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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 IAGP ClinVar Annotator: match by term: Foot deformity ClinVar PMID:30311386 NCBI chr 1:102,876,473...103,108,580
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP 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 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808
JBrowse link
G MFN2 mitofusin 2 IAGP ClinVar Annotator: match by term: Foot deformity ClinVar PMID:20008656, PMID:30311386 NCBI chr 1:11,980,215...12,013,508
Ensembl chr 1:11,980,181...12,015,211
Ensembl chr 1:11,980,181...12,015,211
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 IAGP ClinVar Annotator: match by term: Acheiropodia ClinVar
OMIM
PMID:11090342 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 IAGP
EXP
ClinVar Annotator: match by term: Brachydactyly type E1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:12620993, PMID:12649808, PMID:16314414, PMID:24239177, PMID:25741868 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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 IAGP ClinVar Annotator: match by term: Brachydactyly type E2 ClinVar
OMIM
PMID:20170896 NCBI chr12:27,958,084...27,972,864
Ensembl chr12:27,958,084...27,972,733
JBrowse link
Bunion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase IAGP 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 chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP 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 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G TGM6 transglutaminase 6 IAGP ClinVar Annotator: match by term: Bunion ClinVar PMID:25741868, PMID:30311386 NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753
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 IAGP OMIM NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
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 IAGP DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
ClinVar
OMIM
PMID:2842249, PMID:8496742, PMID:8733056, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:20576601, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24523486, PMID:24631656, PMID:24739246, PMID:24793181, PMID:24842602, PMID:24996492, PMID:25056583, PMID:25326637, PMID:25359261, PMID:25447930, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26453127, PMID:26633545, PMID:26993267, PMID:27091223, PMID:27268479, PMID:27634470, PMID:27726050, PMID:28293679, PMID:28441826, PMID:28492532, PMID:28500446, PMID:28708303, PMID:28849312, PMID:29066118, PMID:29184165, PMID:29305691, PMID:29397530, PMID:30071271, PMID:30311386, PMID:30657467, PMID:32581362, PMID:24468074 RGD:11576280 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERF ETS2 repressor factor IAGP ClinVar Annotator: match by term: Chitayat syndrome ClinVar
OMIM
PMID:8418638, PMID:27738187 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
JBrowse link
clubfoot term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868 NCBI chr16:70,252,295...70,289,509
Ensembl chr16:70,251,983...70,289,707
Ensembl chr16:70,251,983...70,289,707
Ensembl chr16:70,251,983...70,289,707
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:19466712, PMID:19777577, PMID:25741868, PMID:26092869, PMID:28492532, PMID:30311386 NCBI chr 4:15,468,660...15,601,557
Ensembl chr 4:15,469,865...15,601,552
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CHST14 carbohydrate sulfotransferase 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20004762 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,998...40,474,571
Ensembl chr15:40,470,998...40,474,571
JBrowse link
G CLTC clathrin heavy chain IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,689...59,696,956
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868, PMID:30311386 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:134,641,789...134,844,843
Ensembl chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP DNA:missense mutation:exon:rs1048943 (1384A>G) (p.I462V) (human) RGD PMID:21254355 RGD:11576307 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP 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 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP 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 chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:31,119,219...33,339,460
Ensembl chr  X:31,097,677...33,339,441
JBrowse link
G FKBP8 FKBP prolyl isomerase 8 ISS OMIM:119800 MouseDO NCBI chr19:18,531,763...18,543,573
Ensembl chr19:18,531,751...18,544,077
JBrowse link
G FLNB filamin B IAGP 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 chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,400...58,172,251
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISS OMIM:119800 MouseDO NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:19925654 RGD:12738235 NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,237,870
JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISS OMIM:119800 MouseDO NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
JBrowse link
G HOXD12 homeobox D12 IAGP DNA:SNP:5' utr:rs847154 (human) RGD PMID:16331564 RGD:12743594 NCBI chr 2:176,099,795...176,102,489
Ensembl chr 2:176,099,795...176,102,489
Ensembl chr 2:176,099,795...176,102,489
JBrowse link
G HOXD13 homeobox D13 IAGP DNA:SNP:exon:rs13392701 (human) RGD PMID:16331564 RGD:12743594 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:15786477, PMID:19668216, PMID:25741868, PMID:28492532, PMID:29186038 NCBI chr 9:136,428,619...136,439,861
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G KIAA1109 KIAA1109 IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868, PMID:29290337, PMID:31680349 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,333...122,362,758
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr12:49,018,975...49,060,884
Ensembl chr12:49,018,978...49,060,794
Ensembl chr12:49,018,978...49,060,794
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,614,443...126,701,032
Ensembl chr 9:126,614,443...126,701,032
JBrowse link
G MED13L mediator complex subunit 13L IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693
Ensembl chr12:115,957,905...116,277,693
JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16936070 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MYH13 myosin heavy chain 13 IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr17:10,300,865...10,373,006
Ensembl chr17:10,300,865...10,373,130
JBrowse link
G MYH8 myosin heavy chain 8 IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950
JBrowse link
G MYHAS myosin heavy chain gene cluster antisense RNA IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr17:10,383,132...10,625,540
Ensembl chr17:10,383,144...10,623,886
JBrowse link
G OGT O-linked N-acetylglucosamine (GlcNAc) transferase IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr  X:71,533,104...71,575,892
Ensembl chr  X:71,533,104...71,575,892
JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP 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 6:136,821,683...136,913,934
Ensembl chr 6:136,822,564...136,913,934
JBrowse link
G PITX1 paired like homeodomain 1 IAGP ClinVar Annotator: match by term: Talipes equinovarus ClinVar
OMIM
PMID:18950742, PMID:22258522 NCBI chr 5:135,027,734...135,034,228
Ensembl chr 5:135,027,734...135,034,813
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP ClinVar Annotator: match by term: Equinovarus ClinVar PMID:25741868 NCBI chr 3:146,069,437...146,161,184
Ensembl chr 3:146,069,440...146,163,653
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP 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 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP 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 chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,913
Ensembl chr12:112,418,351...112,509,913
JBrowse link
G RET ret proto-oncogene ISS OMIM:119800 MouseDO NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:28492532, PMID:30311386 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:18253, PMID:7299413, PMID:16380615, PMID:17033962, PMID:17365175, PMID:17483490, PMID:30311386 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISS OMIM:119800 MouseDO NCBI chr11:68,039,000...68,053,846
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP 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 chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP 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 chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G TSPAN1 tetraspanin 1 IAGP 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 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:23861362, PMID:25741868, PMID:30311386 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:23861362, PMID:25741868, PMID:30311386 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
JBrowse link
G UNC13C unc-13 homolog C IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr15:53,837,573...54,633,440
Ensembl chr15:53,978,201...54,633,414
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Talipes equinovarus ClinVar PMID:25741868 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
JBrowse link
G WDR19 WD repeat domain 19 IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr 4:39,182,473...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WDR26 WD repeat domain 26 IAGP ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:30311386 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,143...224,437,033
JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:30311386 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11940089 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP associated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiple RGD PMID:25394172 RGD:11098154 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G LMNA lamin A/C EXP CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G PTHLH parathyroid hormone like hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chr12:27,958,084...27,972,864
Ensembl chr12:27,958,084...27,972,733
JBrowse link
G TP63 tumor protein p63 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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 IAGP 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 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455
JBrowse link
G HOXD10 homeobox D10 IAGP ClinVar Annotator: match by term: Vertical talus, congenital ClinVar
OMIM
PMID:15146389, PMID:16450407 NCBI chr 2:176,116,778...176,119,937
Ensembl chr 2:176,108,790...176,119,942
Ensembl chr 2:176,108,790...176,119,942
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 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot
ClinVar
OMIM
PMID:8423615, PMID:11152147, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:30285720, PMID:31680123 NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
Ensembl chr18:10,666,483...11,149,569
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 LOC111162620 TAp63 promoter of tumor protein p63 IAGP ClinVar Annotator: match by term: EEC SYNDROME 3 ClinVar NCBI chr 3:189,630,704...189,631,513 JBrowse link
G LOC111162621 DeltaNp63 promoter of tumor protein p63 IAGP ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 ClinVar NCBI chr 3:189,786,613...189,789,801 JBrowse link
G TP63 tumor protein p63 IAGP
EXP
DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by term: EEC SYNDROME 3
ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A)
ClinVar
CTD
OMIM
PMID:8737655, PMID:9028452, PMID:9443880, PMID:10535733, PMID:10839977, PMID:10936828, PMID:11462173, PMID:12161593, PMID:12525544, PMID:12838557, PMID:12939657, PMID:16691622, PMID:17041931, PMID:17431922, PMID:18326838, PMID:18626511, PMID:18792980, PMID:19353588, PMID:19663851, PMID:19903181, PMID:20180707, PMID:20543567, PMID:21078104, PMID:21204238, PMID:21652629, PMID:23355676, PMID:23431748, PMID:23463580, PMID:23775923, PMID:24734328, PMID:25741868, PMID:25983622, PMID:26380986, PMID:26882220, PMID:27028492, PMID:27798044, PMID:28293528, PMID:28492532, PMID:29620206, PMID:10535733, PMID:26470833, PMID:12161593, PMID:11903230 RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 ClinVar
OMIM
PMID:23704329, PMID:25703627, PMID:28492532 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
Ensembl chr 6:116,254,173...116,444,861
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 IAGP DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)
ClinVar Annotator: match by term: Eiken skeletal dysplasia
ClinVar Annotator: match by term: Eiken syndrome
ClinVar
OMIM
PMID:15525660, PMID:25741868, PMID:29987841, PMID:15525660 RGD:12910707 NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
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 IAGP ClinVar Annotator: match by term: Pes planus ClinVar PMID:16086317, PMID:30311386 NCBI chr16:16,149,565...16,223,617
Ensembl chr16:16,148,928...16,223,522
JBrowse link
G ANO5 anoctamin 5 IAGP ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr11:22,192,485...22,283,357
Ensembl chr11:21,799,934...22,283,357
JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr15:50,908,569...51,005,900
Ensembl chr15:50,908,672...51,005,895
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP 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 chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Pes planus ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:134,641,789...134,844,843
Ensembl chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G ELN elastin IAGP ClinVar Annotator: match by term: Pes planus ClinVar PMID:30311386 NCBI chr 7:74,027,772...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G FOXP2 forkhead box P2 IAGP ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:25741868, PMID:30311386 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
JBrowse link
G GBA glucosylceramidase beta IAGP 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 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr 9:36,214,441...36,277,056
Ensembl chr 9:36,214,441...36,277,056
JBrowse link
G GORAB golgin, RAB6 interacting IAGP ClinVar Annotator: match by term: Pes planus ClinVar PMID:30311386 NCBI chr 1:170,532,134...170,553,834
Ensembl chr 1:170,532,131...170,553,834
Ensembl chr 1:170,532,131...170,553,834
JBrowse link
G GORAB-AS1 GORAB antisense RNA 1 IAGP ClinVar Annotator: match by term: Pes planus ClinVar PMID:30311386 NCBI chr 1:170,461,317...170,532,609
Ensembl chr 1:170,460,453...170,532,647
JBrowse link
G HOXD10 homeobox D10 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Talipes calcaneovalgus
CTD
ClinVar
PMID:15146389, PMID:16450407, PMID:24239177, PMID:30311386 NCBI chr 2:176,116,778...176,119,937
Ensembl chr 2:176,108,790...176,119,942
Ensembl chr 2:176,108,790...176,119,942
JBrowse link
G KIF2A kinesin family member 2A IAGP ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr 5:62,306,167...62,391,025
Ensembl chr 5:62,306,162...62,391,025
Ensembl chr 5:62,306,162...62,391,025
JBrowse link
G LAMP2 lysosomal associated membrane protein 2 IAGP ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr  X:120,426,148...120,469,349
Ensembl chr  X:120,426,148...120,469,365
Ensembl chr  X:120,426,148...120,469,365
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G LOC106627981 GBA recombination region IAGP 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 1:155,233,639...155,240,092 JBrowse link
G MTO1 mitochondrial tRNA translation optimization 1 IAGP ClinVar Annotator: match by term: Flat foot ClinVar PMID:23929671, PMID:25741868, PMID:28492532, PMID:29331171, PMID:29440775, PMID:30311386 NCBI chr 6:73,461,737...73,509,236
Ensembl chr 6:73,461,578...73,509,236
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
JBrowse link
G NEXMIF neurite extension and migration factor IAGP ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr  X:74,732,856...74,925,452
Ensembl chr  X:74,732,856...74,925,472
Ensembl chr  X:74,732,856...74,925,472
JBrowse link
G NLGN3 neuroligin 3 IAGP ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr  X:71,144,389...71,175,307
Ensembl chr  X:71,144,831...71,171,201
JBrowse link
G PAH phenylalanine hydroxylase IAGP 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 chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,913
Ensembl chr12:112,418,351...112,509,913
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:28492532, PMID:30311386 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP ClinVar Annotator: match by term: Flat foot ClinVar PMID:19561605, PMID:19621418, PMID:25044164, PMID:28492532, PMID:30311386 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415
JBrowse link
G SET SET nuclear proto-oncogene IAGP ClinVar Annotator: match by term: Flat foot ClinVar PMID:30311386 NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400
JBrowse link
G TUBB2A tubulin beta 2A class IIa IAGP ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:3,153,666...3,157,544
Ensembl chr 6:3,153,666...3,157,544
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP ClinVar Annotator: match by term: Calcaneovalgus deformity ClinVar PMID:30311386 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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 IAGP ClinVar Annotator: match by term: Fuhrmann syndrome ClinVar
OMIM
PMID:9128926, PMID:16826533 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Hallux Valgus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase IAGP 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 chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP 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 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G SPAST spastin IAGP ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:30311386 NCBI chr 2:32,063,551...32,157,637
Ensembl chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:30311386 NCBI chr15:44,562,696...44,663,678
Ensembl chr15:44,562,696...44,663,678
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:30311386 NCBI chr16:89,508,379...89,557,768
Ensembl chr16:89,490,719...89,557,766
JBrowse link
G TGM6 transglutaminase 6 IAGP ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:25741868, PMID:30311386 NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753
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 IAGP 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 chr12:53,307,456...53,321,610
Ensembl chr12:53,307,456...53,324,864
JBrowse link
G ATXN2 ataxin 2 IAGP ClinVar Annotator: match by term: Hammer toe ClinVar PMID:30311386 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
JBrowse link
G GJB1 gap junction protein beta 1 IAGP 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:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516
Ensembl chr  X:71,212,811...71,225,516
JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 IAGP ClinVar Annotator: match by term: Hammer toe ClinVar PMID:14506069, PMID:25741868, PMID:28492532 NCBI chr11:68,903,855...68,940,601
Ensembl chr11:68,903,863...68,940,602
Ensembl chr11:68,903,863...68,940,602
Ensembl chr11:68,903,863...68,940,602
JBrowse link
G MME membrane metalloendopeptidase IAGP ClinVar Annotator: match by term: Hammer toe ClinVar PMID:15464186, PMID:25565308, PMID:27588448, PMID:28492532, PMID:30311386 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
Ensembl chr 3:155,024,124...155,183,704
JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP ClinVar Annotator: match by term: Hammer toe ClinVar PMID:30311386 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572
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 IAGP
EXP
hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter
ClinVar Annotator: match by term: Hand foot uterus syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1442892, PMID:2774004, PMID:5450271, PMID:8673126, PMID:9020844, PMID:10839976, PMID:12073020, PMID:12414828, PMID:17935235, PMID:24239177, PMID:9020844 RGD:1599526 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
JBrowse link
G LOC107126288 NUP98-HOXA13 recombination region IAGP ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar PMID:10839976, PMID:17935235 NCBI chr 7:27,198,443...27,202,743 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 IAGP ClinVar Annotator: match by term: Jackson-Weiss syndrome OMIM
ClinVar
PMID:7795583, PMID:7874169, PMID:10861678, PMID:10942429, PMID:14564217, PMID:14613973, PMID:16957473, PMID:24127277, PMID:24497711, PMID:25251565, PMID:28492532 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP DNA:missense mutation:cds:p.R344G (human)
ClinVar Annotator: match by term: Jackson-Weiss syndrome
ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities
ClinVar
OMIM
PMID:7558045, PMID:7581378, PMID:7655462, PMID:7719329, PMID:7719344, PMID:7719345, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8528214, PMID:8644708, PMID:8651276, PMID:8957519, PMID:9385368, PMID:9462761, PMID:9586546, PMID:9677057, PMID:9719378, PMID:10541159, PMID:10633130, PMID:10851026, PMID:11121055, PMID:11390973, PMID:12124745, PMID:12884424, PMID:12884434, PMID:14499350, PMID:15975938, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16838304, PMID:17525745, PMID:18552176, PMID:19066959, PMID:20301628, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23495007, PMID:23546041, PMID:24127277, PMID:24489893, PMID:25157968, PMID:25271085, PMID:25741868, PMID:25759925, PMID:25867380, PMID:26362256, PMID:26380986, PMID:26619011, PMID:27481450, PMID:28492532, PMID:31145570, PMID:7874170 RGD:12801470 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,334...121,598,458
Ensembl chr10:121,478,334...121,598,458
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 IAGP ClinVar Annotator: match by term: Laurin-Sandrow syndrome ClinVar
OMIM
PMID:16059937, PMID:24456159 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G ZRS ZPA regulatory sequence IAGP ClinVar Annotator: match by term: Laurin-Sandrow syndrome ClinVar PMID:16059937, PMID:24456159 NCBI chr 7:156,790,708...156,793,079 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 IAGP ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr13:21,671,073...21,704,501
Ensembl chr13:21,671,073...21,704,498
JBrowse link
G GDF5 growth differentiation factor 5 IAGP DNA:missense mutation:cds:p.R438L(1313G>T)(human)
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
ClinVar PMID:16532400 RGD:12738199 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G LOC109461476 GDF5 promoter region IAGP ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr20:35,437,929...35,438,683 JBrowse link
G NOG noggin IAGP ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human)
ClinVar
OMIM
PMID:3667255, PMID:6638061, PMID:10080184, PMID:11846737, PMID:15770128, PMID:16532400, PMID:17609215, PMID:20503332, PMID:25741868, PMID:10080184, PMID:16151340 RGD:1600234, RGD:12801467 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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 IAGP ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629
JBrowse link
G RS1 retinoschisin 1 IAGP ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP
EXP
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:18414213, PMID:19606471, PMID:22366787, PMID:22426308, PMID:22822383, PMID:23752187, PMID:25169058, PMID:25326635, PMID:25326637, PMID:25741868, PMID:27099726, PMID:27665729, PMID:28492532, PMID:28824374, PMID:30311386, PMID:30459321 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
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
IAGP
EXP
DNA:missense mutation:cds:p.G60S (mouse)
ClinVar Annotator: match by term: Oculodentodigital dysplasia
CTD Direct Evidence: marker/mechanism
DNA:mutation:cd:p.G138R(mouse)
DNA:missense mutation:cds:p.P59H (human)
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
ClinVar
CTD
OMIM
PMID:220941, PMID:1057461, PMID:2309863, PMID:4209752, PMID:7815444, PMID:10331943, PMID:11470490, PMID:12457340, PMID:15108203, PMID:15192806, PMID:15551259, PMID:15637728, PMID:15879313, PMID:16155213, PMID:16211004, PMID:16378922, PMID:16709485, PMID:17256797, PMID:17420259, PMID:17509830, PMID:17687502, PMID:18003637, PMID:18077386, PMID:18079109, PMID:18660473, PMID:18946008, PMID:19057520, PMID:19638688, PMID:19725242, PMID:21215473, PMID:21670345, PMID:22090377, PMID:22179534, PMID:23103513, PMID:23304551, PMID:23465283, PMID:23550541, PMID:25741868, PMID:28492532, PMID:16155213, PMID:18003637, PMID:16219735, PMID:15637728, PMID:12457340 RGD:8662372, RGD:12910132, RGD:1578474, RGD:8662400, RGD:8662375 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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 IAGP ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar
OMIM
PMID:2309863, PMID:11470490, PMID:12457340, PMID:14974090, PMID:14981729, PMID:15192806, PMID:15879313, PMID:16531323, PMID:16816024, PMID:17901047, PMID:18003637, PMID:18946008, PMID:19057520, PMID:19338053, PMID:21215473, PMID:21670345, PMID:22090377, PMID:22179534, PMID:23103513, PMID:23304551, PMID:23465283, PMID:23606748, PMID:25388818, PMID:25398053, PMID:25741868, PMID:27226478, PMID:28492532 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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 IAGP ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar PMID:17300748, PMID:18178630, PMID:18417549 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G LOC113687207 Sharpr-MPRA regulatory region 13578 IAGP ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar PMID:17300748, PMID:18417549 NCBI chr 7:156,759,915...156,760,209 JBrowse link
G LOC114255744 ZRS shadow enhancer IAGP ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar PMID:17300748, PMID:18417549 NCBI chr 7:156,765,178...156,768,157 JBrowse link
G SHH sonic hedgehog signaling molecule IAGP DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G ZRS ZPA regulatory sequence IAGP ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar PMID:17300748, PMID:18417549 NCBI chr 7:156,790,708...156,793,079 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 IAGP ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome
ClinVar Annotator: match by term: Polydactyly, preaxial II
ClinVar Annotator: match by term: TPT-PS SYNDROME
ClinVar
OMIM
PMID:8012392, PMID:10937618, PMID:12837695, PMID:17152067, PMID:17300748, PMID:18178630, PMID:18417549, PMID:18463159, PMID:19519794, PMID:20569257, PMID:24777739, PMID:28492532 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G LOC113687207 Sharpr-MPRA regulatory region 13578 IAGP ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar PMID:17300748, PMID:18417549 NCBI chr 7:156,759,915...156,760,209 JBrowse link
G LOC114255744 ZRS shadow enhancer IAGP ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar PMID:17300748, PMID:18417549 NCBI chr 7:156,765,178...156,768,157 JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:12204003, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP RGD PMID:20569257, PMID:18463159 RGD:12801447, RGD:12801448 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G ZRS ZPA regulatory sequence IAGP ClinVar Annotator: match by term: Polydactyly, preaxial II
ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome
ClinVar PMID:8012392, PMID:10937618, PMID:12837695, PMID:17152067, PMID:17300748, PMID:18417549, PMID:18463159, PMID:19519794, PMID:20569257, PMID:24777739 NCBI chr 7:156,790,708...156,793,079 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 IAGP ClinVar Annotator: match by term: Richieri Costa Pereira syndrome ClinVar
OMIM
PMID:24360810 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
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 IAGP ClinVar Annotator: match by term: DEAFNESS, CONGENITAL, WITH SPLIT HANDS AND FEET ClinVar
OMIM
PMID:22121204 NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950
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 IAGP OMIM NCBI chr 6:108,211,222...108,261,040
Ensembl chr 6:108,211,222...108,261,246
JBrowse link
Synpolydactyly 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN1 fibulin 1 IAGP OMIM NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135
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 IAGP 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 chr12:53,307,456...53,321,610
Ensembl chr12:53,307,456...53,324,864
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,656...78,050,395
JBrowse link
G ATXN1 ataxin 1 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 6:16,299,112...16,761,490
Ensembl chr 6:16,299,112...16,761,491
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:22539353, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:9802883, PMID:18252231, PMID:19812052, PMID:28492532, PMID:30311386 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr10:12,068,954...12,123,221
Ensembl chr10:12,068,954...12,123,221
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G GJB1 gap junction protein beta 1 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516
Ensembl chr  X:71,212,811...71,225,516
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G HSPB1 heat shock protein family B (small) member 1 IAGP 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 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295
JBrowse link
G IDUA alpha-L-iduronidase IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 4:986,997...1,004,564
Ensembl chr 4:986,997...1,004,564
JBrowse link
G INF2 inverted formin 2 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535
Ensembl chr14:104,681,146...104,722,535
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G LOC108663993 ataxin 1 repeat instability region IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 6:16,327,634...16,327,724 JBrowse link
G MME membrane metalloendopeptidase IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:15464186, PMID:24033266, PMID:25565308, PMID:27588448, PMID:28492532, PMID:30311386 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
Ensembl chr 3:155,024,124...155,183,704
JBrowse link
G MPZ myelin protein zero IAGP 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 1:161,303,594...161,309,969
Ensembl chr 1:161,304,735...161,309,968
Ensembl chr 1:161,304,735...161,309,968
JBrowse link
G NEFL neurofilament light IAGP 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 chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,957,110
Ensembl chr 8:24,950,955...24,957,110
JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G SLC26A1 solute carrier family 26 member 1 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 4:979,035...993,404
Ensembl chr 4:979,073...993,440
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr14:77,505,997...77,616,663
Ensembl chr14:77,505,997...77,616,637
Ensembl chr14:77,505,997...77,616,637
JBrowse link
G TPM3 tropomyosin 3 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:30311386 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,304...154,194,648
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532, PMID:30311386 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G TTPA alpha tocopherol transfer protein IAGP 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 8:63,059,488...63,086,523
Ensembl chr 8:63,048,553...63,086,053
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 IAGP ClinVar Annotator: match by term: TARP syndrome ClinVar
OMIM
PMID:5410571, PMID:20451169, PMID:21910224, PMID:24259342, PMID:25741868 NCBI chr  X:47,145,196...47,186,813
Ensembl chr  X:47,145,221...47,186,813
JBrowse link
tarsal-carpal coalition syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOG noggin IAGP DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
ClinVar Annotator: match by term: Tarsal carpal coalition syndrome
ClinVar
OMIM
PMID:4019538, PMID:7557985, PMID:10080184, PMID:11545688, PMID:17245852, PMID:25741868, PMID:26211601 RGD:12801450 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
terminal osseous dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP ClinVar Annotator: match by term: Terminal osseous dysplasia
ClinVar Annotator: match by term: TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS
OMIM
ClinVar
PMID:9800904, PMID:10982965, PMID:15864382, PMID:17152064, PMID:20598277, PMID:25614868, PMID:25741868, PMID:26059211, PMID:28492532, PMID:30561107 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638
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 IAGP ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type 3
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
ClinVar
OMIM
PMID:11112658, PMID:11807863, PMID:11950061, PMID:14560312, PMID:18946009, PMID:19694891, PMID:21850686, PMID:22964620, PMID:23451857, PMID:24502542, PMID:25741868, PMID:25792522, PMID:26113321, PMID:27826100, PMID:28050602, PMID:28170084, PMID:28468609, PMID:28492532, PMID:30541476 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809
JBrowse link
G FAT4 FAT atypical cadherin 4 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Van Maldergem syndrome
CTD
ClinVar
PMID:24033266, PMID:24056717 NCBI chr 4:125,314,918...125,492,932
Ensembl chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,955...125,492,932
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 IAGP ClinVar Annotator: match by term: Van Maldergem syndrome 1 OMIM
ClinVar
PMID:22473091, PMID:24056717, PMID:25741868, PMID:28492532 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809
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 IAGP ClinVar Annotator: match by term: Van Maldergem syndrome 2 ClinVar
OMIM
PMID:2624276, PMID:22469822, PMID:22473091, PMID:24033266, PMID:24056717, PMID:24913602, PMID:25741868 NCBI chr 4:125,314,918...125,492,932
Ensembl chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,955...125,492,932
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17349
      musculoskeletal system disease 6168
        Foot Deformities 149
          Congenital Foot Deformities + 137
          Foot Deformities, Acquired + 106
          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.