356|PMID:17304531|PMID:20621605|PMID:20670886|PMID:22772369|PMID:25741868|PMID:27196444|PMID:28492532|PMID:30773290|PMID:32111193|PMID:32220227|PMID:34386670|PMID:7847351
18347638 MTMR10 myotubularin related protein 10 gene DOID:12849 autistic disorder ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18347638 MTMR10 myotubularin related protein 10 gene DOID:5419 schizophrenia ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18347638 MTMR10 myotubularin related protein 10 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868
18347638 MTMR10 myotubularin related protein 10 gene DOID:630 genetic disease ISO RGD:1606536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532
18347638 MTMR10 myotubularin related protein 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18347638 MTMR10 myotubularin related protein 10 gene DOID:9256 colorectal cancer ISO RGD:1606536 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532
18347663 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1349068 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:24728327|PMID:25741868|PMID:28492532
18347663 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:0080745 polymyositis ISO RGD:1349068 D RGD:9068941 20211008 RGD PMID:15856462|REF_RGD_ID:2324870
18347663 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:0111944 immunodeficiency 31B ISO RGD:1349068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532
18347663 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:10223 dermatomyositis ISO RGD:1349068 D RGD:9068941 20211008 RGD PMID:15856462|REF_RGD_ID:2324870
18347663 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1349068 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: PMS1-related breast cancer PMID:24728327|PMID:25741868
18347663 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:2394 ovarian cancer ISO RGD:1349068 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868
18347663 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349068 D RGD:9068941 20211008 RGD protein:increased expression:pancreatic duct PMID:15856462|REF_RGD_ID:2324870
18347663 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Lynch syndrome PMID:25741868
18347663 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24728327|PMID:25741868
18347663 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349068 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29610475
18347663 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:9004271 Colonic Polyps ISO RGD:1349068 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:25637381|PMID:25741868
18347663 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18347663 PMS1 PMS1 homolog 1, mismatch repair system component gene DOID:9256 colorectal cancer ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer
18347716 GLP1R glucagon like peptide 1 receptor gene DOID:10603 glucose intolerance susceptibility ISO RGD:10655 D RGD:9068941 20211008 RGD PMID:8898756|REF_RGD_ID:1624349
18347716 GLP1R glucagon like peptide 1 receptor gene DOID:10763 hypertension ISO RGD:2703 D RGD:9068941 20211008 RGD PMID:12093887|REF_RGD_ID:625448
18347716 GLP1R glucagon like peptide 1 receptor gene DOID:10763 hypertension ISO RGD:736638 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22228705
18347716 GLP1R glucagon like peptide 1 receptor gene DOID:14566 disease of cellular proliferation ISO RGD:736638 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23471186
18347716 GLP1R glucagon like peptide 1 receptor gene DOID:1824 status epilepticus ISO RGD:10655 D RGD:9068941 20211008 RGD PMID:12925848|REF_RGD_ID:1598440
18347716 GLP1R glucagon like peptide 1 receptor gene DOID:4195 hyperglycemia ISO RGD:2703 D RGD:9068941 20211008 RGD PMID:15879053|REF_RGD_ID:1624350
18347716 GLP1R glucagon like peptide 1 receptor gene DOID:9002221 Hyperplasia ISO RGD:736638 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23471186
18347716 GLP1R glucagon like peptide 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2703 D RGD:9068941 20211008 RGD PMID:10580413|REF_RGD_ID:1624356
18347716 GLP1R glucagon like peptide 1 receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:736638 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:30718926
18347716 GLP1R glucagon like peptide 1 receptor gene DOID:9970 obesity ISO RGD:2703 D RGD:9068941 20211008 RGD mRNA:decreased expression:hypothalamus medial zone PMID:15279492|REF_RGD_ID:1624351
18347716 GLP1R glucagon like peptide 1 receptor gene DOID:9970 obesity ISO RGD:736638 D RGD:9068941 20240502 RGD DNA:SNP:intron (rs2268641) (human) PMID:23900445|REF_RGD_ID:405650675
18347780 TMEM239 transmembrane protein 239 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:5488169 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532
18347780 TMEM239 transmembrane protein 239 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:5488169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532
18347796 RCN2 reticulocalbin 2 gene DOID:0080519 PAPA syndrome ISO RGD:733014 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial recurrent arthritis PMID:28492532
18347796 RCN2 reticulocalbin 2 gene DOID:2717 Bloom syndrome ISO RGD:733014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532
18347796 RCN2 reticulocalbin 2 gene DOID:5419 schizophrenia ISO RGD:733014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18347796 RCN2 reticulocalbin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733014 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
18347796 RCN2 reticulocalbin 2 gene DOID:9256 colorectal cancer ISO RGD:733014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532
18347806 COA5 cytochrome c oxidase assembly factor 5 gene DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 ISO RGD:1604134 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism
18347806 COA5 cytochrome c oxidase assembly factor 5 gene DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 ISO RGD:1604134 D RGD:7240710 20200205 OMIM
18347806 COA5 cytochrome c oxidase assembly factor 5 gene DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 ISO RGD:1604134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 PMID:21457908
18347813 NOL8 nucleolar protein 8 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1319952 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532
18347813 NOL8 nucleolar protein 8 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1319952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532
18347813 NOL8 nucleolar protein 8 gene DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A ISO RGD:1319952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532
18347813 NOL8 nucleolar protein 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319952 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:30125550
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:732948 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:732948 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:732948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:1059 intellectual disability ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:11198 DiGeorge syndrome ISO RGD:732948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:11372 megacolon ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:732948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:12849 autistic disorder ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:1682 congenital heart disease ISO RGD:732948 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10024240
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:1826 epilepsy ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:5419 schizophrenia ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:612 primary immunodeficiency disease ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:732948 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532
18347887 UFD1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732948 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:10024240
18347906 RPE ribulose-5-phosphate-3-epimerase gene DOID:14557 primary pulmonary hypertension ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138
18347906 RPE ribulose-5-phosphate-3-epimerase gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868
18347906 RPE ribulose-5-phosphate-3-epimerase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18347938 SLC9A7 solute carrier family 9 member A7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868
18347938 SLC9A7 solute carrier family 9 member A7 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532
18347938 SLC9A7 solute carrier family 9 member A7 gene DOID:0111844 X-linked intellectual developmental disorder 108 ISO RGD:1350922 D RGD:7240710 20200205 OMIM
18347938 SLC9A7 solute carrier family 9 member A7 gene DOID:0111844 X-linked intellectual developmental disorder 108 ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 108 | ClinVar Annotator: match by term: SLC9A7-related condition PMID:25741868|PMID:28492532|PMID:30335141
18347938 SLC9A7 solute carrier family 9 member A7 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532
18347938 SLC9A7 solute carrier family 9 member A7 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350922 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
18347938 SLC9A7 solute carrier family 9 member A7 gene DOID:12849 autistic disorder ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18347938 SLC9A7 solute carrier family 9 member A7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868
18347938 SLC9A7 solute carrier family 9 member A7 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376
18347960 LPAR5 lysophosphatidic acid receptor 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1348840 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532
18347960 LPAR5 lysophosphatidic acid receptor 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1348840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532
18347960 LPAR5 lysophosphatidic acid receptor 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1348840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532
18347960 LPAR5 lysophosphatidic acid receptor 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098
18347986 NCDN neurochondrin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532
18347986 NCDN neurochondrin gene DOID:0111358 Floating-Harbor syndrome ISO RGD:734133 D RGD:8554872 20241217 ClinVar ClinVar Annotator: match by term: Floating-Harbor syndrome PMID:25741868
18347986 NCDN neurochondrin gene DOID:9005816 NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS ISO RGD:734133 D RGD:7240710 20220216 OMIM
18347986 NCDN neurochondrin gene DOID:9005816 NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with infantile epileptic spasms PMID:25741868|PMID:33711248
18348008 PLEKHF1 pleckstrin homology and FYVE domain containing 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321508 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:21397856
18348032 ZBED9 zinc finger BED-type containing 9 gene DOID:11372 megacolon ISO RGD:1351610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
18348050 THAP11 THAP domain containing 11 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1321070 D RGD:9068941 20220825 MouseDO OMIM:277400
18348050 THAP11 THAP domain containing 11 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532
18348050 THAP11 THAP domain containing 11 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1321069 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:25741868|PMID:28449119|PMID:31905202
18348050 THAP11 THAP domain containing 11 gene DOID:655 inherited metabolic disorder ISO RGD:1321069 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:25741868|PMID:28449119|PMID:31905202
18348050 THAP11 THAP domain containing 11 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1321069 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868
18348050 THAP11 THAP domain containing 11 gene DOID:9009144 Methylmalonic Aciduria and Homocystinuria, cblL Type ISO RGD:1321069 D RGD:7240710 20240925 OMIM
18348050 THAP11 THAP domain containing 11 gene DOID:9009144 Methylmalonic Aciduria and Homocystinuria, cblL Type ISO RGD:1321069 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblL TYPE PMID:25741868|PMID:28449119|PMID:31905202
18348050 THAP11 THAP domain containing 11 gene DOID:9009177 Spinocerebellar Ataxia 51 ISO RGD:1321069 D RGD:7240710 20240925 OMIM
18348069 HOOK1 hook microtubule tethering protein 1 gene DOID:1059 intellectual disability ISO RGD:1320626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868
18348101 CDC27 cell division cycle 27 gene DOID:10485 esophageal atresia ISO RGD:1312639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia
18348101 CDC27 cell division cycle 27 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1312639 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859
18348101 CDC27 cell division cycle 27 gene DOID:684 hepatocellular carcinoma ISO RGD:1312639 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma
18348101 CDC27 cell division cycle 27 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312639 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:29610475
18348101 CDC27 cell division cycle 27 gene DOID:9007098 Pulmonary Atresia ISO RGD:1312639 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia
18348148 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:0060224 atrial fibrillation ISO RGD:737078 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28416822|PMID:29892015|PMID:30061737
18348148 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:737078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532
18348148 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:1540 parathyroid carcinoma ISO RGD:737078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18348148 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737078 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532
18348148 PPFIA4 PTPRF interacting protein alpha 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18348191 IVL involucrin gene DOID:0111940 immunodeficiency 42 ISO RGD:1314662 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
18348191 IVL involucrin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532
18348191 IVL involucrin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532
18348191 IVL involucrin gene DOID:1540 parathyroid carcinoma ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18348191 IVL involucrin gene DOID:1749 squamous cell carcinoma ISO RGD:1314662 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18572023
18348191 IVL involucrin gene DOID:5812 MHC class II deficiency ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532
18348191 IVL involucrin gene DOID:9004464 Skin Neoplasms ISO RGD:1314662 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18572023
18348191 IVL involucrin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18348215 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:8445 intestinal volvulus ISO RGD:1320757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868
18348215 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:9008386 Hydrops Fetalis ISO RGD:1320757 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:26036949
18348215 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868
18348248 PRMT3 protein arginine methyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1604394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18348248 PRMT3 protein arginine methyltransferase 3 gene DOID:2841 asthma ISO RGD:620413 D RGD:9068941 20211008 RGD mRNA:increased expression:lung PMID:20423833|REF_RGD_ID:9491823
18348271 LINC02875 long intergenic non-protein coding RNA 2875 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1601914 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532
18348271 LINC02875 long intergenic non-protein coding RNA 2875 gene DOID:11372 megacolon ISO RGD:1601914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106
18348282 UBE3C ubiquitin protein ligase E3C gene DOID:0110875 holoprosencephaly 3 ISO RGD:1348358 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110
18348282 UBE3C ubiquitin protein ligase E3C gene DOID:12849 autistic disorder ISO RGD:1348358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311
18348282 UBE3C ubiquitin protein ligase E3C gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348358 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19565504
18348282 UBE3C ubiquitin protein ligase E3C gene DOID:9006574 NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:1348358 D RGD:7240710 20230505 OMIM
18348282 UBE3C ubiquitin protein ligase E3C gene DOID:9006574 NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:1348358 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities PMID:25741868|PMID:36401616
18348322 ANAPC15 anaphase promoting complex subunit 15 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1601769 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:25741868
18348322 ANAPC15 anaphase promoting complex subunit 15 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1601769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532
18348322 ANAPC15 anaphase promoting complex subunit 15 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1601769 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532
18348322 ANAPC15 anaphase promoting complex subunit 15 gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:1601769 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 63 | ClinVar Annotator: match by term: LRTOMT-related condition PMID:24033266|PMID:25741868|PMID:25788562|PMID:26467025|PMID:28492532
18348322 ANAPC15 anaphase promoting complex subunit 15 gene DOID:1059 intellectual disability ISO RGD:1601769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability
18348322 ANAPC15 anaphase promoting complex subunit 15 gene DOID:630 genetic disease ISO RGD:1601769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532
18348322 ANAPC15 anaphase promoting complex subunit 15 gene DOID:9004538 Hearing Loss ISO RGD:1601769 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:25741868
18348350 ZP2 zona pellucida glycoprotein 2 gene DOID:9001599 Oocyte/Zygote/Embryo Maturation Arrest 6 ISO RGD:735363 D RGD:7240710 20200205 OMIM
18348350 ZP2 zona pellucida glycoprotein 2 gene DOID:9001599 Oocyte/Zygote/Embryo Maturation Arrest 6 ISO RGD:735363 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 6 | ClinVar Annotator: match by term: ZP2-related condition PMID:25741868|PMID:28492532|PMID:28971300|PMID:29895852|PMID:30810869|PMID:35211729
18348373 BCHE butyrylcholinesterase gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:16884476
18348373 BCHE butyrylcholinesterase gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:732174 D RGD:9068941 20211008 RGD PMID:20122907|REF_RGD_ID:5687690
18348373 BCHE butyrylcholinesterase gene DOID:0050847 sleep apnea ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18555211
18348373 BCHE butyrylcholinesterase gene DOID:0060041 autism spectrum disorder ISO RGD:732174 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546
18348373 BCHE butyrylcholinesterase gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:732175 D RGD:9068941 20211008 RGD PMID:12383920|REF_RGD_ID:5688132
18348373 BCHE butyrylcholinesterase gene DOID:10113 trypanosomiasis ISO RGD:619996 D RGD:9068941 20211008 RGD protein:decreased expression:plasma PMID:20138875|REF_RGD_ID:5687328
18348373 BCHE butyrylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23022600
18348373 BCHE butyrylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:732174 D RGD:9068941 20211008 RGD PMID:22012848|REF_RGD_ID:5687327
18348373 BCHE butyrylcholinesterase gene DOID:10652 Alzheimer's disease severity ISO RGD:732174 D RGD:9068941 20211008 RGD PMID:16973370|REF_RGD_ID:5688056
18348373 BCHE butyrylcholinesterase gene DOID:10763 hypertension ISO RGD:732174 D RGD:9068941 20211008 RGD PMID:12387587|REF_RGD_ID:1601322
18348373 BCHE butyrylcholinesterase gene DOID:10914 amnestic disorder ISO RGD:619996 D RGD:9068941 20211008 RGD PMID:21771623|REF_RGD_ID:5688134
18348373 BCHE butyrylcholinesterase gene DOID:1168 familial hyperlipidemia ISO RGD:732174 D RGD:9068941 20211008 RGD protein:increased expression:serum PMID:15219807|REF_RGD_ID:1601321
18348373 BCHE butyrylcholinesterase gene DOID:12858 Huntington's disease ISO RGD:732174 D RGD:9068941 20211008 RGD protein:decreased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127
18348373 BCHE butyrylcholinesterase gene DOID:1307 dementia ISO RGD:732174 D RGD:9068941 20211008 RGD associated with Parkinson Disease;protein:increased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127
18348373 BCHE butyrylcholinesterase gene DOID:13548 secondary Parkinson disease ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:30410011
18348373 BCHE butyrylcholinesterase gene DOID:1561 cognitive disorder ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12003252|PMID:20513442
18348373 BCHE butyrylcholinesterase gene DOID:1826 epilepsy ISO RGD:732174 D RGD:9068941 20211008 RGD PMID:7634486|REF_RGD_ID:5688133
18348373 BCHE butyrylcholinesterase gene DOID:2297 leptospirosis ISO RGD:619996 D RGD:9068941 20211008 RGD protein:increased expression:serum PMID:21921108|REF_RGD_ID:5688128
18348373 BCHE butyrylcholinesterase gene DOID:2377 multiple sclerosis ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:20122907
18348373 BCHE butyrylcholinesterase gene DOID:3068 glioblastoma ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:2317787
18348373 BCHE butyrylcholinesterase gene DOID:3393 coronary artery disease susceptibility ISO RGD:732174 D RGD:9068941 20211008 RGD DNA:polymorphism: :p.A539T (human) PMID:17852836|REF_RGD_ID:2306777
18348373 BCHE butyrylcholinesterase gene DOID:3602 toxic encephalopathy ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:21620937
18348373 BCHE butyrylcholinesterase gene DOID:4247 coronary restenosis susceptibility ISO RGD:732174 D RGD:9068941 20211008 RGD DNA:polymorphism: :p.A539T (human) PMID:17275003|REF_RGD_ID:2306778
18348373 BCHE butyrylcholinesterase gene DOID:4450 renal cell carcinoma ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:18482720
18348373 BCHE butyrylcholinesterase gene DOID:5419 schizophrenia ISO RGD:732174 D RGD:9068941 20211008 RGD protein:increased expression:plasma PMID:22123563|REF_RGD_ID:5687326
18348373 BCHE butyrylcholinesterase gene DOID:543 dystonia ISO RGD:732174 D RGD:9068941 20211008 RGD protein:increased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127
18348373 BCHE butyrylcholinesterase gene DOID:630 genetic disease ISO RGD:732174 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18348373 BCHE butyrylcholinesterase gene DOID:655 inherited metabolic disorder susceptibility ISO RGD:732174 D RGD:9068941 20211008 RGD butyrylcholinesterase deficiency;DNA:missense mutation: :p.A199V PMID:9694584|REF_RGD_ID:1601328
18348373 BCHE butyrylcholinesterase gene DOID:769 neuroblastoma ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:2317787
18348373 BCHE butyrylcholinesterase gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:15121994
18348373 BCHE butyrylcholinesterase gene DOID:809 cocaine abuse severity ISO RGD:732175 D RGD:9068941 20240201 RGD PMID:21540357|REF_RGD_ID:401960084
18348373 BCHE butyrylcholinesterase gene DOID:9000046 Poisoning ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:20176007|PMID:20513442|PMID:21620937|PMID:21683774|PMID:29183815
18348373 BCHE butyrylcholinesterase gene DOID:9000441 Butyrylcholinesterase Deficiency ISO RGD:732174 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: BCHE, H variant | ClinVar Annotator: match by term: BCHE, J variant | ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase | ClinVar Annotator: match by term: Postanesthetic apnea | ClinVar Annotator: match by term: Pseudocholinesterase E1 deficiency | ClinVar Annotator: match by term: Pseudocholinesterase deficiency PMID:10190327|PMID:10404729|PMID:10446378|PMID:10699053|PMID:11163024|PMID:11575530|PMID:11733654|PMID:12417112|PMID:1271425|PMID:12724618|PMID:12881446|PMID:1306123|PMID:13437188|PMID:13479831|PMID:1349196|PMID:13711731|PMID:1415224|PMID:14404182|PMID:15563885|PMID:15731589|PMID:15781196|PMID:1611188|PMID:16434405|PMID:1662391|PMID:16788378|PMID:17166756|PMID:17700357|PMID:18075469|PMID:18165570|PMID:18300943|PMID:18555211|PMID:2013061|PMID:20589221|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:22378569|PMID:2253336|PMID:22750491|PMID:23123771|PMID:24033266|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25525159|PMID:25741868|PMID:27031121|PMID:27109752|PMID:27551784|PMID:28492532|PMID:2915989|PMID:3169798|PMID:31980526|PMID:33010031|PMID:33024248|PMID:3542989|PMID:416211|PMID:6716425|PMID:7618741|PMID:7634491|PMID:8314794|PMID:8554068|PMID:8601326|PMID:8680411|PMID:9047329|PMID:9058093|PMID:9110359|PMID:9187502|PMID:9191541|PMID:9302273|PMID:9388484|PMID:9543549
18348373 BCHE butyrylcholinesterase gene DOID:9000441 Butyrylcholinesterase Deficiency susceptibility ISO RGD:732174 D RGD:7240710 20250129 OMIM
18348373 BCHE butyrylcholinesterase gene DOID:9000459 Acholinesterasemia ISO RGD:732174 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Acholinesterasemia PMID:10190327|PMID:10404729|PMID:10446378|PMID:10699053|PMID:11163024|PMID:11575530|PMID:11733654|PMID:12417112|PMID:12724618|PMID:12881446|PMID:13437188|PMID:13479831|PMID:1349196|PMID:13711731|PMID:1415224|PMID:14404182|PMID:15563885|PMID:15731589|PMID:15781196|PMID:1611188|PMID:16434405|PMID:1662391|PMID:16788378|PMID:17166756|PMID:17700357|PMID:18075469|PMID:18165570|PMID:18300943|PMID:18555211|PMID:2013061|PMID:20589221|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:22378569|PMID:2253336|PMID:22750491|PMID:23123771|PMID:24033266|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25525159|PMID:25741868|PMID:27031121|PMID:27109752|PMID:27551784|PMID:28492532|PMID:2915989|PMID:31980526|PMID:33010031|PMID:33024248|PMID:3542989|PMID:416211|PMID:6716425|PMID:7618741|PMID:7634491|PMID:8314794|PMID:8554068|PMID:8601326|PMID:8680411|PMID:9047329|PMID:9058093|PMID:9110359|PMID:9187502|PMID:9191541|PMID:9302273|PMID:9388484|PMID:9543549
18348373 BCHE butyrylcholinesterase gene DOID:9000543 Death ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:18597747
18348373 BCHE butyrylcholinesterase gene DOID:9000790 Postoperative Complications ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:6039104
18348373 BCHE butyrylcholinesterase gene DOID:9001745 Fasciculation ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:6465587
18348373 BCHE butyrylcholinesterase gene DOID:9002079 Paresis ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:2249680
18348373 BCHE butyrylcholinesterase gene DOID:9002362 Hyperkinesis ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:12019200
18348373 BCHE butyrylcholinesterase gene DOID:9002371 Cardiotoxicity ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:26145887
18348373 BCHE butyrylcholinesterase gene DOID:9002554 Tachycardia ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:18597747
18348373 BCHE butyrylcholinesterase gene DOID:9004802 Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type ISO RGD:732174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type PMID:10404729|PMID:12417112|PMID:8680411|PMID:9191541|PMID:9388484
18348373 BCHE butyrylcholinesterase gene DOID:9004992 Apnea ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1058931|PMID:12392308|PMID:12881446|PMID:15826794|PMID:1734774|PMID:21029050|PMID:25054547|PMID:38703|PMID:4319258|PMID:4347326|PMID:4698763|PMID:4728581|PMID:4746059|PMID:4850696|PMID:4959505|PMID:4998912|PMID:5365519|PMID:5412891|PMID:5488351|PMID:5667302|PMID:6039104|PMID:6465587|PMID:6859614|PMID:6928942|PMID:7069741|PMID:726855|PMID:7378868|PMID:7788839|PMID:7793179|PMID:900467|PMID:987736
18348373 BCHE butyrylcholinesterase gene DOID:9005246 Paralysis ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:1218179|PMID:122883|PMID:1734774|PMID:21228368|PMID:4319258|PMID:4347326|PMID:4362560|PMID:4728581|PMID:5021954|PMID:910611
18348373 BCHE butyrylcholinesterase gene DOID:9005292 Organophosphate Poisoning ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22981459|PMID:22982776|PMID:23044488|PMID:23123253|PMID:23178380|PMID:23220586|PMID:26239905|PMID:31201777
18348373 BCHE butyrylcholinesterase gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: therapeutic PMID:18292872|PMID:18514640|PMID:20060817|PMID:20971807|PMID:22935511|PMID:22960160|PMID:23000451|PMID:25814464
18348373 BCHE butyrylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619996 D RGD:9068941 20211008 RGD PMID:12379509|PMID:16187484|REF_RGD_ID:1599458|REF_RGD_ID:2306781
18348373 BCHE butyrylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619996 D RGD:9068941 20211008 RGD protein:decreased expression:retina PMID:11478742|REF_RGD_ID:2306783
18348373 BCHE butyrylcholinesterase gene DOID:9005832 Amyloid Plaques ISO RGD:732175 D RGD:9068941 20211008 RGD PMID:22157615|REF_RGD_ID:5687325
18348373 BCHE butyrylcholinesterase gene DOID:9005930 Endotoxemia ISO RGD:732174 D RGD:9068941 20211008 RGD PMID:17657467|REF_RGD_ID:5688055
18348373 BCHE butyrylcholinesterase gene DOID:9006588 Trismus ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:7378868
18348373 BCHE butyrylcholinesterase gene DOID:9006599 Hypertriglyceridemia ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23000450
18348373 BCHE butyrylcholinesterase gene DOID:9006599 Hypertriglyceridemia ISO RGD:732174 D RGD:9068941 20211008 RGD associated with diabetes mellitus PMID:8149699|REF_RGD_ID:1601335
18348373 BCHE butyrylcholinesterase gene DOID:9006646 Metabolic Syndrome ISO RGD:732174 D RGD:9068941 20211008 RGD protein:increased expression:serum PMID:15907830|REF_RGD_ID:1601317
18348373 BCHE butyrylcholinesterase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:3111302
18348373 BCHE butyrylcholinesterase gene DOID:9007096 Stroke ISO RGD:732174 D RGD:9068941 20211008 RGD protein:increased expression:serum PMID:20464061|REF_RGD_ID:5688131
18348373 BCHE butyrylcholinesterase gene DOID:9007692 Insulin Resistance ISO RGD:732174 D RGD:9068941 20211008 RGD PMID:17917325|REF_RGD_ID:2306776
18348373 BCHE butyrylcholinesterase gene DOID:9008939 Breast Neoplasms ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:23063927
18348373 BCHE butyrylcholinesterase gene DOID:9279 hyperhomocysteinemia ISO RGD:619996 D RGD:9068941 20211008 RGD Protein:increased expression:serum PMID:16442260|REF_RGD_ID:1599454
18348373 BCHE butyrylcholinesterase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732174 D RGD:9068941 20211008 RGD PMID:16442234|REF_RGD_ID:2306780
18348373 BCHE butyrylcholinesterase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732174 D RGD:9068941 20211008 RGD DNA:polymorphism: :p.A539T (human) PMID:11793025|REF_RGD_ID:2306782
18348373 BCHE butyrylcholinesterase gene DOID:9470 bacterial meningitis ISO RGD:732174 D RGD:9068941 20211008 RGD protein:increased expression:blood PMID:21303225|REF_RGD_ID:5688130
18348373 BCHE butyrylcholinesterase gene DOID:9505 cannabis abuse ISO RGD:732174 D RGD:9068941 20240201 RGD protein:increased activity:blood plasma (human) PMID:30707402|REF_RGD_ID:401960085
18348373 BCHE butyrylcholinesterase gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:732174 D RGD:9068941 20211008 RGD DNA:polymorphism: :p.A539T (human) PMID:17026497|REF_RGD_ID:2306779
18348373 BCHE butyrylcholinesterase gene DOID:9884 muscular dystrophy ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:22906800
18348373 BCHE butyrylcholinesterase gene DOID:9970 obesity ISO RGD:732174 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18452903|PMID:23000450|PMID:23073171|PMID:27163854
18348373 BCHE butyrylcholinesterase gene DOID:9976 heroin dependence ISO RGD:732174 D RGD:9068941 20240201 RGD protein:increased activity:blood plasma (human) PMID:30707402|REF_RGD_ID:401960085
18348387 PSMB8 proteasome 20S subunit beta 8 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:731895 D RGD:7240710 20200205 OMIM
18348387 PSMB8 proteasome 20S subunit beta 8 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:731895 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: PSMB8-related condition | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:20159315|PMID:20534754|PMID:21129723|PMID:21881205|PMID:21953331|PMID:24033266|PMID:25741868|PMID:26524591|PMID:28492532|PMID:37600812|PMID:8495043
18348387 PSMB8 proteasome 20S subunit beta 8 gene DOID:0060009 MHC class I deficiency ISO RGD:731895 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: MHC class I deficiency PMID:11529920|PMID:12067308|PMID:23662797|PMID:28492532|PMID:7517574
18348387 PSMB8 proteasome 20S subunit beta 8 gene DOID:0060913 proteosome-associated autoinflammatory syndrome ISO RGD:731895 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Proteosome-associated autoinflammatory syndrome PMID:11529920|PMID:12067308|PMID:16199547|PMID:20159315|PMID:20534754|PMID:21129723|PMID:21953331|PMID:23662797|PMID:23768303|PMID:24033266|PMID:25741868|PMID:26524591|PMID:28492532|PMID:28895430|PMID:7517574
18348387 PSMB8 proteasome 20S subunit beta 8 gene DOID:0080600 COVID-19 ISO RGD:731895 D RGD:9068941 20211008 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672
18348387 PSMB8 proteasome 20S subunit beta 8 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:731895 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24033266|PMID:25741868|PMID:26524591|PMID:28492532
18348387 PSMB8 proteasome 20S subunit beta 8 gene DOID:630 genetic disease ISO RGD:731895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18348387 PSMB8 proteasome 20S subunit beta 8 gene DOID:9001174 Nakajo Syndrome ISO RGD:731895 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Nodular erythema digital changes PMID:20159315|PMID:20534754|PMID:21129723|PMID:21953331|PMID:25741868|PMID:26524591|PMID:28492532
18348387 PSMB8 proteasome 20S subunit beta 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731895 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:25380136
18348397 MRPL38 mitochondrial ribosomal protein L38 gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:1322502 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency PMID:28492532
18348404 RPRD1A regulation of nuclear pre-mRNA domain containing 1A gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1605654 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:31690835
18348404 RPRD1A regulation of nuclear pre-mRNA domain containing 1A gene DOID:1059 intellectual disability ISO RGD:1605654 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:0110243 cataract 46 juvenile-onset ISO RGD:1320131 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cataract 46 juvenile-onset PMID:29464339|PMID:31690835
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1320131 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
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320131 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:1793 pancreatic cancer ISO RGD:1320131 D RGD:9068941 20230128 RGD mRNA, protein:decreased expression:pancreas (human) PMID:28351319|REF_RGD_ID:155804299
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:4362 cervical cancer ISO RGD:1320131 D RGD:9068941 20230128 RGD human cells in mouse model PMID:35853859|REF_RGD_ID:155882439
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:4362 cervical cancer severity ISO RGD:1320131 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:cervix (human) PMID:35853859|REF_RGD_ID:155882439
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:5768 Nager acrofacial dysostosis ISO RGD:1320131 D RGD:7240710 20200205 OMIM
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:5768 Nager acrofacial dysostosis ISO RGD:1320131 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Nager syndrome | ClinVar Annotator: match by term: SF3B4-related condition PMID:22541558|PMID:23568615|PMID:24003905|PMID:25741868|PMID:27622494|PMID:28492532
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:5812 MHC class II deficiency ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:630 genetic disease ISO RGD:1320131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22541558|PMID:23568615|PMID:24003905|PMID:25741868|PMID:26228803|PMID:28492532
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1309667 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (rat) PMID:29059470|REF_RGD_ID:155791679
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1320131 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (human) PMID:29059470|REF_RGD_ID:155791679
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1320131 D RGD:9068941 20230128 RGD human cells in mouse model PMID:30391496|REF_RGD_ID:155804298
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1320131 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:liver(human) PMID:30391496|REF_RGD_ID:155804298
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1320132 D RGD:9068941 20230105 RGD PMID:29059470|REF_RGD_ID:155791679
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:9004538 Hearing Loss ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:25741868
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:9005616 Micrognathism ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:9009121 lung metastasis ISO RGD:1320131 D RGD:9068941 20230128 RGD human cells in mouse model PMID:30391496|REF_RGD_ID:155804298
18348418 SF3B4 splicing factor 3b subunit 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18348425 OTUD4 OTU deubiquitinase 4 gene DOID:13938 amenorrhea ISO RGD:1603307 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:32870266
18348498 FBXL18 F-box and leucine rich repeat protein 18 gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:1352891 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 PMID:27633570|PMID:28128450|PMID:28492532|PMID:31898838
18348498 FBXL18 F-box and leucine rich repeat protein 18 gene DOID:684 hepatocellular carcinoma ISO RGD:1352891 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:28284560
18348507 ADCY10 adenylate cyclase 10 gene DOID:0111942 immunodeficiency 25 ISO RGD:737484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532
18348507 ADCY10 adenylate cyclase 10 gene DOID:12336 male infertility ISO RGD:737484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility
18348507 ADCY10 adenylate cyclase 10 gene DOID:1540 parathyroid carcinoma ISO RGD:737484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18348507 ADCY10 adenylate cyclase 10 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:737485 D RGD:9068941 20230429 RGD PMID:29466442|REF_RGD_ID:329337358
18348507 ADCY10 adenylate cyclase 10 gene DOID:9005047 Hypercalciuria, Absorptive, 2 ISO RGD:737484 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria PMID:11932268|PMID:17576681|PMID:25741868|PMID:26787776|PMID:28492532|PMID:9536098
18348507 ADCY10 adenylate cyclase 10 gene DOID:9005047 Hypercalciuria, Absorptive, 2 susceptibility ISO RGD:737484 D RGD:7240710 20200205 OMIM
18348507 ADCY10 adenylate cyclase 10 gene DOID:9008091 Optic Nerve Injuries ISO RGD:708450 D RGD:9068941 20230504 RGD protein:decreased expression:retina PMID:22649251|REF_RGD_ID:329347828
18348507 ADCY10 adenylate cyclase 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18348577 CASQ1 calsequestrin 1 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532
18348577 CASQ1 calsequestrin 1 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532
18348577 CASQ1 calsequestrin 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532
18348577 CASQ1 calsequestrin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532
18348577 CASQ1 calsequestrin 1 gene DOID:423 myopathy ISO RGD:1344349 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:28492532
18348577 CASQ1 calsequestrin 1 gene DOID:630 genetic disease ISO RGD:1344349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532
18348577 CASQ1 calsequestrin 1 gene DOID:8545 malignant hyperthermia ISO RGD:1619288 D RGD:9068941 20230525 RGD PMID:19237502|REF_RGD_ID:329813080
18348577 CASQ1 calsequestrin 1 gene DOID:9002092 Tubular Aggregate Myopathies ISO RGD:1344349 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Myopathy with tubular aggregates PMID:25741868|PMID:29039140
18348577 CASQ1 calsequestrin 1 gene DOID:9005189 Vacuolar Myopathy ISO RGD:1344349 D RGD:7240710 20200205 OMIM
18348577 CASQ1 calsequestrin 1 gene DOID:9005189 Vacuolar Myopathy ISO RGD:1344349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CASQ1-related condition | ClinVar Annotator: match by term: Myopathy, vacuolar, with casq1 aggregates PMID:16714317|PMID:25116801|PMID:25741868|PMID:26136523|PMID:26416891|PMID:28492532
18348577 CASQ1 calsequestrin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1586677 D RGD:9068941 20211008 RGD protein:increased activity:skeletal muscle tissue PMID:11976916|REF_RGD_ID:2314137
18348577 CASQ1 calsequestrin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532
18348577 CASQ1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344349 D RGD:9068941 20211008 RGD DNA:SNP: :rs617698(human) PMID:18269685|REF_RGD_ID:2314133
18348577 CASQ1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344349 D RGD:9068941 20211008 RGD DNA:SNPs: :multiple PMID:15561962|PMID:15561963|REF_RGD_ID:2314135|REF_RGD_ID:2314136
18348577 CASQ1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1344349 D RGD:9068941 20211008 RGD DNA:SNP: :rs2275703(human) PMID:17681849|REF_RGD_ID:2314134
18348592 EXOSC2 exosome component 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315266 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532
18348592 EXOSC2 exosome component 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315266 D RGD:9068941 20211008 CTD CTD Direct Evidence: marker/mechanism PMID:19233941
18348592 EXOSC2 exosome component 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315266 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532
18348592 EXOSC2 exosome component 2 gene DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies ISO RGD:1315266 D RGD:7240710 20200205 OMIM
18348592 EXOSC2 exosome component 2 gene DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies ISO RGD:1315266 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EXOSC2-related condition | ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies PMID:146