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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


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acheiropody 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: Acheiropodia OMIM
ClinVar		 PMID:11090342 PMID:33863876 NCBI chr 7:148,301,263...148,512,407
Ensembl chr 7:159,999,389...160,152,858 		JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDAC4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Brachydactyly syndrome type E ClinVar PMID:11486037 PMID:25741868 PMID:33537682 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054 		JBrowse link
G HOXD13 homeobox D13 ISO ClinVar Annotator: match by term: Brachydactyly type E1 OMIM
ClinVar		 PMID:12414828 PMID:12620993 PMID:12649808 PMID:16314414 PMID:22233338 More... NCBI chr2B:63,372,517...63,375,731 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 ClinVar Annotator: match by term: Brachydactyly type E2 OMIM
ClinVar		 PMID:20170896 PMID:25741868 PMID:25801215 PMID:26763883 PMID:29947179 More... NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750 		JBrowse link
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGB1 high mobility group box 1 ISO ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia ClinVar PMID:20661588 NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527 		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 ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss OMIM
ClinVar		 PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More... NCBI chr19:38,854,243...38,882,034
Ensembl chr19:47,358,281...47,384,716 		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 ClinVar Annotator: match by term: Chitayat syndrome OMIM
ClinVar		 PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 More... NCBI chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808 		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: Clubfoot ClinVar PMID:25741868 NCBI chr16:54,727,601...54,763,458
Ensembl chr16:70,086,735...70,121,902 		JBrowse link
G ATP2B1 ATPase plasma membrane Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr12:87,107,900...87,229,514
Ensembl chr12:90,427,560...90,495,320 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 PMID:29290337 PMID:31680349 NCBI chr 4:114,346,807...114,558,993
Ensembl chr 4:125,482,532...125,694,099 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 More... NCBI chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20004762 NCBI chr15:19,407,477...19,409,645
Ensembl chr15:37,660,621...37,661,622 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651 		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 chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital Talipes Equinovarus ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr 1:149,342,301...149,375,979
Ensembl chr 1:153,045,886...153,080,461 		JBrowse link
G FKBP8 FKBP prolyl isomerase 8 ISO OMIM:119800 MouseDO NCBI chr19:18,009,505...18,021,772
Ensembl chr19:18,980,269...18,992,170 		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 chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO OMIM:119800 MouseDO NCBI chr 4:45,650,346...46,138,222
Ensembl chr 4:51,500,396...51,981,476 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:19925654 RGD:12738235 NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO OMIM:119800 MouseDO NCBI chr12:21,841,611...22,562,418
Ensembl chr12:22,744,177...23,069,480 		JBrowse link
G HOXD12 homeobox D12 ISO DNA:SNP:5' utr:rs847154 (human) RGD PMID:16331564 RGD:12743594 NCBI chr2B:63,379,611...63,382,293
Ensembl chr2B:181,089,181...181,091,055 		JBrowse link
G HOXD13 homeobox D13 ISO DNA:SNP:exon:rs13392701 (human) RGD PMID:16331564 RGD:12743594 NCBI chr2B:63,372,517...63,375,731 JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chr 9:97,730,850...97,820,554
Ensembl chr 9:126,240,722...126,322,420 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936070 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY ClinVar PMID:25741868 NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425 		JBrowse link
G PITX1 paired like homeodomain 1 ISO ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY | ClinVar Annotator: match by term: Clubfoot | ClinVar Annotator: match by term: PITX1-related condition OMIM
ClinVar		 PMID:18950742 PMID:22258522 PMID:25741868 PMID:28492532 NCBI chr 5:130,422,920...130,429,828
Ensembl chr 5:136,565,285...136,570,350 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr16:604,366...605,560 JBrowse link
G RET ret proto-oncogene ISO OMIM:119800 MouseDO NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital Talipes Equinovarus ClinVar PMID:18253 PMID:7299413 PMID:16380615 PMID:17033962 PMID:17365175 More... NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO OMIM:119800 MouseDO NCBI chr11:63,120,913...63,132,831
Ensembl chr11:66,429,435...66,441,327 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Congenital Talipes Equinovarus ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:2128891 PMID:20037587 PMID:20037588 PMID:21288981 PMID:21454511 More... NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:23861362 PMID:25741868 NCBI chr2B:65,783,512...66,064,618 JBrowse link
G UNC13C unc-13 homolog C ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr15:32,914,784...33,563,610 JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr 1:86,865,983...86,922,175
Ensembl chr 1:121,921,934...121,970,552 		JBrowse link
G WAPL WAPL cohesin release factor ISO ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr10:82,862,852...82,953,284
Ensembl chr10:86,422,170...86,512,207 		JBrowse link
Complex Camptosynpolydactyly 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 ClinVar Annotator: match by term: Camptosynpolydactyly, complex OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr17:1,254,307...1,255,919 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:46,648,765...46,699,444
Ensembl chr  X:54,880,513...54,930,672 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO associated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiple RGD PMID:25394172 RGD:11098154 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15996213 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539 		JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750 		JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
congenital vertical talus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD10 homeobox D10 ISO ClinVar Annotator: match by term: Congenital vertical talus | ClinVar Annotator: match by term: Rocker-bottom foot deformity OMIM
ClinVar		 PMID:15146389 PMID:16450407 PMID:25741868 NCBI chr2B:63,395,636...63,399,704
Ensembl chr2B:181,104,876...181,110,963 		JBrowse link
distal arthrogryposis type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103782669 myosin-8 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 NCBI chr17:41,231,081...41,262,671
Ensembl chr17:45,978,472...46,010,038 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:30777867 NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:11738357 PMID:17339586 PMID:17846275 PMID:18414213 PMID:18420702 More... NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394 		JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD18B ankyrin repeat domain 18B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,305,062...33,383,152 JBrowse link
G APTX aprataxin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060 		JBrowse link
G AQP3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,221,989...33,228,469
Ensembl chr 9:34,032,983...34,039,438 		JBrowse link
G AQP7 aquaporin 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,160,982...33,180,638 JBrowse link
G ARHGEF39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,510,876...35,517,299
Ensembl chr 9:36,313,296...36,319,732 		JBrowse link
G ARID3C AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,457,638...34,466,425
Ensembl chr 9:35,267,063...35,275,057 		JBrowse link
G ATOSB atos homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,954,618...34,966,860
Ensembl chr 9:35,760,019...35,771,911 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,889,124...32,945,759
Ensembl chr 9:33,691,733...33,754,192 		JBrowse link
G BAG1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,033,267...33,043,013
Ensembl chr 9:33,841,449...33,851,167 		JBrowse link
G CA9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340 		JBrowse link
G CCDC107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,510,289...35,513,195
Ensembl chr 9:36,312,688...36,315,926 		JBrowse link
G CCIN calicin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,014,394...36,021,056
Ensembl chr 9:36,820,373...36,822,139 		JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,525,820...34,527,628
Ensembl chr 9:35,334,353...35,336,108 		JBrowse link
G CCL21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,545,248...34,546,801
Ensembl chr 9:35,353,768...35,354,924 		JBrowse link
G CCL27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,498,478...34,501,475
Ensembl chr 9:35,307,175...35,308,146 		JBrowse link
G CD72 CD72 molecule ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,461,685...35,470,578
Ensembl chr 9:36,264,500...36,273,326 		JBrowse link
G CHMP5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,043,148...33,059,564
Ensembl chr 9:33,851,377...33,867,942 		JBrowse link
G CIMIP2B ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,411,930...35,442,971
Ensembl chr 9:36,216,030...36,260,042 		JBrowse link
G CLTA clathrin light chain A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,040,566...36,061,744
Ensembl chr 9:36,840,868...36,862,528 		JBrowse link
G CNTFR ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,387,929...34,426,907
Ensembl chr 9:35,197,474...35,214,977 		JBrowse link
G CNTNAP1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 NCBI chr17:14,618,294...14,635,193
Ensembl chr17:14,842,577...14,858,896 		JBrowse link
G CREB3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,583,351...35,587,870
Ensembl chr 9:36,385,867...36,390,540 		JBrowse link
G DCAF12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,923,900...33,964,443
Ensembl chr 9:34,733,845...34,775,624 		JBrowse link
G DCTN3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,450,134...34,457,112
Ensembl chr 9:35,259,561...35,266,533 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,295,010...34,357,331
Ensembl chr 9:35,104,297...35,167,454 		JBrowse link
G DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,800,077...32,814,745
Ensembl chr 9:33,608,502...33,622,275 		JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,836,691...34,845,471
Ensembl chr 9:35,643,056...35,651,879 		JBrowse link
G ENHO energy homeostasis associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,357,384...34,359,369
Ensembl chr 9:35,167,934...35,168,164 		JBrowse link
G EXOSC3 exosome component 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,611,173...37,634,869
Ensembl chr 9:38,552,659...38,558,078 		JBrowse link
G FAM219A family with sequence similarity 219 member A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,234,499...34,294,823
Ensembl chr 9:35,043,472...35,103,920 		JBrowse link
G FAM221B family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,668,180...35,679,557
Ensembl chr 9:36,471,284...36,479,018 		JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648 		JBrowse link
G FBXO10 F-box protein 10 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,355,861...37,421,321
Ensembl chr 9:38,279,653...38,345,040 		JBrowse link
G FRMPD1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,497,210...37,595,867
Ensembl chr 9:38,421,706...38,519,025 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,587,876...35,599,971
Ensembl chr 9:36,390,409...36,402,949 		JBrowse link
G GLIPR2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,986,341...36,013,662
Ensembl chr 9:36,787,649...36,814,812 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,267,918...37,282,253
Ensembl chr 9:38,192,149...38,206,478 		JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,663,433...35,666,479
Ensembl chr 9:36,465,806...36,468,325 		JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,760,064...35,762,224
Ensembl chr 9:36,563,148...36,563,420
Ensembl chr 9:36,563,148...36,563,420 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,487,313...34,498,477 JBrowse link
G KIF24 kinesin family member 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,088,760...34,165,306
Ensembl chr 9:34,898,729...34,973,978 		JBrowse link
G LOC100981170 olfactory receptor 13J1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,718,990...35,722,649 JBrowse link
G LOC103782669 myosin-8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr17:41,231,081...41,262,671
Ensembl chr17:45,978,472...46,010,038 		JBrowse link
G MELK maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,419,974...36,522,584
Ensembl chr 9:37,219,170...37,321,318 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:30777867 NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159 		JBrowse link
G MSMP microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,603,948...35,605,085
Ensembl chr 9:36,406,679...36,407,845 		JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735 		JBrowse link
G MYORG myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,205,177...34,213,351
Ensembl chr 9:35,015,847...35,017,991 		JBrowse link
G NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,327,973...32,347,518
Ensembl chr 9:33,137,836...33,157,006 		JBrowse link
G NFX1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,068,235...33,149,271
Ensembl chr 9:33,876,836...33,959,924 		JBrowse link
G NOL6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,242,163...33,291,503
Ensembl chr 9:34,053,100...34,100,854 		JBrowse link
G NPR2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,165,452...34,179,722
Ensembl chr 9:34,974,240...34,988,453 		JBrowse link
G PAX5 paired box 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,677,369...36,876,678
Ensembl chr 9:37,474,267...37,673,684 		JBrowse link
G PHF24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,735,800...34,829,555
Ensembl chr 9:35,611,517...35,635,964 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,939,258...34,947,167
Ensembl chr 9:35,744,664...35,752,522 		JBrowse link
G POLR1E RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,331,149...37,348,652
Ensembl chr 9:38,255,067...38,272,498 		JBrowse link
G PRSS3 serine protease 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,589,522...33,637,991
Ensembl chr 9:34,401,323...34,449,666 		JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,886,741...35,974,133
Ensembl chr 9:36,699,631...36,774,116 		JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,600,213...35,641,371
Ensembl chr 9:36,403,447...36,411,420 		JBrowse link
G RIGI RNA sensor RIG-I ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,230,012...32,302,159
Ensembl chr 9:33,040,000...33,110,557 		JBrowse link
G RNF38 ring finger protein 38 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,185,284...36,335,915
Ensembl chr 9:36,985,433...37,048,013 		JBrowse link
G RPP25L ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,447,073...34,448,762
Ensembl chr 9:35,256,822...35,257,313 		JBrowse link
G RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,339,146...35,411,989
Ensembl chr 9:36,200,865...36,215,582 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,471,362...34,474,459 JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,501,346...35,502,992
Ensembl chr 9:36,303,675...36,305,328 		JBrowse link
G SMU1 SMU1 DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,819,539...32,851,273
Ensembl chr 9:33,628,027...33,659,539 		JBrowse link
G SPAG8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,658,541...35,662,920
Ensembl chr 9:36,460,951...36,465,112 		JBrowse link
G SPATA31F1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,674,545...34,680,875 JBrowse link
G SPATA31G1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,892,418...34,896,577
Ensembl chr 9:35,697,549...35,702,395 		JBrowse link
G SPINK4 serine peptidase inhibitor Kazal type 4 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532
G SPMIP6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,215,298...34,234,358
Ensembl chr 9:35,024,088...35,043,323 		JBrowse link
G STOML2 stomatin like 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,950,387...34,953,707
Ensembl chr 9:35,755,790...35,759,091 		JBrowse link
G TAF1L TATA-box binding protein associated factor 1 like ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,403,835...32,409,767
Ensembl chr 9:33,216,048...33,221,525 		JBrowse link
G TESK1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,456,965...35,461,736
Ensembl chr 9:36,258,902...36,264,545 		JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,549,328...35,583,376
Ensembl chr 9:36,351,836...36,379,228 		JBrowse link
G TMEM215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,557,141...32,563,166
Ensembl chr 9:33,369,459...33,370,166 		JBrowse link
G TMEM8B transmembrane protein 8B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,679,698...35,704,945
Ensembl chr 9:36,482,289...36,507,300 		JBrowse link
G TOMM5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,433,186...37,437,397
Ensembl chr 9:38,357,617...38,361,267 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,314,850...32,327,067
Ensembl chr 9:33,124,730...33,135,129 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A OMIM
ClinVar		 PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 More... NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394 		JBrowse link
G TRMT10B tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,602,757...37,628,693
Ensembl chr 9:38,526,496...38,551,902 		JBrowse link
G UBAP1 ubiquitin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,015,077...34,088,908
Ensembl chr 9:34,825,825...34,898,868 		JBrowse link
G UBAP2 ubiquitin associated protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,759,877...33,887,146
Ensembl chr 9:34,570,883...34,697,752 		JBrowse link
G UBE2R2 ubiquitin conjugating enzyme E2 R2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,655,690...33,758,587 JBrowse link
G UNC13B unc-13 homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,011,350...35,255,148
Ensembl chr 9:35,817,353...36,059,894 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588 		JBrowse link
G ZBTB5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,282,824...37,310,710
Ensembl chr 9:38,209,979...38,212,012 		JBrowse link
G ZCCHC7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,962,689...37,201,092 JBrowse link
distal arthrogryposis type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYBPC1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B OMIM
ClinVar		 PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 More... NCBI chr12:99,179,611...99,269,521
Ensembl chr12:102,578,014...102,669,618 		JBrowse link
distal arthrogryposis type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYL11 myosin light chain 11 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C OMIM
ClinVar		 PMID:25741868 PMID:32707087 NCBI chr16:24,591,731...24,598,807
Ensembl chr16:30,747,060...30,751,165 		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 ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928 		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 ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 OMIM
ClinVar		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		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 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 OMIM
ClinVar		 PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr 6:114,173,641...114,246,129
Ensembl chr 6:118,347,786...118,386,193 		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 ClinVar Annotator: match by term: Eiken skeletal dysplasia | ClinVar Annotator: match by term: Eiken syndrome OMIM
ClinVar		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 NCBI chr 3:46,777,945...46,804,039
Ensembl chr 3:47,894,901...47,905,431 		JBrowse link
Flatfoot term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPT2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Pes planus ClinVar PMID:20564469 PMID:24161884 PMID:25741868 PMID:28492532 NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371 		JBrowse link
G HOXD10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 PMID:16450407 PMID:24239177 NCBI chr2B:63,395,636...63,399,704
Ensembl chr2B:181,104,876...181,110,963 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 PMID:28492532 NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383 		JBrowse link
G KCNA6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 NCBI chr12:4,926,069...4,968,475
Ensembl chr12:4,847,510...4,849,099 		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 ClinVar Annotator: match by term: Fuhrmann syndrome OMIM
ClinVar		 PMID:9128926 PMID:16826533 PMID:25741868 PMID:28492532 NCBI chr 3:13,733,487...13,797,189
Ensembl chr 3:14,077,839...14,138,386 		JBrowse link
Hallux Valgus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPYD dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100 		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 ClinVar Annotator: match by term: HFG syndrome | ClinVar Annotator: match by term: Hand-foot-genital syndrome OMIM
ClinVar		 PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 More... NCBI chr 7:27,838,656...27,844,562 JBrowse link
G HOXA9 homeobox A9 ISO ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar NCBI chr 7:27,806,942...27,810,304
Ensembl chr 7:27,405,931...27,409,984 		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 ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome OMIM
ClinVar		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome OMIM
ClinVar		 PMID:7581378 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719344 More... NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		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 ClinVar Annotator: match by term: Laurin-Sandrow syndrome OMIM
ClinVar		 PMID:16059937 PMID:24456159 NCBI chr 7:148,301,263...148,512,407
Ensembl chr 7:159,999,389...160,152,858 		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 chr13:2,967,713...3,000,554
Ensembl chr13:21,273,333...21,307,198 		JBrowse link
G GDF5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr20:31,761,199...31,766,229
Ensembl chr20:32,882,094...32,886,899 		JBrowse link
G NOG noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome OMIM
ClinVar		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092 		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 6:154,581,148...155,018,706 JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:11,047,357...11,261,172
Ensembl chr  X:18,492,329...18,638,735 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:11,259,222...11,282,289
Ensembl chr  X:18,624,687...18,657,315 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy | ClinVar Annotator: match by term: SMARCA2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19606471 PMID:22366787 More... NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409 		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 ClinVar Annotator: match by term: Oculodentodigital dysplasia OMIM
ClinVar		 PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... NCBI chr 6:119,213,513...119,227,617 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 ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive OMIM
ClinVar		 PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 More... NCBI chr 6:119,213,513...119,227,617 JBrowse link
G TBC1D32 TBC1 domain family member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr 6:118,884,928...119,139,138
Ensembl chr 6:123,022,008...123,273,810 		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: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome OMIM
ClinVar		 PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... NCBI chr 7:148,301,263...148,512,407
Ensembl chr 7:159,999,389...160,152,858 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G RNF32 ring finger protein 32 ISO ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 7:148,262,103...148,300,794
Ensembl chr 7:159,956,081...159,992,424 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		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 ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 More... NCBI chr 7:148,301,263...148,512,407
Ensembl chr 7:159,999,389...160,152,858 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:18463159 PMID:20569257 RGD:12801447 RGD:12801448 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
Richieri Costa Pereira Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100988043 eukaryotic initiation factor 4A-III ISO ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome OMIM
ClinVar		 PMID:24360810 NCBI chr17:74,221,793...74,233,738 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 ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss OMIM
ClinVar		 PMID:22121204 NCBI chr 7:88,972,066...88,977,588
Ensembl chr 7:102,555,267...102,561,186 		JBrowse link
Synpolydactyly 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN1 fibulin 1 ISO ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr22:26,390,379...26,488,737
Ensembl chr22:44,582,843...44,666,011 		JBrowse link
Talipes Cavus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868 PMID:26392352 PMID:26633542 PMID:28492532 PMID:30122514 NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532 NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532 NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868 NCBI chr  X:60,490,579...60,492,606
Ensembl chr  X:70,547,110...70,547,961 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pes cavus ClinVar NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371 		JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:7688964 PMID:8644725 PMID:8797476 PMID:10545037 PMID:10581375 More... NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 More... NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868 PMID:26392352 PMID:26467025 PMID:26872463 PMID:28492532 NCBI chr 5:144,412,449...144,490,183
Ensembl chr 5:150,438,976...150,498,354 		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 ClinVar Annotator: match by term: TARP syndrome OMIM
ClinVar		 PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 More... NCBI chr  X:39,582,480...39,623,749
Ensembl chr  X:47,440,815...47,481,204 		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 ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome OMIM
ClinVar		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 More... NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092 		JBrowse link
Teebi hypertelorism syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO ClinVar Annotator: match by term: Teebi hypertelorism syndrome ClinVar PMID:17506099 PMID:25412741 PMID:25741868 PMID:25741869 PMID:26111080 More... NCBI chr22:5,078,435...5,224,090
Ensembl chr22:21,943,630...22,089,686 		JBrowse link
Teebi hypertelorism syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MID1 midline 1 ISO ClinVar Annotator: match by term: Opitz-Frias syndrome ClinVar PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More... NCBI chr  X:3,075,834...3,463,845
Ensembl chr  X:10,328,476...10,459,284 		JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO ClinVar Annotator: match by term: Opitz-Frias syndrome | ClinVar Annotator: match by term: SPECC1L-related condition | ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1 OMIM
ClinVar		 PMID:3228142 PMID:25412741 PMID:25741868 PMID:28492532 PMID:30472488 More... NCBI chr22:5,078,435...5,224,090
Ensembl chr22:21,943,630...22,089,686 		JBrowse link
Teebi hypertelorism syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH11 cadherin 11 ISO ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 OMIM
ClinVar		 PMID:33811546 NCBI chr16:45,261,269...45,436,597
Ensembl chr16:64,367,862...64,475,028 		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 ClinVar Annotator: match by term: Terminal osseous dysplasia | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome OMIM
ClinVar		 PMID:9536098 PMID:9800904 PMID:10982489 PMID:10982965 PMID:12612583 More... NCBI chr  X:143,799,088...143,825,282 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 ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III OMIM
ClinVar		 PMID:9536098 PMID:10615131 PMID:11112658 PMID:11807863 PMID:11950061 More... NCBI chr 8:112,079,147...112,339,567 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 chr11:6,753,383...6,787,896
Ensembl chr11:6,436,536...6,456,352 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome ClinVar PMID:24033266 PMID:24056717 PMID:24913602 PMID:28492532 NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407 		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 ClinVar Annotator: match by term: Van Maldergem syndrome 1 OMIM
ClinVar		 PMID:22473091 PMID:24056717 PMID:25741868 PMID:28492532 NCBI chr11:6,753,383...6,787,896
Ensembl chr11:6,436,536...6,456,352 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:28492532 NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407 		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 ClinVar Annotator: match by term: FAT4-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 More... NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7805
        Foot Deformities 178
          Congenital Foot Deformities + 176
          Foot Deformities, Acquired + 47
          Hallux Valgus + 2
          Hallux Varus + 0
          Hammer Toe Syndrome 0
          Kantaputra Gorlin Syndrome 0
          Krauss Herman Holmes Syndrome 0
          Metatarsal Valgus 0
          Metatarsus Varus 0
paths to the root