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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.


show annotations for term's descendants           Sort by:
 
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 chr 4:115,638,381...115,841,679
Ensembl chr 4:115,540,950...115,840,708
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 chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,982...116,139,427
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Foot deformity ClinVar PMID:20008656, PMID:30311386 NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,026,722...72,056,439
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 chr18:1,795,462...1,934,951
Ensembl chr18:1,795,490...1,934,949
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 chr15:81,893,997...81,897,965
Ensembl chr15:81,894,121...81,898,944
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 chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415
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 chr13:206,205,942...206,231,363 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 chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,458...120,712,462
JBrowse link
G TGM6 transglutaminase 6 ISO ClinVar Annotator: match by term: Bunion ClinVar PMID:25741868, PMID:30311386 NCBI chr17:33,106,974...33,142,548
Ensembl chr17:33,108,569...33,155,069
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 chr12:46,641,389...46,643,923
Ensembl chr12:46,642,545...46,643,219
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 chr 6:49,905,851...49,927,437 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 chr 6:49,678,858...49,686,422
Ensembl chr 6:49,678,871...49,685,538
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 chr 6:13,298,336...13,321,423
Ensembl chr 6:13,298,348...13,321,364
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 chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,332...10,898,193
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,571,874...72,754,432
JBrowse link
G CHST14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20004762 NCBI chr 1:130,845,103...130,847,203 JBrowse link
G CLTC clathrin heavy chain ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr12:35,848,894...35,926,028
Ensembl chr12:35,849,136...35,926,023
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868, PMID:30311386 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868, PMID:30311386 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,426
JBrowse link
G CYP1A1 cytochrome P450 1A1 ISO DNA:missense mutation:exon:rs1048943 (1384A>G) (p.I462V) (human) RGD PMID:21254355 RGD:11576307 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,780,105...58,809,755
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 chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,982...116,139,427
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 chr 2:2,377,352...2,391,846
Ensembl chr 2:2,377,416...2,391,448
JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,223...29,181,689
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 chr13:39,789,259...39,938,751
Ensembl chr13:39,789,703...39,938,750
JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:19925654 RGD:12738235 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,071...52,697,903
JBrowse link
G HOXD12 homeobox D12 ISO DNA:SNP:5' utr:rs847154 (human) RGD PMID:16331564 RGD:12743594 NCBI chr15:81,900,962...81,902,327
Ensembl chr15:81,901,032...81,901,994
JBrowse link
G HOXD13 homeobox D13 ISO DNA:SNP:exon:rs13392701 (human) RGD PMID:16331564 RGD:12743594 NCBI chr15:81,893,997...81,897,965
Ensembl chr15:81,894,121...81,898,944
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
G KIAA1109 KIAA1109 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868, PMID:29290337, PMID:31680349 NCBI chr 8:101,737,084...101,937,212
Ensembl chr 8:101,737,086...101,937,156
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr 5:15,049,827...15,091,622 JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chr 1:267,207,273...267,290,862
Ensembl chr 1:267,207,561...267,291,145
JBrowse link
G LOC110255887 myosin-8 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr12:55,135,651...55,166,983
Ensembl chr12:55,134,844...55,167,749
JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr14:36,061,834...36,384,567
Ensembl chr14:36,064,067...36,384,562
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936070 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MYH13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr12:55,051,990...55,103,415
Ensembl chr12:55,046,895...55,103,427
JBrowse link
G OGT O-linked N-acetylglucosamine (GlcNAc) transferase ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr  X:57,521,091...57,558,467
Ensembl chr  X:57,521,097...57,558,519
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 chr 1:27,257,872...27,346,529
Ensembl chr 1:27,257,008...27,346,515
JBrowse link
G PITX1 paired like homeodomain 1 ISO OMIM NCBI chr 2:137,200,424...137,212,500
Ensembl chr 2:137,198,870...137,206,979
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455
JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868 NCBI chr13:86,402,673...86,513,167
Ensembl chr13:86,401,244...86,513,105
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 chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:28492532, PMID:30311386 NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,194
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 chr 6:47,339,759...47,458,457 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 chr12:61,245,976...61,270,154 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 chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,582
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 chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,641...165,235,150
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:23861362, PMID:25741868, PMID:30311386 NCBI chr15:84,226,953...84,501,320 JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr 2:72,599,244...72,605,362
Ensembl chr 2:72,599,706...72,619,450
JBrowse link
G UNC13C unc-13 homolog C ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 1:117,163,115...117,765,125
Ensembl chr 1:117,166,283...117,764,668
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Talipes equinovarus ClinVar PMID:25741868 NCBI chr 4:104,994,341...105,048,853
Ensembl chr 4:104,998,532...105,048,853
JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703
JBrowse link
G WDR26 WD repeat domain 26 ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:30311386 NCBI chr10:12,713,528...12,756,713
Ensembl chr10:12,713,769...12,756,456
JBrowse link
G ZC4H2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr  X:51,157,102...51,193,993
Ensembl chr  X:51,155,819...51,231,519
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 chr  X:47,191,838...47,231,656
Ensembl chr  X:47,192,423...47,231,342
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 chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415
JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
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 chr10:20,137,246...20,332,539
Ensembl chr10:20,137,451...20,332,414
JBrowse link
G HOXD10 homeobox D10 ISO OMIM NCBI chr15:81,911,372...81,921,164
Ensembl chr15:81,917,613...81,920,884
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 chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,366...97,944,418
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 chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
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 chr 1:81,996,894...82,063,847 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 chr13:29,749,940...29,775,361
Ensembl chr13:29,753,308...29,775,371
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 chr 3:28,260,935...28,356,706 JBrowse link
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,401...37,255,811
JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr 1:120,880,460...120,946,045
Ensembl chr 1:120,807,328...120,946,052
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,629...10,227,947
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
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 chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
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 chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,426
JBrowse link
G ELN elastin ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:30311386 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,073...11,244,897
JBrowse link
G FOXP2 forkhead box P2 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:25741868, PMID:30311386 NCBI chr18:31,335,102...31,890,523
Ensembl chr18:31,336,931...31,888,899
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 chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,196...94,609,745
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 chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767
JBrowse link
G GORAB golgin, RAB6 interacting ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:30311386 NCBI chr 4:80,568,535...80,590,709
Ensembl chr 4:80,567,797...80,590,680
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 chr15:81,911,372...81,921,164
Ensembl chr15:81,917,613...81,920,884
JBrowse link
G KIF2A kinesin family member 2A ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr16:41,016,680...41,101,122
Ensembl chr16:41,016,674...41,102,545
JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr  X:98,586,718...98,623,939
Ensembl chr  X:98,582,059...98,623,908
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 chr 8:898,178...926,500
Ensembl chr 8:898,178...926,607
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 chr 1:92,447,156...92,472,488
Ensembl chr 1:92,447,164...92,483,236
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr 1:162,364,053...162,736,515
Ensembl chr 1:162,364,055...162,737,492
JBrowse link
G NEXMIF neurite extension and migration factor ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr  X:59,967,712...60,013,938
Ensembl chr  X:59,967,635...60,120,021
JBrowse link
G NLGN3 neuroligin 3 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr  X:57,174,506...57,204,770
Ensembl chr  X:57,176,103...57,201,486
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 chr 5:81,385,401...81,460,569
Ensembl chr 5:81,236,096...81,463,452
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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
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 chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,564
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 chr17:26,760,048...26,801,091
Ensembl chr17:26,760,046...26,801,155
JBrowse link
G SET SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr 1:269,050,447...269,064,462 JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655
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 chr13:70,538,802...70,602,464
Ensembl chr13:70,538,894...70,602,455
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 chr13:206,205,942...206,231,363 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 chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,458...120,712,462
JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:30311386 NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,810...107,508,927
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:30311386 NCBI chr 1:126,890,464...126,998,014
Ensembl chr 1:126,890,892...126,998,059
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:30311386 NCBI chr 6:414,930...439,206
Ensembl chr 6:414,930...439,212
JBrowse link
G TGM6 transglutaminase 6 ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:25741868, PMID:30311386 NCBI chr17:33,106,974...33,142,548
Ensembl chr17:33,108,569...33,155,069
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 chr 5:18,526,070...18,537,835
Ensembl chr 5:18,526,076...18,537,830
JBrowse link
G ATXN2 ataxin 2 ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:30311386 NCBI chr14:32,656,537...32,772,082
Ensembl chr14:32,656,558...32,771,813
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 chr  X:57,241,990...57,249,496
Ensembl chr  X:57,196,999...57,249,886
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 chr 2:4,169,510...4,194,699 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 chr13:95,018,395...95,122,977
Ensembl chr13:95,019,081...95,126,045
JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:30311386 NCBI chr MT:8,959...9,162
Ensembl chr MT:8,959...9,162
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 chr18:45,373,340...45,379,046
Ensembl chr18:45,373,440...45,380,300
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 chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO OMIM NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
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 chr18:1,795,462...1,934,951
Ensembl chr18:1,795,490...1,934,949
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 chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408
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 chr17:38,792,854...38,796,806
Ensembl chr17:38,792,323...38,797,446
JBrowse link
G NOG noggin ISO OMIM NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
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 chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,629...10,227,947
JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,858,931...15,078,855
JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,084,043...15,108,937
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO OMIM NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421
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 chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
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 chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
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 chr18:1,795,462...1,934,951
Ensembl chr18:1,795,490...1,934,949
JBrowse link
G SHH sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...2,555,484
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 chr18:1,795,462...1,934,951
Ensembl chr18:1,795,490...1,934,949
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 chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:18463159, PMID:20569257 RGD:12801447, RGD:12801448 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...2,555,484
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 chr12:2,285,679...2,311,750
Ensembl chr12:2,285,225...2,311,750
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 chr 9:76,639,915...76,643,689
Ensembl chr 9:76,639,561...76,643,884
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 chr 1:74,306,450...74,349,735
Ensembl chr 1:74,306,453...74,349,335
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 chr 5:3,839,498...3,927,178
Ensembl chr 5:3,839,501...3,927,183
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 chr 5:18,526,070...18,537,835
Ensembl chr 5:18,526,076...18,537,830
JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,874...62,110,058
JBrowse link
G ATXN1 ataxin 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 7:12,299,938...12,730,850
Ensembl chr 7:12,300,999...12,720,718
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 chr 4:72,572,455...72,754,443
Ensembl chr 4:72,571,874...72,754,432
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,790,073...59,875,245
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:57,241,990...57,249,496
Ensembl chr  X:57,196,999...57,249,886
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,370,184...142,401,209
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 chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,936...10,039,915
JBrowse link
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 8:334,604...351,970
Ensembl chr 8:334,599...351,970
JBrowse link
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G LOC100738003 25-hydroxycholesterol 7-alpha-hydroxylase-like ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:9802883, PMID:18252231, PMID:19812052, PMID:28492532, PMID:30311386 NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,035...69,806,496
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 chr13:95,018,395...95,122,977
Ensembl chr13:95,019,081...95,126,045
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 chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925
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 chr14:8,991,321...8,996,900
Ensembl chr14:8,990,750...8,997,300
JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,415
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 chr15:72,745,706...72,912,352
Ensembl chr15:72,748,692...72,912,407
JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 8:335,420...345,955
Ensembl chr 8:335,427...343,464
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 7:100,545,360...100,638,973
Ensembl chr 7:100,544,478...100,638,907
JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 4:95,542,329...95,572,946
Ensembl chr 4:95,542,472...95,572,938
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 chr15:84,226,953...84,501,320 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 chr 4:70,960,580...70,980,883
Ensembl chr 4:70,961,465...71,021,839
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 chr  X:41,773,232...41,803,656
Ensembl chr  X:41,773,232...41,803,662
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 chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
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 chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
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 chr 4:22,905,627...23,162,862
Ensembl chr 4:22,911,039...23,158,769
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 chr 9:3,099,525...3,134,825
Ensembl chr 9:3,113,451...3,134,821
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 8:99,141,967...99,312,131 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 chr 9:3,099,525...3,134,825
Ensembl chr 9:3,113,451...3,134,821
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 chr 8:99,141,967...99,312,131 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12641
    disease of anatomical entity 12177
      musculoskeletal system disease 5186
        Foot Deformities 131
          Congenital Foot Deformities + 119
          Foot Deformities, Acquired + 95
          Hallux Valgus + 7
          Hallux Varus + 0
          Hammer Toe Syndrome 6
          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.