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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 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012
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 7:25,378,705...25,406,975
Ensembl chr 7:25,378,705...25,406,947
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Foot deformity ClinVar PMID:20008656, PMID:30311386 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225
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 chr16:19,295,235...19,442,390
Ensembl chr16:19,296,149...19,442,369
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 chr36:19,901,184...19,903,837 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 chr27:19,781,557...19,795,078
Ensembl chr27:19,781,557...19,795,078
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 chr31:37,230,900...37,247,170 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 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923
JBrowse link
G TGM6 transglutaminase 6 ISO ClinVar Annotator: match by term: Bunion ClinVar PMID:25741868, PMID:30311386 NCBI chr24:18,698,016...18,721,975
Ensembl chr24:18,700,099...18,721,930
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 chr 9:44,584,022...44,587,177 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 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
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 1:112,117,338...112,124,464
Ensembl chr 1:112,117,141...112,124,077
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 5:76,288,780...76,343,262
Ensembl chr 5:76,288,782...76,343,207
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 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627
JBrowse link
G CHST14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20004762 NCBI chr30:7,640,988...7,643,576
Ensembl chr30:7,640,637...7,642,778
JBrowse link
G CLTC clathrin heavy chain ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr 9:34,116,344...34,183,023
Ensembl chr 9:34,116,634...34,182,719
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868, PMID:30311386 NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:missense mutation:exon:rs1048943 (1384A>G) (p.I462V) (human) RGD PMID:21254355 RGD:11576307 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
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 7:25,378,705...25,406,975
Ensembl chr 7:25,378,705...25,406,947
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 chr18:47,257,750...47,277,436
Ensembl chr18:47,261,730...47,274,236
JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
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 chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275
JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:19925654 RGD:12738235 NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132
JBrowse link
G HOXD12 homeobox D12 ISO DNA:SNP:5' utr:rs847154 (human) RGD PMID:16331564 RGD:12743594 NCBI chr36:19,907,424...19,910,827
Ensembl chr36:19,907,442...19,908,408
JBrowse link
G HOXD13 homeobox D13 ISO DNA:SNP:exon:rs13392701 (human) RGD PMID:16331564 RGD:12743594 NCBI chr36:19,901,184...19,903,837 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 chr 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191
JBrowse link
G KIAA1109 KIAA1109 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868, PMID:29290337, PMID:31680349 NCBI chr19:17,841,450...18,047,002
Ensembl chr19:17,841,967...18,044,276
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chr 9:56,542,844...56,625,609
Ensembl chr 9:56,542,826...56,625,530
JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr26:12,768,762...13,031,251
Ensembl chr26:12,770,588...13,030,512
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936070 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MYH13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr 5:34,617,987...34,669,349
Ensembl chr 5:34,617,971...34,669,589
JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr 5:34,696,377...34,725,515
Ensembl chr 5:34,696,371...34,723,574
JBrowse link
G OGT O-linked N-acetylglucosamine (GlcNAc) transferase ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr  X:55,821,227...55,857,597
Ensembl chr  X:55,821,234...55,855,502
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 1:29,337,362...29,423,608
Ensembl chr 1:29,337,386...29,418,126
JBrowse link
G PITX1 paired like homeodomain 1 ISO OMIM NCBI chr11:23,069,731...23,075,085
Ensembl chr11:23,069,716...23,080,941
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868 NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503
JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868 NCBI chr23:41,290,183...41,382,917
Ensembl chr23:41,290,567...41,382,807
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 chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
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 chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:28492532, PMID:30311386 NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284
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 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
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 chr 5:42,448,976...42,483,792
Ensembl chr 5:42,449,053...42,482,740
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 chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165
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 chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:23861362, PMID:25741868, PMID:30311386 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349
JBrowse link
G UNC13C unc-13 homolog C ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr30:19,519,177...20,096,633
Ensembl chr30:19,518,232...20,095,094
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Talipes equinovarus ClinVar PMID:25741868 NCBI chr17:53,174,080...53,227,616
Ensembl chr17:53,174,127...53,220,765
JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr 3:73,115,560...73,213,823
Ensembl chr 3:73,137,250...73,221,512
JBrowse link
G WDR26 WD repeat domain 26 ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:30311386 NCBI chr 7:39,968,183...40,003,221
Ensembl chr 7:39,967,576...39,997,853
JBrowse link
G ZC4H2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr  X:49,783,962...49,852,098
Ensembl chr  X:49,785,291...49,852,006
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:46,194,950...46,239,291
Ensembl chr  X:46,194,735...46,270,701
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 chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chr27:19,781,557...19,795,078
Ensembl chr27:19,781,557...19,795,078
JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
JBrowse link
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 chr 7:5,277,394...5,490,542
Ensembl chr 7:5,277,394...5,490,470
JBrowse link
G HOXD10 homeobox D10 ISO OMIM NCBI chr36:19,924,352...19,927,706
Ensembl chr36:19,916,175...19,927,724
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 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723
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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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 1:56,787,809...56,868,037
Ensembl chr 1:56,787,256...56,867,716
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 chr20:41,905,265...41,924,712
Ensembl chr20:41,905,273...41,925,794
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 6:27,800,060...27,849,170
Ensembl chr 6:27,798,835...27,848,689
JBrowse link
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr30:16,745,567...16,800,662
Ensembl chr30:16,745,620...16,797,704
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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 chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733
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 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728
JBrowse link
G ELN elastin ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:30311386 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
JBrowse link
G FOXP2 forkhead box P2 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:25741868, PMID:30311386 NCBI chr14:53,311,214...53,864,056
Ensembl chr14:53,312,045...53,862,655
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 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
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 chr11:52,688,295...52,731,160
Ensembl chr11:52,689,343...52,731,231
JBrowse link
G GORAB golgin, RAB6 interacting ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:30311386 NCBI chr 7:28,220,679...28,241,035
Ensembl chr 7:28,221,064...28,241,012
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 chr36:19,924,352...19,927,706
Ensembl chr36:19,916,175...19,927,724
JBrowse link
G KIF2A kinesin family member 2A ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr 2:48,642,961...48,715,605
Ensembl chr 2:48,645,380...48,714,025
JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr  X:92,405,946...92,444,527
Ensembl chr  X:92,407,950...92,444,765
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 3:62,268,027...62,304,767
Ensembl chr 3:62,267,708...62,302,136
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 chr12:35,533,766...35,563,058
Ensembl chr12:35,533,808...35,560,593
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072
JBrowse link
G NEXMIF neurite extension and migration factor ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr  X:57,986,884...58,120,453
Ensembl chr  X:57,992,476...58,013,478
JBrowse link
G NLGN3 neuroligin 3 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr  X:55,510,729...55,532,396
Ensembl chr  X:55,513,626...55,531,371
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 chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837
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 chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
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 chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482
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 chr24:4,663,043...4,700,949
Ensembl chr24:4,663,302...4,727,920
JBrowse link
G SET SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr 9:54,896,464...54,907,698 JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr19:46,419,812...46,541,888
Ensembl chr19:46,423,998...46,542,122
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 chr20:4,072,010...4,139,521
Ensembl chr20:4,073,929...4,139,436
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 chr31:37,230,900...37,247,170 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 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923
JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:30311386 NCBI chr17:25,393,169...25,447,686
Ensembl chr17:25,393,422...25,446,539
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:30311386 NCBI chr30:11,233,709...11,305,454
Ensembl chr30:11,233,718...11,305,485
JBrowse link
G TGM6 transglutaminase 6 ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:25741868, PMID:30311386 NCBI chr24:18,698,016...18,721,975
Ensembl chr24:18,700,099...18,721,930
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 chr27:1,889,078...1,900,097
Ensembl chr27:1,889,141...1,900,094
JBrowse link
G ATXN2 ataxin 2 ISO ClinVar Annotator: match by term: Hammer toe ClinVar PMID:30311386 NCBI chr26:9,073,667...9,188,429
Ensembl chr26:9,073,809...9,188,414
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:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659
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 chr18:49,063,748...49,090,625
Ensembl chr18:49,064,609...49,091,453
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 chr23:48,966,222...49,059,919
Ensembl chr23:48,971,066...49,059,919
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:7,803...8,006
Ensembl chr MT:7,803...8,006
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 chr14:40,371,234...40,375,261
Ensembl chr14:40,373,059...40,375,980
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 chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO OMIM NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
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 chr16:19,295,235...19,442,390
Ensembl chr16:19,296,149...19,442,369
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 chr25:16,630,321...16,665,935
Ensembl chr25:16,632,812...16,663,550
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 chr24:24,395,699...24,400,302
Ensembl chr24:24,395,263...24,399,928
JBrowse link
G NOG noggin ISO OMIM NCBI chr 9:31,453,604...31,456,060 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 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233
JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO OMIM NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622
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 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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 chr16:19,295,235...19,442,390
Ensembl chr16:19,296,149...19,442,369
JBrowse link
G SHH sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
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 chr16:19,295,235...19,442,390
Ensembl chr16:19,296,149...19,442,369
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 chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:18463159, PMID:20569257 RGD:12801447, RGD:12801448 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
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 chr 9:1,582,950...1,593,893
Ensembl chr 9:1,582,993...1,593,892
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 chr14:22,080,351...22,085,188
Ensembl chr14:22,080,699...22,084,867
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 chr12:65,252,175...65,294,620
Ensembl chr12:65,252,175...65,294,611
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 chr10:20,498,097...20,564,776
Ensembl chr10:20,498,567...20,627,836
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 chr27:1,889,078...1,900,097
Ensembl chr27:1,889,141...1,900,094
JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869
JBrowse link
G ATXN1 ataxin 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr35:15,458,498...15,863,829
Ensembl chr35:15,452,135...15,649,747
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 chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:9802883, PMID:18252231, PMID:19812052, PMID:28492532, PMID:30311386 NCBI chr29:14,443,036...14,613,839
Ensembl chr29:14,444,853...14,613,755
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
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:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
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 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576
JBrowse link
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 3:91,517,225...91,534,593
Ensembl chr 3:91,522,035...91,534,593
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G LOC490877 inverted formin, FH2 and WH2 domain containing ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 8:72,267,790...72,273,793 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 chr23:48,966,222...49,059,919
Ensembl chr23:48,971,066...49,059,919
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 chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451
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 chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210
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 chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255
JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 3:91,528,045...91,534,104
Ensembl chr 3:91,485,270...91,534,115
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 8:50,291,797...50,401,202
Ensembl chr 8:50,271,010...50,401,313
JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 7:43,039,360...43,067,297
Ensembl chr 7:43,039,382...43,067,296
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 chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
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 chr29:13,177,690...13,198,910
Ensembl chr29:13,182,308...13,192,553
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:40,746,959...40,776,764
Ensembl chr  X:40,747,178...40,776,742
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 chr 9:31,453,604...31,456,060 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:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203
JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPS1 transcriptional repressor GATA binding 1 ISO OMIM NCBI chr13:15,017,180...15,273,177
Ensembl chr13:15,022,652...15,273,666
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 chr21:29,927,713...29,955,742
Ensembl chr21:29,928,176...29,948,713
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 chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045
JBrowse link
Van Maldergem syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCHS1 dachsous cadherin-related 1 ISO OMIM NCBI chr21:29,927,713...29,955,742
Ensembl chr21:29,928,176...29,948,713
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 chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12699
    disease of anatomical entity 12239
      musculoskeletal system disease 5202
        Foot Deformities 130
          Congenital Foot Deformities + 119
          Foot Deformities, Acquired + 95
          Hallux Valgus + 6
          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.