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
Accession: DOID:9003938
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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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
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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
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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 PMID:24239177 PMID:25741868 PMID:28492532 More...
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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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 PMID:31283647 More...
NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733
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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
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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 PMID:20301294 PMID:20576601 PMID:21911500 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:23483595 PMID:24100174 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24793181 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25326637 PMID:25447930 PMID:25523819 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26993267 PMID:27268479 PMID:27634470 PMID:27726050 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28647130 PMID:28708303 PMID:28849312 PMID:28901192 PMID:29066118 PMID:29305691 PMID:29397530 PMID:30071271 PMID:30577886 PMID:30657467 PMID:31361359 PMID:31737037 PMID:32581362 PMID:34008892 PMID:34342181 PMID:34459253 PMID:35047275 PMID:36192182 PMID:24468074 More...
RGD:11576280
NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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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
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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 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 More...
NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
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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
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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
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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
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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 PMID:28492532 More...
NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
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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
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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
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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
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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 PMID:23652419 PMID:24005482 PMID:24407472 PMID:24566671 PMID:25525159 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33977142 PMID:34426522 PMID:35379322 More...
NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808
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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
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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
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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
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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
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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
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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
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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
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INPP5E
inositol polyphosphate-5-phosphatase E
IAGP
ClinVar Annotator: match by term: Clubfoot
ClinVar
PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 PMID:28492532 PMID:29186038 PMID:33749171 PMID:34188062 More...
NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
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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
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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
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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
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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
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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
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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
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RET
ret proto-oncogene
ISS
OMIM:119800
MouseDO
NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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RYR1
ryanodine receptor 1
IAGP
ClinVar Annotator: match by term: Talipes equinovarus
ClinVar
PMID:18253 PMID:7299413 PMID:16380615 PMID:17033962 PMID:17365175 PMID:17483490 PMID:18253926 PMID:21911697 PMID:25741868 PMID:28492532 PMID:30611313 More...
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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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
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TNFRSF13B
TNF receptor superfamily member 13B
IAGP
ClinVar Annotator: match by term: Talipes equinovarus
ClinVar
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30665703 PMID:30723478 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33258288 More...
NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
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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 PMID:24319099 PMID:24789864 PMID:25741868 PMID:28492532 More...
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:18789687 PMID:19155175 PMID:20301436 PMID:22084935 PMID:22832343 PMID:23401156 PMID:23689010 PMID:23886664 PMID:24033266 PMID:24039757 PMID:24657080 PMID:24692096 PMID:25741868 PMID:25978979 PMID:26467025 PMID:26708479 PMID:27726070 PMID:27854218 PMID:28492532 PMID:30545627 More...
NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:17194691 PMID:17339586 PMID:17576681 PMID:17846275 PMID:18414213 PMID:18420702 PMID:18422639 PMID:18789687 PMID:19047562 PMID:19155175 PMID:20301436 PMID:22084935 PMID:22749895 PMID:22832343 PMID:22980765 PMID:23401156 PMID:23678273 PMID:23689010 PMID:23757202 PMID:23886664 PMID:24033266 PMID:24039757 PMID:24214167 PMID:24657080 PMID:24692096 PMID:25741868 PMID:25978979 PMID:26467025 PMID:26708479 PMID:26752647 PMID:27726070 PMID:27854218 PMID:28492532 PMID:30545627 PMID:31966463 PMID:32092148 PMID:33060286 More...
NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
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
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
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
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
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
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
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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
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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
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LOC105369937
uncharacterized LOC105369937
IAGP
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B
ClinVar
PMID:28492532
NCBI chr12:101,646,720...101,650,871
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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 PMID:25741868 PMID:26287277 PMID:28492532 More...
NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028
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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
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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
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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 PMID:27714920 PMID:27843126 PMID:28492532 PMID:30285720 PMID:31680123 More...
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
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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
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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
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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 PMID:10839977 PMID:10936828 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12838557 PMID:12939657 PMID:16691622 PMID:16740912 PMID:17041931 PMID:17431922 PMID:17576681 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:21078104 PMID:21204238 PMID:21211247 PMID:21652629 PMID:22607287 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24309930 PMID:24734328 PMID:25741868 PMID:25983622 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:30655312 PMID:31050217 PMID:10535733 PMID:26470833 PMID:12161593 PMID:11903230 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
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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
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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 PMID:15525660 More...
RGD:12910707
NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
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CPT2
carnitine palmitoyltransferase 2
IAGP
ClinVar Annotator: match by term: flatfoot
ClinVar
PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 PMID:15642848 PMID:16615913 PMID:18550408 PMID:18925671 PMID:24398345 PMID:24602495 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34063237 More...
NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
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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
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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
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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
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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
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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
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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
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DPYD
dihydropyrimidine dehydrogenase
IAGP
ClinVar Annotator: match by term: Hallux valgus
ClinVar
PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9472650 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19530960 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:28950804 PMID:29065426 PMID:29134491 PMID:29152729 PMID:29998006 PMID:30114658 PMID:30348537 PMID:30485432 PMID:30723313 PMID:30775324 PMID:30898145 PMID:31382864 PMID:31745289 More...
NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
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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
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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 PMID:10839976 PMID:12073020 PMID:12414828 PMID:17935235 PMID:24239177 PMID:25741868 PMID:9020844 More...
RGD:1599526
NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
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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
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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 PMID:12414828 PMID:17935235 PMID:25741868 More...
NCBI chr 7:27,198,443...27,202,743
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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
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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 PMID:14564217 PMID:14613973 PMID:16957473 PMID:18034870 PMID:23812909 PMID:24127277 PMID:24497711 PMID:25251565 PMID:25741868 PMID:26942290 PMID:28492532 PMID:31837199 More...
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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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 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8528214 PMID:8644708 PMID:8651276 PMID:8957519 PMID:9002682 PMID:9385368 PMID:9462761 PMID:9586546 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10541159 PMID:10633130 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11556600 PMID:12124745 PMID:12884424 PMID:12884434 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18552176 PMID:19066959 PMID:20301628 PMID:20489451 PMID:21367659 PMID:22238366 PMID:22664175 PMID:22665975 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25741868 PMID:25759925 PMID:25867380 PMID:26362256 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27481450 PMID:28492532 PMID:31145570 PMID:7874170 More...
RGD:12801470
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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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
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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
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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
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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
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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
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LOC109461476
GDF5 promoter region
IAGP
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
ClinVar
NCBI chr20:35,437,929...35,438,683
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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 PMID:16532400 PMID:17609215 PMID:20503332 PMID:25741868 PMID:10080184 PMID:16151340 More...
RGD:1600234 , RGD:12801467
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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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
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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
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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
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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
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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 PMID:22426308 PMID:22822383 PMID:23752187 PMID:23929686 PMID:25169058 PMID:25169753 PMID:25326635 PMID:25326637 PMID:25741868 PMID:27099726 PMID:27399259 PMID:27479843 PMID:27665729 PMID:28333917 PMID:28424519 PMID:28492532 PMID:28824374 PMID:30459321 PMID:31785789 PMID:32694869 PMID:35887114 More...
NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
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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 PMID:10331943 PMID:11470490 PMID:12457340 PMID:14729836 PMID:15108203 PMID:15192806 PMID:15551259 PMID:15637728 PMID:15879313 PMID:16155213 PMID:16211004 PMID:16378922 PMID:16531323 PMID:16709485 PMID:17256797 PMID:17420259 PMID:17509830 PMID:17687502 PMID:17901047 PMID:18003637 PMID:18077386 PMID:18079109 PMID:18660473 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19638688 PMID:19725242 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23550541 PMID:24115525 PMID:25327171 PMID:25388818 PMID:25741868 PMID:27226478 PMID:28492532 PMID:30628995 PMID:32318302 PMID:33080786 PMID:34630166 PMID:35023121 PMID:16155213 PMID:18003637 PMID:16219735 PMID:15637728 PMID:12457340 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
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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 PMID:14974090 PMID:14981729 PMID:15108203 PMID:15192806 PMID:15757815 PMID:15879313 PMID:16378922 PMID:16531323 PMID:16709485 PMID:16813608 PMID:16816024 PMID:17509830 PMID:17901047 PMID:18003637 PMID:18079109 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19615768 PMID:19638688 PMID:20130915 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23606748 PMID:23951358 PMID:24115525 PMID:24508941 PMID:25327171 PMID:25388818 PMID:25398053 PMID:25741868 PMID:26004348 PMID:26537360 PMID:27216975 PMID:27226478 PMID:28258662 PMID:28492532 PMID:29927410 PMID:30628963 PMID:30628995 PMID:30631135 PMID:30653986 PMID:30811667 PMID:31347275 PMID:32318302 PMID:32449269 PMID:34630166 More...
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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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
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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
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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 PMID:18178630 PMID:18417549 PMID:18463159 PMID:19519794 PMID:20569257 PMID:22340503 PMID:24777739 PMID:28492532 PMID:29651423 PMID:32169219 More...
NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
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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
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
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
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
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
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
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
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
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
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
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 PMID:18178630 PMID:18417549 PMID:18463159 PMID:19519794 PMID:20569257 PMID:22340503 PMID:24777739 PMID:28492532 PMID:29651423 PMID:32169219 More...
NCBI chr 7:156,790,708...156,793,079
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 PMID:19519794 PMID:20569257 PMID:22340503 PMID:24777739 PMID:28492532 PMID:29651423 PMID:32169219 More...
NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
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
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
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 PMID:19519794 PMID:20569257 PMID:22340503 PMID:24777739 PMID:28492532 PMID:29651423 PMID:32169219 More...
NCBI chr 7:156,790,708...156,793,079
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
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
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
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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
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
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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
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
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
G
MPZ
myelin protein zero
IAGP
ClinVar Annotator: match by term: Pes cavus
ClinVar
PMID:7688964 PMID:8644725 PMID:8797476 PMID:10545037 PMID:10581375 PMID:10737979 PMID:11437164 PMID:12221176 PMID:12477701 PMID:20215982 PMID:20461396 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29136549 PMID:29687021 PMID:31211173 PMID:31372974 More...
NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968
G
NEFL
neurofilament light chain
IAGP
ClinVar Annotator: match by term: Pes cavus
ClinVar
PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 PMID:19286384 PMID:20421365 PMID:21168446 PMID:21493625 PMID:23230147 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28501821 PMID:31211173 PMID:31574566 More...
NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
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
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
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 PMID:28492532 PMID:30462380 PMID:32812661 More...
NCBI chr X:47,145,221...47,186,813
Ensembl chr X:47,145,221...47,186,813
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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 PMID:17668388 PMID:25741868 PMID:28492532 PMID:29159868 PMID:26211601 More...
RGD:12801450
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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 PMID:28492532 PMID:30472488 PMID:31953237 More...
NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
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 PMID:28492532 PMID:30472488 PMID:31953237 More...
NCBI chr22:24,270,817...24,442,360
Ensembl chr22:24,270,898...24,442,356
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 PMID:32926417 More...
NCBI chr X:10,448,939...10,450,138
G
MID1
midline 1
IAGP
ClinVar Annotator: match by term: Opitz-Frias syndrome
ClinVar
PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 PMID:17221865 PMID:18360914 PMID:18949047 PMID:20671548 PMID:21326312 PMID:23757202 PMID:25207814 PMID:25304119 PMID:25741868 PMID:25874572 PMID:27749392 PMID:28492532 PMID:29456483 PMID:32926417 More...
NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654
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 PMID:31953237 PMID:32954677 More...
NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
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 PMID:31953237 PMID:32954677 More...
NCBI chr22:24,270,817...24,442,360
Ensembl chr22:24,270,898...24,442,356
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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
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 PMID:15864382 PMID:16417552 PMID:16822260 PMID:17152064 PMID:17576681 PMID:18414213 PMID:20301567 PMID:20598277 PMID:22522697 PMID:25614868 PMID:25741868 PMID:26059211 PMID:26061098 PMID:26467025 PMID:28492532 PMID:30561107 PMID:30986657 PMID:31919883 PMID:35000503 More...
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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
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
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 PMID:14560312 PMID:15367484 PMID:16199547 PMID:17576681 PMID:17854380 PMID:18946009 PMID:19694891 PMID:20394624 PMID:21850686 PMID:22964620 PMID:23293878 PMID:23451857 PMID:23572024 PMID:23621477 PMID:23691375 PMID:24357341 PMID:24502542 PMID:24945424 PMID:25741868 PMID:25792522 PMID:26113321 PMID:27826100 PMID:28050602 PMID:28170084 PMID:28244134 PMID:28468609 PMID:28492532 PMID:29499646 PMID:30143558 PMID:30458885 PMID:30541476 PMID:30914275 PMID:31884116 PMID:32844440 More...
NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
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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
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
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
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
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 PMID:24913602 PMID:25741868 PMID:28492532 PMID:28878612 PMID:30143558 PMID:31384091 More...
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all