RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | arthropathy |
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Accession: | DOID:381
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browse the term
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Definition: | A bone disease that is located_in the joint. (DO) |
Synonyms: | exact_synonym: | Arthroses; Arthrosis; Infectious arthropathy; Joint Disease; Joint Diseases; arthropathies |
| narrow_synonym: | ankylosis of ankle and foot joint; ankylosis of forearm joint; ankylosis of hand joint; ankylosis of joint of ankle and/or foot; ankylosis of joint of forearm; ankylosis of joint of hand; ankylosis of joint of lower leg; ankylosis of joint of multiple sites; ankylosis of joint of pelvic region and thigh; ankylosis of joint of shoulder region; ankylosis of joint of upper arm; ankylosis of lower leg joint; ankylosis of multiple joints; ankylosis of upper arm joint; joint ankylosis of the ankle and foot; joint ankylosis of the ankle and/or foot; joint ankylosis of the forearm; joint ankylosis of the hand; joint ankylosis of the lower leg; joint ankylosis of the pelvic region and thigh; joint ankylosis of the shoulder region; joint ankylosis of the upper arm; vertebral joint disease |
| primary_id: | MESH:D007592 |
| alt_id: | DOID:9003266 |
| xref: | EFO:0009477; EFO:1000999; ICD10CM:M00-M02; ICD10CM:M12.9; ICD9CM:711; ICD9CM:719.90; NCI:C35760; NCI:C78402 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Ccn6 |
cellular communication network factor 6 |
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ISO |
PPAC, OMIM:208230 |
RGD |
PMID:10471507 |
RGD:1599850 |
NCBI chr20:42,569,309...42,585,126
Ensembl chr20:42,569,309...42,585,126
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Ltf |
lactotransferrin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16640825 |
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NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
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Tbx4 |
T-box transcription factor 4 |
susceptibility |
ISO |
Small Patella Syndrome, OMIM:147891;DNA:missense mutation, nonsense mutation:exon, exon:p.G248V, p.Q62X |
RGD |
PMID:15106123 |
RGD:1601422 |
NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
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Hgf |
hepatocyte growth factor |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:24387171 |
RGD:8548659 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Vegfa |
vascular endothelial growth factor A |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:24387171 |
RGD:8548659 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Ace |
angiotensin I converting enzyme |
susceptibility |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:22876137 |
RGD:7829800 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21122270 |
RGD:5686891 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Ano6 |
anoctamin 6 |
severity |
ISO |
DNA:SNP: :rs17095830(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22138694 PMID:23308121 |
RGD:9684849 |
NCBI chr 7:126,933,629...127,113,589
Ensembl chr 7:126,933,936...127,113,589
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Antxr2 |
ANTXR cell adhesion molecule 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062062 PMID:21743469 |
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NCBI chr14:11,542,266...11,682,112
Ensembl chr14:11,541,772...11,682,094
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Aspn |
asporin |
susceptibility |
ISO |
DNA:repeats:exon: |
RGD |
PMID:20144272 |
RGD:9684964 |
NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
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Card9 |
caspase recruitment domain family, member 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
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NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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Crp |
C-reactive protein |
disease_progression |
ISO |
protein:increased expression:serum: |
RGD |
PMID:22422197 PMID:6605119 |
RGD:6482308, RGD:9491788 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
DNA:polymorphism: :4887C>A (human) |
RGD |
PMID:12880680 |
RGD:1581252 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Erap1 |
endoplasmic reticulum aminopeptidase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 |
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NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
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Fcgr3a |
Fc gamma receptor 3A |
severity |
ISO |
protein:decreased expression:polymorphonuclear leucocyte |
RGD |
PMID:8453794 |
RGD:5508388 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Igfbp3 |
insulin-like growth factor binding protein 3 |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:9851264 |
RGD:10402573 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Il12b |
interleukin 12B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
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NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
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Il17a |
interleukin 17A |
treatment |
ISO |
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RGD |
PMID:24035250 |
RGD:9068448 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1r2 |
interleukin 1 receptor type 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062062 |
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NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725
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Il23r |
interleukin 23 receptor |
no_association |
ISO |
DNA:SNPs,haplotype:multiple: CTD Direct Evidence: marker/mechanism DNA:SNP: :rs11209026(human) |
CTD RGD |
PMID:17952073 PMID:20062062 PMID:19522770 PMID:19877036 |
RGD:8549549, RGD:8549630 |
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il6 |
interleukin 6 |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:26339141 |
RGD:12792209 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irak1 |
interleukin-1 receptor-associated kinase 1 |
susceptibility |
ISO |
DNA:SNP:enhancer: (rs3027898) (human) |
RGD |
PMID:20500689 |
RGD:7495783 |
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Jak2 |
Janus kinase 2 |
susceptibility |
ISO |
DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) |
RGD |
PMID:20627814 |
RGD:6483025 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kdm5a |
lysine demethylase 5A |
susceptibility |
ISO |
DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) |
RGD |
PMID:24069348 |
RGD:9588532 |
NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
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Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:SNP:cds:677C>T (human) |
RGD |
PMID:25060515 |
RGD:42722610 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Pgf |
placental growth factor |
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ISO |
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RGD |
PMID:21873332 |
RGD:6483576 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Psmb9 |
proteasome 20S subunit beta 9 |
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ISO |
DNA: snp: rs17587 |
RGD |
PMID:22034108 |
RGD:6483349 |
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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Ptger4 |
prostaglandin E receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21743469 PMID:21743469 |
RGD:6483530 |
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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RT1-Ba |
RT1 class II, locus Ba |
severity |
ISO |
DNA:polymorphism:cds:HLA-DQA1*0401 (human) |
RGD |
PMID:19565552 |
RGD:5147611 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb |
RT1 class II, locus Bb |
severity |
ISO |
DNA:polymorphism:cds:HLA-DQB1*0603 (human) |
RGD |
PMID:19565552 |
RGD:5147611 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-CE13 |
RT1 class I, locus CE13 |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) |
RGD |
PMID:8733445 |
RGD:7364914 |
NCBI chr20:3,314,984...3,318,037
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RT1-Db1 |
RT1 class II, locus Db1 |
severity |
ISO |
DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) |
RGD |
PMID:19565552 |
RGD:5147611 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-M5 |
RT1 class Ib, locus M5 |
no_association |
ISO |
DNA:polymorphisms:cds:HLA-B2705 (human) |
RGD |
PMID:21927904 |
RGD:10755579 |
NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775
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Runx3 |
RUNX family transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
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NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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Tap1 |
transporter 1, ATP binding cassette subfamily B member |
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ISO |
DNA:SNPs: : |
RGD |
PMID:19480848 |
RGD:6482250 |
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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Tap2 |
transporter 2, ATP binding cassette subfamily B member |
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ISO |
DNA:SNPs: : |
RGD |
PMID:19480848 |
RGD:6482250 |
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Tbkbp1 |
TBK1 binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
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NCBI chr10:82,120,558...82,135,749
Ensembl chr10:82,120,564...82,134,352
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Thbd |
thrombomodulin |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21556780 |
RGD:5684983 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tlr4 |
toll-like receptor 4 |
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ISO |
mRNA:increased expression:blood cell: |
RGD |
PMID:20952467 |
RGD:7794744 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr5 |
toll-like receptor 5 |
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ISO |
mRNA:increased expression:blood cell: |
RGD |
PMID:20952467 |
RGD:7794744 |
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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Tnfrsf1b |
TNF receptor superfamily member 1B |
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ISO |
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RGD |
PMID:21317434 |
RGD:5131280 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Vip |
vasoactive intestinal peptide |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:20340024 |
RGD:5685387 |
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9605588 |
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Ager |
advanced glycosylation end product-specific receptor |
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IEP |
associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) |
RGD |
PMID:23497312 |
RGD:7244260 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt |
angiotensinogen |
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IDA |
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RGD |
PMID:23291307 |
RGD:8549476 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Atp5f1d |
ATP synthase F1 subunit delta |
treatment |
IEP |
associated with Hypercholesterolemia |
RGD |
PMID:26047104 |
RGD:11057945 |
NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
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Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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ISO |
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RGD |
PMID:15625282 |
RGD:13204716 |
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Sod1 |
superoxide dismutase 1 |
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IEP |
associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta |
RGD |
PMID:25430697 |
RGD:11038653 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2 |
superoxide dismutase 2 |
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IEP |
associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta |
RGD |
PMID:25430697 |
RGD:11038653 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Vkorc1 |
vitamin K epoxide reductase complex, subunit 1 |
susceptibility |
IAGP |
DNA:missense mutation: :p.Y139C (416A>G) (rat) |
RGD |
PMID:19884975 |
RGD:2315841 |
NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
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Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20190753 |
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NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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Vps33b |
VPS33B, late endosome and lysosome associated |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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Acta2 |
actin alpha 2, smooth muscle |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:25741868 |
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NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
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ISO |
DNA:missense mutation:CDS:p.D203A (human) |
RGD |
PMID:22943132 |
RGD:42722010 |
NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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Emilin1 |
elastin microfibril interfacer 1 |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:28492532 |
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NCBI chr 6:25,455,974...25,463,736
Ensembl chr 6:25,445,298...25,463,698
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Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Mus81 |
MUS81 structure-specific endonuclease subunit |
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ISS |
OMIM:208050 |
MouseDO |
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NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843
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Slc2a10 |
solute carrier family 2 member 10 |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity syndrome |
OMIM ClinVar |
PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 PMID:17163528 PMID:17576681 PMID:17935213 PMID:18565096 PMID:18774132 PMID:18818946 PMID:19028722 PMID:19622975 PMID:19781076 PMID:22488877 PMID:23142374 PMID:23410549 PMID:23494979 PMID:24033266 PMID:25326637 PMID:25373504 PMID:25741868 PMID:25944730 PMID:28492532 PMID:28726533 PMID:29323665 PMID:29543232 PMID:29907982 PMID:30090112 PMID:30425910 PMID:33144682 PMID:34668355 More...
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NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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Csf3 |
colony stimulating factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7543699 |
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NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Mvk |
mevalonate kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10369261 |
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NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
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Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Arthralgia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30311386 |
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NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Wnt10a |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: Arthralgias |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Ankh |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
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RGD |
PMID:10894769 |
RGD:734569 |
NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187
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B2m |
beta-2 microglobulin |
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ISO |
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RGD |
PMID:16575857 |
RGD:6482692 |
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Cd40 |
CD40 molecule |
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ISO |
associated with Lupus Erythematosus, Systemic;DNA:SNP: :rs73115010, rs6074028 (human) |
RGD |
PMID:23256180 |
RGD:7248721 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd69 |
Cd69 molecule |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12882836 |
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NCBI chr 4:162,725,446...162,733,364
Ensembl chr 4:162,725,446...162,733,542
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Cnr2 |
cannabinoid receptor 2 |
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IMP |
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RGD |
PMID:18075852 |
RGD:2316223 |
NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
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G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17299831 PMID:24144632 PMID:26640276 |
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NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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G |
Copa |
COPI coat complex subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25894502 |
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NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874
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G |
Cpt2 |
carnitine palmitoyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Arthritis |
ClinVar |
PMID:7711730 PMID:9600456 PMID:10090476 PMID:12410208 PMID:12707442 PMID:15622536 PMID:16996287 PMID:17936304 PMID:20301431 PMID:22975760 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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G |
Fcgr3a |
Fc gamma receptor 3A |
susceptibility |
ISO |
associated with Behcet Syndrome; DNA:SNP:exon:p.F158V (rs396991)(human) DNA:SNP:exon:F158V (rs396991)(human) |
RGD |
PMID:19026120 PMID:19005160 |
RGD:5508432, RGD:5508443 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Gc |
GC, vitamin D binding protein |
susceptibility |
ISO |
associated with Spondylitis, Ankylosing;DNA:SNPs: :rs222016, rs222020,rs3733359(human) |
RGD |
PMID:21844150 |
RGD:5509918 |
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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G |
Hp |
haptoglobin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Il23r |
interleukin 23 receptor |
susceptibility |
ISO |
associated with Psoriasis;DNA:haplotype::rs7530511, rs11209026(human) |
RGD |
PMID:19035472 |
RGD:8549572 |
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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G |
Irf5 |
interferon regulatory factor 5 |
|
ISO |
|
RGD |
PMID:32743529 |
RGD:40924631 |
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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|
G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
|
ISO |
associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, p.V762A (40329T>C) (human) |
RGD |
PMID:16461442 |
RGD:1601085 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
RT1-Ba |
RT1 class II, locus Ba |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:20472930 |
RGD:5147787 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Bb |
RT1 class II, locus Bb |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:20472930 |
RGD:5147787 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
RT1-CE13 |
RT1 class I, locus CE13 |
|
ISO |
associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:HLA-B*27, HLA-B*35, HLA-B*44 (human) |
RGD |
PMID:10648455 |
RGD:7364930 |
NCBI chr20:3,314,984...3,318,037
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G |
RT1-M5 |
RT1 class Ib, locus M5 |
|
ISO |
associated with Inflammatory Bowel Diseases;DNA:polymorphisms:cds:multiple (human) |
RGD |
PMID:10648455 |
RGD:7364930 |
NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775
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G |
Sele |
selectin E |
|
ISO |
|
RGD |
PMID:16207337 |
RGD:1580041 |
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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G |
Syk |
spleen associated tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33782605 |
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NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410
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G |
Tlr4 |
toll-like receptor 4 |
susceptibility |
ISO |
associated with Behcet Syndrome;DNA:haplotype: : |
RGD |
PMID:19395541 |
RGD:7777177 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Zfp36 |
zinc finger protein 36 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15944294 |
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NCBI chr 1:83,669,084...83,671,564
Ensembl chr 1:83,669,084...83,671,564
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G |
Adgrg6 |
adhesion G protein-coupled receptor G6 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:26004201 PMID:26752647 |
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NCBI chr 1:8,812,889...8,954,239
Ensembl chr 1:8,812,904...8,954,123
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G |
Aven |
apoptosis and caspase activation inhibitor |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634
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G |
Chrng |
cholinergic receptor nicotinic gamma subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16826520 PMID:16826531 |
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NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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G |
Ecel1 |
endothelin converting enzyme-like 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31694722 |
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NCBI chr 9:87,814,434...87,829,154
Ensembl chr 9:87,816,718...87,826,675
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18628313 |
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NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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G |
Ergic1 |
endoplasmic reticulum-golgi intermediate compartment 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28317099 PMID:31230720 |
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NCBI chr10:16,531,192...16,627,183
Ensembl chr10:16,531,194...16,626,957
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G |
Gle1 |
GLE1 RNA export mediator |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
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G |
Kif1b |
kinesin family member 1B |
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ISO |
ClinVar Annotator: match by term: Guérin-Stern syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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G |
Myh8 |
myosin heavy chain 8 |
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ISO |
Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q |
RGD |
PMID:15282353 |
RGD:1600548 |
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome | ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis |
ClinVar |
PMID:20839240 PMID:21911697 PMID:22526018 PMID:23394784 PMID:23826317 PMID:24195946 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:28818389 PMID:30611313 PMID:30652412 PMID:31407473 PMID:31559918 PMID:31680123 PMID:32978841 PMID:34463354 More...
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NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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G |
Ryr3 |
ryanodine receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
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G |
Sh3tc2 |
SH3 domain and tetratricopeptide repeats 2 |
|
ISO |
ClinVar Annotator: match by term: Guérin-Stern syndrome |
ClinVar |
PMID:20220177 PMID:20301641 PMID:21291453 PMID:22950825 PMID:23806086 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26794302 PMID:28492532 More...
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NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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G |
Slc35a3 |
solute carrier family 35 member A3 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:204,620,103...204,659,319
Ensembl chr 2:204,579,174...204,659,319
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G |
Syne1 |
spectrin repeat containing nuclear envelope protein 1 |
|
ISO |
DNA:mutation:splice junction: |
RGD |
PMID:19542096 |
RGD:13209012 |
NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
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G |
Tnni2 |
troponin I2, fast skeletal type |
|
ISO |
distal arthrogryposis type 2B, OMIM:601680 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar RGD |
PMID:25741868 PMID:12592607 |
RGD:1599481 |
NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
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G |
Tnnt3 |
troponin T3, fast skeletal type |
|
ISO |
distal arthrogryposis type 2B, OMIM:601680 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:12865991 |
RGD:1599490 |
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
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G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:11738357 PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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G |
Vps33b |
VPS33B, late endosome and lysosome associated |
|
ISO |
ARC syndrome, OMIM:208085 |
RGD |
PMID:15052268 |
RGD:1599749 |
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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G |
Lgi4 |
leucine-rich repeat LGI family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
OMIM ClinVar |
PMID:25741868 PMID:28318499 PMID:32860008 |
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NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
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G |
Esr1 |
estrogen receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type |
ClinVar |
PMID:25741868 PMID:27782104 |
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NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Syne1 |
spectrin repeat containing nuclear envelope protein 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type |
OMIM ClinVar |
PMID:19542096 PMID:24319099 PMID:24838835 PMID:25741868 PMID:26467025 PMID:27086870 PMID:27178001 PMID:27782104 PMID:28492532 More...
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NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
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G |
Scyl2 |
SCY1 like pseudokinase 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum |
OMIM ClinVar |
PMID:25741868 PMID:31960134 |
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NCBI chr 7:24,064,404...24,117,338
Ensembl chr 7:24,064,404...24,117,305
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G |
Tor1a |
torsin family 1, member A |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5 |
OMIM ClinVar |
PMID:9288096 PMID:11523564 PMID:17503336 PMID:18519876 PMID:18827015 PMID:25741868 PMID:28492532 PMID:28516161 PMID:29053766 PMID:30244176 PMID:34008892 More...
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NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691
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G |
Neb |
nebulin |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 |
OMIM ClinVar |
PMID:9536098 PMID:15221447 PMID:16199547 PMID:17576681 PMID:19232495 PMID:19346529 PMID:21798101 PMID:22183965 PMID:22367672 PMID:23572184 PMID:24033266 PMID:25079567 PMID:25205138 PMID:25205148 PMID:25741868 PMID:25741874 PMID:26403434 PMID:26467025 PMID:26578207 PMID:26841830 PMID:27933661 PMID:28336317 PMID:28492532 PMID:29274205 PMID:32222963 PMID:32721234 PMID:33376055 More...
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NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574
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G |
Rif1 |
replication timing regulatory factor 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617
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G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development |
OMIM ClinVar |
PMID:25741868 PMID:29432562 PMID:30904718 |
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NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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G |
Agl |
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
|
ISO |
ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome |
ClinVar |
PMID:19299494 PMID:24031089 PMID:28328131 PMID:28492532 |
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NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
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G |
Slc35a3 |
solute carrier family 35 member A3 |
|
ISO |
ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19299494 PMID:19763152 PMID:20307669 PMID:22406018 PMID:24031089 PMID:25741868 PMID:28328131 PMID:28492532 PMID:28777481 PMID:33416188 More...
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NCBI chr 2:204,620,103...204,659,319
Ensembl chr 2:204,579,174...204,659,319
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G |
Nek9 |
NIMA-related kinase 9 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy |
OMIM ClinVar |
PMID:25741868 PMID:26633546 PMID:28492532 |
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NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
ClinVar |
PMID:25741868 PMID:31319225 |
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NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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G |
Vps33b |
VPS33B, late endosome and lysosome associated |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
OMIM ClinVar |
PMID:8151641 PMID:11668108 PMID:15052268 PMID:16896922 PMID:17994566 PMID:18853461 PMID:19274792 PMID:21851503 PMID:22753090 PMID:24782640 PMID:24917129 PMID:25741868 PMID:26505894 PMID:28492532 PMID:31479177 More...
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NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 |
OMIM ClinVar |
PMID:20190753 PMID:25741868 PMID:28492532 PMID:31479177 |
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NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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G |
Ackr1 |
atypical chemokine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,782,396...85,786,002
Ensembl chr13:85,782,398...85,783,983
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G |
Adamts4 |
ADAM metallopeptidase with thrombospondin type 1 motif, 4 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065
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G |
Aim2 |
absent in melanoma 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,865,206...85,906,996
Ensembl chr13:85,866,284...85,906,975
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G |
Apcs |
amyloid P component, serum |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,373,338...85,374,134
Ensembl chr13:85,373,220...85,374,298
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G |
Apoa2 |
apolipoprotein A2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
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G |
Arhgap30 |
Rho GTPase activating protein 30 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,822,290...83,843,634
Ensembl chr13:83,822,283...83,854,885
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G |
Atf6 |
activating transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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G |
Atp1a4 |
ATPase Na+/K+ transporting subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687
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G |
B4galt3 |
beta-1,4-galactosyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,691,378...83,697,448
Ensembl chr13:83,691,446...83,697,448
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G |
Cadm3 |
cell adhesion molecule 3 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,786,482...85,817,412
Ensembl chr13:85,786,483...85,817,749
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G |
Casq1 |
calsequestrin 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339
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G |
Cd244 |
CD244 molecule |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,018,887...84,036,612
Ensembl chr13:84,020,095...84,036,100
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G |
Cd48 |
Cd48 molecule |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,184,884...84,209,144
Ensembl chr13:84,185,532...84,209,142
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G |
Cd84 |
CD84 molecule |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,327,580...84,367,153
Ensembl chr13:84,327,553...84,362,076
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G |
Cfap126 |
cilia and flagella associated protein 126 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,526,657...83,542,552
Ensembl chr13:83,526,657...83,542,552
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G |
Cfap45 |
cilia and flagella associated protein 45 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,989,474...85,012,880
Ensembl chr13:84,981,728...85,012,878
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G |
Copa |
COPI coat complex subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894502 PMID:27577878 PMID:28492532 PMID:31905480 More...
|
|
NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874
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G |
Crp |
C-reactive protein |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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|
G |
Dcaf8 |
DDB1 and CUL4 associated factor 8 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726
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G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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G |
Dedd |
death effector domain-containing |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,755,874...83,769,982
Ensembl chr13:83,756,108...83,769,332
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G |
Dusp12 |
dual specificity phosphatase 12 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,122,192...83,131,800
Ensembl chr13:83,122,193...83,131,285
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|
G |
Dusp23 |
dual specificity phosphatase 23 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,098,792...85,099,984
Ensembl chr13:85,097,899...85,100,093
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G |
F11r |
F11 receptor |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402
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G |
Fcer1a |
Fc epsilon receptor Ia |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351
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G |
Fcer1g |
Fc epsilon receptor Ig |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,649,447...83,654,215
Ensembl chr13:83,649,449...83,671,443
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G |
Fcgr2a |
Fc gamma receptor 2A |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fcgr2b |
Fc gamma receptor 2B |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,191,253...83,207,776
Ensembl chr13:83,193,163...83,207,778
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G |
Fcgr3a |
Fc gamma receptor 3A |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Fcrl6 |
Fc receptor-like 6 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,062,709...85,072,308
Ensembl chr13:85,066,694...85,072,600
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G |
Fcrla |
Fc receptor-like A |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,160,453...83,170,170
Ensembl chr13:83,160,398...83,170,762
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G |
Fcrlb |
Fc receptor-like B |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,148,685...83,157,157
Ensembl chr13:83,149,751...83,155,957
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|
G |
Hspa6l-ps1 |
heat shock protein family A (Hsp70) member 6 like, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,271,340...83,275,267
|
|
G |
Igsf8 |
immunoglobulin superfamily, member 8 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,770,348...84,781,534
Ensembl chr13:84,770,279...84,778,576
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G |
Igsf9 |
immunoglobulin superfamily, member 9 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,948,643...84,965,616
Ensembl chr13:84,948,619...84,965,607
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G |
Itln1 |
intelectin 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,932,234...83,958,243
Ensembl chr13:83,948,124...83,958,227
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G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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G |
Kcnj9 |
potassium inwardly-rectifying channel, subfamily J, member 9 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,780,826...84,787,928
Ensembl chr13:84,779,741...84,787,928
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G |
Klhdc9 |
kelch domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,790,269...83,794,080
Ensembl chr13:83,790,269...83,793,354
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|
G |
LOC100361087 |
hypothetical LOC100361087 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,533,538...82,538,676
Ensembl chr13:82,530,577...82,820,949
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G |
Ly9 |
lymphocyte antigen 9 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,081,283...84,100,757
Ensembl chr13:84,079,458...84,100,823
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|
G |
Mnda |
myeloid cell nuclear differentiation antigen |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,017,888...86,035,556
Ensembl chr13:86,017,892...86,034,201
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G |
Mpz |
myelin protein zero |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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|
G |
Ncstn |
nicastrin |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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G |
Ndufs2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
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|
G |
Nectin4 |
nectin cell adhesion molecule 4 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,802,589...83,821,711
Ensembl chr13:83,803,184...83,821,709
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G |
Nhlh1 |
nescient helix loop helix 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,517,347...84,522,548
Ensembl chr13:84,517,289...84,525,094
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|
G |
Nit1 |
nitrilase 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,769,888...83,773,324
Ensembl chr13:83,765,941...83,773,332
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G |
Nos1ap |
nitric oxide synthase 1 adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,549,786...82,820,949
Ensembl chr13:82,530,577...82,820,949
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G |
Nr1i3 |
nuclear receptor subfamily 1, group I, member 3 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906
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G |
Olfml2b |
olfactomedin-like 2B |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,869,414...82,906,607
Ensembl chr13:82,869,433...82,906,607
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G |
Or10j2 |
olfactory receptor family 10 subfamily J member 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,723,330...85,724,262
Ensembl chr13:85,719,234...85,724,767
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G |
Or10j3 |
olfactory receptor family 10 subfamily J member 3 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,667,254...85,668,195
Ensembl chr13:85,662,666...85,669,540
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G |
Or10j5 |
olfactory receptor family 10 subfamily J member 5 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,430,655...85,431,584
Ensembl chr13:85,424,254...85,432,107
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G |
Or6k2 |
olfactory receptor family 6 subfamily K member 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,186,442...86,190,391
Ensembl chr13:86,185,529...86,190,815
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G |
Or6k4 |
olfactory receptor family 6 subfamily K member 14B |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,164,244...86,165,191
Ensembl chr13:86,160,158...86,166,214
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G |
Or6k6 |
olfactory receptor family 6 subfamily K member 6 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,148,402...86,149,325
Ensembl chr13:86,147,303...86,152,153
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G |
Or6n1 |
olfactory receptor family 6 subfamily N member 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,106,912...86,107,850
Ensembl chr13:86,102,080...86,108,363
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G |
Or6n2 |
olfactory receptor family 6 subfamily N member 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,076,857...86,087,100
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G |
Pcp4l1 |
Purkinje cell protein 4-like 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,588,992...83,612,631
Ensembl chr13:83,588,992...83,609,966
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G |
Pea15 |
proliferation and apoptosis adaptor protein 15 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,657,815...84,667,437
Ensembl chr13:84,654,870...84,667,499
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G |
Pex19 |
peroxisomal biogenesis factor 19 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608
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G |
Pfdn2 |
prefoldin subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,772,301...83,791,367
Ensembl chr13:83,753,877...83,790,504
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G |
Pigm |
phosphatidylinositol glycan anchor biosynthesis, class M |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,838,329...84,842,026
Ensembl chr13:84,838,175...84,843,381
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|
G |
Ppox |
protoporphyrinogen oxidase |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
|
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G |
Sdhc |
succinate dehydrogenase complex subunit C |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
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G |
Sh2d1b |
SH2 domain containing 1B |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,485,076...82,519,401
|
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G |
Slamf1 |
signaling lymphocytic activation molecule family member 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,270,316...84,305,497
Ensembl chr13:84,270,316...84,305,497
|
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G |
Slamf6 |
SLAM family member 6 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,384,561...84,405,300
Ensembl chr13:84,383,742...84,405,300
|
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G |
Slamf7 |
SLAM family member 7 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,135,656...84,154,528
Ensembl chr13:84,136,899...84,154,105
|
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G |
Slamf8 |
SLAM family member 8 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,047,729...85,057,571
Ensembl chr13:85,047,727...85,057,211
|
|
G |
Slamf9 |
SLAM family member 9 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,941,896...84,944,749
Ensembl chr13:84,941,982...84,944,748
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G |
Spata46 |
spermatogenesis associated 46 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,541,183...82,544,808
Ensembl chr13:82,541,183...82,544,808
|
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G |
Spta1 |
spectrin, alpha, erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
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G |
Tagln2 |
transgelin 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,966,980...84,973,973
Ensembl chr13:84,967,009...84,973,972
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|
G |
Tomm40l |
translocase of outer mitochondrial membrane 40 like |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,636,692...83,641,854
Ensembl chr13:83,638,195...83,641,654
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|
G |
Tstd1 |
thiosulfate sulfurtransferase like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,853,421...83,854,875
Ensembl chr13:83,822,035...83,854,885
|
|
G |
Uap1 |
UDP-N-acetylglucosamine pyrophosphorylase 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,342,946...82,377,558
Ensembl chr13:82,342,946...82,377,469
|
|
G |
Ufc1 |
ubiquitin-fold modifier conjugating enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,709,330...83,719,762
Ensembl chr13:83,709,330...83,716,076
|
|
G |
Uhmk1 |
U2AF homology motif kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,396,646...82,416,292
Ensembl chr13:82,401,187...82,416,292
|
|
G |
Usf1 |
upstream transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,845,230...83,854,875
Ensembl chr13:83,822,035...83,854,885
|
|
G |
Usp21 |
ubiquitin specific peptidase 21 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,702,582...83,709,215
Ensembl chr13:83,702,631...83,708,717
|
|
G |
Vangl2 |
VANGL planar cell polarity protein 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,462,731...84,489,404
Ensembl chr13:84,465,527...84,489,378
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Vsig8 |
V-set and immunoglobulin domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,023,177...85,031,364
Ensembl chr13:85,023,177...85,031,364
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Nlrp1a |
NLR family, pyrin domain containing 1A |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis |
OMIM ClinVar |
PMID:16918630 PMID:17377159 PMID:24033266 PMID:25741868 PMID:27965258 PMID:28492532 More...
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NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
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Umod |
uromodulin |
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ISO |
ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: Uromodulin-associated kidney disease |
ClinVar OMIM RGD |
PMID:7396593 PMID:10330352 PMID:12205338 PMID:12471200 PMID:12519891 PMID:12629136 PMID:12634862 PMID:14531790 PMID:14569098 PMID:14570709 PMID:15253706 PMID:15589826 PMID:16135773 PMID:16883323 PMID:17010121 PMID:17245395 PMID:19465746 PMID:20172860 PMID:20472742 PMID:21060763 PMID:21868615 PMID:22117067 PMID:22693617 PMID:23748428 PMID:23988501 PMID:24961278 PMID:25741868 PMID:26467025 PMID:27729211 PMID:27795632 PMID:28492532 PMID:28781372 PMID:28990932 PMID:29204651 PMID:29212948 PMID:30099615 PMID:30773290 PMID:31509055 PMID:31822006 PMID:32274456 PMID:32450155 PMID:32926855 PMID:32954071 PMID:33532864 PMID:34519781 PMID:12471200 More...
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RGD:737832 |
NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
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Col12a1 |
collagen type XII alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bethlem myopathy |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
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Col6a1 |
collagen type VI alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Muscular dystrophy, benign congenital | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures |
CTD ClinVar |
PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 PMID:9724608 PMID:10419498 PMID:11707460 PMID:12840783 PMID:15689448 PMID:15955946 PMID:16088929 PMID:16130093 PMID:16199547 PMID:17015493 PMID:17576681 PMID:17886299 PMID:18366090 PMID:18414213 PMID:18825676 PMID:19204719 PMID:19344236 PMID:20301676 PMID:20302629 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22075033 PMID:22789865 PMID:22975586 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24223098 PMID:24271325 PMID:25741868 PMID:25749816 PMID:26467025 PMID:26867126 PMID:27363342 PMID:27708273 PMID:27854213 PMID:27884173 PMID:28182637 PMID:28492532 PMID:29419890 PMID:30564623 More...
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NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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Col6a2 |
collagen type VI alpha 2 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Muscular dystrophy, benign congenital |
CTD ClinVar |
PMID:9536098 PMID:12840783 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17576681 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19309692 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24314752 PMID:24801232 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:29419890 PMID:30564623 PMID:31127727 PMID:34167565 More...
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NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Muscular dystrophy, benign congenital |
CTD ClinVar |
PMID:9536098 PMID:15563506 PMID:15689448 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:20976770 PMID:20981092 PMID:22995991 PMID:23040494 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24332716 PMID:25214167 PMID:25224718 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26467025 PMID:26872670 PMID:27708273 PMID:27854218 PMID:28492532 PMID:28562329 PMID:28688748 PMID:29970176 PMID:30487145 PMID:30564623 PMID:30687093 PMID:30755392 PMID:31265121 PMID:31731261 PMID:32403337 PMID:32448721 PMID:32528171 PMID:33964895 More...
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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Ftcd |
formimidoyltransferase cyclodeaminase |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital |
ClinVar |
PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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Ackr3 |
atypical chemokine receptor 3 |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
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Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:14673707 PMID:25741868 PMID:28492532 |
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NCBI chr X:15,185,353...15,339,977
Ensembl chr X:15,185,451...15,334,264
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Col6a1 |
collagen type VI alpha 1 chain |
susceptibility |
ISO |
Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human) ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar OMIM RGD |
PMID:7551830 PMID:7695699 PMID:7881296 PMID:8218237 PMID:8268929 PMID:8730294 PMID:8782832 PMID:9536098 PMID:9580662 PMID:9724608 PMID:10329467 PMID:10419498 PMID:11707460 PMID:11865138 PMID:11932968 PMID:12840783 PMID:15563506 PMID:15689448 PMID:15955946 PMID:16088929 PMID:16130093 PMID:16199547 PMID:17015493 PMID:17576681 PMID:17785673 PMID:17785674 PMID:17886299 PMID:18366090 PMID:18414213 PMID:18642359 PMID:18825676 PMID:19204719 PMID:19344236 PMID:19564581 PMID:19884007 PMID:20301468 PMID:20301676 PMID:20302629 PMID:20576434 PMID:20882040 PMID:20976770 PMID:20981092 PMID:21280092 PMID:21520333 PMID:22075033 PMID:22789865 PMID:22975586 PMID:23040494 PMID:23326386 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24223098 PMID:24271325 PMID:24801232 PMID:24959844 PMID:25204870 PMID:25535305 PMID:25640679 PMID:25741868 PMID:25749816 PMID:26436962 PMID:26467025 PMID:26867126 PMID:27246988 PMID:27363342 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27854218 PMID:27884173 PMID:28182637 PMID:28424332 PMID:28492532 PMID:28877744 PMID:28984114 PMID:29417091 PMID:29419890 PMID:30564623 PMID:30706156 PMID:30895940 PMID:31130284 PMID:32065942 PMID:32403337 PMID:32528171 PMID:34008892 PMID:34167565 PMID:8782832 More...
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RGD:1600934 |
NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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Col6a2 |
collagen type VI alpha 2 chain |
susceptibility |
ISO |
Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human) ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar OMIM RGD |
PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 PMID:8782832 PMID:9334230 PMID:9536098 PMID:11381124 PMID:11865138 PMID:12218063 PMID:12840783 PMID:15563506 PMID:15689448 PMID:16130093 PMID:16199547 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:18852439 PMID:19309692 PMID:19344236 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20106987 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23170014 PMID:23326386 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24314752 PMID:24801232 PMID:25204870 PMID:25326637 PMID:25380242 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27363342 PMID:27447704 PMID:27453230 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28600779 PMID:28660205 PMID:28688748 PMID:28831785 PMID:29406609 PMID:29419890 PMID:30564623 PMID:31066050 PMID:31127727 PMID:31965297 PMID:32065942 PMID:32403337 PMID:32528171 PMID:32860008 PMID:34167565 PMID:8782832 More...
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RGD:1600934 |
NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
OMIM ClinVar |
PMID:7695699 PMID:8218237 PMID:9536084 PMID:9536098 PMID:11992252 PMID:15563506 PMID:15689448 PMID:16199547 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19344236 PMID:19564581 PMID:20301676 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22995991 PMID:23040494 PMID:23175733 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24332716 PMID:24518369 PMID:25211533 PMID:25214167 PMID:25224718 PMID:25326635 PMID:25380242 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26467025 PMID:26752647 PMID:26872670 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27854218 PMID:28097933 PMID:28492532 PMID:28562329 PMID:28688748 PMID:29419890 PMID:29970176 PMID:30467950 PMID:30564623 PMID:30687093 PMID:30755392 PMID:31265121 PMID:32037012 PMID:32065942 PMID:32403337 PMID:32448721 PMID:32528171 PMID:33964895 More...
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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Cops8 |
COP9 signalosome subunit 8 |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:91,207,427...91,217,258
Ensembl chr 9:91,207,395...91,217,258
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Ftcd |
formimidoyltransferase cyclodeaminase |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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Col12a1 |
collagen type XII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 2 |
OMIM ClinVar |
PMID:24334604 PMID:24334769 PMID:25741868 PMID:28492532 |
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NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
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C16h4orf47 |
similar to human chromosome 4 open reading frame 47 |
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ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type |
ClinVar |
PMID:25741868 |
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NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
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Ufsp2 |
UFM1-specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type |
OMIM ClinVar |
PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 PMID:28892125 More...
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NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
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Nod2 |
nucleotide-binding oligomerization domain containing 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome CTD Direct Evidence: marker/mechanism DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human) DNA:snp:cds:p.E383K (human) DNA:snp:cds:p.E383G (human) DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human) |
OMIM ClinVar CTD RGD |
PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11528384 PMID:11875755 PMID:11910337 PMID:12019468 PMID:12115249 PMID:12512038 PMID:12557156 PMID:12577202 PMID:12626759 PMID:12630966 PMID:12650796 PMID:12673278 PMID:12704363 PMID:14508222 PMID:14522785 PMID:14765395 PMID:15002819 PMID:15024686 PMID:15044951 PMID:15086578 PMID:15190267 PMID:15198989 PMID:15320482 PMID:15459013 PMID:15554080 PMID:15571588 PMID:15712650 PMID:15770725 PMID:15812565 PMID:15967635 PMID:16010583 PMID:16199547 PMID:16278823 PMID:16416181 PMID:16485124 PMID:16669960 PMID:16804397 PMID:17009307 PMID:17069729 PMID:17157607 PMID:17207093 PMID:17301648 PMID:17372104 PMID:17393391 PMID:17489054 PMID:17576681 PMID:17916199 PMID:17941079 PMID:17968944 PMID:18056399 PMID:18240302 PMID:18419343 PMID:18489434 PMID:18507017 PMID:18541930 PMID:18942754 PMID:18955195 PMID:19103559 PMID:19116920 PMID:19184348 PMID:19184350 PMID:19185283 PMID:19349988 PMID:19397946 PMID:19467619 PMID:19479836 PMID:19479837 PMID:19641059 PMID:19713276 PMID:19748964 PMID:20032092 PMID:20039400 PMID:20047977 PMID:20084402 PMID:20199415 PMID:20230816 PMID:20332463 PMID:20713205 PMID:20959815 PMID:21274544 PMID:21335489 PMID:21460759 PMID:21548950 PMID:21565239 PMID:21745302 PMID:21830272 PMID:21914217 PMID:21951874 PMID:21983784 PMID:21994160 PMID:22275320 PMID:22319155 PMID:22344438 PMID:22440928 PMID:22509093 PMID:22543157 PMID:22684479 PMID:22926499 PMID:22939045 PMID:22942351 PMID:23102769 PMID:23128233 PMID:23173613 PMID:23334666 PMID:23615072 PMID:23633568 PMID:23709157 PMID:24033266 PMID:24047397 PMID:24345423 PMID:24391456 PMID:24583628 PMID:24586700 PMID:24597572 PMID:24713464 PMID:24803813 PMID:25093298 PMID:25365249 PMID:25416713 PMID:25429073 PMID:25741868 PMID:26042516 PMID:26070941 PMID:26164256 PMID:26167078 PMID:26316104 PMID:26500656 PMID:26606664 PMID:27306066 PMID:27373512 PMID:28008999 PMID:28166811 PMID:28422189 PMID:28492532 PMID:28639104 PMID:28658209 PMID:28721627 PMID:28750667 PMID:28814775 PMID:29178652 PMID:29248579 PMID:29321258 PMID:29446656 PMID:29697845 PMID:29795570 PMID:29867916 PMID:30166421 PMID:30167848 PMID:30552907 PMID:30553995 PMID:30574935 PMID:32597225 PMID:32716958 PMID:19479837 PMID:15812565 PMID:19116920 PMID:11528384 More...
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RGD:8547518, RGD:8547515, RGD:8158051, RGD:8158040 |
NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Kat6b |
lysine acetyltransferase 6B |
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ISO |
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type |
ClinVar OMIM RGD |
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22715153 PMID:23236640 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:25741872 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28492532 PMID:28758091 PMID:30353918 PMID:32424177 PMID:22077973 More...
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RGD:9588484 |
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome |
ClinVar |
PMID:32694869 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Plod3 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness | ClinVar Annotator: match by term: PLOD3-Related Disorder |
OMIM ClinVar |
PMID:18834968 PMID:25741868 PMID:28492532 |
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NCBI chr12:19,676,384...19,686,945
Ensembl chr12:19,676,386...19,686,960
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Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:23680354 PMID:24082139 PMID:24895405 PMID:25097247 PMID:25564447 PMID:25741868 PMID:28377322 PMID:28484309 PMID:28492532 PMID:29228253 PMID:31107761 PMID:32671420 PMID:33739556 PMID:33747040 PMID:33816482 PMID:34368841 More...
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NCBI chr19:50,282,434...50,324,010
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Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 2 |
OMIM ClinVar |
PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 PMID:33739556 PMID:34008892 More...
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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Fkbp10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
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Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 1 |
ClinVar |
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Fkbp10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 1 |
OMIM ClinVar |
PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 PMID:23712425 PMID:25741868 PMID:26538303 PMID:27509835 PMID:27717089 PMID:27762305 PMID:28492532 PMID:30715774 More...
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NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
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G |
Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 2 |
OMIM ClinVar |
PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 PMID:25238597 PMID:25741868 PMID:28116328 PMID:28492532 PMID:29177700 PMID:29178448 PMID:32655337 More...
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NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
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G |
Prg4 |
proteoglycan 4 |
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ISO |
ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10545950 PMID:25741868 PMID:29397575 PMID:32860008 |
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NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119
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G |
Tpr |
translocated promoter region, nuclear basket protein |
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ISO |
ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
ClinVar |
PMID:29397575 |
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NCBI chr13:62,424,312...62,487,502
Ensembl chr13:62,424,312...62,487,496
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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ISO |
DNA:missense mutations:p.R616W, p.D681N (human) ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 |
ClinVar OMIM RGD |
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:9651581 PMID:11242112 PMID:11335038 PMID:11443545 PMID:11709541 PMID:11710928 PMID:11734544 PMID:12820975 PMID:15494306 PMID:15534626 PMID:16054878 PMID:18510924 PMID:18510925 PMID:18637129 PMID:18709642 PMID:19085937 PMID:19434073 PMID:19470925 PMID:19931493 PMID:19934020 PMID:20633800 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24728327 PMID:25002996 PMID:25431422 PMID:25620205 PMID:25741868 PMID:26344056 PMID:26556299 PMID:26577220 PMID:26884178 PMID:27004399 PMID:27396511 PMID:27504877 PMID:28492532 PMID:29169765 PMID:29478780 PMID:31937902 PMID:32047639 PMID:32830346 PMID:33095795 PMID:11443545 More...
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RGD:1601070 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Klc3 |
kinesin light chain 3 |
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ISO |
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416
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G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 |
OMIM ClinVar |
PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 |
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NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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G |
Polr1g |
RNA polymerase I subunit G |
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ISO |
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33116287 |
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NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766
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G |
Ankh |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
ClinVar Annotator: match by term: Chondrocalcinosis |
ClinVar RGD |
PMID:12297987 |
RGD:734570 |
NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187
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G |
Otulin |
OTU deubiquitinase with linear linkage specificity |
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ISO |
ClinVar Annotator: match by term: Chondrocalcinosis |
ClinVar |
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NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422
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G |
Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8035395 |
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NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Ankh |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
ClinVar Annotator: match by term: Chondrocalcinosis 2 |
OMIM ClinVar |
PMID:2712793 PMID:8528213 PMID:9915952 PMID:11326272 PMID:12297987 PMID:12297989 PMID:13130483 PMID:19449425 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32860008 More...
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NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187
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G |
Otulin |
OTU deubiquitinase with linear linkage specificity |
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ISO |
ClinVar Annotator: match by term: Chondrocalcinosis 2 |
ClinVar |
PMID:2712793 PMID:11326272 PMID:19449425 PMID:25741868 PMID:28492532 |
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NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422
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G |
Bpnt2 |
3'(2'), 5'-bisphosphate nucleotidase 2 |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type |
OMIM ClinVar |
PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:28492532 |
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NCBI chr 5:17,775,684...17,802,570
Ensembl chr 5:17,772,608...17,802,570
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G |
Gle1 |
GLE1 RNA export mediator |
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ISO |
ClinVar Annotator: match by term: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease |
OMIM ClinVar |
PMID:18204449 PMID:24243016 PMID:24961629 PMID:25741868 PMID:27684565 PMID:28492532 PMID:28657126 PMID:28884921 PMID:29899397 More...
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NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
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G |
Fbn2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis |
ClinVar OMIM RGD |
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 PMID:8900230 PMID:9106527 PMID:9199560 PMID:9536098 PMID:9737771 PMID:10797416 PMID:11285249 PMID:11470817 PMID:11754102 PMID:16199547 PMID:16531736 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:20301560 PMID:20799338 PMID:22325249 PMID:22438950 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25326635 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:26257771 PMID:28166811 PMID:28383543 PMID:28492532 PMID:28831199 PMID:29501612 PMID:29907982 PMID:29926239 PMID:30675029 PMID:31096651 PMID:31316167 PMID:32277046 PMID:32534992 PMID:32702406 PMID:33435129 PMID:33571691 PMID:34008892 PMID:11754102 More...
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RGD:1300364 |
NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
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G |
Nalcn |
sodium leak channel, non-selective |
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ISO |
ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay |
OMIM ClinVar |
PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:26938784 PMID:27633718 PMID:27681385 PMID:28333917 PMID:28454995 PMID:28492532 PMID:30167850 More...
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NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
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G |
Abca7 |
ATP binding cassette subfamily A member 7 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
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G |
Adamtsl2 |
ADAMTS-like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
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NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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G |
Antxr2 |
ANTXR cell adhesion molecule 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12973667 PMID:14508707 |
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NCBI chr14:11,542,266...11,682,112
Ensembl chr14:11,541,772...11,682,094
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G |
Chrm1 |
cholinergic receptor, muscarinic 1 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
PMID:25741868 |
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NCBI chr 1:205,567,046...205,583,001
Ensembl chr 1:205,567,220...205,582,356
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G |
Col1a1 |
collagen type I alpha 1 chain |
treatment |
IEP |
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RGD |
PMID:26097527 |
RGD:11041578 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col3a1 |
collagen type III alpha 1 chain |
treatment |
IEP |
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RGD |
PMID:26097527 |
RGD:11041578 |
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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G |
Drg1 |
developmentally regulated GTP binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr14:78,103,876...78,119,976
Ensembl chr14:78,103,876...78,119,953
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G |
Ergic1 |
endoplasmic reticulum-golgi intermediate compartment 1 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr10:16,531,192...16,627,183
Ensembl chr10:16,531,194...16,626,957
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G |
Fat1 |
FAT atypical cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
PMID:28492532 |
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NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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G |
Fgfrl1 |
fibroblast growth factor receptor-like 1 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928
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G |
Flii |
FLII, actin remodeling protein |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
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G |
Gldn |
gliomedin |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
PMID:25741868 PMID:28726266 |
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NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
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G |
Hoxa11 |
homeobox A11 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
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G |
Mid1ip1 |
MID1 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr X:12,060,993...12,063,318
Ensembl chr X:12,060,883...12,065,774
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G |
Mybpc2 |
myosin binding protein C2 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
PMID:26752647 |
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NCBI chr 1:94,994,104...95,017,650
Ensembl chr 1:94,994,104...95,017,584
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G |
Myh7b |
myosin heavy chain 7B |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
PMID:26752647 PMID:28492532 |
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NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084
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G |
Myo9a |
myosin IXA |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
PMID:25741868 PMID:26752647 |
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NCBI chr 8:60,149,234...60,348,726
Ensembl chr 8:60,149,234...60,350,514
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G |
Myom2 |
myomesin 2 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr16:74,520,148...74,592,658
Ensembl chr16:74,520,157...74,592,772
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G |
Myom3 |
myomesin 3 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr 5:147,992,737...148,043,282
Ensembl chr 5:147,992,737...148,043,274
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G |
Nr2c1 |
nuclear receptor subfamily 2, group C, member 1 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr 7:28,715,347...28,768,624
Ensembl chr 7:28,715,562...28,767,160
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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G |
Prdm2 |
PR/SET domain 2 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr 5:155,421,066...155,531,884
Ensembl chr 5:155,422,134...155,531,825
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G |
Prg4 |
proteoglycan 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10545950 |
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NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119
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G |
Psd3 |
pleckstrin and Sec7 domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
PMID:26752647 |
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NCBI chr16:21,465,643...22,035,846
Ensembl chr16:21,465,639...22,034,547
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G |
Ryr3 |
ryanodine receptor 3 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
PMID:28492532 PMID:29498452 |
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NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
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G |
Slc26a2 |
solute carrier family 26 member 2 |
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ISO |
associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) |
RGD |
PMID:21155763 |
RGD:11072411 |
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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G |
Sptbn4 |
spectrin, beta, non-erythrocytic 4 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
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G |
Syt2 |
synaptotagmin 2 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859
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G |
Tgfb3 |
transforming growth factor, beta 3 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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G |
Tmem214 |
transmembrane protein 214 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr 6:25,501,575...25,510,444
Ensembl chr 6:25,502,698...25,510,444
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G |
Tor1a |
torsin family 1, member A |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691
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G |
Vps8 |
VPS8 subunit of CORVET complex |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
PMID:26752647 |
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NCBI chr11:79,402,236...79,634,234
Ensembl chr11:79,402,239...79,634,133
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18470895 PMID:25741868 PMID:25957469 PMID:27381093 PMID:28492532 PMID:29314551 PMID:29805041 PMID:32902138 More...
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NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741870 PMID:28492532 PMID:29805041 PMID:32902138 More...
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NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
severity |
ISO |
associated with Kidney Failure, Chronic |
RGD |
PMID:22943310 |
RGD:7205482 |
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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G |
Foxc1 |
forkhead box C1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
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NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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G |
Cant1 |
calcium activated nucleotidase 1 |
|
ISO |
ClinVar Annotator: match by term: Desbuquois syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
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G |
Xylt1 |
xylosyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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G |
Abcc1 |
ATP binding cassette subfamily C member 1 |
|
ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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G |
Abcc6 |
ATP binding cassette subfamily C member 6 |
|
ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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G |
Cant1 |
calcium activated nucleotidase 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 PMID:21037275 PMID:21412251 PMID:21654728 PMID:22539336 PMID:25741868 PMID:28492532 PMID:28742282 PMID:31988067 PMID:32907608 PMID:34270679 More...
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NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
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G |
Cep20 |
centrosomal protein 20 |
|
ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837
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G |
Myh11 |
myosin heavy chain 11 |
|
ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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G |
Nde1 |
nudE neurodevelopment protein 1 |
|
ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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G |
Xylt1 |
xylosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:9536098 PMID:16571645 PMID:17576681 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28492532 More...
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NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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G |
Xylt1 |
xylosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 2 |
OMIM ClinVar |
PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 PMID:28492532 PMID:30554721 More...
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NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly |
OMIM ClinVar |
PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21964574 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:29858556 PMID:30230566 PMID:30373780 More...
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Ecel1 |
endothelin converting enzyme-like 1 |
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ISS |
OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 |
MouseDO |
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NCBI chr 9:87,814,434...87,829,154
Ensembl chr 9:87,816,718...87,826,675
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Fbn2 |
fibrillin 2 |
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ISS |
OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 |
MouseDO |
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NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Klhl7 |
kelch-like family member 7 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:18414213 PMID:25741868 PMID:29074562 |
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NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Mybpc1 |
myosin binding protein C1 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
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NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
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NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Myl11 |
myosin light chain 11 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:32707087 |
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NCBI chr 1:181,829,703...181,832,546
Ensembl chr 1:181,829,743...181,832,545
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
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NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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Tnni2 |
troponin I2, fast skeletal type |
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ISS ISO |
OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis |
MouseDO ClinVar |
PMID:12592607 PMID:17101001 PMID:17194691 PMID:25741868 |
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NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
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Tnnt3 |
troponin T3, fast skeletal type |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
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Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:12525556 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20507924 PMID:22135276 PMID:22581970 PMID:23924366 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 PMID:31836858 More...
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NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I |
ClinVar |
PMID:30777867 |
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NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Myh8 |
myosin heavy chain 8 |
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ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I |
ClinVar |
PMID:25741868 |
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NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 11 |
OMIM ClinVar |
PMID:30777867 |
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NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Ccin |
calicin |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
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Clta |
clathrin, light chain A |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
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Cntnap1 |
contactin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 |
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NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611
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Creb3 |
cAMP responsive element binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,817,835...57,823,171
Ensembl chr 5:57,817,832...57,824,390
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Fam221b |
family with sequence similarity 221, member B |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
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Gba2 |
glucosylceramidase beta 2 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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Glipr2 |
GLI pathogenesis-related 2 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,170,417...58,200,947
Ensembl chr 5:58,170,425...58,202,272
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Gne |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
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Hint2 |
histidine triad nucleotide binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
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Hrct1 |
histidine rich carboxyl terminus 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,982,409...57,983,186
Ensembl chr 5:57,982,470...57,982,790
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Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:30777867 |
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NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Msmp |
microseminoprotein, prostate associated |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:25741868 |
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NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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G |
Myh8 |
myosin heavy chain 8 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:25741868 |
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NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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G |
Npr2 |
natriuretic peptide receptor 2 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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G |
Or13c7 |
olfactory receptor family 13 subfamily C member 7 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
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G |
Or13j1 |
olfactory receptor family 13 subfamily J member 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
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Reck |
reversion-inducing-cysteine-rich protein with kazal motifs |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,102,915...58,169,513
Ensembl chr 5:58,102,981...58,169,502
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G |
Rgp1 |
RGP1 homolog, RAB6A GEF complex partner 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
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G |
Spag8 |
sperm associated antigen 8 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
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G |
Tln1 |
talin 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
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Tmem8b |
transmembrane protein 8B |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
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G |
Tpm2 |
tropomyosin 2 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
OMIM ClinVar |
PMID:7977374 PMID:11738357 PMID:12592607 PMID:17194691 PMID:17339586 PMID:17846275 PMID:18414213 PMID:18422639 PMID:18789687 PMID:19155175 PMID:20301436 PMID:22084935 PMID:22832343 PMID:23678273 PMID:23689010 PMID:23757202 PMID:23886664 PMID:24033266 PMID:24657080 PMID:24692096 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27726070 PMID:27854218 PMID:28492532 PMID:31966463 PMID:32092148 More...
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NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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Mybpc1 |
myosin binding protein C1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B |
OMIM ClinVar |
PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 PMID:25741868 PMID:26287277 PMID:28492532 More...
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NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957
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Myl11 |
myosin light chain 11 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C |
OMIM ClinVar |
PMID:32707087 |
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NCBI chr 1:181,829,703...181,832,546
Ensembl chr 1:181,829,743...181,832,545
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) |
OMIM ClinVar |
PMID:16642020 PMID:18695058 PMID:25256237 PMID:25741868 PMID:30826400 |
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NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Myh3 |
myosin heavy chain 3 |
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ISO |
DNA:missense mutation:exon:p.A234T (769C>T) (human) ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities |
ClinVar RGD |
PMID:25741868 PMID:18695058 |
RGD:12792960 |
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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G |
Tnni2 |
troponin I2, fast skeletal type |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
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G |
Tnnt3 |
troponin T3, fast skeletal type |
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ISO |
ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B |
ClinVar |
PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:25337069 PMID:25741868 More...
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NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 |
ClinVar |
PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:19142688 PMID:25741868 PMID:28492532 PMID:28779239 PMID:29805041 PMID:32902138 More...
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NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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G |
Tnni2 |
troponin I2, fast skeletal type |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 |
OMIM ClinVar |
PMID:12592607 PMID:17101001 PMID:17194691 PMID:23401156 PMID:23850728 PMID:25340332 PMID:25741868 PMID:26526134 PMID:27790376 PMID:28492532 More...
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NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
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G |
Tnnt3 |
troponin T3, fast skeletal type |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
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G |
Tpm2 |
tropomyosin 2 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 |
ClinVar |
PMID:25741868 |
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NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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G |
Tnnt3 |
troponin T3, fast skeletal type |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B2 |
OMIM ClinVar |
PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:25337069 PMID:25741868 More...
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NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 (Sheldon-Hall) |
OMIM ClinVar |
PMID:16642020 PMID:18414213 PMID:18695058 PMID:25256237 PMID:25741868 PMID:28492532 PMID:29625835 PMID:29805041 PMID:30826400 More...
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NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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G |
Tpm2 |
tropomyosin 2 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B4 |
ClinVar |
PMID:17339586 PMID:23678273 PMID:24692096 PMID:25741868 PMID:27726070 PMID:28492532 PMID:30285720 PMID:32092148 More...
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NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
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ISO |
ClinVar Annotator: match by term: Gordon syndrome |
OMIM ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:28492532 PMID:30285720 PMID:31680123 More...
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NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome |
OMIM ClinVar |
PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 PMID:23487782 PMID:24726473 PMID:25741868 PMID:27714920 PMID:28492532 PMID:31680123 PMID:32860008 More...
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NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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G |
Ecel1 |
endothelin converting enzyme-like 1 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 5D |
OMIM ClinVar |
PMID:18414213 PMID:23236030 PMID:23261301 PMID:24782201 PMID:25099528 PMID:25173900 PMID:25741868 PMID:26752647 PMID:28492532 PMID:31694722 PMID:32566668 More...
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NCBI chr 9:87,814,434...87,829,154
Ensembl chr 9:87,816,718...87,826,675
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G |
Fbn2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome |
ClinVar |
PMID:3495735 PMID:4750422 PMID:8653794 PMID:9536098 PMID:11754102 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:22325249 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:26257771 PMID:28166811 PMID:28492532 PMID:28831199 PMID:29907982 PMID:29926239 PMID:30675029 PMID:31096651 PMID:33435129 PMID:34008892 More...
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NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Myh8 |
myosin heavy chain 8 |
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ISO |
ClinVar Annotator: match by term: Dutch-Kentucky syndrome | ClinVar Annotator: match by term: Hecht syndrome DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human) |
OMIM ClinVar RGD |
PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 PMID:15590965 PMID:17041932 PMID:18049072 PMID:18414213 PMID:20949528 PMID:25305228 PMID:25741868 PMID:28492532 PMID:17041932 More...
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RGD:12914760 |
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch |
OMIM ClinVar |
PMID:25741868 PMID:27607563 PMID:27653382 PMID:27843126 PMID:27974811 PMID:28492532 PMID:31680123 More...
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NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Dse |
dermatan sulfate epimerase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 |
OMIM ClinVar |
PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 |
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NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992
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A2m |
alpha-2-macroglobulin |
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IEP |
protein:increased expression:serum |
RGD |
PMID:6163339 |
RGD:10046032 |
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Abcb1a |
ATP binding cassette subfamily B member 1A |
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IEP ISO |
mRNA:altered expression:liver CTD Direct Evidence: marker/mechanism mRNA:decreased expression:intestinal mucosa (rat) |
CTD RGD |
PMID:17827786 PMID:19152228 PMID:17827786 |
RGD:2315573, RGD:11040994 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcc6 |
ATP binding cassette subfamily C member 6 |
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IEP |
mRNA:decreased expression:kidney |
RGD |
PMID:22974786 |
RGD:11038789 |
NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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Abcg2 |
ATP binding cassette subfamily G member 2 |
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IEP |
mRNA:decreased expression:small intestine |
RGD |
PMID:19152228 |
RGD:2315573 |
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Acan |
aggrecan |
treatment |
IEP |
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RGD |
PMID:25821409 |
RGD:12879456 |
NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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Ace |
angiotensin I converting enzyme |
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IEP |
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RGD |
PMID:20213806 |
RGD:2325221 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Acsl1 |
acyl-CoA synthetase long-chain family member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18988084 |
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NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
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Acsl4 |
acyl-CoA synthetase long-chain family member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18988084 |
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NCBI chr X:105,942,794...106,006,573
Ensembl chr X:105,942,799...106,006,427
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Acsl5 |
acyl-CoA synthetase long-chain family member 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18988084 |
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NCBI chr 1:254,289,513...254,336,608
Ensembl chr 1:254,292,521...254,336,607
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Adam10 |
ADAM metallopeptidase domain 10 |
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IEP |
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RGD |
PMID:23897050 |
RGD:13703039 |
NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
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Adam17 |
ADAM metallopeptidase domain 17 |
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IEP |
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RGD |
PMID:23897050 |
RGD:13703039 |
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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Adipoq |
adiponectin, C1Q and collagen domain containing |
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IEP ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23326410 PMID:21681567 PMID:19026984 |
RGD:5685385, RGD:5686814 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adk |
adenosine kinase |
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IMP |
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RGD |
PMID:11160636 |
RGD:6482663 |
NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
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Ahcy |
adenosylhomocysteinase |
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IDA |
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RGD |
PMID:11123369 |
RGD:1598898 |
NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
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Ahr |
aryl hydrocarbon receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25194622 |
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NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Akt1 |
AKT serine/threonine kinase 1 |
treatment |
IDA |
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RGD |
PMID:22391142 |
RGD:10041007 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20472598 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alox15 |
arachidonate 15-lipoxygenase |
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ISO |
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RGD |
PMID:19675173 |
RGD:5509599 |
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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Anxa1 |
annexin A1 |
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IMP ISO |
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RGD |
PMID:10403283 PMID:23267026 |
RGD:2306928, RGD:7421573 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Anxa2 |
annexin A2 |
ameliorates |
IMP |
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RGD |
PMID:24819400 |
RGD:150519886 |
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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Aoc3 |
amine oxidase, copper containing 3 |
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IMP |
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RGD |
PMID:16947396 |
RGD:2313925 |
NCBI chr10:86,272,757...86,280,702
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Apoa4 |
apolipoprotein A4 |
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IEP |
protein:decreased expression:blood serum (rat) |
RGD |
PMID:10892728 |
RGD:5685694 |
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Arrb1 |
arrestin, beta 1 |
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IEP |
protein:increased expression:knee, synoviocyte (rat) |
RGD |
PMID:20965243 |
RGD:5509895 |
NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061
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Arrb2 |
arrestin, beta 2 |
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IEP |
protein:increased expression:knee, synoviocyte (rat) |
RGD |
PMID:20965243 |
RGD:5509895 |
NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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Atic |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
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IMP |
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RGD |
PMID:17408934 |
RGD:5144054 |
NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
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Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:21199477 PMID:22978269 |
RGD:10054249, RGD:10054498 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:21199477 PMID:22978269 |
RGD:10054249, RGD:10054498 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bdkrb1 |
bradykinin receptor B1 |
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IMP |
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RGD |
PMID:15001555 |
RGD:1625760 |
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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Bglap |
bone gamma-carboxyglutamate protein |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:21406003 |
RGD:6483549 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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Btk |
Bruton tyrosine kinase |
treatment |
IMP |
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RGD |
PMID:22228807 PMID:32083858 |
RGD:11040701, RGD:151665122 |
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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C3 |
complement C3 |
treatment |
ISO IDA |
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RGD |
PMID:20051658 PMID:7347767 |
RGD:7411688, RGD:11041098 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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C5 |
complement C5 |
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ISO IMP |
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RGD |
PMID:20975959 PMID:12355496 |
RGD:5130175, RGD:1600637 |
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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Cabin1 |
calcineurin binding protein 1 |
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ISO |
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RGD |
PMID:22275266 |
RGD:10054391 |
NCBI chr20:12,893,314...13,015,357
Ensembl chr20:12,893,358...13,015,357
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Calca |
calcitonin-related polypeptide alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16690336 |
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NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Cat |
catalase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22450443 |
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NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cbl |
Cbl proto-oncogene |
treatment |
IDA |
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RGD |
PMID:16984225 |
RGD:2306289 |
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Cblb |
Cbl proto-oncogene B |
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IMP |
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RGD |
PMID:16984225 |
RGD:2306289 |
NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839
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Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
IMP IDA IEP |
mRNA, protein:increased expression:synovium |
RGD |
PMID:18292571 PMID:24583103 PMID:17052673 PMID:18726678 |
RGD:2307052, RGD:11526142, RGD:2307143, RGD:2307008 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl3 |
C-C motif chemokine ligand 3 |
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IEP |
mRNA, protein:increased expression:synovium, monocytes |
RGD |
PMID:17052673 |
RGD:2307143 |
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Ccl5 |
C-C motif chemokine ligand 5 |
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IMP IEP |
mRNA, protein:increased expression:synovium, monocytes |
RGD |
PMID:9637726 PMID:17052673 |
RGD:4889940, RGD:2307143 |
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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Ccl7 |
C-C motif chemokine ligand 7 |
onset |
ISO |
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RGD |
PMID:17178563 |
RGD:6483780 |
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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Ccn1 |
cellular communication network factor 1 |
ameliorates |
IMP |
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RGD |
PMID:27653023 |
RGD:150429754 |
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Ccr1 |
C-C motif chemokine receptor 1 |
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ISO IEP |
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RGD |
PMID:18608173 PMID:14674010 |
RGD:5688144, RGD:1582346 |
NCBI chr 8:123,556,286...123,561,841
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Ccr2 |
C-C motif chemokine receptor 2 |
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IEP |
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RGD |
PMID:16320322 |
RGD:4144893 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5 |
C-C motif chemokine receptor 5 |
treatment |
IEP |
mRNA:increased expression:ankle (rat) |
RGD |
PMID:14674010 PMID:22289897 |
RGD:1582346, RGD:5687744 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd28 |
Cd28 molecule |
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IEP |
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RGD |
PMID:18601859 |
RGD:2307202 |
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cd4 |
Cd4 molecule |
treatment |
ISO IMP |
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RGD |
PMID:15479897 PMID:12010568 |
RGD:10058957, RGD:10058960 |
NCBI chr 4:157,668,878...157,695,366
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Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:20435931 |
RGD:5490544 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg |
CD40 ligand |
treatment |
IDA ISO IEP |
protein:increased expression:plasma (rat) |
RGD |
PMID:27218142 PMID:7689748 PMID:22611405 |
RGD:11344958, RGD:11352696, RGD:11352298 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Cd44 |
CD44 molecule (Indian blood group) |
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IEP |
protein:increased expression:joint, macrophage, lymphocyte |
RGD |
PMID:8639178 |
RGD:2289388 |
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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Cd46 |
CD46 molecule |
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ISO |
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RGD |
PMID:21852528 |
RGD:6483461 |
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cd59 |
CD59 molecule |
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IDA |
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RGD |
PMID:14519760 |
RGD:1600483 |
NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
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Cd69 |
Cd69 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12882836 |
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NCBI chr 4:162,725,446...162,733,364
Ensembl chr 4:162,725,446...162,733,542
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Cd80 |
Cd80 molecule |
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ISO |
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RGD |
PMID:22004797 |
RGD:6902903 |
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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Cdc42 |
cell division cycle 42 |
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ISO |
protein:increased activation:bone marrow, macrophage |
RGD |
PMID:21266780 |
RGD:5688271 |
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
treatment |
ISO |
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RGD |
PMID:10395320 |
RGD:8552686 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cfh |
complement factor H |
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ISO |
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RGD |
PMID:19828624 |
RGD:5684557 |
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Col2a1 |
collagen type II alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16200597 PMID:21188452 PMID:23326410 PMID:24709313 PMID:25194622 PMID:25481498 PMID:26070417 PMID:29908986 PMID:29935983 More...
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NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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Cp |
ceruloplasmin |
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IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19330884 PMID:19205849 |
RGD:2314686 |
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Cpox |
coproporphyrinogen oxidase |
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IEP |
protein:decreased activity:liver (rat) |
RGD |
PMID:9173682 |
RGD:1600958 |
NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
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Crhr1 |
corticotropin releasing hormone receptor 1 |
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IMP |
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RGD |
PMID:17550594 |
RGD:1626231 |
NCBI chr10:89,040,203...89,083,481
Ensembl chr10:89,040,203...89,083,481
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Crp |
C-reactive protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19330884 |
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NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Csf1 |
colony stimulating factor 1 |
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IEP |
protein:increased expression:dorsal root ganglion |
RGD |
PMID:32510872 |
RGD:127338469 |
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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Csf1r |
colony stimulating factor 1 receptor |
treatment |
IMP |
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RGD |
PMID:18434589 |
RGD:151665814 |
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Csf3 |
colony stimulating factor 3 |
treatment |
ISO |
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RGD |
PMID:12742377 |
RGD:11039465 |
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Csk |
C-terminal Src kinase |
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IMP |
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RGD |
PMID:10411542 |
RGD:5134371 |
NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292
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Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment |
IMP ISO |
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RGD |
PMID:22354915 PMID:7543497 |
RGD:7204500, RGD:7204519 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Ctsb |
cathepsin B |
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IEP |
mRNA:increased expression:knee joint, synovium (rat) |
RGD |
PMID:17195213 |
RGD:2315521 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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G |
Ctsk |
cathepsin K |
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IEP |
mRNA:increased expression:synovium, bone marrow |
RGD |
PMID:15353610 |
RGD:1601025 |
NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
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Ctss |
cathepsin S |
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ISO |
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RGD |
PMID:21439785 |
RGD:5686915 |
NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
IEP |
|
RGD |
PMID:11465708 |
RGD:4892002 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
IEP |
protein:increased expression:spinal cord |
RGD |
PMID:17123734 PMID:11465708 |
RGD:4891969, RGD:4892002 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
|
IEP |
|
RGD |
PMID:19096963 |
RGD:4889415 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
severity |
IMP |
|
RGD |
PMID:10358204 |
RGD:5135272 |
NCBI chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093
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G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
ameliorates |
ISO |
|
RGD |
PMID:24819400 |
RGD:150519886 |
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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G |
Dhodh |
dihydroorotate dehydrogenase (quinone) |
|
IMP |
|
RGD |
PMID:15182735 |
RGD:2316231 |
NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
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G |
Dnase2 |
deoxyribonuclease 2, lysosomal |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20974942 |
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NCBI chr19:23,244,661...23,247,329
Ensembl chr19:23,244,664...23,247,376
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25194984 |
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NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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G |
Drd1 |
dopamine receptor D1 |
treatment |
IEP IDA |
mRNA:increased expression:corpus striatum (rat) |
RGD |
PMID:23762129 PMID:23762129 |
RGD:7248592, RGD:7248592 |
NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
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G |
Drd2 |
dopamine receptor D2 |
treatment |
IEP IDA |
mRNA:increased expression:corpus striatum (rat) |
RGD |
PMID:23762129 PMID:23762129 |
RGD:7248592, RGD:7248592 |
NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
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G |
Edn1 |
endothelin 1 |
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ISO |
mRNA:increased expression:inguinal lymph node (mouse) |
RGD |
PMID:22249931 |
RGD:8661695 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Egfr |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7589090 |
|
NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Esr1 |
estrogen receptor 1 |
treatment |
ISO |
associated with Osteoporosis |
RGD |
PMID:20112355 |
RGD:10045851 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Esr2 |
estrogen receptor 2 |
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IDA |
|
RGD |
PMID:16269464 |
RGD:5508854 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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G |
F2 |
coagulation factor II |
|
ISO |
|
RGD |
PMID:21436072 |
RGD:5147764 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
F2r |
coagulation factor II (thrombin) receptor |
severity |
ISO |
|
RGD |
PMID:19674841 |
RGD:7387269 |
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
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G |
F2rl1 |
F2R like trypsin receptor 1 |
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ISO |
|
RGD |
PMID:12511586 |
RGD:735010 |
NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226
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G |
Faslg |
Fas ligand |
treatment |
IMP |
|
RGD |
PMID:22354915 |
RGD:7204500 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fcgr1a |
Fc gamma receptor 1A |
|
ISO IEP |
protein:increased expression:dorsal root ganglion CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12875993 PMID:16670289 PMID:32510872 |
RGD:9685708, RGD:127338469 |
NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994
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G |
Fcgr2a |
Fc gamma receptor 2A |
onset |
ISO |
|
RGD |
PMID:18354234 PMID:16623928 |
RGD:5508446, RGD:5508457 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fcgr2b |
Fc gamma receptor 2B |
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ISO |
|
RGD |
PMID:23341540 |
RGD:11344930 |
NCBI chr13:83,191,253...83,207,776
Ensembl chr13:83,193,163...83,207,778
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G |
Fgf8 |
fibroblast growth factor 8 |
|
IMP |
|
RGD |
PMID:18699993 |
RGD:2314157 |
NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
|
RGD |
PMID:22833219 |
RGD:10402072 |
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
|
RGD |
PMID:19180491 |
RGD:6483591 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
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IAGP |
|
RGD |
PMID:10857786 |
RGD:61066 |
NCBI chr12:7,623,658...7,699,474
Ensembl chr12:7,623,930...7,699,474
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G |
Foxp3 |
forkhead box P3 |
treatment |
IEP |
mRNA,protein:decreased expression:lung |
RGD |
PMID:29264841 PMID:23643080 |
RGD:38549364, RGD:38599003 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Gja1 |
gap junction protein, alpha 1 |
|
IMP |
|
RGD |
PMID:23165424 |
RGD:7207259 |
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Gli1 |
GLI family zinc finger 1 |
treatment |
IEP |
|
RGD |
PMID:25821409 |
RGD:12879456 |
NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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G |
Gpi |
glucose-6-phosphate isomerase |
|
ISO |
|
RGD |
PMID:23911657 |
RGD:11051957 |
NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
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G |
Grk2 |
G protein-coupled receptor kinase 2 |
disease_progression treatment |
IEP |
protein:increased expression:aorta (rat) protein:altered expression:T cell (rat) |
RGD |
PMID:28653218 PMID:28349925 PMID:28631356 |
RGD:13513975, RGD:13513979, RGD:13513976 |
NCBI chr 1:201,581,480...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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G |
Grn |
granulin precursor |
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ISO |
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RGD |
PMID:21393509 |
RGD:5509782 |
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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G |
Gsk3b |
glycogen synthase kinase 3 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16713974 |
|
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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G |
Gusb |
glucuronidase, beta |
treatment |
IEP |
|
RGD |
PMID:827200 |
RGD:42724460 |
NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905
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G |
Havcr2 |
hepatitis A virus cellular receptor 2 |
|
IEP |
mRNA,protein:altered expression:bone: |
RGD |
PMID:25264706 |
RGD:9686117 |
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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G |
Hdac6 |
histone deacetylase 6 |
treatment |
ISO |
|
RGD |
PMID:23541634 |
RGD:9681550 |
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
treatment |
IDA |
|
RGD |
PMID:21679445 |
RGD:8693318 |
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hmgb1 |
high mobility group box 1 |
|
IEP |
protein:altered localization:cytoplasm, extracellular matrix |
RGD |
PMID:12384917 |
RGD:728698 |
NCBI chr12:5,973,062...5,978,565
Ensembl chr12:5,901,586...5,978,565
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO |
|
RGD |
PMID:17119970 |
RGD:5508468 |
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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G |
Hp |
haptoglobin |
|
IEP |
mRNA, protein:increased expression:tendon, ankle protein:increased expression:serum |
RGD |
PMID:12801280 PMID:15899029 |
RGD:1626375, RGD:1626370 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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IDA |
|
RGD |
PMID:15529360 PMID:10882416 |
RGD:1624244, RGD:12910542 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Ifng |
interferon gamma |
|
IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19203382 PMID:22450443 PMID:12412757 PMID:7774621 |
RGD:2311498, RGD:10755750 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Igf1 |
insulin-like growth factor 1 |
|
IEP |
protein:decreased expression:plasma |
RGD |
PMID:19246225 |
RGD:2306697 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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|
G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
IEP |
mRNA, protein:increased expression:kidney, serum |
RGD |
PMID:14642797 |
RGD:10402760 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Ikbkb |
inhibitor of nuclear factor kappa B kinase subunit beta |
treatment |
ISO IMP |
|
RGD |
PMID:21087862 PMID:19652024 |
RGD:7495772, RGD:7495778 |
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
treatment |
IDA |
|
RGD |
PMID:16684367 |
RGD:12791276 |
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Il10 |
interleukin 10 |
treatment |
IEP ISO IDA |
CTD Direct Evidence: marker/mechanism|therapeutic protein:decreased expression:serum: |
CTD RGD |
PMID:20974942 PMID:22450443 PMID:19193354 PMID:19169271 PMID:23140046 PMID:22052031 PMID:15270736 More...
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RGD:2311059, RGD:8662976, RGD:7193038, RGD:7364838, RGD:1626677 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il13 |
interleukin 13 |
treatment |
ISO IMP |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:10444273 PMID:17665443 PMID:11860705 |
RGD:4889497, RGD:8549606 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il15 |
interleukin 15 |
|
ISO |
|
RGD |
PMID:20188418 |
RGD:5000761 |
NCBI chr19:25,640,013...25,706,818
Ensembl chr19:25,640,251...25,706,820
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G |
Il17a |
interleukin 17A |
treatment |
IMP ISO IEP IDA |
CTD Direct Evidence: marker/mechanism protein:increased expression:serum (rat) |
CTD RGD |
PMID:20974942 PMID:20925596 PMID:23377547 PMID:21194185 PMID:20925596 |
RGD:4781444, RGD:9130803, RGD:9068936, RGD:4781444 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il18 |
interleukin 18 |
disease_progression |
IEP IMP |
|
RGD |
PMID:19096963 PMID:15147345 |
RGD:4889415, RGD:4889503 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1a |
interleukin 1 alpha |
|
IDA IEP |
protein:increased expression:serum: |
RGD |
PMID:20379758 PMID:19169271 |
RGD:6907373, RGD:8662976 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
treatment |
IDA IEP ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:serum (rat) |
CTD RGD |
PMID:19330884 PMID:20131233 PMID:20974942 PMID:22450443 PMID:21557995 PMID:29408684 PMID:24028507 PMID:23140046 More...
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RGD:7175317, RGD:13792834, RGD:10755447, RGD:7193038 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20472598 |
|
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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G |
Il1rn |
interleukin 1 receptor antagonist |
treatment |
ISO IEP |
rat model treated with human protein human gene in a rat model mRNA:increased expression:popliteal lymph node (rat) mouse model treated with human protein |
RGD |
PMID:15270736 PMID:12727108 PMID:10921508 PMID:22267332 PMID:23006786 |
RGD:1626677, RGD:8551745, RGD:8551741, RGD:8549801, RGD:6907376 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il2 |
interleukin 2 |
treatment |
IEP IDA |
protein:increased expression:serum: |
RGD |
PMID:19169271 PMID:2492102 |
RGD:8662976, RGD:10047055 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il20 |
interleukin 20 |
|
IMP |
|
RGD |
PMID:20722035 |
RGD:5147393 |
NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
|
IDA |
|
RGD |
PMID:17928458 |
RGD:2325988 |
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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G |
Il33 |
interleukin 33 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20472598 |
|
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Il4 |
interleukin 4 |
treatment |
IMP ISO IEP |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:10444273 PMID:16869003 PMID:23972727 PMID:23140046 |
RGD:2317300, RGD:10402790, RGD:7193038 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il6 |
interleukin 6 |
treatment |
IEP ISO IDA IMP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20131233 PMID:20974942 PMID:22450443 PMID:24028507 PMID:8607900 PMID:10381487 PMID:23503893 More...
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RGD:10755447, RGD:11060267, RGD:11049553, RGD:11049551 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Il6st |
interleukin 6 cytokine family signal transducer |
|
ISO |
|
RGD |
PMID:20626857 |
RGD:5509945 |
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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G |
Itga4 |
integrin subunit alpha 4 |
treatment |
IMP |
|
RGD |
PMID:12969328 |
RGD:9698440 |
NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
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G |
Itgb2 |
integrin subunit beta 2 |
|
IMP |
|
RGD |
PMID:8881759 |
RGD:6482229 |
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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|
G |
Itgb3 |
integrin subunit beta 3 |
|
IMP |
protein:increased expression:endothelial cell |
RGD |
PMID:16869003 |
RGD:2317300 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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|
G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
|
RGD |
PMID:19265135 |
RGD:6482234 |
NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Jak1 |
Janus kinase 1 |
treatment |
IMP |
|
RGD |
PMID:29452839 |
RGD:19165139 |
NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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G |
Jak2 |
Janus kinase 2 |
treatment |
ISO IDA |
|
RGD |
PMID:22339472 PMID:23711144 PMID:22800927 |
RGD:10403066, RGD:10403081, RGD:10403074 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Jak3 |
Janus kinase 3 |
treatment |
IMP IEP |
|
RGD |
PMID:25762693 PMID:18234077 PMID:21434883 |
RGD:11533938, RGD:11533944, RGD:11533942 |
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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G |
Kcnn4 |
potassium calcium-activated channel subfamily N member 4 |
ameliorates |
ISO |
|
RGD |
PMID:25131209 |
RGD:150521609 |
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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G |
Klkb1 |
kallikrein B1 |
|
IMP IEP |
|
RGD |
PMID:22739815 PMID:9783057 |
RGD:7297047, RGD:7327138 |
NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
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G |
Kng2 |
kininogen 2 |
|
IEP |
peptidoglycan-polysaccharide-induced arthritis in Lewis rats |
RGD |
PMID:9214434 PMID:1996642 |
RGD:1600547, RGD:11059895 |
NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
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G |
Kyat1 |
kynurenine aminotransferase 1 |
|
IMP |
|
RGD |
PMID:16984225 |
RGD:2306289 |
NCBI chr 3:13,459,598...13,493,308
Ensembl chr 3:13,459,591...13,493,355
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G |
Lep |
leptin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15142272 |
|
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Lgals3 |
galectin 3 |
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IEP |
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RGD |
PMID:16507131 |
RGD:1625684 |
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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G |
Map3k5 |
mitogen-activated protein kinase kinase kinase 5 |
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ISO |
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RGD |
PMID:16331767 |
RGD:10412332 |
NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
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G |
Mif |
macrophage migration inhibitory factor |
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IDA |
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RGD |
PMID:10765927 |
RGD:1642012 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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G |
Mir146a |
microRNA 146a |
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ISO |
mRNA:increased expression:joints (mouse) |
RGD |
PMID:22660635 |
RGD:155663483 |
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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G |
Mir152 |
microRNA 152 |
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ISO IEP |
CTD Direct Evidence: marker/mechanism miRNA:decreased exression:synovial membrane of synovial joint |
CTD RGD |
PMID:25194984 PMID:25194984 |
RGD:21066343 |
NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
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G |
Mir23b |
microRNA 23b |
treatment |
ISO |
mRNA:decreased expression:joint (mouse) |
RGD |
PMID:22660635 PMID:22660635 |
RGD:155663483, RGD:155663483 |
NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763
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G |
Mir26a |
microRNA 26a |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24423102 |
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NCBI chr 8:118,755,289...118,755,378
Ensembl chr 8:118,755,289...118,755,378
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G |
Mmp1 |
matrix metallopeptidase 1 |
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IDA IEP |
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RGD |
PMID:21288455 PMID:24011916 PMID:21108488 |
RGD:7207362, RGD:8549748, RGD:7207365 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp13 |
matrix metallopeptidase 13 |
treatment |
IEP IDA |
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RGD |
PMID:24244039 PMID:11435459 |
RGD:8694124, RGD:1582329 |
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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G |
Mmp3 |
matrix metallopeptidase 3 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:ankle joint |
CTD RGD |
PMID:20974942 PMID:20703013 PMID:24244039 PMID:24244039 PMID:24011916 PMID:21679445 More...
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RGD:7241231, RGD:8694124, RGD:8694124, RGD:8549748, RGD:8693318 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp9 |
matrix metallopeptidase 9 |
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IEP |
protein:increased expression:cartilage, serum, synovial fluid |
RGD |
PMID:17463159 |
RGD:1642035 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mpo |
myeloperoxidase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22450443 |
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NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
susceptibility |
ISO |
DNA:transversion: :m.7778G>T (mouse) |
RGD |
PMID:19759059 |
RGD:5490297 |
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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G |
Mtor |
mechanistic target of rapamycin kinase |
treatment |
IEP |
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RGD |
PMID:22391142 |
RGD:10041007 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
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ISO |
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RGD |
PMID:20131263 |
RGD:8552884 |
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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G |
Myod1 |
myogenic differentiation 1 |
treatment |
IEP |
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RGD |
PMID:23781298 |
RGD:9686078 |
NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
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G |
Myog |
myogenin |
treatment |
IDA |
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RGD |
PMID:23781298 |
RGD:9686078 |
NCBI chr13:45,745,455...45,748,044
Ensembl chr13:45,745,436...45,748,039
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G |
Ncf1 |
neutrophil cytosolic factor 1 |
severity |
IAGP |
DNA:missense mutations:cds:p.M106V, p.M153T (rat) |
RGD |
PMID:12461526 |
RGD:628543 |
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
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ISO |
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RGD |
PMID:21424514 PMID:20131263 |
RGD:5508728, RGD:8552884 |
NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Nos2 |
nitric oxide synthase 2 |
|
IMP ISO |
protein:increased expression:ankle joint (mouse) |
RGD |
PMID:12826065 PMID:21880869 |
RGD:1358527, RGD:5509060 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
treatment |
IEP |
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RGD |
PMID:29337196 |
RGD:13504725 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Npsr1 |
neuropeptide S receptor 1 |
treatment |
IMP |
|
RGD |
PMID:24884567 |
RGD:9831205 |
NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:22,606,946...22,831,558
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
severity |
ISO |
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RGD |
PMID:16905546 |
RGD:11073695 |
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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G |
Nr1h2 |
nuclear receptor subfamily 1, group H, member 2 |
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ISO |
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RGD |
PMID:21859686 |
RGD:6480864 |
NCBI chr 1:95,041,967...95,047,377
Ensembl chr 1:95,041,967...95,047,377
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G |
Nr1h3 |
nuclear receptor subfamily 1, group H, member 3 |
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ISO |
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RGD |
PMID:21859686 |
RGD:6480864 |
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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G |
Nras |
NRAS proto-oncogene, GTPase |
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IEP |
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RGD |
PMID:18706093 |
RGD:2300006 |
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Nts |
neurotensin |
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IEP |
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RGD |
PMID:8518953 |
RGD:9743903 |
NCBI chr 7:37,564,944...37,574,350
Ensembl chr 7:37,564,533...37,574,423
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G |
Orm1 |
orosomucoid 1 |
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IEP |
protein:increased expression:liver |
RGD |
PMID:16166348 |
RGD:2316639 |
NCBI chr 5:76,766,637...76,776,149
Ensembl chr 5:76,772,941...76,776,154
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G |
P2ry12 |
purinergic receptor P2Y12 |
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IMP |
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RGD |
PMID:22028806 |
RGD:6480518 |
NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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G |
Pam |
peptidylglycine alpha-amidating monooxygenase |
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IDA |
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RGD |
PMID:17138865 |
RGD:6483527 |
NCBI chr 9:97,998,581...98,271,966
Ensembl chr 9:98,122,916...98,271,965
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
severity |
ISO |
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RGD |
PMID:16356201 |
RGD:5684009 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
severity |
ISO |
protein:increased expression:knee joint, blood vessels (mouse) |
RGD |
PMID:22548760 PMID:14613294 PMID:21982514 |
RGD:6484738, RGD:6771222, RGD:6771177 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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G |
Pgf |
placental growth factor |
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ISO |
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RGD |
PMID:19180491 |
RGD:6483591 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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G |
Pik3cd |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta |
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ISO |
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RGD |
PMID:18412166 |
RGD:6482696 |
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
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ISO |
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RGD |
PMID:20374644 PMID:18412166 |
RGD:6482684, RGD:6482696 |
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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G |
Plau |
plasminogen activator, urokinase |
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ISO |
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RGD |
PMID:20973954 |
RGD:6483801 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Ptch1 |
patched 1 |
treatment |
IEP |
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RGD |
PMID:25821409 |
RGD:12879456 |
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Ptger4 |
prostaglandin E receptor 4 |
treatment disease_progression |
ISO IEP IMP |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:tarsal joint, synovium (rat) |
CTD RGD |
PMID:18287210 PMID:20423341 PMID:11207665 PMID:18287210 |
RGD:10003041, RGD:10043377, RGD:10003052 |
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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G |
Ptges |
prostaglandin E synthase |
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IEP |
mRNA, protein:increased expression:paw |
RGD |
PMID:12707354 |
RGD:2300108 |
NCBI chr 3:14,177,892...14,189,236
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G |
Ptges3 |
prostaglandin E synthase 3 |
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IEP |
mRNA:increased expression:paw (rat) |
RGD |
PMID:12707354 |
RGD:2300108 |
NCBI chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084
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G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
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IEP |
mRNA, protein:increased expression:synovium |
RGD |
PMID:22289897 |
RGD:5687744 |
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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IMP IEP ISO |
mRNA, protein:increased expression:synovium protein:increased expression:autopod joint |
RGD |
PMID:18758904 PMID:22289897 PMID:21765105 |
RGD:2300221, RGD:5687744, RGD:5508310 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
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IEP |
protein:increased expression:metatarsophalangeal joint, mononuclear cell (rat) |
RGD |
PMID:24998229 |
RGD:11532752 |
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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G |
Rag2 |
recombination activating 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20974942 |
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NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
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ISO |
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RGD |
PMID:21665435 PMID:19950279 |
RGD:5147558, RGD:5147586 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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