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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 IAGP
ISS
EXP
ClinVar Annotator: match by term: Acheiropodia
OMIM:200500
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:11090342 PMID:33863876 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 HDAC4 histone deacetylase 4 IAGP ClinVar Annotator: match by term: Brachydactyly syndrome type E ClinVar PMID:11486037 PMID:25741868 PMID:33537682 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HOXD13 homeobox D13 IAGP
EXP
ClinVar Annotator: match by term: Brachydactyly type E1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:12414828 PMID:12620993 PMID:12649808 PMID:16314414 PMID:22233338 More... 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
EXP
ClinVar Annotator: match by term: Brachydactyly type E2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:20170896 PMID:25741868 PMID:25801215 PMID:26763883 PMID:29947179 More... NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733
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 IAGP ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia ClinVar PMID:20661588 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
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
EXP
DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome
CTD Direct Evidence: marker/mechanism
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
CTD
OMIM
RGD
PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More... RGD:11576280 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G LOC130064543 ATAC-STARR-seq lymphoblastoid silent region 10681 IAGP ClinVar Annotator: match by term: CAPOS syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:41,993,964...41,994,403 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
EXP
ClinVar Annotator: match by term: Chitayat syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 More... 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 chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
JBrowse link
G ATP2B1 ATPase plasma membrane Ca2+ transporting 1 IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr12:89,588,049...89,709,366
Ensembl chr12:89,588,049...89,709,366
JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 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 4:122,152,331...122,364,167
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 More... NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
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 chr15:40,470,984...40,473,158
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI 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: Congenital Talipes Equinovarus ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808
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 3:58,008,398...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...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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
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:26748598 PMID:27401686 More... NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
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 9:126,613,928...126,701,032
JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16936070 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY ClinVar PMID:25741868 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G PITX1 paired like homeodomain 1 IAGP
ISS
EXP
ClinVar Annotator: match by term: Talipes equinovarus
ClinVar Annotator: match by term: PITX1-related condition
ClinVar Annotator: match by term: Clubfoot
OMIM:119800
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY
ClinVar
MouseDO
CTD
OMIM
PMID:18950742 PMID:22258522 PMID:25741868 PMID:28492532 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813
JBrowse link
G PITX1-AS1 PITX1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Talipes equinovarus
ClinVar Annotator: match by term: Clubfoot
ClinVar PMID:25741868 NCBI chr 5:135,033,274...135,344,680
Ensembl chr 5:135,033,280...135,358,219
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
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 RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Talipes equinovarus ClinVar PMID:18253 PMID:7299413 PMID:16380615 PMID:17033962 PMID:17365175 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISS OMIM:119800 MouseDO NCBI chr11:68,039,025...68,053,762
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 More... 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: Talipes equinovarus ClinVar PMID:2128891 PMID:20037587 PMID:20037588 PMID:21288981 PMID:21454511 More... NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Bilateral talipes equinovarus ClinVar PMID:23861362 PMID:25741868 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 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G UNC13C unc-13 homolog C IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr15:53,837,602...54,633,440
Ensembl chr15:53,978,201...54,628,707
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 WAPL WAPL cohesin release factor IAGP ClinVar Annotator: match by term: Clubfoot ClinVar PMID:25741868 NCBI chr10:86,435,256...86,521,792
Ensembl chr10:86,435,256...86,521,792
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 IAGP
EXP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Camptosynpolydactyly, complex
OMIM
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
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...156,140,081
JBrowse link
G PTHLH parathyroid hormone like hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:20170896 NCBI chr12:27,958,084...27,972,733
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 HOXD10 homeobox D10 IAGP
EXP
ClinVar Annotator: match by term: Vertical talus, congenital
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital vertical talus
ClinVar
CTD
OMIM
PMID:15146389 PMID:16450407 PMID:25741868 NCBI chr 2:176,116,778...176,119,937
Ensembl chr 2:176,108,790...176,119,937
JBrowse link
distal arthrogryposis type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:30777867 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G MYH8 myosin heavy chain 8 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 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: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 NCBI chr17:10,383,132...10,625,540
Ensembl chr17:10,383,144...10,623,886
JBrowse link
G TPM2 tropomyosin 2 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:11738357 PMID:17846275 PMID:18414213 PMID:18420702 PMID:18422639 More... NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
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 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,524,251...33,575,442
Ensembl chr 9:33,524,251...33,608,848
JBrowse link
G APTX aprataxin IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130
JBrowse link
G AQP3 aquaporin 3 (Gill blood group) IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,441,160...33,447,593
Ensembl chr 9:33,441,156...33,447,596
JBrowse link
G AQP7 aquaporin 7 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,383,191...33,402,568
Ensembl chr 9:33,383,179...33,402,682
JBrowse link
G ARHGEF39 Rho guanine nucleotide exchange factor 39 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,659,343...35,665,195
Ensembl chr 9:35,658,875...35,675,866
JBrowse link
G ARID3C AT-rich interaction domain 3C IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,621,049...34,633,011
Ensembl chr 9:34,621,049...34,629,066
JBrowse link
G ATOSB atos homolog B IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,104,117...35,116,380
Ensembl chr 9:35,104,112...35,116,341
JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,104,082...33,167,356
JBrowse link
G BAG1 BAG cochaperone 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,252,471...33,264,708
Ensembl chr 9:33,247,820...33,264,720
JBrowse link
G CA9 carbonic anhydrase 9 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,673,928...35,681,159
Ensembl chr 9:35,673,928...35,681,159
JBrowse link
G CCDC107 coiled-coil domain containing 107 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,658,292...35,661,511
Ensembl chr 9:35,658,290...35,661,511
JBrowse link
G CCIN calicin IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:36,169,388...36,171,334
Ensembl chr 9:36,169,388...36,171,334
JBrowse link
G CCL19 C-C motif chemokine ligand 19 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
JBrowse link
G CCL21 C-C motif chemokine ligand 21 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,709,005...34,710,136
Ensembl chr 9:34,709,005...34,710,136
JBrowse link
G CCL27 C-C motif chemokine ligand 27 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,661,890...34,662,657
Ensembl chr 9:34,661,880...34,664,048
JBrowse link
G CD72 CD72 molecule IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,609,982...35,646,857
Ensembl chr 9:35,609,982...35,646,810
JBrowse link
G CHMP5 charged multivesicular body protein 5 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,265,049...33,282,070
Ensembl chr 9:33,264,879...33,282,070
JBrowse link
G CIMIP2B ciliary microtubule inner protein 2B IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,561,831...35,563,878
Ensembl chr 9:35,561,831...35,563,899
JBrowse link
G CLTA clathrin light chain A IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:36,190,874...36,212,059
Ensembl chr 9:36,190,856...36,304,781
JBrowse link
G CNTFR ciliary neurotrophic factor receptor IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,551,433...34,590,852
Ensembl chr 9:34,551,432...34,590,140
JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993
JBrowse link
G CREB3 cAMP responsive element binding protein 3 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:35,732,666...35,736,999
Ensembl chr 9:35,732,598...35,736,999
JBrowse link
G DCAF12 DDB1 and CUL4 associated factor 12 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,086,387...34,126,698
Ensembl chr 9:34,086,387...34,127,399
JBrowse link
G DCTN3 dynactin subunit 3 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,613,546...34,620,495
Ensembl chr 9:34,613,545...34,620,523
JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
JBrowse link
G DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,025,273...33,039,907
Ensembl chr 9:33,025,273...33,039,907
JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,989,745...34,998,900
Ensembl chr 9:34,989,641...34,998,900
JBrowse link
G ENHO energy homeostasis associated IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,521,043...34,522,990
Ensembl chr 9:34,521,043...34,522,990
JBrowse link
G EXOSC3 exosome component 3 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117
JBrowse link
G FAM219A family with sequence similarity 219 member A IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,398,184...34,458,570
Ensembl chr 9:34,398,184...34,458,570
JBrowse link
G FAM221B family with sequence similarity 221 member B IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:35,816,391...35,828,732
Ensembl chr 9:35,816,391...35,828,747
JBrowse link
G FANCG FA complementation group G IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
JBrowse link
G FBXO10 F-box protein 10 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,510,892...37,576,380
Ensembl chr 9:37,510,892...37,576,380
JBrowse link
G FRMPD1 FERM and PDZ domain containing 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,603,229...37,746,904
Ensembl chr 9:37,650,954...37,746,904
JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035
JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
JBrowse link
G GLIPR2 GLI pathogenesis related 2 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:36,136,536...36,163,913
Ensembl chr 9:36,136,536...36,163,913
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042
JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,422,435...37,439,494
Ensembl chr 9:37,422,666...37,436,990
JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:35,812,960...35,815,479
Ensembl chr 9:35,812,960...35,815,354
JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:35,906,202...35,907,136
Ensembl chr 9:35,906,202...35,907,136
JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902
JBrowse link
G KIF24 kinesin family member 24 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,252,380...34,333,671
Ensembl chr 9:34,252,380...34,329,268
JBrowse link
G MELK maternal embryonic leucine zipper kinase IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,572,895...36,677,682
Ensembl chr 9:36,572,862...36,677,683
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:30777867 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G MSMP microseminoprotein, prostate associated IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:35,752,990...35,754,276
Ensembl chr 9:35,752,990...35,756,613
JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25741868 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G MYH8 myosin heavy chain 8 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25741868 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: Distal arthrogryposis type 1A ClinVar PMID:25741868 NCBI chr17:10,383,132...10,625,540
Ensembl chr17:10,383,144...10,623,886
JBrowse link
G MYORG myogenesis regulating glycosidase (putative) IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898
JBrowse link
G NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,553,001...32,573,159
Ensembl chr 9:32,553,001...32,573,184
JBrowse link
G NFX1 nuclear transcription factor, X-box binding 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,290,516...33,371,157
Ensembl chr 9:33,290,512...33,371,157
JBrowse link
G NOL6 nucleolar protein 6 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,461,353...33,473,924
Ensembl chr 9:33,461,353...33,473,930
JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732
JBrowse link
G NUDT2 nudix hydrolase 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,329,569...34,343,699
Ensembl chr 9:34,329,506...34,343,711
JBrowse link
G OR13J1 olfactory receptor family 13 subfamily J member 1 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:35,869,463...35,870,401
Ensembl chr 9:35,869,463...35,870,401
JBrowse link
G OR2S2 olfactory receptor family 2 subfamily S member 2 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:35,957,108...35,958,154
Ensembl chr 9:35,957,108...35,958,154
JBrowse link
G PAX5 paired box 5 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,833,269...37,034,268
Ensembl chr 9:36,833,269...37,034,268
JBrowse link
G PHF24 PHD finger protein 24 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,665,607...34,982,544
Ensembl chr 9:34,957,608...34,982,544
JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,087,237...35,096,619
JBrowse link
G POLR1E RNA polymerase I subunit E IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,485,948...37,503,697
Ensembl chr 9:37,485,948...37,503,697
JBrowse link
G PRSS3 serine protease 3 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,750,679...33,799,231
Ensembl chr 9:33,750,679...33,799,231
JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:36,036,913...36,124,455
Ensembl chr 9:36,036,913...36,124,455
JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:35,749,287...35,790,428
Ensembl chr 9:35,749,287...35,758,585
JBrowse link
G RIGI RNA sensor RIG-I IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,208
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G RNF38 ring finger protein 38 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,336,400...36,487,669
Ensembl chr 9:36,336,396...36,487,548
JBrowse link
G RPP25L ribonuclease P/MRP subunit p25 like IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,610,495...34,612,097
Ensembl chr 9:34,610,486...34,612,104
JBrowse link
G RUSC2 RUN and SH3 domain containing 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,490,111...35,561,895
Ensembl chr 9:35,490,111...35,561,898
JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844
JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,649,295...35,650,931
Ensembl chr 9:35,649,295...35,650,931
JBrowse link
G SMU1 SMU1 DNA replication regulator and spliceosomal factor IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,041,765...33,076,674
Ensembl chr 9:33,041,765...33,076,674
JBrowse link
G SPAG8 sperm associated antigen 8 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:35,807,785...35,812,262
Ensembl chr 9:35,808,045...35,812,272
JBrowse link
G SPATA31F1 SPATA31 subfamily F member 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,723,053...34,729,488
Ensembl chr 9:34,723,053...34,729,488
JBrowse link
G SPATA31G1 SPATA31 subfamily G member 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,041,095...35,045,986
Ensembl chr 9:35,041,095...35,045,986
JBrowse link
G SPINK4 serine peptidase inhibitor Kazal type 4 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,240,167...33,248,567
Ensembl chr 9:33,218,365...33,248,567
JBrowse link
G SPMIP6 sperm microtubule inner protein 6 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,379,019...34,397,810
Ensembl chr 9:34,379,019...34,397,828
JBrowse link
G STOML2 stomatin like 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,099,776...35,103,195
Ensembl chr 9:35,099,776...35,103,195
JBrowse link
G TAF1L TATA-box binding protein associated factor 1 like IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,629,454...32,635,669
Ensembl chr 9:32,629,454...32,635,669
JBrowse link
G TESK1 testis associated actin remodelling kinase 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,605,262...35,610,033
Ensembl chr 9:35,605,262...35,610,041
JBrowse link
G TLN1 talin 1 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:35,696,948...35,732,195
Ensembl chr 9:35,696,948...35,732,195
JBrowse link
G TMEM215 transmembrane protein 215 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,783,540...32,789,201
Ensembl chr 9:32,783,540...32,789,201
JBrowse link
G TMEM8B transmembrane protein 8B IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 1A
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar PMID:28492532 NCBI chr 9:35,829,228...35,865,515
Ensembl chr 9:35,814,451...35,865,518
JBrowse link
G TOMM5 translocase of outer mitochondrial membrane 5 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,588,413...37,592,597
Ensembl chr 9:37,582,646...37,592,604
JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
JBrowse link
G TPM2 tropomyosin 2 IAGP
EXP
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal arthrogryposis type 1A
OMIM
ClinVar
CTD
PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 More... NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G TRMT10B tRNA methyltransferase 10B IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,752,901...37,778,972
Ensembl chr 9:37,753,803...37,778,972
JBrowse link
G UBAP1 ubiquitin associated protein 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523
JBrowse link
G UBAP2 ubiquitin associated protein 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,921,693...34,049,199
Ensembl chr 9:33,921,693...34,049,388
JBrowse link
G UBE2R2 ubiquitin conjugating enzyme E2 R2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,815,168...33,920,399
Ensembl chr 9:33,817,160...33,920,399
JBrowse link
G UNC13B unc-13 homolog B IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,162,009...35,405,335
Ensembl chr 9:35,161,992...35,405,338
JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link
G ZBTB5 zinc finger and BTB domain containing 5 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,438,102...37,465,450
Ensembl chr 9:37,438,102...37,465,450
JBrowse link
G ZCCHC7 zinc finger CCHC-type containing 7 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,120,167...37,358,149
Ensembl chr 9:37,120,574...37,358,149
JBrowse link
distal arthrogryposis type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC105369937 uncharacterized LOC105369937 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B ClinVar PMID:28492532 NCBI chr12:101,646,720...101,650,871 JBrowse link
G MYBPC1 myosin binding protein C1 IAGP
EXP
ClinVar Annotator: match by term: Distal arthrogryposis type 1B
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B
ClinVar
CTD
OMIM
PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 More... NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028
JBrowse link
distal arthrogryposis type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112441444 Sharpr-MPRA regulatory region 9884 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 1C
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C
ClinVar PMID:32707087 NCBI chr16:30,377,708...30,378,190 JBrowse link
G MYL11 myosin light chain 11 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 1C
OMIM
ClinVar
PMID:25741868 PMID:32707087 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991
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
EXP
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ClinVar Annotator: match by term: Gordon syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot
ClinVar
CTD
OMIM
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chr18:10,670,247...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
ISS
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
ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
OMIM:604292
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
MouseDO
CTD
OMIM
RGD
PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... 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
EXP
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr 6:116,254,171...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
EXP
DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Eiken syndrome
ClinVar Annotator: match by term: Eiken skeletal dysplasia
CTD
ClinVar
OMIM
RGD
PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 More... RGD:12910707 NCBI chr 3:46,877,721...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 CPT2 carnitine palmitoyltransferase 2 IAGP ClinVar Annotator: match by term: flatfoot ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Pes planus ClinVar PMID:20564469 PMID:24161884 PMID:25741868 PMID:28492532 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G HOXD10 homeobox D10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15146389 PMID:16450407 PMID:24239177 NCBI chr 2:176,116,778...176,119,937
Ensembl chr 2:176,108,790...176,119,937
JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 PMID:28492532 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G KCNA6 potassium voltage-gated channel subfamily A member 6 IAGP ClinVar Annotator: match by term: flatfoot ClinVar PMID:25741868 NCBI chr12:4,809,334...4,851,112
Ensembl chr12:4,809,334...4,813,318
JBrowse link
Fuhrmann syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126806608 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:13895244-13896443 IAGP ClinVar Annotator: match by term: Fuhrmann syndrome ClinVar PMID:9128926 PMID:16826533 PMID:25741868 PMID:28492532 NCBI chr 3:13,853,196...13,855,133 JBrowse link
G WNT7A Wnt family member 7A IAGP
ISS
EXP
ClinVar Annotator: match by term: Fuhrmann syndrome
OMIM:228930
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:9128926 PMID:16826533 PMID:25741868 PMID:28492532 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 DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: Hallux valgus ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
hand-foot-genital syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA10-HOXA9 HOXA10-HOXA9 readthrough IAGP ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar NCBI chr 7:27,162,438...27,180,261 JBrowse link
G HOXA13 homeobox A13 IAGP
ISS
EXP
hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter
ClinVar Annotator: match by term: Hand-foot-genital syndrome
ClinVar Annotator: match by term: Hand foot uterus syndrome
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
OMIM
RGD
PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 More... RGD:1599526 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
JBrowse link
G HOXA9 homeobox A9 IAGP ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar NCBI chr 7:27,162,438...27,165,537
Ensembl chr 7:27,162,438...27,175,180
JBrowse link
G LOC107126288 NUP98-HOXA13 recombination region IAGP ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar PMID:1442892 PMID:2774004 PMID:9020844 PMID:10839976 PMID:12073020 More... NCBI chr 7:27,198,443...27,202,743 JBrowse link
G LOC107197952 NUP98-HOXA9 recombination region IAGP ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar NCBI chr 7:27,163,062...27,169,241 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
EXP
ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jackson-Weiss syndrome
OMIM
ClinVar
CTD
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... 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
EXP
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:7581378 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719344 More... RGD:12801470 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...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
EXP
ClinVar Annotator: match by term: Laurin-Sandrow syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 LOC129999724 ATAC-STARR-seq lymphoblastoid active region 26912 IAGP ClinVar Annotator: match by term: Laurin-Sandrow syndrome ClinVar PMID:24456159
G LOC129999725 ATAC-STARR-seq lymphoblastoid active region 26913 IAGP ClinVar Annotator: match by term: Laurin-Sandrow syndrome ClinVar PMID:24456159
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...21,704,498
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
RGD
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
EXP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human)
CTD
ClinVar
OMIM
RGD
PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI 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 LOC130001461 ATAC-STARR-seq lymphoblastoid silent region 19728 IAGP ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar NCBI chr 9:2,015,057...2,015,396 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
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
ClinVar Annotator: match by term: SMARCA2-related BAFopathy
ClinVar Annotator: match by term: SMARCA2-related condition
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19606471 PMID:22366787 More... 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
ISS
EXP
DNA:missense mutation:cds:p.G60S (mouse)
ClinVar Annotator: match by term: Oculodentodigital dysplasia
OMIM:164200 | OMIM:257850
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
MouseDO
CTD
OMIM
RGD
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... 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
EXP
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 More... NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G TBC1D32 TBC1 domain family member 32 IAGP ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr 6:121,079,494...121,334,729
Ensembl chr 6:121,079,494...121,334,745
JBrowse link
Patterson Stevenson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LINC00244 long intergenic non-protein coding RNA 244 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 7:156,540,491...156,541,101
Ensembl chr 7:156,540,491...156,541,103
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome
ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME
ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB
ClinVar
OMIM
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... 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 Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome
ClinVar PMID:17300748 PMID:18178630 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 Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome
ClinVar PMID:17300748 PMID:18178630 PMID:18417549 NCBI chr 7:156,765,178...156,768,157 JBrowse link
G LOC126860251 MED14-independent group 3 enhancer GRCh37_chr7:156449836-156451035 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 7:156,657,142...156,658,341 JBrowse link
G LOC126860252 MED14-independent group 3 enhancer GRCh37_chr7:156707384-156708583 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 7:156,914,690...156,915,889 JBrowse link
G LOC129999719 ATAC-STARR-seq lymphoblastoid active region 26907 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999720 ATAC-STARR-seq lymphoblastoid active region 26908 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999721 ATAC-STARR-seq lymphoblastoid active region 26909 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999722 ATAC-STARR-seq lymphoblastoid active region 26910 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999723 ATAC-STARR-seq lymphoblastoid active region 26911 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:17300748 PMID:18178630 PMID:18417549
G LOC129999724 ATAC-STARR-seq lymphoblastoid active region 26912 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:17300748 PMID:18178630 PMID:18417549
G LOC129999725 ATAC-STARR-seq lymphoblastoid active region 26913 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:17300748 PMID:18178630 PMID:18417549
G LOC129999726 ATAC-STARR-seq lymphoblastoid silent region 18852 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999727 ATAC-STARR-seq lymphoblastoid silent region 18853 IAGP ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome
ClinVar PMID:18178630 PMID:28492532
G LOC129999728 ATAC-STARR-seq lymphoblastoid active region 26914 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999729 ATAC-STARR-seq lymphoblastoid active region 26915 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999730 ATAC-STARR-seq lymphoblastoid active region 26916 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC129999731 ATAC-STARR-seq lymphoblastoid active region 26917 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630
G LOC285889 uncharacterized LOC285889 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 7:156,437,789...156,445,588 JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G RNF32 ring finger protein 32 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 7:156,640,204...156,677,130
Ensembl chr 7:156,640,281...156,677,130
JBrowse link
G RNF32-AS1 RNF32 antisense RNA 1 IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 7:156,654,742...156,659,587
Ensembl chr 7:156,654,185...156,659,582
JBrowse link
G RNF32-DT RNF32 divergent transcript IAGP ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 7:156,472,099...156,640,535
Ensembl chr 7:156,388,922...156,640,654
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 Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME
ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome
ClinVar PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... 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
EXP
ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome
ClinVar Annotator: match by term: Polydactyly, preaxial II
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: TPT-PS SYNDROME
ClinVar
CTD
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 More... NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G LOC129999727 ATAC-STARR-seq lymphoblastoid silent region 18853 IAGP ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:28492532
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 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 OMIM
ClinVar
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 More... 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
EXP
ClinVar Annotator: match by term: Richieri Costa Pereira syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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
EXP
ClinVar Annotator: match by term: DEAFNESS, CONGENITAL, WITH SPLIT HANDS AND FEET
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:22121204 NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950
JBrowse link
Synpolydactyly 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN1 fibulin 1 IAGP
EXP
ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Synpolydactyly 2
OMIM
ClinVar
CTD
PMID:25741868 PMID:28492532 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 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868 PMID:26392352 PMID:26633542 PMID:28492532 PMID:30122514 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033
JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:28492532 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007
JBrowse link
G GJB1 gap junction protein beta 1 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868 NCBI chr  X:71,215,239...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
JBrowse link
G MPZ myelin protein zero IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:7688964 PMID:8644725 PMID:8797476 PMID:10545037 PMID:10581375 More... NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968
JBrowse link
G NEFL neurofilament light chain IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 More... NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP ClinVar Annotator: match by term: Pes cavus ClinVar PMID:25741868 PMID:26392352 PMID:26467025 PMID:26872463 PMID:28492532 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163
JBrowse link
TARP syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126863252 CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:47037923-47039122 IAGP ClinVar Annotator: match by term: TARP syndrome ClinVar PMID:24259342 PMID:25741868 NCBI chr  X:47,178,524...47,179,723 JBrowse link
G RBM10 RNA binding motif protein 10 IAGP
EXP
ClinVar Annotator: match by term: TARP syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 More... NCBI chr  X:47,145,221...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
EXP
DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tarsal carpal coalition syndrome
ClinVar
CTD
OMIM
RGD
PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 More... RGD:12801450 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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 IAGP ClinVar Annotator: match by term: Brachycephalofrontonasal dysplasia
ClinVar Annotator: match by term: Teebi hypertelorism syndrome
ClinVar Annotator: match by term: Hypertelorism, Teebi type
ClinVar PMID:17506099 PMID:25412741 PMID:25741868 PMID:25741869 PMID:26111080 More... NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
JBrowse link
G SPECC1L-ADORA2A SPECC1L-ADORA2A readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Brachycephalofrontonasal dysplasia
ClinVar Annotator: match by term: Teebi hypertelorism syndrome
ClinVar Annotator: match by term: Hypertelorism, Teebi type
ClinVar PMID:17506099 PMID:25412741 PMID:25741868 PMID:25741869 PMID:26111080 More... NCBI chr22:24,270,817...24,442,360
Ensembl chr22:24,270,898...24,442,356
JBrowse link
Teebi hypertelorism syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126863207 BRD4-independent group 4 enhancer GRCh37_chrX:10416979-10418178 IAGP ClinVar Annotator: match by term: Opitz-Frias syndrome ClinVar PMID:11030761 PMID:17221865 PMID:23757202 PMID:25741868 PMID:28492532 More... NCBI chr  X:10,448,939...10,450,138 JBrowse link
G MID1 midline 1 IAGP ClinVar Annotator: match by term: Opitz-Frias syndrome ClinVar PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More... NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654
JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP
ISS
EXP
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:145420
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:3228142 PMID:25412741 PMID:25741868 PMID:28492532 PMID:30472488 More... NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
JBrowse link
G SPECC1L-ADORA2A SPECC1L-ADORA2A readthrough (NMD candidate) IAGP 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
ClinVar PMID:3228142 PMID:25412741 PMID:25741868 PMID:28492532 PMID:30472488 More... NCBI chr22:24,270,817...24,442,360
Ensembl chr22:24,270,898...24,442,356
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 IAGP ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 ClinVar
OMIM
PMID:33811546 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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
EXP
ClinVar Annotator: match by term: Terminal osseous dysplasia
ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS
OMIM
ClinVar
CTD
PMID:9536098 PMID:9800904 PMID:10982489 PMID:10982965 PMID:12612583 More... NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G LOC107988032 Xq28 proximal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome ClinVar PMID:25741868 PMID:28492532 PMID:35000503 NCBI chr  X:154,335,912...154,349,572 JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110120802 VISTA enhancer hs919 IAGP ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:28492532 NCBI chr 8:115,418,467...115,420,299 JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP
EXP
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type 3
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:10615131 PMID:11112658 PMID:11807863 PMID:11950061 More... 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 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...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
ClinVar Annotator: match by term: DCHS1-related condition
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
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:28492532 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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 Annotator: match by term: FAT4-related condition
ClinVar
OMIM
PMID:2624276 PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 More... NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      musculoskeletal system disease 11573
        Foot Deformities 221
          Congenital Foot Deformities + 219
          Foot Deformities, Acquired + 50
          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