Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Congenital Hand Deformities
go back to main search page
Accession:DOID:9004795 term browser browse the term
Definition:Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
Synonyms:exact_synonym: Congenital Hand Deformity
 narrow_synonym: HAND OLIGODACTYLY;   OLIGODACTYLY (HANDS)
 primary_id: MESH:D006228


show annotations for term's descendants           Sort by:
Congenital Hand Deformities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 9:49,925,738...49,958,870
Ensembl chr 9:49,925,755...49,958,300 		JBrowse link
G HOXA13 homeobox A13 ISO hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter RGD PMID:9020844 RGD:1599526 NCBI chr14:40,371,234...40,375,261
Ensembl chr14:40,373,059...40,375,980 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:7920660 NCBI chr  X:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365 		JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G PAX3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561 		JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chr27:19,781,557...19,795,078
Ensembl chr27:19,781,557...19,795,078 		JBrowse link
G SOX9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19639023 NCBI chr 9:8,275,049...8,278,172
Ensembl chr 9:8,275,049...8,278,172 		JBrowse link
G TFAP2B transcription factor AP-2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:10802654 NCBI chr12:18,544,176...18,574,300
Ensembl chr12:18,544,446...18,572,902 		JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
Aarskog syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Aarskog disease | ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:000740980 PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 More... NCBI chr  X:46,194,950...46,239,291
Ensembl chr  X:46,194,735...46,270,701 		JBrowse link
G TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Aarskog disease | ClinVar Annotator: match by term: Aarskog syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:46,189,810...46,194,949
Ensembl chr  X:46,189,870...46,296,966 		JBrowse link
acheiropody term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Acheiropodia OMIM
ClinVar		 PMID:11090342 PMID:24965254 PMID:25741868 PMID:33863876 NCBI chr16:19,295,235...19,442,390
Ensembl chr16:19,296,149...19,442,369 		JBrowse link
Bifid Femur with Monodactylous Ectrodactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 ISO ClinVar Annotator: match by term: Gollop-Wolfgang complex ClinVar PMID:25741868 NCBI chr 9:44,584,022...44,587,177 JBrowse link
G TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 ISO ClinVar Annotator: match by term: Gollop-Wolfgang complex ClinVar PMID:25741868 NCBI chr 9:44,560,962...44,577,418
Ensembl chr 9:44,563,419...44,576,972 		JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDAC4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Brachydactyly syndrome type E ClinVar PMID:10958686 PMID:11486037 PMID:25741868 PMID:33537682 NCBI chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478 		JBrowse link
G HOXD13 homeobox D13 ISO ClinVar Annotator: match by term: Brachydactyly type E1 OMIM
ClinVar		 PMID:8614804 PMID:9207113 PMID:12414828 PMID:15333588 PMID:19075394 More... NCBI chr36:19,901,184...19,903,837 JBrowse link
G PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Brachydactyly type E1 ClinVar PMID:25741868 NCBI chr20:41,905,265...41,924,712
Ensembl chr20:41,905,273...41,925,794 		JBrowse link
brachydactyly type E2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTHLH parathyroid hormone like hormone ISO ClinVar Annotator: match by term: Brachydactyly type E2 | ClinVar Annotator: match by term: PTHLH-related condition OMIM
ClinVar		 PMID:20170896 PMID:25741868 PMID:25801215 PMID:26640227 PMID:26763883 More... NCBI chr27:19,781,557...19,795,078
Ensembl chr27:19,781,557...19,795,078 		JBrowse link
camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRG4 proteoglycan 4 ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | ClinVar Annotator: match by term: PRG4-related condition OMIM
ClinVar		 PMID:10545950 PMID:25741868 PMID:29397575 PMID:31680123 PMID:32860008 NCBI chr 7:19,360,034...19,377,005
Ensembl chr 7:19,364,609...19,376,999 		JBrowse link
G TPR translocated promoter region, nuclear basket protein ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome ClinVar PMID:25741868 PMID:29397575 NCBI chr 7:19,376,951...19,442,368
Ensembl chr 7:19,376,975...19,442,303 		JBrowse link
camptodactyly-tall stature-scoliosis-hearing loss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: CATSHL SYNDROME | ClinVar Annotator: match by term: Camptodactyly, tall stature, and hearing loss syndrome | ClinVar Annotator: match by term: Camptodactyly-tall stature-scoliosis-hearing loss syndrome OMIM
ClinVar		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX1 paired like homeodomain 1 ISO ClinVar Annotator: match by term: Liebenberg syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:23,069,731...23,075,085
Ensembl chr11:23,069,716...23,080,941 		JBrowse link
Catel Manzke syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KYNU kynureninase ISO ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME ClinVar PMID:25741868 PMID:31923704 PMID:33942433 NCBI chr19:45,022,450...45,150,977
Ensembl chr19:45,022,072...45,149,339 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: TGDS-related condition OMIM
ClinVar		 PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chr22:45,384,119...45,400,128
Ensembl chr22:45,384,412...45,400,314 		JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104 		JBrowse link
G KDM8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 6:19,366,813...19,390,082
Ensembl chr 6:19,366,331...19,380,257 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar PMID:18414213 PMID:28512736 NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:24448499 More... NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22726846 More... NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22426308 NCBI chr 9:22,015,402...22,036,424
Ensembl chr 9:22,015,600...22,035,442 		JBrowse link
G SOX11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 PMID:26543203
Coffin-Siris syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar PMID:22426308 PMID:25168959 PMID:25741868 PMID:28492532 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12		 OMIM
ClinVar		 PMID:1724113 PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 More... NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104 		JBrowse link
G ARSL arylsulfatase L ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:7720070 PMID:9863597 PMID:18348268 PMID:20301713 PMID:23470839 More... NCBI chr  X:1,536,341...1,558,782 JBrowse link
G BICRA BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 1:108,344,245...108,427,133 JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:24728327 More... NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		JBrowse link
G SOX4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr35:20,098,783...20,101,357
Ensembl chr35:20,099,773...20,101,154 		JBrowse link
Coffin-Siris syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 10 | ClinVar Annotator: match by term: SOX4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30661772 PMID:35232796 PMID:35887114 More... NCBI chr35:20,098,783...20,101,357
Ensembl chr35:20,099,773...20,101,154 		JBrowse link
Coffin-Siris syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:30879640 NCBI chr27:4,624,962...4,640,229
Ensembl chr27:4,626,056...4,637,907 		JBrowse link
Coffin-Siris syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICRA BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12 OMIM
ClinVar		 PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 NCBI chr 1:108,344,245...108,427,133 JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 1:114,354,993...114,427,997
Ensembl chr 1:114,309,693...114,427,991 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545 		JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DERL3 derlin 3 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr26:28,688,307...28,690,400
Ensembl chr26:28,688,106...28,690,400 		JBrowse link
G MMP11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr26:28,730,173...28,741,506
Ensembl chr26:28,727,332...28,741,415 		JBrowse link
G SLC2A11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr26:28,652,173...28,673,817
Ensembl chr26:28,652,974...28,673,724 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 susceptibility ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar
OMIM		 PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783 		JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition OMIM
ClinVar		 PMID:9536098 PMID:10601012 PMID:15756273 PMID:16199547 PMID:17576681 More... NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		JBrowse link
Coffin-Siris syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 5 ClinVar
OMIM		 PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 NCBI chr 9:22,015,402...22,036,424
Ensembl chr 9:22,015,600...22,035,442 		JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: ARID2-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 6 OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chr27:8,411,092...8,579,735
Ensembl chr27:8,412,377...8,579,882 		JBrowse link
G GIGYF1 GRB10 interacting GYF protein 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 ClinVar PMID:25741868 PMID:35917186 NCBI chr 6:9,018,749...9,032,258
Ensembl chr 6:9,020,415...9,113,368 		JBrowse link
Coffin-Siris syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 7 | ClinVar Annotator: match by term: DPF2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087 		JBrowse link
Coffin-Siris syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition OMIM
ClinVar		 PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:28492532 More... NCBI chr10:481,504...502,914
Ensembl chr10:481,817...501,551 		JBrowse link
Coffin-Siris syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 | ClinVar Annotator: match by term: SOX11-related condition OMIM
ClinVar		 PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 More...
cold-induced sweating syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCF1 cardiotrophin like cytokine factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:50,084,120...50,093,825
Ensembl chr18:50,083,915...50,102,651 		JBrowse link
G CRLF1 cytokine receptor like factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome | ClinVar Annotator: match by term: Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death ClinVar PMID:17436251 PMID:17436252 PMID:19012339 PMID:20186812 PMID:21370513 More... NCBI chr20:44,466,812...44,476,055
Ensembl chr20:44,466,810...44,472,637 		JBrowse link
G KLHL7 kelch like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:36,793,691...36,859,483
Ensembl chr14:36,802,984...36,887,588 		JBrowse link
cold-induced sweating syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRLF1 cytokine receptor like factor 1 ISO ClinVar Annotator: match by term: CRLF1-related condition | ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 OMIM
ClinVar		 PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More... NCBI chr20:44,466,812...44,476,055
Ensembl chr20:44,466,810...44,472,637 		JBrowse link
G KLHL7 kelch like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:21828050 PMID:25741868 PMID:27392078 PMID:30300710 PMID:31230720 More... NCBI chr14:36,793,691...36,859,483
Ensembl chr14:36,802,984...36,887,588 		JBrowse link
cold-induced sweating syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCF1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 OMIM
ClinVar		 PMID:16782820 PMID:20400119 PMID:25741868 NCBI chr18:50,084,120...50,093,825
Ensembl chr18:50,083,915...50,102,651 		JBrowse link
cold-induced sweating syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL7 kelch like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 3 | ClinVar Annotator: match by term: KLHL7-related condition | ClinVar Annotator: match by term: PERCHING syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:21828050 PMID:25741868 More... NCBI chr14:36,793,691...36,859,483
Ensembl chr14:36,802,984...36,887,588 		JBrowse link
Complex Camptosynpolydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 ISO ClinVar Annotator: match by term: Camptosynpolydactyly, complex OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 9:44,584,022...44,587,177 JBrowse link
distal arthrogryposis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:30777867 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 NCBI chr 5:34,696,377...34,725,515
Ensembl chr 5:34,696,371...34,723,574 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:17339586 PMID:19155175 PMID:23401156 PMID:23678273 PMID:24692096 More... NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923 		JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,111,003...50,155,937
Ensembl chr11:50,113,073...50,132,284 		JBrowse link
G AQP3 aquaporin 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,517,509...50,524,565 JBrowse link
G AQP7 aquaporin 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,474,007...50,488,191 JBrowse link
G ARHGEF39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,191,170...52,200,769
Ensembl chr11:52,196,462...52,200,778 		JBrowse link
G ARID3C AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,294,605...51,301,979
Ensembl chr11:51,295,030...51,301,547 		JBrowse link
G ATOSB atos homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,680,308...51,692,340
Ensembl chr11:51,681,329...51,683,969 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,223,880...50,276,745
Ensembl chr11:50,226,242...50,276,730 		JBrowse link
G BAG1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581 		JBrowse link
G CA9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267 		JBrowse link
G CCDC107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,194,412...52,196,817
Ensembl chr11:52,194,293...52,196,815 		JBrowse link
G CCIN calicin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,637,580...52,640,121 JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,357,706...51,359,207
Ensembl chr11:51,340,530...51,359,365 		JBrowse link
G CCL21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,375,107...51,375,790 JBrowse link
G CCL27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,334,870...51,338,752
Ensembl chr11:51,334,778...51,335,591 		JBrowse link
G CD72 CD72 molecule ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,170,893...52,179,035
Ensembl chr11:52,170,893...52,178,301 		JBrowse link
G CHMP5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,363,488...50,376,081 JBrowse link
G CIMIP2B ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,144,806...52,164,782
Ensembl chr11:52,144,801...52,146,823 		JBrowse link
G CLTA clathrin light chain A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,636,328...52,681,258
Ensembl chr11:52,615,039...52,681,270 		JBrowse link
G CNTFR ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,226,951...51,266,431
Ensembl chr11:51,227,509...51,245,188 		JBrowse link
G CNTNAP1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 NCBI chr 9:20,293,184...20,307,708
Ensembl chr 9:20,293,170...20,307,662 		JBrowse link
G CREB3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,260,340...52,265,085
Ensembl chr11:52,260,420...52,266,515 		JBrowse link
G DCAF12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,843,818...50,878,833
Ensembl chr11:50,845,773...50,878,838 		JBrowse link
G DCTN3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,287,966...51,294,049
Ensembl chr11:51,287,967...51,294,051 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,080,080...51,205,381
Ensembl chr11:51,106,370...51,237,467 		JBrowse link
G DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,156,089...50,168,379
Ensembl chr11:50,156,089...50,167,536 		JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,587,728...51,596,911
Ensembl chr11:51,587,295...51,595,839 		JBrowse link
G ENHO energy homeostasis associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,205,439...51,207,447 JBrowse link
G EXOSC3 exosome component 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:54,072,993...54,079,024
Ensembl chr11:54,073,313...54,078,598 		JBrowse link
G FAM205A family with sequence similarity 205 member A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,429,911...51,436,517
Ensembl chr11:51,430,091...51,435,019 		JBrowse link
G FAM219A family with sequence similarity 219 member A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,092,364...51,144,324
Ensembl chr11:51,092,470...51,144,168 		JBrowse link
G FAM221B family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,348,496...52,351,671
Ensembl chr11:52,348,231...52,356,719 		JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751 		JBrowse link
G FBXO10 F-box protein 10 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,833,335...53,885,416
Ensembl chr11:53,835,003...53,896,930 		JBrowse link
G FRMPD1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,901,625...54,051,885
Ensembl chr11:53,939,807...54,051,756 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,319,812...51,323,337
Ensembl chr11:51,319,347...51,334,802 		JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,264,959...52,277,298
Ensembl chr11:52,265,070...52,277,213 		JBrowse link
G GLIPR2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,622,460...52,634,602
Ensembl chr11:52,615,039...52,681,270 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,688,295...52,731,160
Ensembl chr11:52,689,343...52,731,231 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,748,389...53,759,692
Ensembl chr11:53,748,414...53,759,693 		JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,342,564...52,344,994
Ensembl chr11:52,342,567...52,344,947 		JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,420,070...52,421,097
Ensembl chr11:52,420,011...52,420,629 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,324,915...51,341,981 JBrowse link
G KIF24 kinesin family member 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,974,376...51,049,862
Ensembl chr11:50,976,627...51,022,382 		JBrowse link
G MELK maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,970,699...53,067,169
Ensembl chr11:52,977,260...53,067,172 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:30777867 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
G MSMP microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,280,528...52,281,559
Ensembl chr11:52,280,528...52,281,541 		JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr 5:34,914,797...34,938,263
Ensembl chr 5:34,914,918...34,936,617 		JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr 5:34,696,377...34,725,515
Ensembl chr 5:34,696,371...34,723,574 		JBrowse link
G MYORG myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,070,088...51,077,595
Ensembl chr11:51,071,707...51,073,851 		JBrowse link
G NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:49,821,998...49,833,624
Ensembl chr22:3,526,115...3,526,501 		JBrowse link
G NFX1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,387,368...50,462,978
Ensembl chr11:50,387,883...50,462,428 		JBrowse link
G NOL6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,533,150...50,544,770
Ensembl chr11:50,533,453...50,545,094 		JBrowse link
G NPR2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,283,680...52,339,247
Ensembl chr11:52,321,590...52,339,249 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178 		JBrowse link
G OR13C11B olfactory receptor family 13 subfamily C member 11B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,449,404...52,450,363 JBrowse link
G OR13J1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,399,129...52,400,349
Ensembl chr11:52,399,129...52,400,067 		JBrowse link
G PAX5 paired box 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,194,905...53,390,204
Ensembl chr11:53,201,344...53,390,974 		JBrowse link
G PHF24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,552,345...51,580,762
Ensembl chr11:51,569,770...51,577,059 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,661,954...51,671,169
Ensembl chr11:51,663,577...51,671,178 		JBrowse link
G POLR1E RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,793,324...53,808,725
Ensembl chr11:53,793,042...53,808,724 		JBrowse link
G PRSS2 serine protease 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr16:6,778,109...6,781,404 JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,519,303...52,607,753
Ensembl chr11:52,519,317...52,607,217 		JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,276,151...52,280,482
Ensembl chr11:52,277,189...52,281,639 		JBrowse link
G RIGI RNA sensor RIG-I ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:49,764,252...49,799,626
Ensembl chr11:49,764,267...49,799,527 		JBrowse link
G RNF38 ring finger protein 38 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,764,216...52,827,993
Ensembl chr11:52,764,220...52,901,983 		JBrowse link
G RPP25L ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,284,382...51,286,891 JBrowse link
G RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,074,234...52,144,854
Ensembl chr11:52,120,179...52,144,356 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,310,672...51,313,426
Ensembl chr11:51,311,085...51,313,400 		JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,189,585...52,191,255
Ensembl chr11:52,190,215...52,191,308 		JBrowse link
G SMU1 SMU1 DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,172,679...50,195,719
Ensembl chr11:50,174,153...50,195,644 		JBrowse link
G SPAG8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,339,338...52,341,642
Ensembl chr11:52,339,339...52,341,522 		JBrowse link
G SPATA31G1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,624,571...51,629,189
Ensembl chr11:51,625,604...51,629,131 		JBrowse link
G SPINK4 serine peptidase inhibitor Kazal type 4 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,340,068...50,345,777
Ensembl chr11:50,340,145...50,345,777 		JBrowse link
G SPMIP6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,078,682...51,092,014
Ensembl chr11:51,078,808...51,091,818 		JBrowse link
G STOML2 stomatin like 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,675,963...51,679,313
Ensembl chr11:51,675,963...51,679,199 		JBrowse link
G TESK1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,166,049...52,170,611
Ensembl chr11:52,166,276...52,170,309 		JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,227,286...52,260,112
Ensembl chr11:52,227,611...52,259,915 		JBrowse link
G TMEM215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:49,980,861...49,983,122 JBrowse link
G TMEM8B transmembrane protein 8B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,344,566...52,387,049
Ensembl chr11:52,355,933...52,386,466 		JBrowse link
G TOMM5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,896,300...53,901,523
Ensembl chr11:53,896,305...53,901,489 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:49,809,156...49,821,224
Ensembl chr11:49,809,465...49,821,075 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A OMIM
ClinVar		 PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 More... NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923 		JBrowse link
G TRMT10B tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:54,056,251...54,071,870
Ensembl chr11:54,056,312...54,071,692 		JBrowse link
G UBAP1 ubiquitin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,890,090...50,974,901
Ensembl chr11:50,918,939...50,974,159 		JBrowse link
G UBAP2 ubiquitin associated protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,679,601...50,803,455
Ensembl chr11:50,675,525...50,802,940 		JBrowse link
G UBE2R2 ubiquitin conjugating enzyme E2 R2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,554,173...50,678,284
Ensembl chr11:50,554,349...50,675,514 		JBrowse link
G UNC13B unc-13 homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,707,968...51,941,148
Ensembl chr11:51,708,302...51,940,955 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714 		JBrowse link
G ZBTB5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,760,510...53,774,864
Ensembl chr11:53,762,839...53,774,921 		JBrowse link
G ZCCHC7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,434,007...53,686,187
Ensembl chr11:53,438,985...53,685,855 		JBrowse link
distal arthrogryposis type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYBPC1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B OMIM
ClinVar		 PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 More... NCBI chr15:40,504,974...40,590,441
Ensembl chr15:40,504,160...40,613,978 		JBrowse link
distal arthrogryposis type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYL11 myosin light chain 11 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C OMIM
ClinVar		 PMID:25741868 PMID:32707087 NCBI chr 6:17,719,590...17,721,903
Ensembl chr 6:17,719,588...17,725,730 		JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723 		JBrowse link
DOORS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1C1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: DOORS syndrome ClinVar PMID:25741868 NCBI chr13:4,509,699...4,569,500
Ensembl chr13:4,510,003...4,579,846 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: DOORS syndrome ClinVar PMID:25326637 PMID:28492532 NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: DOOR SYNDROME | ClinVar Annotator: match by term: DOORS syndrome OMIM
ClinVar		 PMID:1029242 PMID:3402014 PMID:16199547 PMID:20727515 PMID:22211675 More... NCBI chr 6:38,531,547...38,557,472 JBrowse link
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH3 cadherin 3 ISO ClinVar Annotator: match by term: CDH3-related condition | ClinVar Annotator: match by term: EEM syndrome OMIM
ClinVar		 PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 More... NCBI chr 5:80,864,859...80,912,136
Ensembl chr 5:80,863,661...80,913,019 		JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 OMIM
ClinVar		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
Eiken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Eiken skeletal dysplasia | ClinVar Annotator: match by term: Eiken syndrome OMIM
ClinVar		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 NCBI chr20:41,905,265...41,924,712
Ensembl chr20:41,905,273...41,925,794 		JBrowse link
Frank-Ter Haar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SH3PXD2B SH3 and PX domains 2B ISO ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: Megalocornea, multiple skeletal anomalies, and developmental delay | ClinVar Annotator: match by term: SH3PXD2B-related condition OMIM
ClinVar		 PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More... NCBI chr 4:39,854,213...39,950,704
Ensembl chr 4:39,854,211...39,949,958 		JBrowse link
frontometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,790,585...121,815,395
Ensembl chr  X:121,791,660...121,814,715 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,853,340...121,862,582
Ensembl chr  X:121,819,432...121,862,576 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :multiple (human)		 CTD
RGD		 PMID:27426733 RGD:11552867 NCBI chr12:49,669,849...49,740,039
Ensembl chr12:49,672,389...49,739,850 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,777,658...121,782,097
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G OPN1LW opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,782,411...121,788,928
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,987,726...122,030,718
Ensembl chr  X:121,986,906...121,996,306 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:122,007,270...122,034,500
Ensembl chr  X:122,007,282...122,034,255 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,815,982...121,820,790 JBrowse link
frontometaphyseal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1 OMIM
ClinVar		 PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More... NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
frontometaphyseal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 OMIM
ClinVar		 PMID:25741868 PMID:25899317 PMID:27426733 PMID:28492532 NCBI chr12:49,669,849...49,740,039
Ensembl chr12:49,672,389...49,739,850 		JBrowse link
Fuhrmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT7A Wnt family member 7A ISO ClinVar Annotator: match by term: Fuhrmann syndrome | ClinVar Annotator: match by term: WNT7A-related condition OMIM
ClinVar		 PMID:9128926 PMID:12809666 PMID:16826533 PMID:19282404 PMID:21344627 More... NCBI chr20:4,072,010...4,139,521
Ensembl chr20:4,073,929...4,139,436 		JBrowse link
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease ClinVar PMID:25741868 PMID:29625025 NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433 		JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: Myhre syndrome		 OMIM
ClinVar		 PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 More... NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		JBrowse link
hand-foot-genital syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA13 homeobox A13 ISO ClinVar Annotator: match by term: HFG syndrome | ClinVar Annotator: match by term: Hand-foot-genital syndrome OMIM
ClinVar		 PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 More... NCBI chr14:40,371,234...40,375,261
Ensembl chr14:40,373,059...40,375,980 		JBrowse link
G HOXA9 homeobox A9 ISO ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar NCBI chr14:40,336,829...40,340,533
Ensembl chr14:40,337,999...40,339,923 		JBrowse link
Heart-Hand Syndrome, Slovenian Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type OMIM
ClinVar		 PMID:262236 PMID:2007407 PMID:2733290 PMID:4740717 PMID:8619549 More... NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate OMIM
ClinVar		 PMID:11173846 PMID:12627230 PMID:14513299 PMID:15605412 PMID:15793702 More... NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261 		JBrowse link
hydrolethalus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 5:8,589,606...8,605,196
Ensembl chr 5:8,589,369...8,605,317 		JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism
OMIM:236680 | OMIM:614120		 CTD
MouseDO		 PMID:21552264 NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231 		JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 5:8,586,374...8,597,108
Ensembl chr 5:8,586,324...8,596,881 		JBrowse link
hydrolethalus syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 1 OMIM
ClinVar		 PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 5:8,589,606...8,605,196
Ensembl chr 5:8,589,369...8,605,317 		JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231 		JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 1 ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 5:8,586,374...8,597,108
Ensembl chr 5:8,586,324...8,596,881 		JBrowse link
hydrolethalus syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:19666503 PMID:21552264 PMID:21633164 PMID:25131622 More... NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231 		JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL4 spalt like transcription factor 4 ISO ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders OMIM
ClinVar		 PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287 		JBrowse link
Keutel Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MGP matrix Gla protein ISO ClinVar Annotator: match by term: Keutel syndrome | ClinVar Annotator: match by term: MGP-related condition OMIM
ClinVar		 PMID:9916809 PMID:15810001 PMID:25741868 PMID:28492532 NCBI chr27:31,735,301...31,738,673
Ensembl chr27:31,734,660...31,738,673 		JBrowse link
Laurin-Sandrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Laurin-Sandrow syndrome OMIM
ClinVar		 PMID:16059937 PMID:24456159 NCBI chr16:19,295,235...19,442,390
Ensembl chr16:19,296,149...19,442,369 		JBrowse link
Melnick-Needles syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: Melnick-Needles osteodysplasty | ClinVar Annotator: match by term: Melnick-Needles syndrome | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles OMIM
ClinVar		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,790,585...121,815,395
Ensembl chr  X:121,791,660...121,814,715 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,853,340...121,862,582
Ensembl chr  X:121,819,432...121,862,576 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,777,658...121,782,097
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G OPN1LW opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,782,411...121,788,928
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,987,726...122,030,718
Ensembl chr  X:121,986,906...121,996,306 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:122,007,270...122,034,500
Ensembl chr  X:122,007,282...122,034,255 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,815,982...121,820,790 JBrowse link
Microcephaly with Mental Retardation and Digital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBBP8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Jawad syndrome | ClinVar Annotator: match by term: RBBP8-related disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18071751 PMID:18414213 PMID:21998596 More... NCBI chr 7:65,218,288...65,319,696
Ensembl chr 7:65,218,297...65,297,099 		JBrowse link
multiple synostoses syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar PMID:25741868 NCBI chr25:16,630,321...16,665,935
Ensembl chr25:16,632,812...16,663,550 		JBrowse link
G GDF5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr24:24,395,699...24,400,302
Ensembl chr24:24,395,263...24,399,928 		JBrowse link
G NOG noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome OMIM
ClinVar		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... NCBI chr 9:31,453,604...31,456,060 JBrowse link
otopalatodigital syndrome spectrum disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: Otopalatodigital syndrome spectrum disorder ClinVar PMID:15654694 PMID:16596676 NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
otopalatodigital syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I OMIM
ClinVar		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:10982489 PMID:11704759 More... NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16783569 NCBI chr  X:10,140,439...10,194,478
Ensembl chr  X:10,140,067...10,194,472 		JBrowse link
otopalatodigital syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: Andre syndrome | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD 2 syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: Oto-palato-digital syndrome type 2 | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II OMIM
ClinVar		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,790,585...121,815,395
Ensembl chr  X:121,791,660...121,814,715 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,853,340...121,862,582
Ensembl chr  X:121,819,432...121,862,576 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,777,658...121,782,097
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G OPN1LW opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,782,411...121,788,928
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,987,726...122,030,718
Ensembl chr  X:121,986,906...121,996,306 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:122,007,270...122,034,500
Ensembl chr  X:122,007,282...122,034,255 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,815,982...121,820,790 JBrowse link
Richieri Costa Pereira Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF4A3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by term: EIF4A3-related condition | ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome OMIM
ClinVar		 PMID:24360810 NCBI chr 9:1,582,950...1,593,893
Ensembl chr 9:1,582,993...1,593,892 		JBrowse link
Schinzel Giedion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: Schinzel-Giedion syndrome OMIM
ClinVar		 PMID:18398855 PMID:18414213 PMID:20436468 PMID:21037274 PMID:21371013 More... NCBI chr 7:46,020,892...46,378,867
Ensembl chr 7:46,020,889...46,378,005 		JBrowse link
split hand-foot malformation 1 with sensorineural hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss OMIM
ClinVar		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chr14:22,080,351...22,085,188
Ensembl chr14:22,080,699...22,084,867 		JBrowse link
syndactyly type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF16 fibroblast growth factor 16 ISO ClinVar Annotator: match by term: Syndactyly type 8 OMIM
ClinVar		 PMID:23709756 PMID:24878828 NCBI chr  X:59,738,512...59,748,188
Ensembl chr  X:59,739,398...59,748,204 		JBrowse link
Synpolydactyly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN1 fibulin 1 ISO ClinVar Annotator: match by term: FBLN1-related condition | ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:20,498,097...20,564,776
Ensembl chr10:20,498,567...20,627,836 		JBrowse link
tarsal-carpal coalition syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOG noggin ISO ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome OMIM
ClinVar		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 More... NCBI chr 9:31,453,604...31,456,060 JBrowse link
Teebi hypertelorism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO ClinVar Annotator: match by term: Teebi hypertelorism syndrome ClinVar PMID:17506099 PMID:25412741 PMID:25741868 PMID:25741869 PMID:26111080 More... NCBI chr26:27,994,278...28,127,383
Ensembl chr26:28,025,987...28,125,695 		JBrowse link
Teebi hypertelorism syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MID1 midline 1 ISO ClinVar Annotator: match by term: Opitz-Frias syndrome ClinVar PMID:9354791 PMID:9718340 PMID:11030761 PMID:12545276 PMID:15121778 More... NCBI chr  X:7,087,890...7,438,553
Ensembl chr  X:7,089,831...7,194,267 		JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO ClinVar Annotator: match by term: SPECC1L-related condition | ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1 OMIM
ClinVar		 PMID:3228142 PMID:25412741 PMID:25741868 PMID:28492532 PMID:30472488 More... NCBI chr26:27,994,278...28,127,383
Ensembl chr26:28,025,987...28,125,695 		JBrowse link
Teebi hypertelorism syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH11 cadherin 11 ISO ClinVar Annotator: match by term: CDH11-related condition | ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:33811546 NCBI chr 5:83,977,267...84,122,712
Ensembl chr 5:84,038,317...84,122,110 		JBrowse link
terminal osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: Terminal osseous dysplasia | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome OMIM
ClinVar		 PMID:9071288 PMID:9536098 PMID:9800904 PMID:10982489 PMID:10982965 More... NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr13:18,507,586...18,515,755
Ensembl chr13:18,507,580...18,514,619 		JBrowse link
G COLEC10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr13:18,291,168...18,331,918
Ensembl chr13:18,291,051...18,330,617 		JBrowse link
G EIF3H eukaryotic translation initiation factor 3 subunit H ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr13:16,105,960...16,201,902
Ensembl chr13:16,105,990...16,341,153 		JBrowse link
G ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr13:18,586,886...18,697,339
Ensembl chr13:18,587,129...18,697,324 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr13:17,172,497...17,457,084
Ensembl chr13:17,172,705...17,456,469 		JBrowse link
G MAL2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr13:18,404,979...18,422,076
Ensembl chr13:18,406,633...18,420,469 		JBrowse link
G MED30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr13:16,928,166...16,949,503
Ensembl chr13:16,928,161...16,949,295 		JBrowse link
G RAD21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035 		JBrowse link
G SAMD12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr13:17,525,855...17,897,153
Ensembl chr13:17,528,421...17,897,009 		JBrowse link
G SLC30A8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr13:16,602,255...16,637,299
Ensembl chr13:16,601,912...16,635,880 		JBrowse link
G TAF2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr13:18,724,408...18,824,025
Ensembl chr13:18,729,234...18,823,979 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III OMIM
ClinVar		 PMID:9536098 PMID:10615131 PMID:11112658 PMID:11807863 PMID:11950061 More... NCBI chr13:15,017,180...15,273,177
Ensembl chr13:15,022,652...15,273,666 		JBrowse link
G UTP23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr13:16,213,131...16,219,726
Ensembl chr13:16,213,159...16,339,964 		JBrowse link
Triphalangeal Thumb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Triphalangeal thumb ClinVar PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 PMID:22340503 More... NCBI chr16:19,295,235...19,442,390
Ensembl chr16:19,296,149...19,442,369 		JBrowse link
Van Maldergem syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCHS1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr21:29,927,713...29,955,742
Ensembl chr21:29,928,176...29,948,713 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome ClinVar PMID:24033266 PMID:24056717 PMID:24913602 PMID:28492532 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045 		JBrowse link
Van Maldergem syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCHS1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 OMIM
ClinVar		 PMID:22473091 PMID:24056717 PMID:25741868 PMID:28492532 PMID:28518168 More... NCBI chr21:29,927,713...29,955,742
Ensembl chr21:29,928,176...29,948,713 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:28492532 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045 		JBrowse link
Van Maldergem syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: FAT4-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:9536098 PMID:17576681 PMID:22469822 PMID:22473091 More... NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045 		JBrowse link
Vohwinkel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
Weaver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNTNAP2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr16:2,239,953...4,208,718
Ensembl chr16:2,243,918...4,208,416 		JBrowse link
G CUL1 cullin 1 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr16:1,995,637...2,086,853
Ensembl chr16:1,995,960...2,052,864 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Weaver syndrome OMIM
ClinVar		 PMID:4366187 PMID:9536098 PMID:17576681 PMID:18414213 PMID:22177091 More... NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:25741868 PMID:30019515 NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645 		JBrowse link
X-linked Aarskog syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: FGD1-Related Disorders OMIM
ClinVar		 PMID:000740980 PMID:7954831 PMID:11940089 PMID:14560308 PMID:21739585 More... NCBI chr  X:46,194,950...46,239,291
Ensembl chr  X:46,194,735...46,270,701 		JBrowse link
G TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-Related Disorders ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:46,189,810...46,194,949
Ensembl chr  X:46,189,870...46,296,966 		JBrowse link
Zimmerman Laband Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25915598 NCBI chr25:36,833,246...36,858,846
Ensembl chr25:36,834,196...36,858,819 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 ISO ClinVar Annotator: match by term: Laband syndrome ClinVar PMID:23020937 PMID:25741868 PMID:26264464 PMID:26818738 PMID:28492532 More... NCBI chr 7:9,317,804...9,631,144
Ensembl chr 7:9,252,488...9,631,150 		JBrowse link
Zimmermann-Laband Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 ClinVar PMID:18541964 PMID:23994350 PMID:25915598 NCBI chr25:36,833,246...36,858,846
Ensembl chr25:36,834,196...36,858,819 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 ISO ClinVar Annotator: match by term: KCNH1-related condition | ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 OMIM
ClinVar		 PMID:18541964 PMID:20683999 PMID:23020937 PMID:23994350 PMID:24357613 More... NCBI chr 7:9,317,804...9,631,144
Ensembl chr 7:9,252,488...9,631,150 		JBrowse link
Zimmermann-Laband Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: ATP6V1B2-related condition | ClinVar Annotator: match by term: Zimmermann-Laband syndrome 2 OMIM
ClinVar		 PMID:18541964 PMID:23994350 PMID:24913193 PMID:25741868 PMID:25915598 More... NCBI chr25:36,833,246...36,858,846
Ensembl chr25:36,834,196...36,858,819 		JBrowse link
Zimmermann-Laband Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:31155282 NCBI chr 7:42,562,500...42,704,862
Ensembl chr 7:42,572,432...42,698,047 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15755
    disease of anatomical entity 15375
      musculoskeletal system disease 7925
        Hand Deformities 207
          Congenital Hand Deformities 204
            Aarskog syndrome + 2
            Acrootoocular Syndrome 0
            Anonychia-Ectrodactyly 0
            Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 0
            Banki Syndrome 0
            Bifid Femur with Monodactylous Ectrodactyly 2
            Camptodactyly 1 0
            Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 0
            Camptodactyly Syndrome Guadalajara Type + 0
            Camptodactyly Taurinuria 0
            Camptodactyly Vertebral Fusion 0
            Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 0
            Camptodactyly-Ichthyosis Syndrome 0
            Carnevale Hernandez Castillo Syndrome 0
            Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
            Catel Manzke syndrome 2
            Chitayat Meunier Hodgkinson Syndrome 0
            Coffin-Siris syndrome + 21
            Complex Camptosynpolydactyly 1
            Cranioacrofacial Syndrome 0
            Craniosynostosis, Adelaide Type 0
            DOORS syndrome 3
            Daneman Davy Mancer Syndrome 0
            Deafness, Congenital Onychodystrophy, Recessive Form 0
            Distal Symphalangism + 3
            Dwarfism Stiff Joint Ocular Abnormalities 0
            Dystelephalangy 0
            Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 0
            Ectrodactyly-Cleft Palate Syndrome 0
            Eiken syndrome 1
            Extensor Tendons of Fingers, Anomalous Insertion of 0
            Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 0
            Fairbank Disease 0
            Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 0
            Frints De Smet Fabry Fryns Syndrome 0
            Frontootopalatodigital Osteodysplasia 0
            Fuhrmann syndrome 1
            Gingival Fibromatosis with Hypertrichosis and Mental Retardation 0
            Goodman Camptodactyly 0
            Growth Mental Deficiency Syndrome of Myhre 2
            Growth Retardation, Small and Puffy Hands and Feet, and Eczema 0
            Hairy Palms and Soles 0
            Heart-Hand Syndrome, Slovenian Type 1
            Hecht-Scott Syndrome 0
            Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
            IVIC syndrome 1
            Johnson Munson Syndrome 0
            Keutel Syndrome 1
            Khalifa Graham Syndrome 0
            Laurin-Sandrow syndrome 1
            Leri Pleonosteosis 0
            Macrodactyly of the Hand 0
            Mammary-Digital-Nail Syndrome 0
            Metaphyseal Acroscyphodysplasia 0
            Michels Caskey Syndrome 0
            Microcephaly with Mental Retardation and Digital Anomalies 1
            Mononen-Karnes-Senac syndrome 0
            Morillo-Cucci Passarge Syndrome 0
            Muller Barth Menger Syndrome 0
            Neurofaciodigitorenal Syndrome 0
            Odontotrichoungual-Digital-Palmar Syndrome 0
            Oroacral Syndrome, Verloes-Koulischer Type 0
            Oslam syndrome 0
            Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 0
            Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 0
            Pfeiffer Tietze Welte Syndrome 0
            Postaxial Polydactyly, with Dental and Vertebral Anomalies 0
            Progeroid Facial Appearance with Hand Anomalies 0
            Pseudotrisomy 13 Syndrome 0
            Radio-Ulnar Synostosis Type 1 0
            Radio-Ulnar Synostosis Type 2 0
            Rhizomelic Dysplasia Patterson Lowry Type 0
            Richieri Costa Guion-Almeida Syndrome 0
            Richieri Costa Pereira Syndrome 1
            Rozin Hertz Goodman Syndrome 0
            Saal Bulas Syndrome 0
            Sanderson Fraser Syndrome 0
            Say Field Coldwell Syndrome 0
            Schinzel Giedion syndrome 1
            Second Metatarsal-Metacarpal Syndrome 0
            Split Hand, Split Foot, Nystagmus 0
            Spondylocamptodactyly 0
            Stoll Alembik Dott Syndrome 0
            Symphalangism with Multiple Anomalies of Hands and Feet 0
            Symphalangism, C. S. Lewis Type 0
            Synpolydactyly 2 1
            Tabatznik Syndrome 0
            Teebi Kaurah Syndrome 0
            Teebi hypertelorism syndrome + 3
            Tel Hashomer Camptodactyly Syndrome 0
            Tollner Horst Manzke Syndrome 0
            Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
            Triphalangeal Thumb + 1
            Tukel syndrome 0
            Unilateral Adactylia 0
            Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 0
            Van Maldergem syndrome + 2
            Ventricular Extrasystoles Perodactyly Robin Sequence 0
            Vohwinkel syndrome 1
            Walbaum Titran Durieux Crepin Syndrome 0
            Weaver syndrome 5
            Weyers Ulnar Ray/Oligodactyly Syndrome 0
            Zimmerman Laband Syndrome + 3
            acheiropody 1
            acrocardiofacial syndrome 0
            acrofacial dysostosis Rodriguez type 0
            acrofacial dysostosis, Patagonia type 0
            acrorenal syndrome + 0
            brachydactyly type E1 3
            brachydactyly type E2 1
            camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
            camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
            cold-induced sweating syndrome + 3
            distal arthrogryposis type 1 + 92
            distal arthrogryposis type 3 1
            ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
            ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0
            ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
            hand-foot-genital syndrome 2
            hydrolethalus syndrome + 3
            otopalatodigital syndrome spectrum disorder + 13
            split hand-foot malformation 1 with sensorineural hearing loss 1
            syndactyly type 8 1
            tarsal-carpal coalition syndrome + 1
            terminal osseous dysplasia 1
            trichorhinophalangeal syndrome type III 14
Path 2
Term Annotations click to browse term
  disease 15755
    Developmental Disease 13757
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12836
        Congenital Abnormalities 7761
          Musculoskeletal Abnormalities 3427
            Congenital Limb Deformities 1066
              Congenital Upper Extremity Deformities 232
                Congenital Hand Deformities 204
                  Aarskog syndrome + 2
                  Acrootoocular Syndrome 0
                  Anonychia-Ectrodactyly 0
                  Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 0
                  Banki Syndrome 0
                  Bifid Femur with Monodactylous Ectrodactyly 2
                  Camptodactyly 1 0
                  Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 0
                  Camptodactyly Syndrome Guadalajara Type + 0
                  Camptodactyly Taurinuria 0
                  Camptodactyly Vertebral Fusion 0
                  Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 0
                  Camptodactyly-Ichthyosis Syndrome 0
                  Carnevale Hernandez Castillo Syndrome 0
                  Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 1
                  Catel Manzke syndrome 2
                  Chitayat Meunier Hodgkinson Syndrome 0
                  Coffin-Siris syndrome + 21
                  Complex Camptosynpolydactyly 1
                  Cranioacrofacial Syndrome 0
                  Craniosynostosis, Adelaide Type 0
                  DOORS syndrome 3
                  Daneman Davy Mancer Syndrome 0
                  Deafness, Congenital Onychodystrophy, Recessive Form 0
                  Distal Symphalangism + 3
                  Dwarfism Stiff Joint Ocular Abnormalities 0
                  Dystelephalangy 0
                  Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 0
                  Ectrodactyly-Cleft Palate Syndrome 0
                  Eiken syndrome 1
                  Extensor Tendons of Fingers, Anomalous Insertion of 0
                  Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 0
                  Fairbank Disease 0
                  Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 0
                  Frints De Smet Fabry Fryns Syndrome 0
                  Frontootopalatodigital Osteodysplasia 0
                  Fuhrmann syndrome 1
                  Gingival Fibromatosis with Hypertrichosis and Mental Retardation 0
                  Goodman Camptodactyly 0
                  Growth Mental Deficiency Syndrome of Myhre 2
                  Growth Retardation, Small and Puffy Hands and Feet, and Eczema 0
                  Hairy Palms and Soles 0
                  Heart-Hand Syndrome, Slovenian Type 1
                  Hecht-Scott Syndrome 0
                  Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
                  IVIC syndrome 1
                  Johnson Munson Syndrome 0
                  Keutel Syndrome 1
                  Khalifa Graham Syndrome 0
                  Laurin-Sandrow syndrome 1
                  Leri Pleonosteosis 0
                  Macrodactyly of the Hand 0
                  Mammary-Digital-Nail Syndrome 0
                  Metaphyseal Acroscyphodysplasia 0
                  Michels Caskey Syndrome 0
                  Microcephaly with Mental Retardation and Digital Anomalies 1
                  Mononen-Karnes-Senac syndrome 0
                  Morillo-Cucci Passarge Syndrome 0
                  Muller Barth Menger Syndrome 0
                  Neurofaciodigitorenal Syndrome 0
                  Odontotrichoungual-Digital-Palmar Syndrome 0
                  Oroacral Syndrome, Verloes-Koulischer Type 0
                  Oslam syndrome 0
                  Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 0
                  Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 0
                  Pfeiffer Tietze Welte Syndrome 0
                  Postaxial Polydactyly, with Dental and Vertebral Anomalies 0
                  Progeroid Facial Appearance with Hand Anomalies 0
                  Pseudotrisomy 13 Syndrome 0
                  Radio-Ulnar Synostosis Type 1 0
                  Radio-Ulnar Synostosis Type 2 0
                  Rhizomelic Dysplasia Patterson Lowry Type 0
                  Richieri Costa Guion-Almeida Syndrome 0
                  Richieri Costa Pereira Syndrome 1
                  Rozin Hertz Goodman Syndrome 0
                  Saal Bulas Syndrome 0
                  Sanderson Fraser Syndrome 0
                  Say Field Coldwell Syndrome 0
                  Schinzel Giedion syndrome 1
                  Second Metatarsal-Metacarpal Syndrome 0
                  Split Hand, Split Foot, Nystagmus 0
                  Spondylocamptodactyly 0
                  Stoll Alembik Dott Syndrome 0
                  Symphalangism with Multiple Anomalies of Hands and Feet 0
                  Symphalangism, C. S. Lewis Type 0
                  Synpolydactyly 2 1
                  Tabatznik Syndrome 0
                  Teebi Kaurah Syndrome 0
                  Teebi hypertelorism syndrome + 3
                  Tel Hashomer Camptodactyly Syndrome 0
                  Tollner Horst Manzke Syndrome 0
                  Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
                  Triphalangeal Thumb + 1
                  Tukel syndrome 0
                  Unilateral Adactylia 0
                  Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 0
                  Van Maldergem syndrome + 2
                  Ventricular Extrasystoles Perodactyly Robin Sequence 0
                  Vohwinkel syndrome 1
                  Walbaum Titran Durieux Crepin Syndrome 0
                  Weaver syndrome 5
                  Weyers Ulnar Ray/Oligodactyly Syndrome 0
                  Zimmerman Laband Syndrome + 3
                  acheiropody 1
                  acrocardiofacial syndrome 0
                  acrofacial dysostosis Rodriguez type 0
                  acrofacial dysostosis, Patagonia type 0
                  acrorenal syndrome + 0
                  brachydactyly type E1 3
                  brachydactyly type E2 1
                  camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
                  camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
                  cold-induced sweating syndrome + 3
                  distal arthrogryposis type 1 + 92
                  distal arthrogryposis type 3 1
                  ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
                  ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0
                  ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
                  hand-foot-genital syndrome 2
                  hydrolethalus syndrome + 3
                  otopalatodigital syndrome spectrum disorder + 13
                  split hand-foot malformation 1 with sensorineural hearing loss 1
                  syndactyly type 8 1
                  tarsal-carpal coalition syndrome + 1
                  terminal osseous dysplasia 1
                  trichorhinophalangeal syndrome type III 14
paths to the root