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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:Foot Deformities
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Accession:DOID:9003938 term browser browse the term
Definition:Alterations or deviations from normal shape or size which result in a disfigurement of the foot.
Synonyms:exact_synonym: Foot Deformity;   Metatarsal Deformities;   Metatarsal Deformity
 primary_id: MESH:D005530;   RDO:0000726
For additional species annotation, visit the Alliance of Genome Resources.


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Foot Deformities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Foot deformity ClinVar PMID:30311386 NCBI chrNW_004955435:7,352,617...7,545,235
Ensembl chrNW_004955435:7,352,617...7,545,235
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Foot deformity ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chrNW_004955406:13,964,087...13,991,691
Ensembl chrNW_004955406:13,964,087...13,991,691
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Foot deformity ClinVar PMID:20008656, PMID:30311386 NCBI chrNW_004955486:1,937,873...1,962,577
Ensembl chrNW_004955486:1,937,802...1,962,772
JBrowse link
acheiropody term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO OMIM NCBI chrNW_004955491:9,171,462...9,217,996 JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeobox D13 ISO OMIM NCBI chrNW_004955403:20,568,314...20,575,579
Ensembl chrNW_004955403:20,568,314...20,575,579
JBrowse link
brachydactyly type E2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pthlh parathyroid hormone like hormone ISO OMIM NCBI chrNW_004955505:6,834,533...6,846,909
Ensembl chrNW_004955505:6,834,533...6,847,335
JBrowse link
Bunion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta-synthase ISO ClinVar Annotator: match by term: Bunion ClinVar PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7611293, PMID:7635485, PMID:7762555, PMID:8554066, PMID:8803779, PMID:8940271, PMID:9708897, PMID:9864922, PMID:10328723, PMID:10338090, PMID:10364517, PMID:10807759, PMID:11230183, PMID:11359213, PMID:11434706, PMID:12552044, PMID:14722927, PMID:15146473, PMID:16375773, PMID:17072863, PMID:17540596, PMID:18201569, PMID:18805305, PMID:19819175, PMID:20506325, PMID:20567906, PMID:22069143, PMID:22267502, PMID:23592311, PMID:24033266, PMID:25516723, PMID:25741868, PMID:26750749, PMID:28492532, PMID:28583326, PMID:30311386 NCBI chrNW_004955407:38,924,355...38,939,790 JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Bunion ClinVar PMID:7832988, PMID:8051923, PMID:8698850, PMID:8892022, PMID:9323575, PMID:9439663, PMID:9470816, PMID:9686374, PMID:10071185, PMID:10657402, PMID:10803677, PMID:11156223, PMID:11350878, PMID:11555601, PMID:11895907, PMID:11953843, PMID:11988088, PMID:12209976, PMID:12360106, PMID:12912951, PMID:15017333, PMID:15858133, PMID:16151913, PMID:16361556, PMID:17000685, PMID:17064846, PMID:17121937, PMID:17165084, PMID:17203168, PMID:17335544, PMID:17700593, PMID:18299612, PMID:18443386, PMID:18600527, PMID:19104657, PMID:19473056, PMID:19795123, PMID:19858398, PMID:20385995, PMID:20507294, PMID:20530282, PMID:20803296, PMID:20809970, PMID:20819423, PMID:21410976, PMID:21498394, PMID:21723269, PMID:21919607, PMID:22339448, PMID:22992668, PMID:23328581, PMID:23335937, PMID:23481061, PMID:23585145, PMID:23603345, PMID:23736036, PMID:23930673, PMID:24167597, PMID:24590654, PMID:24647007, PMID:24648345, PMID:24700034, PMID:24817302, PMID:24923815, PMID:25381393, PMID:25410891, PMID:25590979, PMID:25677447, PMID:25741868, PMID:26099996, PMID:26216193, PMID:26265035, PMID:26467025, PMID:26603945, PMID:26794347, PMID:26804652, PMID:26846104, PMID:26967565, PMID:27454530, PMID:27738344, PMID:27864592, PMID:28295243, PMID:28481884, PMID:28929491, PMID:29065426, PMID:29134491, PMID:29152729, PMID:30348537 NCBI chrNW_004955435:2,007,185...2,800,907
Ensembl chrNW_004955435:2,007,185...2,766,138
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Bunion ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955415:13,470,268...13,499,500
Ensembl chrNW_004955415:13,470,701...13,499,422
JBrowse link
Camptosynpolydactyly, Complex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhlha9 basic helix-loop-helix family member a9 ISO OMIM NCBI chrNW_004955481:2,769,023...2,770,269
Ensembl chrNW_004955481:2,769,072...2,769,833
JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO OMIM NCBI chrNW_004955555:869,508...892,510 JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf ETS2 repressor factor ISO OMIM NCBI chrNW_004955555:654,945...661,097
Ensembl chrNW_004955555:654,414...665,277
JBrowse link
clubfoot term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868 NCBI chrNW_004955484:3,090,678...3,115,224
Ensembl chrNW_004955484:3,089,235...3,115,230
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:19466712, PMID:19777577, PMID:25741868, PMID:26092869, PMID:28492532, PMID:30311386 NCBI chrNW_004955480:8,404,239...8,514,792
Ensembl chrNW_004955480:8,400,284...8,514,736
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chrNW_004955444:17,859,999...18,067,623
Ensembl chrNW_004955444:17,858,771...18,067,248
JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20004762 NCBI chrNW_004955416:7,391,281...7,393,137
Ensembl chrNW_004955416:7,391,282...7,392,355
JBrowse link
G Cltc clathrin heavy chain ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chrNW_004955451:3,380,304...3,445,973
Ensembl chrNW_004955451:3,380,304...3,445,973
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955513:3,533,612...3,660,605
Ensembl chrNW_004955513:3,533,614...3,658,161
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chrNW_004955406:13,964,087...13,991,691
Ensembl chrNW_004955406:13,964,087...13,991,691
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:8259166, PMID:8737829, PMID:9024557, PMID:9653161, PMID:9683613, PMID:10677299, PMID:10807690, PMID:10814720, PMID:10995508, PMID:11161831, PMID:11175299, PMID:11241839, PMID:11427181, PMID:11562938, PMID:12794707, PMID:15286151, PMID:15464432, PMID:15776424, PMID:15952211, PMID:16761297, PMID:16906538, PMID:17965227, PMID:18285838, PMID:19365639, PMID:20635399, PMID:21777499, PMID:22438180, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23918729, PMID:24033266, PMID:24824134, PMID:25108116, PMID:25741868, PMID:25807282, PMID:26467025, PMID:28166604, PMID:28492532, PMID:30311386 NCBI chrNW_004955422:15,119,155...15,136,771
Ensembl chrNW_004955422:15,119,173...15,136,771
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542
JBrowse link
G Flnb filamin B 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 chrNW_004955430:7,680,394...7,832,124
Ensembl chrNW_004955430:7,680,394...7,832,124
JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:19925654 RGD:12738235 NCBI chrNW_004955460:1,528,457...1,805,584
Ensembl chrNW_004955460:1,528,412...1,805,918
JBrowse link
G Hoxd12 homeobox D12 ISO DNA:SNP:5' utr:rs847154 (human) RGD PMID:16331564 RGD:12743594 NCBI chrNW_004955403:20,562,248...20,563,205
Ensembl chrNW_004955403:20,562,248...20,563,205
JBrowse link
G Hoxd13 homeobox D13 ISO DNA:SNP:exon:rs13392701 (human) RGD PMID:16331564 RGD:12743594 NCBI chrNW_004955403:20,568,314...20,575,579
Ensembl chrNW_004955403:20,568,314...20,575,579
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:15786477, PMID:19668216, PMID:25741868, PMID:28492532, PMID:29186038 NCBI chrNW_004955513:4,304,483...4,313,087
Ensembl chrNW_004955513:4,304,483...4,313,087
JBrowse link
G Kiaa1109 KIAA1109 ortholog ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868, PMID:29290337, PMID:31680349 NCBI chrNW_004955428:18,224,987...18,424,425
Ensembl chrNW_004955428:18,224,987...18,424,425
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chrNW_004955419:1,782,566...1,857,375
Ensembl chrNW_004955419:1,782,566...1,857,375
JBrowse link
G LOC102010850 cytochrome P450 1A1 ISO DNA:missense mutation:exon:rs1048943 (1384A>G) (p.I462V) (human) RGD PMID:21254355 RGD:11576307 NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488
JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chrNW_004955455:14,679,416...14,960,226
Ensembl chrNW_004955455:14,679,416...14,957,532
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936070 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Myh13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chrNW_004955467:6,816,393...6,872,754
Ensembl chrNW_004955467:6,816,393...6,872,754
JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chrNW_004955475:11,062,258...11,112,252
Ensembl chrNW_004955475:11,062,076...11,114,169
JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:9090383, PMID:11781871, PMID:12325024, PMID:23572185, PMID:25741868, PMID:26408048, PMID:28492532, PMID:30311386 NCBI chrNW_004955439:71,302...138,278
Ensembl chrNW_004955439:71,302...138,278
JBrowse link
G Pitx1 paired like homeodomain 1 ISO OMIM NCBI chrNW_004955408:30,197,374...30,202,887
Ensembl chrNW_004955408:30,197,061...30,203,054
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868 NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377
JBrowse link
G Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868 NCBI chrNW_004955474:11,392,163...11,473,918
Ensembl chrNW_004955474:11,392,163...11,475,508
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chrNW_004955464:12,076,815...12,086,961
Ensembl chrNW_004955464:12,077,406...12,086,700
JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:11992261, PMID:12717436, PMID:12960218, PMID:15001945, PMID:15248152, PMID:15761018, PMID:15985475, PMID:15987685, PMID:15996221, PMID:16124853, PMID:16358218, PMID:16377799, PMID:16804314, PMID:17020470, PMID:17497712, PMID:17661820, PMID:18678287, PMID:18854871, PMID:19020799, PMID:19077116, PMID:20718194, PMID:21340158, PMID:22190897, PMID:22465605, PMID:22781091, PMID:24033266, PMID:24451042, PMID:25595571, PMID:25741868, PMID:25741869, PMID:26467025, PMID:26822237, PMID:27626068, PMID:28492532, PMID:30311386 NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:18253, PMID:7299413, PMID:16380615, PMID:17033962, PMID:17365175, PMID:17483490, PMID:30311386 NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Talipes equinovarus ClinVar PMID:16007086, PMID:16007087, PMID:16630947, PMID:16782407, PMID:17192819, PMID:17392797, PMID:17392798, PMID:17464555, PMID:17492055, PMID:17917015, PMID:17983875, PMID:18981294, PMID:19210517, PMID:19392801, PMID:19629655, PMID:19779048, PMID:20006554, PMID:20889194, PMID:21419480, PMID:21458042, PMID:21547394, PMID:21850030, PMID:22076597, PMID:22627058, PMID:22697072, PMID:22699762, PMID:22884984, PMID:22983507, PMID:23237420, PMID:24033266, PMID:24051380, PMID:25174870, PMID:25326637, PMID:25741868, PMID:26100089, PMID:26122175, PMID:26727773, PMID:27123465, PMID:27577878, PMID:28492532, PMID:29114388, PMID:29146883, PMID:29555771, PMID:29867916 NCBI chrNW_004955577:930,612...971,698 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, PMID:24789864, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chrNW_004955464:12,089,589...12,095,000
Ensembl chrNW_004955464:12,090,038...12,094,827
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:23861362, PMID:25741868, PMID:30311386 NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
G Tubb4a tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chrNW_004955495:3,134,181...3,138,725
Ensembl chrNW_004955495:3,133,429...3,139,552
JBrowse link
G Unc13c unc-13 homolog C ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chrNW_004955409:889,912...1,325,136
Ensembl chrNW_004955409:891,347...1,325,164
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Talipes equinovarus ClinVar PMID:25741868 NCBI chrNW_004955435:18,890,995...18,933,258
Ensembl chrNW_004955435:18,882,565...18,933,258
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chrNW_004955443:8,053,847...8,122,918
Ensembl chrNW_004955443:8,053,847...8,123,110
JBrowse link
G Wdr26 WD repeat domain 26 ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:30311386 NCBI chrNW_004955520:950,505...983,963
Ensembl chrNW_004955520:950,502...986,929
JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chrNW_004955475:4,569,263...4,604,571
Ensembl chrNW_004955475:4,568,005...4,604,577
JBrowse link
Congenital Foot Deformities term browser
Symbol Object Name 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 chrNW_004955475:1,703,374...1,752,710
Ensembl chrNW_004955475:1,703,374...1,752,710
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 chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
G Pthlh parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chrNW_004955505:6,834,533...6,846,909
Ensembl chrNW_004955505:6,834,533...6,847,335
JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chrNW_004955420:18,178,639...18,384,786
Ensembl chrNW_004955420:18,176,155...18,384,786
JBrowse link
congenital vertical talus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Congenital vertical talus ClinVar PMID:10508521, PMID:15024725, PMID:20956273, PMID:22968130, PMID:23105016, PMID:23449718, PMID:24715753, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chrNW_004955406:33,817,754...34,005,937
Ensembl chrNW_004955406:33,817,605...34,005,943
JBrowse link
G Hoxd10 homeobox D10 ISO OMIM NCBI chrNW_004955403:20,543,224...20,548,801
Ensembl chrNW_004955403:20,543,224...20,548,801
JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo type mechanosensitive ion channel component 2 ISO OMIM NCBI chrNW_004955402:1,534,619...1,873,143
Ensembl chrNW_004955402:1,650,726...1,871,876
JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO OMIM NCBI chrNW_004955420:18,178,639...18,384,786
Ensembl chrNW_004955420:18,176,155...18,384,786
JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO OMIM NCBI chrNW_004955526:348,673...393,328 JBrowse link
Eiken syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO OMIM NCBI chrNW_004955420:25,274,269...25,291,984
Ensembl chrNW_004955420:25,273,431...25,296,471
JBrowse link
Flatfoot term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:16086317, PMID:30311386 NCBI chrNW_004955442:865,292...921,739
Ensembl chrNW_004955442:865,238...922,221
JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chrNW_004955476:2,705,596...2,777,848
Ensembl chrNW_004955476:2,694,258...2,779,304
JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chrNW_004955409:3,476,527...3,532,683 JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chrNW_004955439:5,041,111...5,454,692
Ensembl chrNW_004955439:5,043,967...5,412,741
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:11007540, PMID:20179744, PMID:22496037, PMID:22522174, PMID:26747767, PMID:27390512, PMID:28492532, PMID:29453956, PMID:30181686, PMID:30311386 NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955513:3,533,612...3,660,605
Ensembl chrNW_004955513:3,533,614...3,658,161
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:30311386 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Foxp2 forkhead box P2 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955432:20,205,369...20,589,608
Ensembl chrNW_004955432:20,334,237...20,589,352
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:1974409, PMID:2269438, PMID:2502917, PMID:7475546, PMID:7627184, PMID:8213821, PMID:8294487, PMID:8544197, PMID:8790604, PMID:9040001, PMID:10636167, PMID:11148530, PMID:11359469, PMID:11933202, PMID:11992489, PMID:12838552, PMID:15146461, PMID:16061944, PMID:16293621, PMID:17427031, PMID:18586596, PMID:19816973, PMID:20816920, PMID:21257328, PMID:21742527, PMID:21745757, PMID:23588557, PMID:24126159, PMID:25741868, PMID:25946768, PMID:27312774, PMID:27717005, PMID:28492532, PMID:30311386 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082
JBrowse link
G Gorab golgin, RAB6 interacting ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:30311386 NCBI chrNW_004955462:6,807,618...6,824,296
Ensembl chrNW_004955462:6,807,707...6,825,935
JBrowse link
G Hoxd10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Talipes calcaneovalgus
CTD
ClinVar
PMID:15146389, PMID:16450407, PMID:24239177, PMID:30311386 NCBI chrNW_004955403:20,543,224...20,548,801
Ensembl chrNW_004955403:20,543,224...20,548,801
JBrowse link
G Kif2a kinesin family member 2A ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chrNW_004955446:6,244,547...6,279,080
Ensembl chrNW_004955446:6,244,547...6,279,089
JBrowse link
G Lamp2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chrNW_004955572:1,423,048...1,464,443
Ensembl chrNW_004955572:1,422,981...1,462,622
JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chrNW_004955514:1,040,103...1,069,297
Ensembl chrNW_004955514:1,042,307...1,069,114
JBrowse link
G Mto1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:23929671, PMID:25741868, PMID:28492532, PMID:29331171, PMID:29440775, PMID:30311386 NCBI chrNW_004955493:8,636,093...8,655,090 JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chrNW_004955402:42,339,380...42,688,661
Ensembl chrNW_004955402:42,339,380...42,688,714
JBrowse link
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chrNW_004955562:780,172...786,049
Ensembl chrNW_004955562:780,189...968,083
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chrNW_004955475:10,712,170...10,735,857
Ensembl chrNW_004955475:10,712,170...10,735,857
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:8088845, PMID:8098245, PMID:8268925, PMID:8889590, PMID:10472529, PMID:10479481, PMID:11180595, PMID:12409276, PMID:12501224, PMID:12655552, PMID:15557004, PMID:17935162, PMID:19292873, PMID:19394257, PMID:21147011, PMID:21871829, PMID:22300847, PMID:22513348, PMID:22763404, PMID:23500595, PMID:23792259, PMID:24048906, PMID:25596310, PMID:25741868, PMID:26666653, PMID:26803807, PMID:28492532, PMID:30311386 NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457
JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971
JBrowse link
G Sec23b SEC23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:19561605, PMID:19621418, PMID:25044164, PMID:28492532, PMID:30311386 NCBI chrNW_004955415:27,044,694...27,075,028
Ensembl chrNW_004955415:27,044,695...27,075,028
JBrowse link
G Set SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chrNW_004955570:1,104,447...1,117,682 JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chrNW_004955440:10,755,658...10,881,044
Ensembl chrNW_004955440:10,756,014...10,795,491
JBrowse link
Fuhrmann syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7a Wnt family member 7A ISO OMIM NCBI chrNW_004955429:12,647,993...12,693,998
Ensembl chrNW_004955429:12,647,993...12,694,895
JBrowse link
Hallux Valgus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta-synthase ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7611293, PMID:7635485, PMID:7762555, PMID:8554066, PMID:8803779, PMID:8940271, PMID:9708897, PMID:9864922, PMID:10328723, PMID:10338090, PMID:10364517, PMID:10807759, PMID:11230183, PMID:11359213, PMID:11434706, PMID:12552044, PMID:14722927, PMID:15146473, PMID:16375773, PMID:17072863, PMID:17540596, PMID:18201569, PMID:18805305, PMID:19819175, PMID:20506325, PMID:20567906, PMID:22069143, PMID:22267502, PMID:23592311, PMID:24033266, PMID:25516723, PMID:25741868, PMID:26750749, PMID:28492532, PMID:28583326, PMID:30311386 NCBI chrNW_004955407:38,924,355...38,939,790 JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:7832988, PMID:8051923, PMID:8698850, PMID:8892022, PMID:9323575, PMID:9439663, PMID:9470816, PMID:9686374, PMID:10071185, PMID:10657402, PMID:10803677, PMID:11156223, PMID:11350878, PMID:11555601, PMID:11895907, PMID:11953843, PMID:11988088, PMID:12209976, PMID:12360106, PMID:12912951, PMID:15017333, PMID:15858133, PMID:16151913, PMID:16361556, PMID:17000685, PMID:17064846, PMID:17121937, PMID:17165084, PMID:17203168, PMID:17335544, PMID:17700593, PMID:18299612, PMID:18443386, PMID:18600527, PMID:19104657, PMID:19473056, PMID:19795123, PMID:19858398, PMID:20385995, PMID:20507294, PMID:20530282, PMID:20803296, PMID:20809970, PMID:20819423, PMID:21410976, PMID:21498394, PMID:21723269, PMID:21919607, PMID:22339448, PMID:22992668, PMID:23328581, PMID:23335937, PMID:23481061, PMID:23585145, PMID:23603345, PMID:23736036, PMID:23930673, PMID:24167597, PMID:24590654, PMID:24647007, PMID:24648345, PMID:24700034, PMID:24817302, PMID:24923815, PMID:25381393, PMID:25410891, PMID:25590979, PMID:25677447, PMID:25741868, PMID:26099996, PMID:26216193, PMID:26265035, PMID:26467025, PMID:26603945, PMID:26794347, PMID:26804652, PMID:26846104, PMID:26967565, PMID:27454530, PMID:27738344, PMID:27864592, PMID:28295243, PMID:28481884, PMID:28929491, PMID:29065426, PMID:29134491, PMID:29152729, PMID:30348537 NCBI chrNW_004955435:2,007,185...2,800,907
Ensembl chrNW_004955435:2,007,185...2,766,138
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:30311386 NCBI chrNW_004955441:471,609...521,920
Ensembl chrNW_004955441:485,815...520,452
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:30311386 NCBI chrNW_004955416:11,084,448...11,168,478
Ensembl chrNW_004955416:11,086,176...11,168,332
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955415:13,470,268...13,499,500
Ensembl chrNW_004955415:13,470,701...13,499,422
JBrowse link
Hammer Toe Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:1537368, PMID:6243664, PMID:11159947, PMID:12752575, PMID:16098009, PMID:18628786, PMID:25741868, PMID:26622478, PMID:30311386 NCBI chrNW_004955458:567,487...577,228
Ensembl chrNW_004955458:567,518...577,372
JBrowse link
G Atxn2 ataxin 2 ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:30311386 NCBI chrNW_004955482:8,101,410...8,187,815
Ensembl chrNW_004955482:8,101,917...8,216,219
JBrowse link
G Gjb1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:16096811, PMID:21291455, PMID:22243284, PMID:25388846, PMID:25741868, PMID:26467025, PMID:28448691, PMID:28492532, PMID:30311386 NCBI chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:14506069, PMID:25741868, PMID:28492532 NCBI chrNW_004955422:17,017,855...17,047,724
Ensembl chrNW_004955422:17,017,358...17,048,650
JBrowse link
G Mme membrane metalloendopeptidase ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:15464186, PMID:25565308, PMID:27588448, PMID:28492532, PMID:30311386 NCBI chrNW_004955448:6,193,113...6,311,666
Ensembl chrNW_004955448:6,226,059...6,314,949
JBrowse link
hand-foot-genital syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeobox A13 ISO OMIM NCBI chrNW_004955410:28,887,952...28,893,515
Ensembl chrNW_004955410:28,890,171...28,893,515
JBrowse link
Jackson-Weiss syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 fibroblast growth factor receptor 1 ISO OMIM NCBI chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO OMIM NCBI chrNW_004955551:2,321,190...2,427,000 JBrowse link
Laurin-Sandrow syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO OMIM NCBI chrNW_004955491:9,171,462...9,217,996 JBrowse link
Multiple Synostoses Syndrome 1 term browser
Symbol Object Name 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 chrNW_004955497:2,199,424...2,232,088
Ensembl chrNW_004955497:2,199,409...2,235,893
JBrowse link
G Gdf5 growth differentiation factor 5 ISO DNA:missense mutation:cds:p.R438L(1313G>T)(human)
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
RGD
ClinVar
PMID:16532400 RGD:12738199 NCBI chrNW_004955422:25,992,081...25,997,122
Ensembl chrNW_004955422:25,992,081...25,997,122
JBrowse link
G Nog noggin ISO OMIM NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740
JBrowse link
Nicolaides Baraitser Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chrNW_004955439:5,041,111...5,454,692
Ensembl chrNW_004955439:5,043,967...5,412,741
JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO OMIM NCBI chrNW_004955434:6,420,850...6,592,797
Ensembl chrNW_004955434:6,420,854...6,594,425
JBrowse link
oculodentodigital dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein alpha 1 ISO OMIM NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein alpha 1 ISO OMIM NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
JBrowse link
Patterson Stevenson Syndrome term browser
Symbol Object Name 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 polysyndactyly syndrome ClinVar PMID:17300748, PMID:18178630, PMID:18417549 NCBI chrNW_004955491:9,171,462...9,217,996 JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chrNW_004955491:8,647,133...8,657,381 JBrowse link
Preaxial Polydactyly II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO OMIM NCBI chrNW_004955491:9,171,462...9,217,996 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 chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:18463159, PMID:20569257 RGD:12801447, RGD:12801448 NCBI chrNW_004955491:8,647,133...8,657,381 JBrowse link
Richieri Costa Pereira Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif4a3 eukaryotic translation initiation factor 4A3 ISO OMIM NCBI chrNW_004955506:2,749,534...2,760,873
Ensembl chrNW_004955506:2,749,534...2,760,873
JBrowse link
split hand-foot malformation 1 with sensorineural hearing loss term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx5 distal-less homeobox 5 ISO OMIM NCBI chrNW_004955432:13,429,832...13,434,160
Ensembl chrNW_004955432:13,429,415...13,434,258
JBrowse link
syndromic microphthalmia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx3 sorting nexin 3 ISO OMIM NCBI chrNW_004955411:33,339,974...33,344,563
Ensembl chrNW_004955411:33,340,274...33,345,500
JBrowse link
Synpolydactyly 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISO OMIM NCBI chrNW_004955413:29,837,134...29,911,313
Ensembl chrNW_004955413:29,837,134...29,912,222
JBrowse link
Talipes Cavus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:1537368, PMID:6243664, PMID:11159947, PMID:12752575, PMID:16098009, PMID:18628786, PMID:25741868, PMID:26622478, PMID:30311386 NCBI chrNW_004955458:567,487...577,228
Ensembl chrNW_004955458:567,518...577,372
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393
JBrowse link
G Atxn1 ataxin 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chrNW_004955483:9,159,877...9,559,453
Ensembl chrNW_004955483:9,536,261...9,552,321
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:22539353, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955444:17,859,999...18,067,623
Ensembl chrNW_004955444:17,858,771...18,067,248
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chrNW_004955462:103,501...163,472
Ensembl chrNW_004955462:103,598...162,344
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111
JBrowse link
G Gjb1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar NCBI chrNW_004955418:19,346...30,514
Ensembl chrNW_004955418:19,346...30,514
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:18832141, PMID:22176143, PMID:25741868, PMID:25965061, PMID:27816334, PMID:28144995, PMID:28492532, PMID:28595321, PMID:29381233, PMID:30311386 NCBI chrNW_004955844:8,094...9,565
Ensembl chrNW_004955844:7,790...10,004
JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chrNW_004955514:474,830...488,007
Ensembl chrNW_004955514:475,731...488,007
JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chrNW_004955538:3,154,670...3,176,510
Ensembl chrNW_004955538:3,163,940...3,178,832
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
G LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:9802883, PMID:18252231, PMID:19812052, PMID:28492532, PMID:30311386 NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426
JBrowse link
G Mme membrane metalloendopeptidase ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:15464186, PMID:24033266, PMID:25565308, PMID:27588448, PMID:28492532, PMID:30311386 NCBI chrNW_004955448:6,193,113...6,311,666
Ensembl chrNW_004955448:6,226,059...6,314,949
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:7688964, PMID:8644725, PMID:8797476, PMID:10581375, PMID:10737979, PMID:11437164, PMID:12221176, PMID:12477701, PMID:15050444, PMID:20215982, PMID:20461396, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chrNW_004955468:13,041,911...13,047,026
Ensembl chrNW_004955468:13,041,011...13,047,284
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:12481988, PMID:15111691, PMID:16452125, PMID:19286384, PMID:21168446, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532, PMID:29358611, PMID:30311386 NCBI chrNW_004955449:7,858,156...8,017,569
Ensembl chrNW_004955449:7,923,801...8,017,569
JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chrNW_004955514:476,062...484,710
Ensembl chrNW_004955514:475,731...479,616
JBrowse link
G Sptlc2 serine palmitoyltransferase long chain base subunit 2 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chrNW_004955438:1,385,431...1,491,534
Ensembl chrNW_004955438:1,385,431...1,491,578
JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chrNW_004955545:715,860...746,580
Ensembl chrNW_004955545:715,280...746,575
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
G Ttpa alpha tocopherol transfer protein ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:7719340, PMID:8602747, PMID:9463307, PMID:9588854, PMID:11013295, PMID:12112220, PMID:12470185, PMID:15300460, PMID:23445347, PMID:24033266, PMID:25614784, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chrNW_004955444:15,877,972...15,891,949
Ensembl chrNW_004955444:15,869,940...15,894,544
JBrowse link
TARP syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbm10 RNA binding motif protein 10 ISO OMIM NCBI chrNW_004955516:904,852...934,313
Ensembl chrNW_004955516:904,062...934,313
JBrowse link
tarsal-carpal coalition syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin ISO OMIM NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740
JBrowse link
terminal osseous dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO OMIM NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trps1 transcriptional repressor GATA binding 1 ISO OMIM NCBI chrNW_004955417:21,674,545...21,913,137
Ensembl chrNW_004955417:21,680,116...21,913,173
JBrowse link
Van Maldergem syndrome term browser
Symbol Object Name 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 chrNW_004955414:22,331,590...22,365,761
Ensembl chrNW_004955414:22,332,059...22,351,576
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 chrNW_004955428:15,621,333...15,812,167
Ensembl chrNW_004955428:15,622,498...15,810,896
JBrowse link
Van Maldergem syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dchs1 dachsous cadherin-related 1 ISO OMIM NCBI chrNW_004955414:22,331,590...22,365,761
Ensembl chrNW_004955414:22,332,059...22,351,576
JBrowse link
Van Maldergem syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat4 FAT atypical cadherin 4 ISO OMIM NCBI chrNW_004955428:15,621,333...15,812,167
Ensembl chrNW_004955428:15,622,498...15,810,896
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11834
    disease of anatomical entity 11389
      musculoskeletal system disease 4950
        Foot Deformities 127
          Congenital Foot Deformities + 117
          Foot Deformities, Acquired + 94
          Hallux Valgus + 6
          Hallux Varus + 0
          Hammer Toe Syndrome 5
          Kantaputra Gorlin Syndrome 0
          Krauss Herman Holmes Syndrome 0
          Metatarsal Valgus 0
          Metatarsus Varus 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.