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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:distal arthrogryposis type 1
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Accession:DOID:0111596 term browser browse the term
Definition:A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies. (DO)
Synonyms:exact_synonym: AMCD1;   DA1;   digitotalar dysmorphism;   distal arthrogryposis multiplex congenita, type 1;   distal arthrogryposis multiplex congenita, type I;   hereditary ulnar drift
 primary_id: MESH:C535378
 alt_id: DOID:9001339;   MESH:C565097;   OMIM:126050
 xref: GARD:787;   ORDO:1146


show annotations for term's descendants           Sort by:
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 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:30777867 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 NCBI chr 5:34,696,377...34,725,515
Ensembl chr 5:34,696,371...34,723,574 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:11738357 PMID:17339586 PMID:17846275 PMID:18414213 PMID:18420702 More... NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923 		JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,111,003...50,155,937
Ensembl chr11:50,113,073...50,132,284 		JBrowse link
G AQP3 aquaporin 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,517,509...50,524,565 JBrowse link
G AQP7 aquaporin 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,474,007...50,488,191 JBrowse link
G ARHGEF39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,191,170...52,200,769
Ensembl chr11:52,196,462...52,200,778 		JBrowse link
G ARID3C AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,294,605...51,301,979
Ensembl chr11:51,295,030...51,301,547 		JBrowse link
G ATOSB atos homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,680,308...51,692,340
Ensembl chr11:51,681,329...51,683,969 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,223,880...50,276,745
Ensembl chr11:50,226,242...50,276,730 		JBrowse link
G BAG1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581 		JBrowse link
G CA9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267 		JBrowse link
G CCDC107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,194,412...52,196,817
Ensembl chr11:52,194,293...52,196,815 		JBrowse link
G CCIN calicin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,637,580...52,640,121 JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,357,706...51,359,207
Ensembl chr11:51,340,530...51,359,365 		JBrowse link
G CCL21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,375,107...51,375,790 JBrowse link
G CCL27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,334,870...51,338,752
Ensembl chr11:51,334,778...51,335,591 		JBrowse link
G CD72 CD72 molecule ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,170,893...52,179,035
Ensembl chr11:52,170,893...52,178,301 		JBrowse link
G CHMP5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,363,488...50,376,081 JBrowse link
G CIMIP2B ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,144,806...52,164,782
Ensembl chr11:52,144,801...52,146,823 		JBrowse link
G CLTA clathrin light chain A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,636,328...52,681,258
Ensembl chr11:52,615,039...52,681,270 		JBrowse link
G CNTFR ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,226,951...51,266,431
Ensembl chr11:51,227,509...51,245,188 		JBrowse link
G CNTNAP1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 NCBI chr 9:20,293,184...20,307,708
Ensembl chr 9:20,293,170...20,307,662 		JBrowse link
G CREB3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,260,340...52,265,085
Ensembl chr11:52,260,420...52,266,515 		JBrowse link
G DCAF12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,843,818...50,878,833
Ensembl chr11:50,845,773...50,878,838 		JBrowse link
G DCTN3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,287,966...51,294,049
Ensembl chr11:51,287,967...51,294,051 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,080,080...51,205,381
Ensembl chr11:51,106,370...51,237,467 		JBrowse link
G DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,156,089...50,168,379
Ensembl chr11:50,156,089...50,167,536 		JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,587,728...51,596,911
Ensembl chr11:51,587,295...51,595,839 		JBrowse link
G ENHO energy homeostasis associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,205,439...51,207,447 JBrowse link
G EXOSC3 exosome component 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:54,072,993...54,079,024
Ensembl chr11:54,073,313...54,078,598 		JBrowse link
G FAM205A family with sequence similarity 205 member A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,429,911...51,436,517
Ensembl chr11:51,430,091...51,435,019 		JBrowse link
G FAM219A family with sequence similarity 219 member A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,092,364...51,144,324
Ensembl chr11:51,092,470...51,144,168 		JBrowse link
G FAM221B family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,348,496...52,351,671
Ensembl chr11:52,348,231...52,356,719 		JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751 		JBrowse link
G FBXO10 F-box protein 10 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,833,335...53,885,416
Ensembl chr11:53,835,003...53,896,930 		JBrowse link
G FRMPD1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,901,625...54,051,885
Ensembl chr11:53,939,807...54,051,756 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,319,812...51,323,337
Ensembl chr11:51,319,347...51,334,802 		JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,264,959...52,277,298
Ensembl chr11:52,265,070...52,277,213 		JBrowse link
G GLIPR2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,622,460...52,634,602
Ensembl chr11:52,615,039...52,681,270 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,688,295...52,731,160
Ensembl chr11:52,689,343...52,731,231 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,748,389...53,759,692
Ensembl chr11:53,748,414...53,759,693 		JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,342,564...52,344,994
Ensembl chr11:52,342,567...52,344,947 		JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,420,070...52,421,097
Ensembl chr11:52,420,011...52,420,629 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,324,915...51,341,981 JBrowse link
G KIF24 kinesin family member 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,974,376...51,049,862
Ensembl chr11:50,976,627...51,022,382 		JBrowse link
G MELK maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,970,699...53,067,169
Ensembl chr11:52,977,260...53,067,172 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:30777867 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
G MSMP microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,280,528...52,281,559
Ensembl chr11:52,280,528...52,281,541 		JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr 5:34,914,797...34,938,263
Ensembl chr 5:34,914,918...34,936,617 		JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr 5:34,696,377...34,725,515
Ensembl chr 5:34,696,371...34,723,574 		JBrowse link
G MYORG myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,070,088...51,077,595
Ensembl chr11:51,071,707...51,073,851 		JBrowse link
G NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:49,821,998...49,833,624
Ensembl chr22:3,526,115...3,526,501 		JBrowse link
G NFX1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,387,368...50,462,978
Ensembl chr11:50,387,883...50,462,428 		JBrowse link
G NOL6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,533,150...50,544,770
Ensembl chr11:50,533,453...50,545,094 		JBrowse link
G NPR2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,283,680...52,339,247
Ensembl chr11:52,321,590...52,339,249 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178 		JBrowse link
G OR13C11B olfactory receptor family 13 subfamily C member 11B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,449,404...52,450,363 JBrowse link
G OR13J1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,399,129...52,400,349
Ensembl chr11:52,399,129...52,400,067 		JBrowse link
G PAX5 paired box 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,194,905...53,390,204
Ensembl chr11:53,201,344...53,390,974 		JBrowse link
G PHF24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,552,345...51,580,762
Ensembl chr11:51,569,770...51,577,059 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,661,954...51,671,169
Ensembl chr11:51,663,577...51,671,178 		JBrowse link
G POLR1E RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,793,324...53,808,725
Ensembl chr11:53,793,042...53,808,724 		JBrowse link
G PRSS2 serine protease 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr16:6,778,109...6,781,404 JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,519,303...52,607,753
Ensembl chr11:52,519,317...52,607,217 		JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,276,151...52,280,482
Ensembl chr11:52,277,189...52,281,639 		JBrowse link
G RIGI RNA sensor RIG-I ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:49,764,252...49,799,626
Ensembl chr11:49,764,267...49,799,527 		JBrowse link
G RNF38 ring finger protein 38 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,764,216...52,827,993
Ensembl chr11:52,764,220...52,901,983 		JBrowse link
G RPP25L ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,284,382...51,286,891 JBrowse link
G RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,074,234...52,144,854
Ensembl chr11:52,120,179...52,144,356 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,310,672...51,313,426
Ensembl chr11:51,311,085...51,313,400 		JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,189,585...52,191,255
Ensembl chr11:52,190,215...52,191,308 		JBrowse link
G SMU1 SMU1 DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,172,679...50,195,719
Ensembl chr11:50,174,153...50,195,644 		JBrowse link
G SPAG8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,339,338...52,341,642
Ensembl chr11:52,339,339...52,341,522 		JBrowse link
G SPATA31G1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,624,571...51,629,189
Ensembl chr11:51,625,604...51,629,131 		JBrowse link
G SPINK4 serine peptidase inhibitor Kazal type 4 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,340,068...50,345,777
Ensembl chr11:50,340,145...50,345,777 		JBrowse link
G SPMIP6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,078,682...51,092,014
Ensembl chr11:51,078,808...51,091,818 		JBrowse link
G STOML2 stomatin like 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,675,963...51,679,313
Ensembl chr11:51,675,963...51,679,199 		JBrowse link
G TESK1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,166,049...52,170,611
Ensembl chr11:52,166,276...52,170,309 		JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,227,286...52,260,112
Ensembl chr11:52,227,611...52,259,915 		JBrowse link
G TMEM215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:49,980,861...49,983,122 JBrowse link
G TMEM8B transmembrane protein 8B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:52,344,566...52,387,049
Ensembl chr11:52,355,933...52,386,466 		JBrowse link
G TOMM5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,896,300...53,901,523
Ensembl chr11:53,896,305...53,901,489 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:49,809,156...49,821,224
Ensembl chr11:49,809,465...49,821,075 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A OMIM
ClinVar		 PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 More... NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923 		JBrowse link
G TRMT10B tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:54,056,251...54,071,870
Ensembl chr11:54,056,312...54,071,692 		JBrowse link
G UBAP1 ubiquitin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,890,090...50,974,901
Ensembl chr11:50,918,939...50,974,159 		JBrowse link
G UBAP2 ubiquitin associated protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,679,601...50,803,455
Ensembl chr11:50,675,525...50,802,940 		JBrowse link
G UBE2R2 ubiquitin conjugating enzyme E2 R2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:50,554,173...50,678,284
Ensembl chr11:50,554,349...50,675,514 		JBrowse link
G UNC13B unc-13 homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,707,968...51,941,148
Ensembl chr11:51,708,302...51,940,955 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714 		JBrowse link
G ZBTB5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,760,510...53,774,864
Ensembl chr11:53,762,839...53,774,921 		JBrowse link
G ZCCHC7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr11:53,434,007...53,686,187
Ensembl chr11:53,438,985...53,685,855 		JBrowse link
distal arthrogryposis type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYBPC1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B OMIM
ClinVar		 PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 More... NCBI chr15:40,504,974...40,590,441
Ensembl chr15:40,504,160...40,613,978 		JBrowse link
distal arthrogryposis type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYL11 myosin light chain 11 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C OMIM
ClinVar		 PMID:25741868 PMID:32707087 NCBI chr 6:17,719,590...17,721,903
Ensembl chr 6:17,719,588...17,725,730 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    physical disorder 4879
      Congenital Foot Deformities 175
        distal arthrogryposis type 1 92
          distal arthrogryposis type 1A 90
          distal arthrogryposis type 1B 1
          distal arthrogryposis type 1C 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      Skin and Connective Tissue Diseases 6797
        connective tissue disease 5278
          bone disease 3825
            bone inflammation disease 1288
              arthropathy 1268
                arthrogryposis multiplex congenita 243
                  distal arthrogryposis 108
                    distal arthrogryposis type 1 92
                      distal arthrogryposis type 1A 90
                      distal arthrogryposis type 1B 1
                      distal arthrogryposis type 1C 1
paths to the root