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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:Lower Extremity Deformities, Congenital
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Accession:DOID:9007794 term browser browse the term
Definition:Congenital structural abnormalities of the LOWER EXTREMITY.
Synonyms:exact_synonym: Lower Limb Deformities, Congenital
 primary_id: MESH:D038061;   RDO:0000381
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Lower Extremity Deformities, Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9409668 NCBI chr 2:74,514,617...74,525,450
Ensembl chr 2:74,522,268...74,525,449 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr19:17,409,678...17,815,076
Ensembl chr19:17,409,683...17,814,996 		JBrowse link
acheiropody term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb region 1 ISO
IAGP		 ClinVar Annotator: match by term: Acheiropodia
OMIM:200500		 OMIM
ClinVar
MouseDO		 PMID:11090342 PMID:33863876 NCBI chr 5:29,434,800...29,583,414
Ensembl chr 5:29,434,800...29,583,388 		JBrowse link
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 1 OMIM
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr16:97,543,133...97,564,979
Ensembl chr16:97,543,133...97,564,987 		JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk conserved helix-loop-helix ubiquitous kinase ISO ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 2 OMIM
ClinVar		 PMID:25691407 NCBI chr19:44,061,773...44,095,940
Ensembl chr19:44,061,774...44,095,919 		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:25741868 PMID:33537682 NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421 		JBrowse link
G Hoxd13 homeobox D13 ISO ClinVar Annotator: match by term: Brachydactyly type E1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12620993 PMID:12649808 PMID:16314414 PMID:22233338 PMID:24239177 More... NCBI chr 2:74,498,569...74,501,947
Ensembl chr 2:74,498,654...74,501,943 		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 peptide ISO ClinVar Annotator: match by term: Brachydactyly type E2 OMIM
ClinVar		 PMID:20170896 PMID:25741868 PMID:25801215 PMID:26763883 PMID:29947179 More... NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681 		JBrowse link
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgb1 high mobility group box 1 ISO ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia ClinVar PMID:20661588 NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299 		JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss		 OMIM
ClinVar
RGD		 PMID:8733056 PMID:15260953 PMID:18414213 PMID:19652145 PMID:20301294 More... RGD:11576280 NCBI chr 7:24,677,592...24,705,502
Ensembl chr 7:24,677,592...24,705,383 		JBrowse link
clubfoot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars alanyl-tRNA synthetase ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 8:111,759,781...111,784,237
Ensembl chr 8:111,759,776...111,784,296 		JBrowse link
G Atp2b1 ATPase, Ca++ transporting, plasma membrane 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr10:98,750,243...98,862,005
Ensembl chr10:98,750,268...98,862,005 		JBrowse link
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 PMID:29290337 PMID:31680349 NCBI chr 3:36,917,212...37,107,182
Ensembl chr 3:36,917,253...37,107,182 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 More... NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20004762 NCBI chr 2:118,756,978...118,759,066
Ensembl chr 2:118,756,977...118,759,066 		JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:missense mutation:exon:rs1048943 (1384A>G) (p.I462V) (human) RGD PMID:21254355 RGD:11576307 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Congenital Talipes Equinovarus ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr 1:160,868,171...160,898,236
Ensembl chr 1:160,868,171...160,898,228 		JBrowse link
G Fkbp8 FK506 binding protein 8 IAGP OMIM:119800 MouseDO NCBI chr 8:70,980,371...70,987,978
Ensembl chr 8:70,980,374...70,987,978 		JBrowse link
G Flnb filamin, beta ISO DNA:missense mutations:cds:c.4717G>T (p.D1573Y), c.1897A>G(p.M633V,c.2195A>G (p.Y732C)(human) RGD PMID:27395407 RGD:12791025 NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 IAGP OMIM:119800 MouseDO NCBI chr 5:96,518,622...96,932,592
Ensembl chr 5:96,521,814...96,932,587 		JBrowse link
G Gli3 GLI-Kruppel family member GLI3 ISO RGD PMID:19925654 RGD:12738235 NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 IAGP OMIM:119800 MouseDO NCBI chr10:119,289,810...119,923,172
Ensembl chr10:119,289,735...119,923,166 		JBrowse link
G Hoxd12 homeobox D12 ISO DNA:SNP:5' utr:rs847154 (human) RGD PMID:16331564 RGD:12743594 NCBI chr 2:74,505,357...74,508,049
Ensembl chr 2:74,505,357...74,508,049 		JBrowse link
G Hoxd13 homeobox D13 ISO DNA:SNP:exon:rs13392701 (human) RGD PMID:16331564 RGD:12743594 NCBI chr 2:74,498,569...74,501,947
Ensembl chr 2:74,498,654...74,501,943 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chr 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936070 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY ClinVar PMID:25741868 NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319 		JBrowse link
G Pitx1 paired-like homeodomain transcription factor 1 ISO
IAGP		 ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY | ClinVar Annotator: match by term: Clubfoot
OMIM:119800		 OMIM
ClinVar
MouseDO		 PMID:18950742 PMID:22258522 PMID:25741868 PMID:28492532 NCBI chr13:55,972,857...55,984,002
Ensembl chr13:55,972,864...55,984,005 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr17:24,767,657...24,815,488
Ensembl chr17:24,768,808...24,815,482 		JBrowse link
G Ret ret proto-oncogene IAGP OMIM:119800 MouseDO NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital Talipes Equinovarus ClinVar PMID:18253 PMID:7299413 PMID:16380615 PMID:17033962 PMID:17365175 More... NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G Tcirg1 T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 IAGP OMIM:119800 MouseDO NCBI chr19:3,946,050...3,957,717
Ensembl chr19:3,946,050...3,957,133 		JBrowse link
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b ISO ClinVar Annotator: match by term: Congenital Talipes Equinovarus ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:20037587 PMID:20037588 PMID:21288981 PMID:21454511 PMID:24319099 More... NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:23861362 PMID:25741868 NCBI chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891 		JBrowse link
G Unc13c unc-13 homolog C ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 9:73,386,704...73,915,421
Ensembl chr 9:73,386,704...73,876,248 		JBrowse link
G Vangl1 VANGL planar cell polarity 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 3:102,060,899...102,112,012
Ensembl chr 3:102,060,899...102,112,009 		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 chr11:76,563,296...76,564,502
Ensembl chr11:76,563,296...76,564,502 		JBrowse link
Congenital Foot Deformities 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 CTD Direct Evidence: marker/mechanism CTD PMID:11940089 NCBI chr  X:149,829,141...149,872,682
Ensembl chr  X:149,829,146...149,872,517 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO associated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiple RGD PMID:25394172 RGD:11098154 NCBI chr 8:26,008,775...26,065,734
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Lmna lamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Pthlh parathyroid hormone-like peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681 		JBrowse link
G Trp63 transformation related protein 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr16:25,502,513...25,710,838
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
congenital vertical talus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd10 homeobox D10 ISO ClinVar Annotator: match by term: Congenital vertical talus OMIM
ClinVar		 PMID:15146389 PMID:16450407 PMID:25741868 NCBI chr 2:74,514,617...74,525,450
Ensembl chr 2:74,522,268...74,525,449 		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 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:30777867 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Myh8 myosin, heavy polypeptide 8, skeletal muscle, perinatal ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 NCBI chr11:67,167,950...67,199,460
Ensembl chr11:67,167,950...67,199,460 		JBrowse link
G Myhas myosin heavy chain gene antisense RNA ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 NCBI chr11:67,115,022...67,128,107
Ensembl chr11:67,102,082...67,128,399 		JBrowse link
G Tpm2 tropomyosin 2, beta ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:19155175 PMID:27726070 PMID:28492532 NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765 		JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1110017D15Rik RIKEN cDNA 1110017D15 gene ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,505,005...41,517,333
Ensembl chr 4:41,505,009...41,517,333 		JBrowse link
G 1700022I11Rik RIKEN cDNA 1700022I11 gene ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:42,969,946...42,974,325
Ensembl chr 4:42,969,604...42,983,640 		JBrowse link
G Aptx aprataxin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:40,682,078...40,703,206
Ensembl chr 4:40,682,382...40,703,194 		JBrowse link
G Aqp3 aquaporin 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,092,724...41,098,183
Ensembl chr 4:41,092,722...41,098,183 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,033,074...41,048,237
Ensembl chr 4:41,033,074...41,048,139 		JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor (GEF) 39 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,496,139...43,508,747
Ensembl chr 4:43,496,142...43,499,695 		JBrowse link
G Arid3c AT rich interactive domain 3C (BRIGHT-like) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,723,831...41,731,142
Ensembl chr 4:41,723,836...41,731,142 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,032,414...43,046,220
Ensembl chr 4:43,032,414...43,046,220 		JBrowse link
G B4galt1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:40,804,602...40,855,711
Ensembl chr 4:40,804,602...40,854,005 		JBrowse link
G Bag1 BCL2-associated athanogene 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:40,936,398...40,948,294
Ensembl chr 4:40,936,398...40,948,294 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,493,365...43,495,921
Ensembl chr 4:43,492,900...43,495,921 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,983,504...43,985,533
Ensembl chr 4:43,983,483...43,985,423 		JBrowse link
G Ccl19 chemokine (C-C motif) ligand 19 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:42,754,525...42,756,365
Ensembl chr 4:42,754,525...42,756,577 		JBrowse link
G Ccl21a chemokine (C-C motif) ligand 21A (serine) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:42,772,860...42,773,991
Ensembl chr 4:42,772,860...42,773,993 		JBrowse link
G Ccl27a chemokine (C-C motif) ligand 27A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,769,467...41,774,251
Ensembl chr 4:41,769,467...41,774,247 		JBrowse link
G Cd72 CD72 antigen ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,447,724...43,454,720
Ensembl chr 4:43,446,462...43,454,628 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:40,948,553...40,965,302
Ensembl chr 4:40,948,407...40,965,303 		JBrowse link
G Clta clathrin, light polypeptide (Lca) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:44,003,816...44,032,846
Ensembl chr 4:44,004,452...44,032,846 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,657,498...41,697,091
Ensembl chr 4:41,657,498...41,697,089 		JBrowse link
G Cntnap1 contactin associated protein-like 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 NCBI chr11:101,065,429...101,081,550
Ensembl chr11:101,061,349...101,081,550 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,562,658...43,567,061
Ensembl chr 4:43,562,332...43,567,060 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,291,300...41,316,749
Ensembl chr 4:41,291,300...41,314,889 		JBrowse link
G Dctn3 dynactin 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,714,798...41,723,213
Ensembl chr 4:41,714,798...41,723,170 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,569,731...41,638,158
Ensembl chr 4:41,569,775...41,638,158 		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 chr 4:40,722,468...40,734,965
Ensembl chr 4:40,722,150...40,737,149 		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 chr 4:42,949,866...42,959,425
Ensembl chr 4:42,949,814...42,959,425 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,638,144...41,640,302
Ensembl chr 4:41,638,144...41,640,324 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:45,316,613...45,320,616
Ensembl chr 4:45,316,613...45,342,732 		JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,427,014...43,431,451
Ensembl chr 4:43,427,019...43,429,134 		JBrowse link
G Fam205a1 family with sequence similarity 205, member A1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:42,848,067...42,856,138
Ensembl chr 4:42,848,071...42,853,888
Ensembl chr 4:42,848,071...42,853,888 		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 chr 4:41,517,691...41,569,538
Ensembl chr 4:41,517,691...41,569,538 		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 chr 4:43,659,622...43,668,859
Ensembl chr 4:43,659,622...43,669,145 		JBrowse link
G Fancg Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,002,337...43,010,567
Ensembl chr 4:43,002,343...43,010,506 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:45,034,248...45,084,604
Ensembl chr 4:45,034,247...45,084,604 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:45,183,990...45,285,936
Ensembl chr 4:45,184,875...45,285,936 		JBrowse link
G Galt galactose-1-phosphate uridyl transferase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,755,517...41,759,243
Ensembl chr 4:41,755,228...41,758,695 		JBrowse link
G Gba2 glucosidase beta 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,566,928...43,578,886
Ensembl chr 4:43,566,928...43,578,873 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,957,702...43,979,118
Ensembl chr 4:43,957,401...43,979,118 		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 chr 4:44,034,075...44,084,177
Ensembl chr 4:44,034,075...44,084,177 		JBrowse link
G Grhpr glyoxylate reductase/hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:44,981,394...44,990,734
Ensembl chr 4:44,981,395...44,990,734 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,654,227...43,656,445
Ensembl chr 4:43,654,227...43,656,466 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,727,198...43,728,110
Ensembl chr 4:43,727,188...43,728,639 		JBrowse link
G Il11ra1 interleukin 11 receptor, alpha chain 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,389,774...41,464,918
Ensembl chr 4:41,390,745...41,464,887 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:44,300,876...44,364,675
Ensembl chr 4:44,300,876...44,364,675 		JBrowse link
G Met met proto-oncogene ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:30777867 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,583,216...43,584,494
Ensembl chr 4:43,583,216...43,584,494 		JBrowse link
G Myh3 myosin, heavy polypeptide 3, skeletal muscle, embryonic ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr11:66,969,101...66,993,117
Ensembl chr11:66,969,126...66,993,117 		JBrowse link
G Myh8 myosin, heavy polypeptide 8, skeletal muscle, perinatal ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr11:67,167,950...67,199,460
Ensembl chr11:67,167,950...67,199,460 		JBrowse link
G Myhas myosin heavy chain gene antisense RNA ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr11:67,115,022...67,128,107
Ensembl chr11:67,102,082...67,128,399 		JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,495,601...41,503,132
Ensembl chr 4:41,495,604...41,503,076 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:40,270,591...40,279,421
Ensembl chr 4:40,270,591...40,279,421 		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 chr 4:40,970,906...41,025,992
Ensembl chr 4:40,970,906...41,025,993 		JBrowse link
G Nol6 nucleolar protein family 6 (RNA-associated) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,114,427...41,124,450
Ensembl chr 4:41,114,427...41,124,455 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,465,085...41,480,926
Ensembl chr 4:41,465,151...41,480,926 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,854,292...43,855,463
Ensembl chr 4:43,851,565...43,857,595 		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 chr 4:43,705,628...43,706,566
Ensembl chr 4:43,704,562...43,710,255 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:44,524,748...44,710,694
Ensembl chr 4:44,524,757...44,710,487 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:42,872,619...42,944,752
Ensembl chr 4:42,916,660...42,944,752 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,017,626...43,026,374
Ensembl chr 4:43,017,635...43,025,819 		JBrowse link
G Polr1e polymerase (RNA) I polypeptide E ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:45,018,609...45,034,279
Ensembl chr 4:45,018,583...45,036,565 		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 chr 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806 		JBrowse link
G Rgp1 RAB6A GEF compex partner 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,578,735...43,587,487
Ensembl chr 4:43,578,715...43,587,487 		JBrowse link
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:40,203,775...40,239,843
Ensembl chr 4:40,203,773...40,239,828 		JBrowse link
G Rmrp RNA component of mitochondrial RNAase P ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,788...43,493,058
Ensembl chr 4:43,492,788...43,493,058 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:44,126,210...44,233,929
Ensembl chr 4:44,126,210...44,233,789 		JBrowse link
G Rpp25l ribonuclease P/MRP 25 subunit-like ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,712,033...41,713,517
Ensembl chr 4:41,712,033...41,713,534 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,377,202...43,427,092
Ensembl chr 4:43,381,979...43,427,088 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,738,493...41,741,359
Ensembl chr 4:41,738,493...41,756,157 		JBrowse link
G Sit1 suppression inducing transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,482,083...43,483,709
Ensembl chr 4:43,482,081...43,483,734 		JBrowse link
G Smu1 smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:40,735,649...40,757,885
Ensembl chr 4:40,736,542...40,757,923 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,651,330...43,653,594
Ensembl chr 4:43,651,335...43,653,594 		JBrowse link
G Spink4 serine peptidase inhibitor, Kazal type 4 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:40,920,056...40,931,395
Ensembl chr 4:40,920,052...40,931,395 		JBrowse link
G Stoml2 stomatin (Epb7.2)-like 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,027,690...43,031,976
Ensembl chr 4:43,027,690...43,031,710 		JBrowse link
G Tesk1 testis specific protein kinase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,442,277...43,448,075
Ensembl chr 4:43,441,939...43,448,064 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,531,513...43,562,583
Ensembl chr 4:43,531,519...43,562,691 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:40,472,180...40,475,653
Ensembl chr 4:40,472,180...40,477,168 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,668,971...43,692,668
Ensembl chr 4:43,668,971...43,692,668 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:45,105,209...45,108,113
Ensembl chr 4:45,105,208...45,108,114 		JBrowse link
G Topors topoisomerase I binding, arginine/serine-rich ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:40,259,601...40,269,868
Ensembl chr 4:40,259,601...40,269,850 		JBrowse link
G Tpm2 tropomyosin 2, beta ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A OMIM
ClinVar		 PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 More... NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:45,297,075...45,316,134
Ensembl chr 4:45,297,127...45,316,131 		JBrowse link
G Try4 trypsin 4 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 6:41,279,206...41,282,467
Ensembl chr 6:41,279,203...41,282,466 		JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,348,996...41,389,766
Ensembl chr 4:41,348,996...41,390,525 		JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,194,313...41,276,016
Ensembl chr 4:41,194,313...41,275,144 		JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:41,136,021...41,193,370
Ensembl chr 4:41,135,743...41,193,380 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:43,046,193...43,264,873
Ensembl chr 4:43,058,953...43,264,871 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507 		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 chr 4:44,991,242...45,012,412
Ensembl chr 4:44,991,242...45,012,412 		JBrowse link
G Zcchc7 zinc finger, CCHC domain containing 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:44,756,556...44,932,215
Ensembl chr 4:44,755,877...44,932,215 		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 C, slow-type ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B OMIM
ClinVar		 PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 More... NCBI chr10:88,354,141...88,441,051
Ensembl chr10:88,354,141...88,441,014 		JBrowse link
distal arthrogryposis type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mylpf myosin light chain, phosphorylatable, fast skeletal muscle ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C OMIM
ClinVar		 PMID:32707087 NCBI chr 7:126,808,071...126,813,459
Ensembl chr 7:126,808,062...126,813,470 		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: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chr18:63,143,284...63,520,787
Ensembl chr18:63,143,284...63,520,254 		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 LOC111162622 DeltaNp63 promoter of tumor protein p63 ISO ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ClinVar NCBI chr16:25,620,454...25,621,054 JBrowse link
G Trp63 transformation related protein 63 susceptibility ISO
IAGP		 DNA:frameshift mutation, missense mutations: :multiple
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
CTD Direct Evidence: marker/mechanism
OMIM:604292
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A) 		ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr16:25,502,513...25,710,838
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 OMIM
ClinVar		 PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr10:34,027,385...34,084,267
Ensembl chr10:34,027,389...34,083,711 		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 DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)
ClinVar Annotator: match by term: Eiken syndrome		 ClinVar
OMIM
RGD		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 More... RGD:12910707 NCBI chr 9:110,551,132...110,576,213
Ensembl chr 9:110,551,153...110,576,213 		JBrowse link
Flatfoot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chr 4:107,761,179...107,780,786
Ensembl chr 4:107,761,178...107,780,807 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:20564469 PMID:24161884 PMID:25741868 PMID:28492532 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Hoxd10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 PMID:16450407 PMID:24239177 NCBI chr 2:74,514,617...74,525,450
Ensembl chr 2:74,522,268...74,525,449 		JBrowse link
G Jag1 jagged 1 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
Fuhrmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7a wingless-type MMTV integration site family, member 7A ISO
IAGP		 ClinVar Annotator: match by term: Fuhrmann syndrome
OMIM:228930		 OMIM
ClinVar
MouseDO		 PMID:9128926 PMID:16826533 PMID:25741868 PMID:28492532 NCBI chr 6:91,340,963...91,388,335
Ensembl chr 6:91,340,963...91,388,345 		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
IAGP		 hand-foot-genital syndrome, OMIM:140000
ClinVar Annotator: match by term: Hand-foot-genital syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 More... RGD:1599526 NCBI chr 6:52,235,833...52,237,865
Ensembl chr 6:52,234,674...52,237,788 		JBrowse link
G Hoxa9 homeobox A9 ISO ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar NCBI chr 6:52,200,077...52,204,350
Ensembl chr 6:52,200,080...52,208,069 		JBrowse link
Holt-Oram 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 DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:30067223 PMID:12843316 RGD:11556209 NCBI chr 2:168,590,252...168,609,121
Ensembl chr 2:168,590,252...168,609,863 		JBrowse link
G Tbx5 T-box 5 ISO
IAGP
IMP		 ClinVar Annotator: match by term: Holt-Oram syndrome
OMIM:142900
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G125R (human)
DNA:missense mutations, deletion:cds:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:10077612 More... RGD:1578428, RGD:7327219, RGD:7327217 NCBI chr 5:119,934,581...120,023,285
Ensembl chr 5:119,970,733...120,023,284 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Holt-Oram syndrome ClinVar PMID:24465802 PMID:25741868 PMID:26017485 PMID:28492532 PMID:28633253 More... NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		JBrowse link
Jackson-Weiss syndrome 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: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome OMIM
ClinVar		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr 8:26,008,775...26,065,734
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome
DNA:missense mutation:cds:p.R344G (human)		 OMIM
ClinVar
RGD		 PMID:1641873 PMID:7581378 PMID:7655462 PMID:7719329 PMID:7719344 More... RGD:12801470 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
Keipert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: Keipert syndrome OMIM
ClinVar		 PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:51,139,884...51,253,800
Ensembl chr  X:51,141,898...51,254,129 		JBrowse link
Laurin-Sandrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb region 1 ISO ClinVar Annotator: match by term: Laurin-Sandrow syndrome OMIM
ClinVar		 PMID:16059937 PMID:24456159 NCBI chr 5:29,434,800...29,583,414
Ensembl chr 5:29,434,800...29,583,388 		JBrowse link
G Zrs1 zone of polarising activity regulatory sequence 1 ISO ClinVar Annotator: match by term: Laurin-Sandrow syndrome ClinVar PMID:16059937 PMID:24456159 NCBI chr 5:29,519,495...29,520,860 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 NCBI chr14:58,308,131...58,350,311
Ensembl chr14:58,308,004...58,350,177 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:missense mutation:cds:p.R438L(1313G>T)(human)		 ClinVar
RGD		 PMID:16532400 RGD:12738199 NCBI chr 2:155,782,943...155,787,287
Ensembl chr 2:155,782,943...155,787,287 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human)		 ClinVar
OMIM
RGD		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158 		JBrowse link
Nicolaides Baraitser Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT rich interactive domain 1B (SWI-like) ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:159,567,304...159,777,677
Ensembl chr  X:159,554,919...159,777,700 		JBrowse link
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:159,548,815...159,584,800
Ensembl chr  X:159,551,009...159,582,659 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19606471 PMID:22366787 More... NCBI chr19:26,580,804...26,755,721
Ensembl chr19:26,582,450...26,755,722 		JBrowse link
oculodentodigital dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO
IAGP
IMP		 ClinVar Annotator: match by term: Oculodentodigital dysplasia
CTD Direct Evidence: marker/mechanism
OMIM:164200 | OMIM:257850
DNA:mutation:cd:p.G138R(mouse)
DNA:missense mutation:cds:p.P59H (human)
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation:cds:p.G60S (mouse)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... RGD:12910132, RGD:1578474, RGD:8662400, RGD:8662375, RGD:8662372 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive OMIM
ClinVar		 PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 More... NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr10:55,890,389...56,106,495
Ensembl chr10:55,890,389...56,104,785 		JBrowse link
Osteofibrous Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met met proto-oncogene susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteofibrous dysplasia | ClinVar Annotator: match by term: TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM | ClinVar Annotator: match by term: Tibia, bowing of, with pseudarthrosis and pectus excavatum		 CTD
ClinVar
OMIM		 PMID:1270474 PMID:9234973 PMID:11042681 PMID:12920089 PMID:14559814 More... NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
Patterson Stevenson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb region 1 ISO ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome OMIM
ClinVar		 PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... NCBI chr 5:29,434,800...29,583,414
Ensembl chr 5:29,434,800...29,583,388 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Rnf32 ring finger protein 32 ISO ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 5:29,397,743...29,432,633
Ensembl chr 5:29,400,990...29,433,455 		JBrowse link
G Shh sonic hedgehog ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
G Zrs1 zone of polarising activity regulatory sequence 1 ISO ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... NCBI chr 5:29,519,495...29,520,860 JBrowse link
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO
IAGP		 ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650		 OMIM
ClinVar
MouseDO		 PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 More... NCBI chr 1:192,835,420...192,854,344
Ensembl chr 1:192,835,419...192,854,331 		JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO
IAGP		 ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650		 ClinVar
MouseDO		 NCBI chr16:97,543,133...97,564,979
Ensembl chr16:97,543,133...97,564,987 		JBrowse link
Preaxial Polydactyly II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb region 1 ISO ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: Polydactyly, preaxial II OMIM
ClinVar		 PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 More... NCBI chr 5:29,434,800...29,583,414
Ensembl chr 5:29,434,800...29,583,388 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Shh sonic hedgehog ISO RGD PMID:20569257 PMID:18463159 RGD:12801447, RGD:12801448 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
G Zrs1 zone of polarising activity regulatory sequence 1 ISO ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 More... NCBI chr 5:29,519,495...29,520,860 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: Richieri Costa-Pereira syndrome OMIM
ClinVar		 PMID:24360810 NCBI chr11:119,179,189...119,190,869
Ensembl chr11:119,179,189...119,190,915 		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: Split hand-foot malformation 1 with sensorineural hearing loss OMIM
ClinVar		 PMID:22121204 NCBI chr 6:6,877,801...6,882,068
Ensembl chr 6:6,877,805...6,882,085 		JBrowse link
syndromic microphthalmia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx3 sorting nexin 3 ISO OMIM NCBI chr10:42,378,050...42,411,365
Ensembl chr10:42,378,026...42,411,377 		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: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr15:85,090,150...85,170,495
Ensembl chr15:85,090,150...85,170,736 		JBrowse link
Talipes Cavus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532 NCBI chr 1:17,202,028...17,234,495
Ensembl chr 1:17,215,586...17,234,495 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868 NCBI chr  X:100,419,982...100,429,235
Ensembl chr  X:100,419,984...100,429,235 		JBrowse link
G Hars histidyl-tRNA synthetase ISO ClinVar Annotator: match by term: Pes cavus ClinVar NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:7688964 PMID:8644725 PMID:8797476 PMID:10545037 PMID:10581375 More... NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699 		JBrowse link
G Nefl neurofilament, light polypeptide ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:19286384 More... NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868 PMID:26392352 PMID:26467025 PMID:26872463 PMID:28492532 NCBI chr18:62,086,002...62,148,790
Ensembl chr18:62,086,146...62,157,473 		JBrowse link
TARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: TARP syndrome OMIM
ClinVar		 PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 More... NCBI chr  X:20,483,596...20,517,128
Ensembl chr  X:20,483,742...20,517,140 		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
DNA:missense mutation:cds:c.682T>G (p.C228G)(human) 		OMIM
ClinVar
RGD		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 More... RGD:12801450 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158 		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 chr10:75,047,872...75,148,234
Ensembl chr10:75,047,905...75,148,577 		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:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More... NCBI chr  X:168,468,178...168,773,794
Ensembl chr  X:168,468,195...168,788,732 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO
IAGP		 ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1
OMIM:145420		 ClinVar
MouseDO
OMIM		 PMID:3228142 PMID:25412741 PMID:25741868 PMID:30472488 PMID:31953237 More... NCBI chr10:75,047,872...75,148,234
Ensembl chr10:75,047,905...75,148,577 		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: Teebi hypertelorism syndrome 2 ClinVar
OMIM		 PMID:33811546 NCBI chr 8:103,358,727...103,512,125
Ensembl chr 8:103,358,727...103,512,274 		JBrowse link
terminal osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Terminal osseous dysplasia | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome OMIM
ClinVar		 PMID:9536098 PMID:9800904 PMID:10982489 PMID:10982965 PMID:12612583 More... NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr15:51,903,503...51,909,118
Ensembl chr15:51,903,503...51,909,118 		JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr15:54,609,306...54,617,158
Ensembl chr15:54,609,098...54,617,435 		JBrowse link
G Colec10 collectin sub-family member 10 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr15:54,274,170...54,329,755
Ensembl chr15:54,274,170...54,329,754 		JBrowse link
G Eif3h eukaryotic translation initiation factor 3, subunit H ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr15:51,649,956...51,729,033
Ensembl chr15:51,649,954...51,728,919 		JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr15:54,702,297...54,816,284
Ensembl chr15:54,702,297...54,816,288 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr15:52,931,657...53,209,579
Ensembl chr15:52,927,434...53,209,555 		JBrowse link
G Mal2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr15:54,434,762...54,466,242
Ensembl chr15:54,434,588...54,466,243 		JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr15:52,575,841...52,593,827
Ensembl chr15:52,575,804...52,593,960 		JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr15:51,826,000...51,856,934
Ensembl chr15:51,825,636...51,855,143 		JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr15:53,262,514...53,765,926
Ensembl chr15:53,317,206...53,765,933 		JBrowse link
G Slc30a8 solute carrier family 30 (zinc transporter), member 8 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr15:52,158,949...52,199,194
Ensembl chr15:52,158,949...52,199,194 		JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr15:54,878,525...54,935,580
Ensembl chr15:54,878,527...54,935,548 		JBrowse link
G Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr15:54,114,014...54,141,880
Ensembl chr15:54,114,015...54,141,880 		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:10679937 PMID:11112658 PMID:11391482 More... NCBI chr15:50,518,149...50,754,027
Ensembl chr15:50,518,148...50,753,859 		JBrowse link
G Utp23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr15:51,740,837...51,748,018
Ensembl chr15:51,740,825...51,748,010 		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 chr 7:105,402,196...105,437,562
Ensembl chr 7:105,402,197...105,436,861 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Van Maldergem syndrome		 CTD
ClinVar		 PMID:24033266 PMID:24056717 NCBI chr 3:38,940,045...39,066,136
Ensembl chr 3:38,941,089...39,066,134 		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 NCBI chr 7:105,402,196...105,437,562
Ensembl chr 7:105,402,197...105,436,861 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:28492532 NCBI chr 3:38,940,045...39,066,136
Ensembl chr 3:38,941,089...39,066,134 		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: Van Maldergem syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 More... NCBI chr 3:38,940,045...39,066,136
Ensembl chr 3:38,941,089...39,066,134 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18168
    disease of anatomical entity 15602
      musculoskeletal system disease 7949
        Musculoskeletal Abnormalities 3407
          Congenital Limb Deformities 1091
            Lower Extremity Deformities, Congenital 198
              Congenital Foot Deformities + 190
              Corneodermatoosseous Syndrome 0
              Ectrodactyly Cardiopathy Dysmorphism 0
              Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 0
              Familial Streblodactyly 0
              Holt-Oram syndrome 3
              Keipert syndrome 1
              Merlob Grunebaum Reisner Syndrome 0
              Osteofibrous Dysplasia 1
              popliteal pterygium syndrome + 3
Path 2
Term Annotations click to browse term
  disease 18168
    Developmental Disease 17686
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17522
        Congenital Abnormalities 7499
          Musculoskeletal Abnormalities 3407
            Congenital Limb Deformities 1091
              Lower Extremity Deformities, Congenital 198
                Congenital Foot Deformities + 190
                Corneodermatoosseous Syndrome 0
                Ectrodactyly Cardiopathy Dysmorphism 0
                Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 0
                Familial Streblodactyly 0
                Holt-Oram syndrome 3
                Keipert syndrome 1
                Merlob Grunebaum Reisner Syndrome 0
                Osteofibrous Dysplasia 1
                popliteal pterygium syndrome + 3
paths to the root