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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 chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 NCBI chr12:55,135,651...55,166,983
Ensembl chr12:55,134,844...55,167,748 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:11738357 PMID:17339586 PMID:17846275 PMID:18414213 PMID:18420702 More... NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,251...236,410,905 		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 chr10:33,470,089...33,495,584
Ensembl chr10:33,445,148...33,543,710 		JBrowse link
G AQP3 aquaporin 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,045,374...33,050,285
Ensembl chr10:33,045,245...33,051,082 		JBrowse link
G AQP7 aquaporin 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,098,746...33,130,245 JBrowse link
G ARHGEF39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,383,684...236,387,705
Ensembl chr 1:236,383,925...236,387,667 		JBrowse link
G ARID3C AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,171,233...32,187,239
Ensembl chr10:32,172,871...32,180,604 		JBrowse link
G ATOSB atos homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,895,613...235,907,142
Ensembl chr 1:235,895,621...235,907,113 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,317,295...33,381,285
Ensembl chr10:33,317,305...33,381,285 		JBrowse link
G BAG1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,227,530...33,240,731
Ensembl chr10:33,227,338...33,240,724 		JBrowse link
G CA9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822 		JBrowse link
G CCDC107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666 		JBrowse link
G CCIN calicin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,947,871...236,950,447
Ensembl chr 1:236,948,636...236,950,402 		JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734 		JBrowse link
G CCL21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,093,783...32,094,482
Ensembl chr10:32,093,763...32,096,224 		JBrowse link
G CCL27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,138,232...32,138,980
Ensembl chr10:32,138,232...32,138,974 		JBrowse link
G CD72 CD72 molecule ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,345,894...236,355,755
Ensembl chr 1:236,345,903...236,355,702 		JBrowse link
G CHMP5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,212,769...33,227,237
Ensembl chr10:33,211,516...33,227,302 		JBrowse link
G CIMIP2B ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,322,893...236,325,008
Ensembl chr 1:236,322,897...236,324,981 		JBrowse link
G CLTA clathrin light chain A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,971,317...236,993,291
Ensembl chr 1:236,971,505...237,001,731 		JBrowse link
G CNTFR ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,211,809...32,251,412
Ensembl chr10:32,211,777...32,251,503 		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 chr12:20,141,222...20,157,341
Ensembl chr12:20,141,641...20,157,044 		JBrowse link
G CREB3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,450,573...236,456,381
Ensembl chr 1:236,450,573...236,456,375 		JBrowse link
G DCAF12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,673,982...32,714,940
Ensembl chr10:32,674,045...32,714,940 		JBrowse link
G DCTN3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,180,557...32,187,239
Ensembl chr10:32,180,613...32,188,059 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,275,173...32,355,444
Ensembl chr10:32,275,175...32,355,399 		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 chr10:33,432,529...33,445,556
Ensembl chr10:33,432,844...33,445,532 		JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,790,657...235,799,385
Ensembl chr 1:235,790,749...235,799,381 		JBrowse link
G ENHO energy homeostasis associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,273,136...32,275,177
Ensembl chr10:32,273,086...32,275,114 		JBrowse link
G EXOSC3 exosome component 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,536,341...238,541,756
Ensembl chr 1:238,536,345...238,541,333 		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 chr10:32,355,628...32,422,412
Ensembl chr10:32,355,647...32,420,092 		JBrowse link
G FAM221B family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,538,172...236,551,064
Ensembl chr 1:236,539,262...236,547,959 		JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974 		JBrowse link
G FBXO10 F-box protein 10 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,232,855...238,308,661
Ensembl chr 1:238,232,867...238,308,625 		JBrowse link
G FRMPD1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,371,311...238,511,714
Ensembl chr 1:238,371,336...238,511,715 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,151,150...32,154,792
Ensembl chr10:32,151,177...32,154,740 		JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210 		JBrowse link
G GLIPR2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,919,821...236,943,828
Ensembl chr 1:236,919,879...236,943,823 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,139,764...238,151,631
Ensembl chr 1:238,139,794...238,152,382 		JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,532,316...236,535,263 JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,670,418...236,671,435
Ensembl chr 1:236,670,604...236,670,948 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,138,984...32,149,315
Ensembl chr10:32,139,063...32,146,138 		JBrowse link
G KIF24 kinesin family member 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,454,615...32,552,763
Ensembl chr10:32,467,072...32,552,375 		JBrowse link
G LOC100157239 olfactory receptor 13J1-like ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,595,655...236,597,257 JBrowse link
G LOC100519461 olfactory receptor 2S2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,709,468...236,712,100
Ensembl chr 1:236,709,673...236,710,632 		JBrowse link
G MELK maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:237,317,161...237,431,522
Ensembl chr 1:237,317,191...237,431,589 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:30777867 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		JBrowse link
G MSMP microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,472,652...236,473,664
Ensembl chr 1:236,472,424...236,473,862 		JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353 		JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr12:55,135,651...55,166,983
Ensembl chr12:55,134,844...55,167,748 		JBrowse link
G MYORG myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,436,349...32,443,971
Ensembl chr10:32,436,656...32,443,968 		JBrowse link
G NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,849,206...33,865,080
Ensembl chr10:33,802,051...33,865,385 		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 chr10:33,126,460...33,200,819
Ensembl chr10:33,126,607...33,200,680 		JBrowse link
G NOL6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,022,035...33,035,201
Ensembl chr10:33,022,035...33,035,200 		JBrowse link
G NPR2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,508,994...236,529,172
Ensembl chr 1:236,508,998...236,529,128 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,450,986...32,466,893
Ensembl chr10:32,451,064...32,466,839 		JBrowse link
G PAX5 paired box 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:237,574,938...237,785,454
Ensembl chr 1:237,575,061...237,785,413 		JBrowse link
G PHF24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,757,499...235,783,053
Ensembl chr 1:235,757,797...235,783,051 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,880,088...235,888,338
Ensembl chr 1:235,878,355...235,887,993 		JBrowse link
G POLR1E RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,197,659...238,219,475
Ensembl chr 1:238,197,684...238,220,524 		JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,821,243...236,898,280
Ensembl chr 1:236,821,414...236,898,276 		JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,468,115...236,478,347
Ensembl chr 1:236,468,320...236,477,683 		JBrowse link
G RIGI RNA sensor RIG-I ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,891,720...33,976,151
Ensembl chr10:33,891,763...33,933,455 		JBrowse link
G RNF38 ring finger protein 38 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:237,111,002...237,240,311
Ensembl chr 1:237,111,012...237,235,485 		JBrowse link
G RPP25L ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,189,182...32,191,429
Ensembl chr10:32,189,204...32,191,426 		JBrowse link
G RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,265,915...236,322,958
Ensembl chr 1:236,299,344...236,322,953 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,160,767...32,163,540
Ensembl chr10:32,160,822...32,164,718 		JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,371,708...236,373,414
Ensembl chr 1:236,371,699...236,373,419 		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 chr10:33,399,383...33,426,313
Ensembl chr10:33,399,383...33,430,971 		JBrowse link
G SPAG8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,526,659...236,532,181
Ensembl chr 1:236,529,269...236,534,734 		JBrowse link
G SPATA31F3 SPATA31 subfamily F member 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,677,529...235,687,421 JBrowse link
G SPATA31G1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,844,826...235,849,556
Ensembl chr 1:235,842,554...235,848,767 		JBrowse link
G SPINK4 serine peptidase inhibitor Kazal type 4 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,246,260...33,255,617
Ensembl chr10:33,246,247...33,255,688 		JBrowse link
G SPMIP6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,419,965...32,435,622
Ensembl chr10:32,419,795...32,435,884 		JBrowse link
G STOML2 stomatin like 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,891,479...235,894,944
Ensembl chr 1:235,890,679...235,894,737 		JBrowse link
G TESK1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,341,160...236,345,964
Ensembl chr 1:236,341,261...236,345,962 		JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,416,041...236,450,978
Ensembl chr 1:236,416,044...236,450,922 		JBrowse link
G TMEM215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:33,663,263...33,670,510
Ensembl chr10:33,664,793...33,670,295 		JBrowse link
G TMEM8B transmembrane protein 8B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:236,550,759...236,583,635
Ensembl chr 1:236,551,434...236,584,376 		JBrowse link
G TOMM5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,328,894...238,333,066 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 chr10:33,865,967...33,878,135
Ensembl chr10:33,865,959...33,879,070 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A OMIM
ClinVar		 PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 More... NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,251...236,410,905 		JBrowse link
G TRMT10B tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,516,042...238,536,372
Ensembl chr 1:238,516,058...238,537,149 		JBrowse link
G UBAP1 ubiquitin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,552,243...32,626,100
Ensembl chr10:32,552,245...32,626,083 		JBrowse link
G UBAP2 ubiquitin associated protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,755,707...32,897,260
Ensembl chr10:32,756,040...32,892,867 		JBrowse link
G UBE2R2 ubiquitin conjugating enzyme E2 R2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr10:32,894,424...33,014,473
Ensembl chr10:32,894,432...33,014,473 		JBrowse link
G UNC13B unc-13 homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,918,751...236,158,098
Ensembl chr 1:235,918,747...236,158,098 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		JBrowse link
G ZBTB5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:238,153,165...238,179,344
Ensembl chr 1:238,153,168...238,177,461 		JBrowse link
G ZCCHC7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 1:237,820,675...238,068,505
Ensembl chr 1:237,820,363...238,068,305 		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 chr 5:82,557,975...82,651,237
Ensembl chr 5:82,557,609...82,696,126 		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 3:17,938,129...17,941,071
Ensembl chr 3:17,938,129...17,941,268 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    physical disorder 4824
      Congenital Foot Deformities 174
        distal arthrogryposis type 1 91
          distal arthrogryposis type 1A 89
          distal arthrogryposis type 1B 1
          distal arthrogryposis type 1C 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      Skin and Connective Tissue Diseases 6723
        connective tissue disease 5226
          bone disease 3783
            bone inflammation disease 1273
              arthropathy 1255
                arthrogryposis multiplex congenita 237
                  distal arthrogryposis 107
                    distal arthrogryposis type 1 91
                      distal arthrogryposis type 1A 89
                      distal arthrogryposis type 1B 1
                      distal arthrogryposis type 1C 1
paths to the root