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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 1A
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Accession:DOID:0111597 term browser browse the term
Definition:A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3. (DO)
Synonyms:exact_synonym: DA1A
 primary_id: OMIM:108120

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show annotations for term's descendants           Sort by:
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 chrNW_004955472:2,645,716...2,664,394
Ensembl chrNW_004955472:2,652,869...2,664,272 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:2,234,770...2,239,753
Ensembl chrNW_004955472:2,234,770...2,240,027 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:2,283,426...2,297,251 JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:633,474...636,440
Ensembl chrNW_004955472:633,405...640,305 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,503,448...1,510,965
Ensembl chrNW_004955472:1,504,032...1,510,590 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,066,661...1,077,960
Ensembl chrNW_004955472:1,071,615...1,077,960 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:2,490,649...2,536,053
Ensembl chrNW_004955472:2,490,661...2,536,317 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:2,394,317...2,405,199 JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:619,084...625,570
Ensembl chrNW_004955472:619,245...625,051 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:636,633...640,198
Ensembl chrNW_004955472:633,405...640,175 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004958151:6...1,111 JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,444,598...1,446,488
Ensembl chrNW_004955472:1,444,316...1,446,490 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,427,660...1,428,771
Ensembl chrNW_004955472:1,427,710...1,429,102 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,470,407...1,474,800
Ensembl chrNW_004955472:1,471,551...1,474,777 		JBrowse link
G Cd72 CD72 molecule ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:663,451...670,890 JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:695,955...698,086
Ensembl chrNW_004955472:696,157...697,922 		JBrowse link
G Clta clathrin light chain A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:96,958...117,230
Ensembl chrNW_004955472:97,235...117,144 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,540,973...1,577,734
Ensembl chrNW_004955472:1,540,973...1,579,947 		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 chrNW_004955451:16,535,924...16,547,800
Ensembl chrNW_004955451:16,536,416...16,547,213 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:564,227...568,708
Ensembl chrNW_004955472:564,493...568,491 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,943,477...1,974,938
Ensembl chrNW_004955472:1,943,477...1,974,938 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,511,984...1,521,148
Ensembl chrNW_004955472:1,511,937...1,521,494 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,599,265...1,668,214
Ensembl chrNW_004955472:1,599,493...1,668,024 		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 chrNW_004955472:2,604,002...2,618,033
Ensembl chrNW_004955472:2,604,002...2,618,033 		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 chrNW_004955472:1,168,568...1,177,849
Ensembl chrNW_004955472:1,167,160...1,178,726 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,597,488...1,599,274
Ensembl chrNW_004955472:1,503,498...1,599,274 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955419:28,683,896...28,692,006
Ensembl chrNW_004955419:28,683,896...28,693,395 		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 chrNW_004955472:1,668,400...1,718,194
Ensembl chrNW_004955472:1,668,431...1,718,187 		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 chrNW_004955472:489,530...497,224
Ensembl chrNW_004955472:491,251...497,186 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,097,986...1,105,836
Ensembl chrNW_004955472:1,098,839...1,104,911 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955419:28,915,083...28,969,374
Ensembl chrNW_004955419:28,897,288...28,969,374 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955419:28,717,277...28,888,486
Ensembl chrNW_004955419:28,716,494...28,888,495 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,487,173...1,490,548
Ensembl chrNW_004955472:1,487,173...1,490,986 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:553,556...564,411
Ensembl chrNW_004955472:553,556...564,411 		JBrowse link
G Glipr2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:191,886...201,551
Ensembl chrNW_004955472:189,858...201,549 		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 chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955419:29,032,591...29,044,046
Ensembl chrNW_004955419:29,032,600...29,044,257 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:500,845...503,067 JBrowse link
G Il11ra interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,474,802...1,485,352
Ensembl chrNW_004955472:1,475,178...1,482,206 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,774,850...1,868,525
Ensembl chrNW_004955472:1,792,520...1,860,056 		JBrowse link
G LOC102003853 myosin-3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chrNW_004955467:6,561,609...6,583,228
Ensembl chrNW_004955467:6,561,617...6,583,089 		JBrowse link
G LOC102009376 olfactory receptor 13J1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:452,846...454,056
Ensembl chrNW_004955472:452,944...453,879 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955419:29,718,291...29,815,163
Ensembl chrNW_004955419:29,717,978...29,815,170 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:30777867 NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:549,115...550,247
Ensembl chrNW_004955472:549,115...550,247 		JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,735,292...1,740,304
Ensembl chrNW_004955472:1,735,292...1,740,304 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:3,054,026...3,064,530
Ensembl chrNW_004955472:3,054,154...3,064,433 		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 chrNW_004955472:2,306,961...2,371,597
Ensembl chrNW_004955472:2,307,682...2,371,433 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:2,210,490...2,225,275
Ensembl chrNW_004955472:2,211,079...2,224,259 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:506,351...523,647
Ensembl chrNW_004955472:506,351...523,316 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,760,046...1,774,539
Ensembl chrNW_004955472:1,759,900...1,774,539 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955419:29,395,631...29,577,272
Ensembl chrNW_004955419:29,395,389...29,570,952 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,186,021...1,204,018
Ensembl chrNW_004955472:1,185,110...1,204,040 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,084,932...1,094,243
Ensembl chrNW_004955472:1,084,932...1,094,243 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955419:28,970,982...28,983,862
Ensembl chrNW_004955419:28,967,083...28,983,862 		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 chrNW_004955472:222,261...276,869
Ensembl chrNW_004955472:223,683...287,089 		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 chrNW_004955472:550,198...554,038
Ensembl chrNW_004955472:550,198...554,038 		JBrowse link
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:3,093,895...3,135,524
Ensembl chrNW_004955472:3,093,939...3,133,987 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955419:29,903,917...30,063,705
Ensembl chrNW_004955419:29,993,358...30,063,705 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,521,651...1,522,599 JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:698,021...742,966
Ensembl chrNW_004955472:698,513...741,758 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,493,896...1,496,377
Ensembl chrNW_004955472:1,493,896...1,496,377 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:643,923...645,802 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 chrNW_004955472:2,570,248...2,600,551
Ensembl chrNW_004955472:2,570,340...2,600,146 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:503,286...506,261
Ensembl chrNW_004955472:504,087...505,835 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004958072:16...1,146 JBrowse link
G Spink4 serine peptidase inhibitor Kazal type 4 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:2,406,279...2,415,668
Ensembl chrNW_004955472:2,406,279...2,415,668 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,718,474...1,733,980
Ensembl chrNW_004955472:1,718,517...1,735,004 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,079,261...1,082,632
Ensembl chrNW_004955472:1,079,578...1,082,486 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:670,847...676,060
Ensembl chrNW_004955472:668,352...699,620 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:568,939...603,676
Ensembl chrNW_004955472:568,939...603,676 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:2,875,398...2,879,115
Ensembl chrNW_004955472:2,875,398...2,879,115 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:467,027...489,287
Ensembl chrNW_004955472:467,492...488,892 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955419:28,897,328...28,900,289 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 chrNW_004955472:3,073,090...3,076,607 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 chrNW_004955472:611,079...617,823
Ensembl chrNW_004955472:611,028...617,821 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955419:28,693,509...28,720,006
Ensembl chrNW_004955419:28,693,821...28,713,349 		JBrowse link
G Ubap1 ubiquitin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,860,476...1,903,478
Ensembl chrNW_004955472:1,860,476...1,903,478 		JBrowse link
G Ubap2 ubiquitin associated protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:2,044,397...2,100,904
Ensembl chrNW_004955472:2,020,232...2,100,155 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076 		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 chrNW_004955419:29,000,070...29,032,446
Ensembl chrNW_004955419:29,001,265...29,032,446 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004955419:29,108,905...29,339,602
Ensembl chrNW_004955419:29,108,644...29,334,670 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14206
    physical disorder 4611
      Congenital Foot Deformities 166
        distal arthrogryposis type 1 84
          distal arthrogryposis type 1A 82
Path 2
Term Annotations click to browse term
  disease 14206
    disease of anatomical entity 13864
      nervous system disease 12142
        peripheral nervous system disease 3841
          neuropathy 3658
            neuromuscular disease 2855
              muscular disease 2006
                muscle tissue disease 1204
                  distal arthrogryposis 98
                    distal arthrogryposis type 1 84
                      distal arthrogryposis type 1A 82
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