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: | Joint Diseases |
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Accession: | DOID:9003266
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browse the term
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Definition: | Diseases involving the JOINTS. |
Synonyms: | exact_synonym: | Arthroses; Arthrosis; Joint Disease |
| primary_id: | MESH:D007592 |
| alt_id: | RDO:0001004 |
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 chr20:44,237,491...44,255,064
Ensembl chr20:44,237,491...44,255,064
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Ltf |
lactotransferrin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16640825 |
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NCBI chr 8:119,290,416...119,313,261
Ensembl chr 8:119,290,416...119,313,261
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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 chr10:73,331,864...73,362,784
Ensembl chr10:73,333,119...73,362,783
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Hgf |
hepatocyte growth factor |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:24387171 |
RGD:8548659 |
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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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 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Ace |
angiotensin I converting enzyme |
susceptibility |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:22876137 |
RGD:7829800 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Ano6 |
anoctamin 6 |
severity |
ISO |
DNA:SNP: :rs17095830(human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138694, PMID:23308121 |
RGD:9684849 |
NCBI chr 7:137,142,063...137,335,208
Ensembl chr 7:137,142,170...137,335,208
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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 chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
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Aspn |
asporin |
susceptibility |
ISO |
DNA:repeats:exon: |
RGD |
PMID:20144272 |
RGD:9684964 |
NCBI chr17:14,655,958...14,681,355
Ensembl chr17:14,656,009...14,679,409
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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 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
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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 chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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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 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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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 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733
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Fcgr3a |
Fc fragment of IgG receptor IIIa |
severity |
ISO |
protein:decreased expression:polymorphonuclear leucocyte |
RGD |
PMID:8453794 |
RGD:5508388 |
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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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 chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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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 chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
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Il17a |
interleukin 17A |
treatment |
ISO |
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RGD |
PMID:24035250 |
RGD:9068448 |
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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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 9:46,840,646...46,881,241
Ensembl chr 9:46,840,992...46,881,264
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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 |
PMID:17952073 PMID:20062062, PMID:19522770, PMID:19877036 |
RGD:8549549, RGD:8549630 |
NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
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Il6 |
interleukin 6 |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:26339141 |
RGD:12792209 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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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:156,716,469...156,726,367
Ensembl chr X:156,716,604...156,725,977
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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 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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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 4:152,892,388...152,972,196
Ensembl chr 4:152,892,388...152,972,201
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Pgf |
placental growth factor |
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ISO |
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RGD |
PMID:21873332 |
RGD:6483576 |
NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
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Psmb9 |
proteasome 20S subunit beta 9 |
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ISO |
DNA: snp: rs17587 |
RGD |
PMID:22034108 |
RGD:6483349 |
NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
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Ptger4 |
prostaglandin E receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469, PMID:21743469 |
RGD:6483530 |
NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
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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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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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 |
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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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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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 chr20:2,038,158...2,040,422
Ensembl chr20:2,038,158...2,040,422
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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 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
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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 chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
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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 chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
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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 chr10:85,071,058...85,085,596
Ensembl chr10:85,071,064...85,084,850
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Thbd |
thrombomodulin |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21556780 |
RGD:5684983 |
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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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 chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
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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 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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Vip |
vasoactive intestinal peptide |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:20340024 |
RGD:5685387 |
NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
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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 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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Agt |
angiotensinogen |
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IDA |
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RGD |
PMID:23291307 |
RGD:8549476 |
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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Atp5f1d |
ATP synthase F1 subunit delta |
treatment |
IEP |
associated with Hypercholesterolemia |
RGD |
PMID:26047104 |
RGD:11057945 |
NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
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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 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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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 chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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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 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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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 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
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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 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
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Vps33b |
VPS33B, late endosome and lysosome associated |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:25741868 |
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NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
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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 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
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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:156,460,785...156,487,245
Ensembl chr X:156,463,953...156,487,245
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Mus81 |
MUS81 structure-specific endonuclease subunit |
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ISS |
OMIM:208050 |
MouseDO |
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NCBI chr 1:220,862,474...220,867,973
Ensembl chr 1:220,862,386...220,867,815
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Slc2a10 |
solute carrier family 2 member 10 |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity syndrome ClinVar Annotator: match by OMIM:208050 |
OMIM ClinVar |
PMID:12801113 PMID:14569121 PMID:16550171 PMID:17163528 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:25373504 PMID:25741868 PMID:25944730 PMID:26376865 PMID:28492532 PMID:28726533 PMID:29907982 |
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NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
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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 chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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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 chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
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Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Joint pains |
ClinVar |
PMID:28492532 PMID:30311386 |
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NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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Wnt10a |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: JOINT PAINS |
ClinVar |
PMID:28492532 |
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NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
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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 2:80,131,563...80,256,948
Ensembl chr 2:80,131,563...80,256,954
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B2m |
beta-2 microglobulin |
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ISO |
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RGD |
PMID:16575857 |
RGD:6482692 |
NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
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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 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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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 4:163,041,147...163,049,065
Ensembl chr 4:163,041,141...163,049,084
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Cnr2 |
cannabinoid receptor 2 |
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IMP |
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RGD |
PMID:18075852 |
RGD:2316223 |
NCBI chr 5:154,242,010...154,268,126
Ensembl chr 5:154,260,062...154,268,126
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Col2a1 |
collagen type II alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17299831 PMID:24144632 PMID:26640276 |
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NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Copa |
COPI coat complex subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25894502 |
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NCBI chr13:90,467,285...90,508,894
Ensembl chr13:90,467,265...90,508,932
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Fcgr3a |
Fc fragment of IgG receptor IIIa |
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 chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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Gc |
GC, vitamin D binding protein |
susceptibility |
ISO |
associated with Spondylitis, Ankylosing;DNA:SNPs: :rs222016, rs222020,rs3733359(human) |
RGD |
PMID:21844150 |
RGD:5509918 |
NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
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Hp |
haptoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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Il23r |
interleukin 23 receptor |
susceptibility |
ISO |
associated with Psoriasis;DNA:haplotype::rs7530511, rs11209026(human) |
RGD |
PMID:19035472 |
RGD:8549572 |
NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
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Irf5 |
interferon regulatory factor 5 |
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ISO |
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RGD |
PMID:32743529 |
RGD:40924631 |
NCBI chr 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
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Parp1 |
poly (ADP-ribose) polymerase 1 |
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ISO |
associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, p.V762A (40329T>C) (human) |
RGD |
PMID:16461442 |
RGD:1601085 |
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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RT1-Ba |
RT1 class II, locus Ba |
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ISO |
DNA:polymorphism (human) |
RGD |
PMID:20472930 |
RGD:5147787 |
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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RT1-Bb |
RT1 class II, locus Bb |
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ISO |
DNA:polymorphism (human) |
RGD |
PMID:20472930 |
RGD:5147787 |
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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G |
RT1-CE13 |
RT1 class I, locus CE13 |
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ISO |
associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:HLA-B*27, HLA-B*35, HLA-B*44 (human) |
RGD |
PMID:10648455 |
RGD:7364930 |
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RT1-M5 |
RT1 class Ib, locus M5 |
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ISO |
associated with Inflammatory Bowel Diseases;DNA:polymorphisms:cds:multiple (human) |
RGD |
PMID:10648455 |
RGD:7364930 |
NCBI chr20:2,038,158...2,040,422
Ensembl chr20:2,038,158...2,040,422
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G |
Sele |
selectin E |
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ISO |
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RGD |
PMID:16207337 |
RGD:1580041 |
NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
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Tlr4 |
toll-like receptor 4 |
susceptibility |
ISO |
associated with Behcet Syndrome;DNA:haplotype: : |
RGD |
PMID:19395541 |
RGD:7777177 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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G |
Zfp36 |
zinc finger protein 36 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15944294 |
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NCBI chr 1:85,380,088...85,382,565
Ensembl chr 1:85,380,088...85,382,569
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G |
Adgrg6 |
adhesion G protein-coupled receptor G6 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:26004201 PMID:26752647 |
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NCBI chr 1:8,593,342...8,751,540
Ensembl chr 1:8,593,075...8,751,198
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G |
Chrng |
cholinergic receptor nicotinic gamma subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16826520 PMID:16826531 |
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NCBI chr 9:94,302,218...94,308,591
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G |
Ecel1 |
endothelin converting enzyme-like 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31694722 |
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NCBI chr 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18628313 |
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NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
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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 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
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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 |
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NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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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 chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis |
ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:31680123 |
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NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:20839240 PMID:21911697 PMID:22473935 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 |
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NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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G |
Sh3tc2 |
SH3 domain and tetratricopeptide repeats 2 |
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ISO |
ClinVar Annotator: match by term: Guérin-Stern syndrome |
ClinVar |
PMID:20220177 PMID:21291453 PMID:25741868 PMID:26392352 PMID:26794302 PMID:28492532 |
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NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
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G |
Slc35a3 |
solute carrier family 35 member A3 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:28492532 |
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NCBI chr 2:219,705,618...219,741,886
Ensembl chr 2:219,705,620...219,741,886
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G |
Syne1 |
spectrin repeat containing nuclear envelope protein 1 |
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ISO |
DNA:mutation:splice junction: |
RGD |
PMID:19542096 |
RGD:13209012 |
NCBI chr 1:41,608,287...41,763,591 NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
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G |
Tnni2 |
troponin I2, fast skeletal type |
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ISO |
distal arthrogryposis type 2B, OMIM:601680 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal |
ClinVar |
PMID:25741868, PMID:12592607 |
RGD:1599481 |
NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
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G |
Tnnt3 |
troponin T3, fast skeletal type |
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ISO |
distal arthrogryposis type 2B, OMIM:601680 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532, PMID:12865991 |
RGD:1599490 |
NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
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G |
Tpm2 |
tropomyosin 2 |
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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 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
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G |
Vps33b |
VPS33B, late endosome and lysosome associated |
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ISO |
ARC syndrome, OMIM:208085 |
RGD |
PMID:15052268 |
RGD:1599749 |
NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis |
ClinVar |
PMID:22526018 PMID:24195946 PMID:25741868 PMID:28492532 PMID:30611313 |
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NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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G |
Esr1 |
estrogen receptor 1 |
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ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE |
ClinVar |
PMID:27782104 |
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NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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G |
Syne1 |
spectrin repeat containing nuclear envelope protein 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE |
OMIM ClinVar |
PMID:19542096 PMID:24319099 PMID:24838835 PMID:25741868 PMID:26467025 PMID:27782104 PMID:28492532 |
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NCBI chr 1:41,608,287...41,763,591 NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
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Tor1a |
torsin family 1, member A |
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ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 |
ClinVar OMIM |
PMID:18827015 PMID:25741868 PMID:28516161 PMID:29053766 PMID:30244176 |
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NCBI chr 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
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G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT |
ClinVar OMIM |
PMID:29432562 |
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NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
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G |
Slc35a3 |
solute carrier family 35 member A3 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, mental retardation, and seizures ClinVar Annotator: match by OMIM:615553 |
OMIM ClinVar |
PMID:16199547 PMID:24031089 PMID:25741868 PMID:28328131 PMID:28492532 PMID:28777481 |
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NCBI chr 2:219,705,618...219,741,886
Ensembl chr 2:219,705,620...219,741,886
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Nek9 |
NIMA-related kinase 9 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy |
ClinVar OMIM |
PMID:26633546 |
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NCBI chr 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267
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G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
ClinVar |
PMID:25741868 PMID:31319225 |
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NCBI chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
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G |
Vps33b |
VPS33B, late endosome and lysosome associated |
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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 |
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NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
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G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 |
ClinVar OMIM |
PMID:20190753 PMID:25741868 PMID:28492532 |
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NCBI chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
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G |
Copa |
COPI coat complex subunit alpha |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
OMIM ClinVar |
PMID:25741868 PMID:25894502 PMID:28492532 PMID:29137621 |
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NCBI chr13:90,467,285...90,508,894
Ensembl chr13:90,467,265...90,508,932
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G |
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:25741868 PMID:27965258 |
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NCBI chr10:57,692,474...57,747,608
Ensembl chr10:57,692,474...57,822,498
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G |
Umod |
uromodulin |
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ISO |
ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria ClinVar Annotator: match by term: UMOD-Associated Kidney Disease ClinVar Annotator: match by term: Uromodulin-associated kidney disease ClinVar Annotator: match by term: HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1 ClinVar Annotator: match by OMIM:162000 |
ClinVar OMIM |
PMID:12205338 PMID:12471200 PMID:12629136 PMID:12634862 PMID:14531790 PMID:14569098 PMID:14570709 PMID:15589826 PMID:16135773 PMID:16883323 PMID:20172860 PMID:22117067 PMID:22693617 PMID:24670410 PMID:25741868 PMID:26467025 PMID:27729211 PMID:27795632 PMID:28492532 PMID:30376835, PMID:12471200 |
RGD:737832 |
NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
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Col12a1 |
collagen type XII alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
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G |
Col6a1 |
collagen type VI alpha 1 chain |
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ISO |
ClinVar Annotator: match by OMIM:158810 ClinVar Annotator: match by term: Collagen VI-related myopathy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar CTD |
PMID:7695699 PMID:8218237 PMID:11707460 PMID:15689448 PMID:16130093 PMID:18414213 PMID:19344236 PMID:20302629 PMID:20981092 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:30564623 |
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NCBI chr20:12,657,913...12,676,370
Ensembl chr20:12,658,065...12,675,561
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Col6a2 |
collagen type VI alpha 2 chain |
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ISO |
ClinVar Annotator: match by OMIM:158810 ClinVar Annotator: match by term: Collagen VI-related myopathy CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:12840783 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19309692 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20301676 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 |
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NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
ClinVar Annotator: match by OMIM:158810 ClinVar Annotator: match by term: Collagen VI-related myopathy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar CTD |
PMID:15563506 PMID:15689448 PMID:16935502 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 |
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NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
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G |
Ftcd |
formimidoyltransferase cyclodeaminase |
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ISO |
ClinVar Annotator: match by term: Collagen VI-related myopathy |
ClinVar |
PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
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G |
Ackr3 |
atypical chemokine receptor 3 |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:97,355,881...97,367,455
Ensembl chr 9:97,355,924...97,367,445
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G |
Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:14673707 PMID:25741868 |
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NCBI chr X:16,170,585...16,196,691
Ensembl chr X:16,050,780...16,196,789
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G |
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 |
PMID:7695699 PMID:7881296 PMID:8218237 PMID:8268929 PMID:8782832 PMID:9536098 PMID:9580662 PMID:9724608 PMID:10329467 PMID:10419498 PMID:11707460 PMID:11865138 PMID:11932968 PMID:12840783 PMID:15689448 PMID:15955946 PMID:16130093 PMID:16141002 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17785674 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18642359 PMID:18825676 PMID:19204719 PMID:19344236 PMID:19564581 PMID:19884007 PMID:20301468 PMID:20302629 PMID:20576434 PMID:20882040 PMID:20976770 PMID:20981092 PMID:21280092 PMID:21520333 PMID:21943391 PMID:22075033 PMID:22975586 PMID:23040494 PMID:23326386 PMID:23572247 PMID:23661642 PMID:24033266 PMID:24038877 PMID:24223098 PMID:24271325 PMID:24801232 PMID:24959844 PMID:25535305 PMID:25635128 PMID:25741868 PMID:25749816 PMID:25978941 PMID:26436962 PMID:26467025 PMID:26867126 PMID:27246988 PMID:27363342 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27884173 PMID:28182637 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28771251 PMID:28877744 PMID:28984114 PMID:29406609 PMID:29417091 PMID:29419890 PMID:30564623 PMID:30706156, PMID:8782832 |
RGD:1600934 |
NCBI chr20:12,657,913...12,676,370
Ensembl chr20:12,658,065...12,675,561
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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 Annotator: match by term: BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE |
ClinVar OMIM |
PMID:1788629 PMID:4271325 PMID:7695699 PMID:7785673 PMID:8218237 PMID:8782832 PMID:9334230 PMID:9536098 PMID:11865138 PMID:12840783 PMID:15563506 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:18852439 PMID:19309692 PMID:19344236 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20106987 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:21520333 PMID:22075033 PMID:23040494 PMID:23138527 PMID:23170014 PMID:23326386 PMID:23757202 PMID:23940025 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24314752 PMID:24801232 PMID:25204870 PMID:25326637 PMID:25380242 PMID:25533456 PMID:25535305 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27159402 PMID:27363342 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:28688748 PMID:28831785 PMID:29172004 PMID:29419890 PMID:30564623 PMID:32860008, PMID:8782832 |
RGD:1600934 |
NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
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G |
Col6a3 |
collagen type VI alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
OMIM ClinVar |
PMID:7695699 PMID:8218237 PMID:9536084 PMID:9536098 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:20976770 PMID:20981092 PMID:21280092 PMID:22995991 PMID:23040494 PMID:23175733 PMID:23572247 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24332716 PMID:24907562 PMID:25214167 PMID:25224718 PMID:25326635 PMID:25380242 PMID:25535305 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26436962 PMID:26467025 PMID:26752647 PMID:26872670 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27854218 PMID:28097933 PMID:28492532 PMID:28562329 PMID:28688748 PMID:29970176 PMID:30467950 PMID:30487145 PMID:30564623 PMID:31044083 |
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NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
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Cops8 |
COP9 signalosome subunit 8 |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:97,772,224...97,782,055
Ensembl chr 9:97,772,184...97,782,067
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Ftcd |
formimidoyltransferase cyclodeaminase |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
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Col12a1 |
collagen type XII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 2 |
ClinVar OMIM |
PMID:24334604 PMID:24334769 PMID:25741868 PMID:28492532 |
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NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
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RGD1564308 |
similar to LOC495042 protein |
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ISO |
ClinVar Annotator: match by term: Hip dysplasia, beukes type |
ClinVar |
PMID:2389793 PMID:21228277 PMID:26428751 |
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NCBI chr16:49,485,022...49,509,756
Ensembl chr16:49,485,256...49,509,767
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Ufsp2 |
UFM1-specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: OSTEOARTHROPATHY, PREMATURE DEGENERATIVE, OF HIP ClinVar Annotator: match by term: Hip dysplasia, beukes type |
OMIM ClinVar |
PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28892125 |
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NCBI chr16:49,465,958...49,484,975
Ensembl chr16:49,465,968...49,484,985
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Nod2 |
nucleotide-binding oligomerization domain containing 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Blau syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sarcoidosis, early-onset ClinVar Annotator: match by OMIM:186580 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 |
PMID:7825454 PMID:9124059 PMID:11087742 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:14508222 PMID:14522785 PMID:14765395 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:15998797 PMID:16278823 PMID:16485124 PMID:16804397 PMID:17157607 PMID:17207093 PMID:17393391 PMID:17941079 PMID:17968944 PMID:18056399 PMID:18240302 PMID:18419343 PMID:18489434 PMID:18507017 PMID:18541930 PMID:18718560 PMID:18955195 PMID:19116920 PMID:19467619 PMID:19479836 PMID:19479837 PMID:19713276 PMID:20032092 PMID:20039400 PMID:20084402 PMID:20199415 PMID:20230816 PMID:20565245 PMID:20959815 PMID:21274544 PMID:21335489 PMID:21548950 PMID:21830272 PMID:21914217 PMID:21983784 PMID:22319155 PMID:22470564 PMID:22509093 PMID:22684479 PMID:22926499 PMID:22942351 PMID:23102769 PMID:23334666 PMID:23806086 PMID:24033266 PMID:24088041 PMID:24391456 PMID:24583628 PMID:24595243 PMID:24713464 PMID:24803813 PMID:24876985 PMID:24960071 PMID:25093298 PMID:25136265 PMID:25416713 PMID:25429073 PMID:25687216 PMID:25741868 PMID:25829188 PMID:26070941 PMID:26164256 PMID:26316104 PMID:26500656 PMID:26606664 PMID:27306066 PMID:27339507 PMID:28492532 PMID:28639104 PMID:28814775 PMID:29248579 PMID:29503906 PMID:29697845 PMID:30166421, PMID:19479837, PMID:15812565, PMID:19116920, PMID:11528384 |
RGD:8547518, RGD:8547515, RGD:8158051, RGD:8158040 |
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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Dusp29 |
dual specificity phosphatase 29 |
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ISO |
ClinVar Annotator: match by term: Young Simpson syndrome |
ClinVar |
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25741868 PMID:27696664 |
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NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
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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 Annotator: match by term: Young Simpson syndrome ClinVar Annotator: match by OMIM:603736 |
ClinVar OMIM |
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28758091 PMID:30353918, PMID:22077973 |
RGD:9588484 |
NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
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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 OMIM:612394 |
OMIM ClinVar |
PMID:18834968 PMID:25741868 PMID:28492532 |
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NCBI chr12:22,716,421...22,726,982
Ensembl chr12:22,716,423...22,726,982
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Chst14 |
carbohydrate sulfotransferase 14 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIB |
ClinVar |
PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 |
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NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
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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 AND joint hypermobility |
ClinVar |
PMID:28492532 |
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NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
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Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by OMIM:229200 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:25741868 |
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NCBI chr19:54,843,864...55,083,935
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Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 2 ClinVar Annotator: match by OMIM:614170 ClinVar Annotator: match by This custom term has been created by RGD curators. |
OMIM ClinVar |
PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 |
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NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
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Fkbp10 |
FKBP prolyl isomerase 10 |
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ISS ISO |
OMIM:259450 | OMIM:609220 ClinVar Annotator: match by term: Bruck Syndrome |
MouseDO ClinVar |
PMID:25741868 |
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NCBI chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
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Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
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ISS |
OMIM:259450 | OMIM:609220 |
MouseDO |
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NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
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Fkbp10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by null ClinVar Annotator: match by term: Bruck syndrome 1 ClinVar Annotator: match by term: Kuskokwim disease ClinVar Annotator: match by OMIM:259450 |
ClinVar OMIM |
PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 PMID:20839288 PMID:21567934 PMID:22949511 PMID:23712425 PMID:25741868 |
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NCBI chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
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Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 2 ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:609220 |
OMIM ClinVar |
PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 PMID:25741868 PMID:28492532 PMID:29178448 |
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NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
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Prg4 |
proteoglycan 4 |
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ISO |
ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome ClinVar Annotator: match by term: Camptodactyly arthropathy coxa vara pericarditis syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:208250 |
OMIM ClinVar CTD |
PMID:10545950 PMID:25741868 PMID:29397575 PMID:32860008 |
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NCBI chr13:67,672,588...67,688,902
Ensembl chr13:67,672,878...67,688,477
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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 chr13:67,611,685...67,672,833
Ensembl chr13:67,611,708...67,672,827
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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 Annotator: match by OMIM:610756 |
ClinVar OMIM |
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9238033 PMID:11443545 PMID:11710928 PMID:12820975 PMID:15494306 PMID:18510925 PMID:18637129 PMID:19934020 PMID:20944642 PMID:22826098 PMID:23221806 PMID:23232694 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24728327 PMID:25620205 PMID:25741868 PMID:26556299 PMID:26884178 PMID:27004399 PMID:29478780, PMID:11443545 |
RGD:1601070 |
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar Annotator: match by OMIM:610758 |
OMIM ClinVar |
PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 |
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NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
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Polr1g |
RNA polymerase I subunit G |
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ISO |
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:80,267,725...80,271,001
Ensembl chr 1:80,267,725...80,271,001
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Ankh |
ANKH inorganic pyrophosphate transport regulator |
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ISO ISS |
OMIM:118600 | OMIM:118610 | OMIM:600668 ClinVar Annotator: match by term: Chondrocalcinosis |
MouseDO ClinVar |
PMID:12297987 |
RGD:734570 |
NCBI chr 2:80,131,563...80,256,948
Ensembl chr 2:80,131,563...80,256,954
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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 2:80,267,724...80,293,204
Ensembl chr 2:80,269,587...80,293,181
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Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8035395 |
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NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Ankh |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
ClinVar Annotator: match by term: CALCIUM PYROPHOSPHATE DIHYDRATE DEPOSITION DISEASE 2 ClinVar Annotator: match by term: Calcium gout ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:118600 |
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 |
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NCBI chr 2:80,131,563...80,256,948
Ensembl chr 2:80,131,563...80,256,954
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Otulin |
OTU deubiquitinase with linear linkage specificity |
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ISO |
ClinVar Annotator: match by term: Chondrocalcinosis 2 ClinVar Annotator: match by term: Calcium gout |
ClinVar |
PMID:2712793 PMID:11326272 PMID:19449425 PMID:28492532 |
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NCBI chr 2:80,267,724...80,293,204
Ensembl chr 2:80,269,587...80,293,181
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Bpnt2 |
3'(2'), 5'-bisphosphate nucleotidase 2 |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, GPAPP type ClinVar Annotator: match by OMIM:614078 |
OMIM ClinVar |
PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:28492532 |
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NCBI chr17:90,191,119...90,218,013
Ensembl chr17:90,188,043...90,218,013 Ensembl chr 5:90,188,043...90,218,013
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Gle1 |
GLE1 RNA export mediator |
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ISO |
ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease ClinVar Annotator: match by OMIM:611890 |
OMIM ClinVar |
PMID:7770128 PMID:16892327 PMID:18204449 PMID:24243016 PMID:24961629 PMID:25741868 PMID:27684565 PMID:28492532 PMID:28657126 PMID:28884921 PMID:29899397 |
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NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
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Fbn2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Congenital contractural arachnodactyly ClinVar Annotator: match by OMIM:121050 ClinVar Annotator: match by null |
ClinVar OMIM |
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 PMID:8900230 PMID:9106527 PMID:9199560 PMID:9737771 PMID:10612827 PMID:10797416 PMID:11285249 PMID:11470817 PMID:11754102 PMID:15121784 PMID:16677079 PMID:16835936 PMID:17345643 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:25326637 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:27196565 PMID:28492532 PMID:29907982 PMID:29926239 PMID:30675029 PMID:31316167, PMID:11754102 |
RGD:1300364 |
NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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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 |
ClinVar OMIM |
PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:26938784 PMID:27681385 PMID:28454995 PMID:30167850 |
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NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
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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 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
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Adamtsl2 |
ADAMTS-like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
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NCBI chr 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
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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 chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
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Col1a1 |
collagen type I alpha 1 chain |
treatment |
IEP |
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RGD |
PMID:26097527 |
RGD:11041578 |
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Col3a1 |
collagen type III alpha 1 chain |
treatment |
IEP |
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RGD |
PMID:26097527 |
RGD:11041578 |
NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
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Drg1 |
developmentally regulated GTP binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr14:83,460,540...83,476,568
Ensembl chr14:83,460,540...83,476,568
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Ergic1 |
endoplasmic reticulum-golgi intermediate compartment 1 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr10:16,821,393...16,912,050
Ensembl chr10:16,821,880...16,910,641
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Fat1 |
FAT atypical cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
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Fgfrl1 |
fibroblast growth factor receptor-like 1 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr14:2,020,110...2,032,169
Ensembl chr14:2,018,500...2,032,593
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Flii |
FLII, actin remodeling protein |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr10:46,955,460...46,969,468
Ensembl chr10:46,955,487...46,969,406
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Gldn |
gliomedin |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
PMID:25741868 PMID:28726266 |
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NCBI chr 8:58,870,516...58,914,605
Ensembl chr 8:58,870,516...58,914,603
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Hoxa11 |
homeobox A11 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr 4:82,296,888...82,301,419
Ensembl chr 4:82,298,152...82,300,503 Ensembl chr 4:82,298,152...82,300,503
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Mid1ip1 |
MID1 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr X:13,114,557...13,119,274
Ensembl chr X:13,114,569...13,116,743
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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 1:100,506,704...100,530,201
Ensembl chr 1:100,506,704...100,530,183
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Myh7b |
myosin heavy chain 7B |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
PMID:26752647 |
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NCBI chr 3:151,105,038...151,150,621
Ensembl chr 3:151,126,591...151,150,344
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Myo9a |
myosin IXA |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
PMID:26752647 |
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NCBI chr 8:64,573,248...64,777,607
Ensembl chr 8:64,573,358...64,777,543
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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 chr16:79,587,136...79,672,871
Ensembl chr16:79,587,640...79,671,719
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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 5:154,109,293...154,159,943
Ensembl chr 5:154,112,076...154,159,601
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G |
Nr2c1 |
nuclear receptor subfamily 2, group C, member 1 |
|
ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr 7:35,069,807...35,122,810
Ensembl chr 7:35,069,814...35,122,796
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
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NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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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 5:161,769,587...161,879,150
Ensembl chr 5:161,770,653...161,879,133
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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 chr13:67,672,588...67,688,902
Ensembl chr13:67,672,878...67,688,477
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G |
Psd3 |
pleckstrin and Sec7 domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
PMID:26752647 |
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NCBI chr16:23,212,165...23,789,414
Ensembl chr16:23,447,366...23,781,604
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G |
Ryr3 |
ryanodine receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
PMID:28492532 PMID:29498452 |
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NCBI chr 3:104,117,307...104,665,151
Ensembl chr 3:104,118,063...104,504,204
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G |
Slc26a2 |
solute carrier family 26 member 2 |
|
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 chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
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G |
Spast |
spastin |
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ISO |
ClinVar Annotator: match by term: Contractures |
ClinVar |
PMID:10699187 PMID:11809724 PMID:11843700 PMID:15841487 PMID:20214791 PMID:20718791 PMID:20932283 PMID:22960362 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
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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 1:84,168,494...84,254,679
Ensembl chr 1:84,168,495...84,254,645
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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 chr13:51,569,248...51,577,824
Ensembl chr13:51,534,025...51,578,052
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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 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
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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 6:26,867,638...26,875,384
Ensembl chr 6:26,866,737...26,875,376
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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 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
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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 chr11:83,104,912...83,323,606
Ensembl chr11:83,105,064...83,300,409
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G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 8 ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A |
ClinVar OMIM |
PMID:18470895 PMID:25741868 PMID:25957469 PMID:27381093 PMID:29314551 PMID:29805041 |
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NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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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:29805041 |
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NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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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 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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G |
Cant1 |
calcium activated nucleotidase 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois Dysplasia CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
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G |
Xylt1 |
xylosyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
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G |
Cant1 |
calcium activated nucleotidase 1 |
|
ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
OMIM ClinVar |
PMID:19853239 PMID:20358597 PMID:20358610 PMID:21037275 PMID:21412251 PMID:21654728 PMID:22539336 PMID:25741868 PMID:28492532 PMID:28742282 PMID:31988067 |
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NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
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G |
Xylt1 |
xylosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:16571645 PMID:16759312 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28462984 PMID:28492532 |
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NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
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G |
Xylt1 |
xylosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 2 |
ClinVar OMIM |
PMID:22711505 PMID:23982343 PMID:24581741 PMID:28462984 PMID:28492532 PMID:30554721 |
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NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
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G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
ClinVar Annotator: match by term: Digital arthropathy-brachydactyly, familial ClinVar Annotator: match by OMIM:606835 |
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:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26467025 PMID:28492532 |
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NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
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G |
Ecel1 |
endothelin converting enzyme-like 1 |
|
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 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
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G |
Fbn2 |
fibrillin 2 |
|
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 chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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G |
Klhl7 |
kelch-like family member 7 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:18414213 PMID:25741868 PMID:29074562 |
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NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
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G |
Mybpc1 |
myosin binding protein C1 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:29,086,159...29,171,909
Ensembl chr 7:29,086,156...29,171,783
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G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
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NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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G |
Mylpf |
myosin light chain, phosphorylatable, fast skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:32707087 |
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NCBI chr 1:198,655,835...198,658,590
Ensembl chr 1:198,655,742...198,658,583
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G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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G |
Tnni2 |
troponin I2, fast skeletal type |
|
ISO ISS |
ClinVar Annotator: match by term: Distal arthrogryposis ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal 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 MouseDO |
PMID:12592607 PMID:17101001 PMID:25741868 |
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NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
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G |
Tnnt3 |
troponin T3, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
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G |
Ush2a |
usherin |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:22581970 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 |
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NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
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G |
Cntnap1 |
contactin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1A |
ClinVar |
PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 |
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NCBI chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1A |
ClinVar |
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NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1A |
ClinVar |
PMID:25741868 |
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NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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G |
Myh8 |
myosin heavy chain 8 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1A |
ClinVar |
PMID:25741868 |
|
NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
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G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1A |
OMIM ClinVar |
PMID:7977374 PMID:11738357 PMID:12592607 PMID:17194691 PMID:17846275 PMID:18414213 PMID:18420702 PMID:18422639 PMID:19047562 PMID:22084935 PMID:22832343 PMID:22980765 PMID:23689010 PMID:23757202 PMID:23886664 PMID:24033266 PMID:24039757 PMID:24657080 PMID:24692096 PMID:25741868 PMID:25978979 PMID:26467025 PMID:26752647 PMID:28492532 |
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NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
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G |
Mybpc1 |
myosin binding protein C1 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1B ClinVar Annotator: match by OMIM:614335 |
OMIM ClinVar |
PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 PMID:25741868 PMID:26287277 PMID:28492532 |
|
NCBI chr 7:29,086,159...29,171,909
Ensembl chr 7:29,086,156...29,171,783
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G |
Mylpf |
myosin light chain, phosphorylatable, fast skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 1C |
OMIM ClinVar |
PMID:32707087 |
|
NCBI chr 1:198,655,835...198,658,590
Ensembl chr 1:198,655,742...198,658,583
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G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
|
OMIM |
|
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NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
DNA:missense mutation:exon:p.A234T (769C>T) (human) ClinVar Annotator: match by term: Distal arthrogryposis type 2B |
ClinVar |
PMID:16642020 PMID:18414213 PMID:19142688 PMID:25741868 PMID:28492532 PMID:28779239 PMID:29805041, PMID:18695058 |
RGD:12792960 |
NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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G |
Tnni2 |
troponin I2, fast skeletal type |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Distal arthrogryposis type 2B |
CTD ClinVar |
PMID:12592607 PMID:17101001 PMID:23850728 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
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G |
Tnnt3 |
troponin T3, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 2B ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B |
ClinVar |
PMID:10525521 PMID:12865991 PMID:18414213 PMID:19142688 PMID:21402185 PMID:25337069 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
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G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 2B |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
|
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G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 |
ClinVar |
PMID:25741868 |
|
NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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G |
Tnni2 |
troponin I2, fast skeletal type |
|
ISO |
|
OMIM |
|
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NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
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G |
Tnnt3 |
troponin T3, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 |
ClinVar OMIM |
PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:25337069 PMID:25741868 |
|
NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
|
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G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 |
OMIM ClinVar |
PMID:16642020 PMID:18695058 PMID:25741868 PMID:28492532 PMID:29625835 PMID:29805041 PMID:30826400 |
|
NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
|
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G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B4 |
ClinVar |
PMID:17339586 PMID:23678273 PMID:27726070 PMID:30285720 |
|
NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
|
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA ClinVar Annotator: match by OMIM:114300 |
OMIM ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:30285720 PMID:31680123 |
|
NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
|
|
|
G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis with oculomotor limitation and electroretinal abnormalities ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome ClinVar Annotator: match by term: Oculomelic amyoplasia ClinVar Annotator: match by OMIM:108145 |
OMIM ClinVar |
PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 PMID:23487782 PMID:24726473 PMID:25741868 PMID:27714920 PMID:31680123 PMID:32860008 |
|
NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
|
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G |
Ecel1 |
endothelin converting enzyme-like 1 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 5D ClinVar Annotator: match by term: Arthrogryposis, distal, type 5d ClinVar Annotator: match by OMIM:615065 |
OMIM ClinVar |
PMID:23236030 PMID:23261301 PMID:25099528 PMID:25741868 PMID:26752647 |
|
NCBI chr 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
|
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G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Beals-Hecht syndrome ClinVar Annotator: match by term: Hecht syndrome |
ClinVar |
PMID:3495735 PMID:4750422 PMID:8653794 PMID:11754102 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:22325249 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:28492532 PMID:29926239 |
|
NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
|
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G |
Myh8 |
myosin heavy chain 8 |
|
ISO |
ClinVar Annotator: match by term: Hecht syndrome DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human) ClinVar Annotator: match by OMIM:158300 |
OMIM ClinVar |
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 |
RGD:12914760 |
NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
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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 |
ClinVar OMIM |
PMID:25741868 PMID:27607563 PMID:27653382 PMID:27843126 PMID:27974811 PMID:28492532 PMID:31680123 |
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NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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Dse |
dermatan sulfate epimerase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 ClinVar Annotator: match by OMIM:615539 |
OMIM ClinVar |
PMID:23704329 PMID:25703627 PMID:28492532 |
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NCBI chr20:27,703,738...27,784,982
Ensembl chr20:27,703,732...27,782,586
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A2m |
alpha-2-macroglobulin |
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IEP |
protein:increased expression:serum |
RGD |
PMID:6163339 |
RGD:10046032 |
NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
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G |
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 |
PMID:17827786, PMID:19152228, PMID:17827786 |
RGD:2315573, RGD:11040994 |
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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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 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
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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 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
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Acan |
aggrecan |
treatment |
IEP |
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RGD |
PMID:25821409 |
RGD:12879456 |
NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
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Ace |
angiotensin I converting enzyme |
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IEP |
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RGD |
PMID:20213806 |
RGD:2325221 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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G |
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 chr16:48,937,456...49,003,898
Ensembl chr16:48,937,456...49,003,246
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G |
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:113,596,247...113,660,024
Ensembl chr X:113,596,239...113,659,944
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G |
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 1:276,240,703...276,290,012
Ensembl chr 1:276,240,703...276,290,008
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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 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
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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 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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IEP ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23326410, PMID:21681567, PMID:19026984 |
RGD:5685385, RGD:5686814 |
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Adk |
adenosine kinase |
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IMP |
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RGD |
PMID:11160636 |
RGD:6482663 |
NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
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G |
Ahcy |
adenosylhomocysteinase |
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IDA |
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RGD |
PMID:11123369 |
RGD:1598898 |
NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
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G |
Ahr |
aryl hydrocarbon receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25194622 |
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NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
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G |
Akt1 |
AKT serine/threonine kinase 1 |
treatment |
IDA |
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RGD |
PMID:22391142 |
RGD:10041007 |
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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G |
Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20472598 |
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NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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G |
Alox15 |
arachidonate 15-lipoxygenase |
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ISO |
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RGD |
PMID:19675173 |
RGD:5509599 |
NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
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G |
Anxa1 |
annexin A1 |
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IMP ISO |
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RGD |
PMID:10403283, PMID:23267026 |
RGD:2306928, RGD:7421573 |
NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
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G |
Aoc3 |
amine oxidase, copper containing 3 |
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IMP |
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RGD |
PMID:16947396 |
RGD:2313925 |
NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
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G |
Apoa4 |
apolipoprotein A4 |
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IEP |
protein:decreased expression:blood serum (rat) |
RGD |
PMID:10892728 |
RGD:5685694 |
NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
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G |
Arrb1 |
arrestin, beta 1 |
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IEP |
protein:increased expression:knee, synoviocyte (rat) |
RGD |
PMID:20965243 |
RGD:5509895 |
NCBI chr 1:164,502,099...164,573,947
Ensembl chr 1:164,502,389...164,593,139
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G |
Arrb2 |
arrestin, beta 2 |
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IEP |
protein:increased expression:knee, synoviocyte (rat) |
RGD |
PMID:20965243 |
RGD:5509895 |
NCBI chr10:57,040,252...57,048,045
Ensembl chr10:57,040,267...57,048,134
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G |
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 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:21199477, PMID:22978269 |
RGD:10054249, RGD:10054498 |
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:21199477, PMID:22978269 |
RGD:10054249, RGD:10054498 |
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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G |
Bdkrb1 |
bradykinin receptor B1 |
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IMP |
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RGD |
PMID:15001555 |
RGD:1625760 |
NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
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G |
Bglap |
bone gamma-carboxyglutamate protein |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:21406003 |
RGD:6483549 |
NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
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G |
Btk |
Bruton tyrosine kinase |
treatment |
IMP |
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RGD |
PMID:22228807 |
RGD:11040701 |
NCBI chr X:105,360,922...105,390,580
Ensembl chr X:105,360,922...105,390,580
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G |
C3 |
complement C3 |
treatment |
ISO IDA |
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RGD |
PMID:20051658, PMID:7347767 |
RGD:7411688, RGD:11041098 |
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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G |
C5 |
complement C5 |
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ISO IMP |
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RGD |
PMID:20975959, PMID:12355496 |
RGD:5130175, RGD:1600637 |
NCBI chr 3:14,049,993...14,113,931 NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
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G |
Cabin1 |
calcineurin binding protein 1 |
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ISO |
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RGD |
PMID:22275266 |
RGD:10054391 |
NCBI chr20:13,836,032...13,963,003
Ensembl chr20:13,836,030...13,963,003
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G |
Calca |
calcitonin-related polypeptide alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16690336 |
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NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
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G |
Cat |
catalase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22450443 |
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NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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G |
Cbl |
Cbl proto-oncogene |
treatment |
IDA |
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RGD |
PMID:16984225 |
RGD:2306289 |
NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
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G |
Cblb |
Cbl proto-oncogene B |
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IMP |
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RGD |
PMID:16984225 |
RGD:2306289 |
NCBI chr11:51,037,383...51,202,761
Ensembl chr11:51,037,393...51,202,820
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
IMP IDA IEP |
mRNA, protein:increased expression:synovium |
RGD |
PMID:18292571, PMID:24583103, PMID:18726678, PMID:17052673 |
RGD:2307052, RGD:11526142, RGD:2307008, RGD:2307143 |
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
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IEP |
mRNA, protein:increased expression:synovium, monocytes |
RGD |
PMID:17052673 |
RGD:2307143 |
NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
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G |
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 chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
onset |
ISO |
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RGD |
PMID:17178563 |
RGD:6483780 |
NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
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G |
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 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
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IEP |
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RGD |
PMID:16320322 |
RGD:4144893 |
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G |
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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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G |
Cd28 |
Cd28 molecule |
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IEP |
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RGD |
PMID:18601859 |
RGD:2307202 |
NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
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G |
Cd4 |
Cd4 molecule |
treatment |
ISO IMP |
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RGD |
PMID:15479897, PMID:12010568 |
RGD:10058957, RGD:10058960 |
NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
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G |
Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:20435931 |
RGD:5490544 |
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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G |
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:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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G |
Cd44 |
CD44 molecule (Indian blood group) |
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IEP |
protein:increased expression:joint, macrophage, lymphocyte |
RGD |
PMID:8639178 |
RGD:2289388 |
NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
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G |
Cd46 |
CD46 molecule |
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ISO |
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RGD |
PMID:21852528 |
RGD:6483461 |
NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
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G |
Cd59 |
CD59 molecule |
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IDA |
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RGD |
PMID:14519760 |
RGD:1600483 |
NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
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G |
Cd69 |
Cd69 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12882836 |
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NCBI chr 4:163,041,147...163,049,065
Ensembl chr 4:163,041,141...163,049,084
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G |
Cd80 |
Cd80 molecule |
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ISO |
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RGD |
PMID:22004797 |
RGD:6902903 |
NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
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G |
Cdc42 |
cell division cycle 42 |
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ISO |
protein:increased activation:bone marrow, macrophage |
RGD |
PMID:21266780 |
RGD:5688271 |
NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
treatment |
ISO |
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RGD |
PMID:10395320 |
RGD:8552686 |
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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G |
Cfh |
complement factor H |
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ISO |
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RGD |
PMID:19828624 |
RGD:5684557 |
NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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G |
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 |
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NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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G |
Cp |
ceruloplasmin |
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IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19330884, PMID:19205849 |
RGD:2314686 |
NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
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G |
Cpox |
coproporphyrinogen oxidase |
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IEP |
protein:decreased activity:liver (rat) |
RGD |
PMID:9173682 |
RGD:1600958 |
NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648
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G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
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IMP |
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RGD |
PMID:17550594 |
RGD:1626231 |
NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
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G |
Crp |
C-reactive protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19330884 |
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NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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G |
Csf3 |
colony stimulating factor 3 |
treatment |
ISO |
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RGD |
PMID:12742377 |
RGD:11039465 |
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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G |
Csk |
C-terminal Src kinase |
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IMP |
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RGD |
PMID:10411542 |
RGD:5134371 |
NCBI chr 8:62,405,714...62,424,707
Ensembl chr 8:62,405,715...62,424,303
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G |
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 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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G |
Ctsb |
cathepsin B |
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IEP |
mRNA:increased expression:knee joint, synovium (rat) |
RGD |
PMID:17195213 |
RGD:2315521 |
NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
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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 2:196,655,469...196,666,447
Ensembl chr 2:196,655,469...196,666,446
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G |
Ctss |
cathepsin S |
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ISO |
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RGD |
PMID:21439785 |
RGD:5686915 |
NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
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IEP |
|
RGD |
PMID:11465708 |
RGD:4892002 |
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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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 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
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IEP |
|
RGD |
PMID:19096963 |
RGD:4889415 |
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
severity |
IMP |
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RGD |
PMID:10358204 |
RGD:5135272 |
NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
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G |
Dhodh |
dihydroorotate dehydrogenase (quinone) |
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IMP |
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RGD |
PMID:15182735 |
RGD:2316231 |
NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25194984 |
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NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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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 chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
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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 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
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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 chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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G |
Egfr |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7589090 |
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NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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G |
Esr1 |
estrogen receptor 1 |
treatment |
ISO |
associated with Osteoporosis |
RGD |
PMID:20112355 |
RGD:10045851 |
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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G |
Esr2 |
estrogen receptor 2 |
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IDA |
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RGD |
PMID:16269464 |
RGD:5508854 |
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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G |
F2 |
coagulation factor II |
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ISO |
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RGD |
PMID:21436072 |
RGD:5147764 |
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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G |
F2r |
coagulation factor II (thrombin) receptor |
severity |
ISO |
|
RGD |
PMID:19674841 |
RGD:7387269 |
NCBI chr 2:26,118,760...26,135,340
Ensembl chr 2:26,118,760...26,135,340
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G |
F2rl1 |
F2R like trypsin receptor 1 |
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ISO |
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RGD |
PMID:12511586 |
RGD:735010 |
NCBI chr 2:25,222,324...25,235,275
Ensembl chr 2:25,222,328...25,235,275
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G |
Faslg |
Fas ligand |
treatment |
IMP |
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RGD |
PMID:22354915 |
RGD:7204500 |
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
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G |
Fcgr1a |
Fc fragment of IgG receptor Ia |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12875993, PMID:16670289 |
RGD:9685708 |
NCBI chr 2:198,430,536...198,439,453
Ensembl chr 2:198,430,530...198,458,041
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G |
Fcgr2a |
Fc fragment of IgG receptor IIa |
onset |
ISO |
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RGD |
PMID:18354234, PMID:16623928 |
RGD:5508446, RGD:5508457 |
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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G |
Fcgr2b |
Fc fragment of IgG receptor IIb |
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ISO |
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RGD |
PMID:23341540 |
RGD:11344930 |
NCBI chr13:89,329,298...89,343,916
Ensembl chr13:89,327,794...89,433,815
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G |
Fgf8 |
fibroblast growth factor 8 |
|
IMP |
|
RGD |
PMID:18699993 |
RGD:2314157 |
NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
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RGD |
PMID:22833219 |
RGD:10402072 |
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
|
RGD |
PMID:19180491 |
RGD:6483591 |
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
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IAGP |
|
RGD |
PMID:10857786 |
RGD:61066 |
NCBI chr12:9,360,439...9,437,004
Ensembl chr12:9,360,672...9,436,570
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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:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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G |
Gja1 |
gap junction protein, alpha 1 |
|
IMP |
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RGD |
PMID:23165424 |
RGD:7207259 |
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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G |
Gli1 |
GLI family zinc finger 1 |
treatment |
IEP |
|
RGD |
PMID:25821409 |
RGD:12879456 |
NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
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G |
Gpi |
glucose-6-phosphate isomerase |
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ISO |
|
RGD |
PMID:23911657 |
RGD:11051957 |
NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
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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 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
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G |
Grn |
granulin precursor |
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ISO |
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RGD |
PMID:21393509 |
RGD:5509782 |
NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
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G |
Gsk3b |
glycogen synthase kinase 3 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16713974 |
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NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
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G |
Havcr2 |
hepatitis A virus cellular receptor 2 |
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IEP |
mRNA,protein:altered expression:bone: |
RGD |
PMID:25264706 |
RGD:9686117 |
NCBI chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943
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G |
Hdac6 |
histone deacetylase 6 |
treatment |
ISO |
|
RGD |
PMID:23541634 |
RGD:9681550 |
NCBI chr X:15,295,372...15,316,673
Ensembl chr X:15,295,473...15,316,671
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
treatment |
IDA |
|
RGD |
PMID:21679445 |
RGD:8693318 |
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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G |
Hmgb1 |
high mobility group box 1 |
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IEP |
protein:altered localization:cytoplasm, extracellular matrix |
RGD |
PMID:12384917 |
RGD:728698 |
NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
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ISO |
|
RGD |
PMID:17119970 |
RGD:5508468 |
NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
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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 chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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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 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
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G |
Ifng |
interferon gamma |
|
IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19203382 PMID:22450443, PMID:12412757, PMID:7774621 |
RGD:2311498, RGD:10755750 |
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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G |
Igf1 |
insulin-like growth factor 1 |
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IEP |
protein:decreased expression:plasma |
RGD |
PMID:19246225 |
RGD:2306697 |
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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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 chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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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 chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
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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:156,254,187...156,280,046
Ensembl chr X:156,257,173...156,270,748
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G |
Il10 |
interleukin 10 |
treatment |
IEP ISO IDA |
CTD Direct Evidence: marker/mechanism|therapeutic protein:decreased expression:serum: |
CTD |
PMID:20974942 PMID:22450443, PMID:19193354, PMID:19169271, PMID:23140046, PMID:22052031, PMID:15270736 |
RGD:2311059, RGD:8662976, RGD:7193038, RGD:7364838, RGD:1626677 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Il13 |
interleukin 13 |
treatment |
ISO IMP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:10444273, PMID:17665443, PMID:11860705 |
RGD:4889497, RGD:8549606 |
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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G |
Il15 |
interleukin 15 |
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ISO |
|
RGD |
PMID:20188418 |
RGD:5000761 |
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
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G |
Il17a |
interleukin 17A |
treatment |
IMP ISO IEP IDA |
CTD Direct Evidence: marker/mechanism protein:increased expression:serum (rat) |
CTD |
PMID:20974942, PMID:20925596, PMID:23377547, PMID:21194185, PMID:20925596 |
RGD:4781444, RGD:9130803, RGD:9068936, RGD:4781444 |
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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G |
Il18 |
interleukin 18 |
disease_progression |
IEP IMP |
|
RGD |
PMID:19096963, PMID:15147345 |
RGD:4889415, RGD:4889503 |
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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G |
Il1b |
interleukin 1 beta |
treatment |
IDA IEP ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:serum (rat) |
CTD |
PMID:19330884 PMID:20131233 PMID:20974942 PMID:22450443, PMID:21557995, PMID:29408684, PMID:24028507, PMID:23140046 |
RGD:7175317, RGD:13792834, RGD:10755447, RGD:7193038 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20472598 |
|
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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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 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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G |
Il20 |
interleukin 20 |
|
IMP |
|
RGD |
PMID:20722035 |
RGD:5147393 |
NCBI chr13:47,644,071...47,651,487
Ensembl chr13:47,644,071...47,647,715
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
|
IDA |
|
RGD |
PMID:17928458 |
RGD:2325988 |
NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
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G |
Il33 |
interleukin 33 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20472598 |
|
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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G |
Il4 |
interleukin 4 |
treatment |
IMP ISO IEP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:10444273, PMID:16869003, PMID:23972727, PMID:23140046 |
RGD:2317300, RGD:10402790, RGD:7193038 |
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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G |
Il6 |
interleukin 6 |
treatment |
IEP ISO IDA IMP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20131233 PMID:20974942 PMID:22450443, PMID:24028507, PMID:8607900, PMID:10381487, PMID:23503893 |
RGD:10755447, RGD:11060267, RGD:11049553, RGD:11049551 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Il6st |
interleukin 6 cytokine family signal transducer |
|
ISO |
|
RGD |
PMID:20626857 |
RGD:5509945 |
NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
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G |
Itga4 |
integrin subunit alpha 4 |
treatment |
IMP |
|
RGD |
PMID:12969328 |
RGD:9698440 |
NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
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G |
Itgb2 |
integrin subunit beta 2 |
|
IMP |
|
RGD |
PMID:8881759 |
RGD:6482229 |
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
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G |
Itgb3 |
integrin subunit beta 3 |
|
IMP |
protein:increased expression:endothelial cell |
RGD |
PMID:16869003 |
RGD:2317300 |
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
|
RGD |
PMID:19265135 |
RGD:6482234 |
NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
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G |
Jak1 |
Janus kinase 1 |
treatment |
IMP |
|
RGD |
PMID:29452839 |
RGD:19165139 |
NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
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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 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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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 chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
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G |
Klkb1 |
kallikrein B1 |
|
IMP IEP |
|
RGD |
PMID:22739815, PMID:9783057 |
RGD:7297047, RGD:7327138 |
NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
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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 chr11:81,509,185...81,516,759
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G |
Kyat1 |
kynurenine aminotransferase 1 |
|
IMP |
|
RGD |
PMID:16984225 |
RGD:2306289 |
NCBI chr 3:8,752,289...8,785,617
Ensembl chr 3:8,752,625...8,766,433
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G |
Lep |
leptin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15142272 |
|
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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G |
Lgals3 |
galectin 3 |
|
IEP |
|
RGD |
PMID:16507131 |
RGD:1625684 |
NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
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G |
Map3k5 |
mitogen-activated protein kinase kinase kinase 5 |
|
ISO |
|
RGD |
PMID:16331767 |
RGD:10412332 |
NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
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G |
Mif |
macrophage migration inhibitory factor |
|
IDA |
|
RGD |
PMID:10765927 |
RGD:1642012 |
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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G |
Mir152 |
microRNA 152 |
|
ISO IEP |
CTD Direct Evidence: marker/mechanism miRNA:decreased exression:synovial membrane of synovial joint |
CTD |
PMID:25194984, PMID:25194984 |
RGD:21066343 |
NCBI chr10:84,719,319...84,719,403
Ensembl chr10:84,719,319...84,719,403
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G |
Mir26a |
microRNA 26a |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24423102 |
|
NCBI chr 8:127,714,441...127,714,530
Ensembl chr 8:127,714,441...127,714,530
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
IDA IEP |
|
RGD |
PMID:21288455, PMID:24011916, PMID:21108488 |
RGD:7207362, RGD:8549748, RGD:7207365 |
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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G |
Mmp13 |
matrix metallopeptidase 13 |
treatment |
IEP IDA |
|
RGD |
PMID:24244039, PMID:11435459 |
RGD:8694124, RGD:1582329 |
NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
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G |
Mmp3 |
matrix metallopeptidase 3 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:ankle joint |
CTD |
PMID:20974942, PMID:20703013, PMID:24244039, PMID:24244039, PMID:24011916, PMID:21679445 |
RGD:7241231, RGD:8694124, RGD:8694124, RGD:8549748, RGD:8693318 |
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
IEP |
protein:increased expression:cartilage, serum, synovial fluid |
RGD |
PMID:17463159 |
RGD:1642035 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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G |
Mpo |
myeloperoxidase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22450443 |
|
NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
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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 |
|
RGD |
PMID:22391142 |
RGD:10041007 |
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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|
G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
|
ISO |
|
RGD |
PMID:20131263 |
RGD:8552884 |
NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
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|
G |
Myod1 |
myogenic differentiation 1 |
treatment |
IEP |
|
RGD |
PMID:23781298 |
RGD:9686078 |
NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
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|
G |
Myog |
myogenin |
treatment |
IDA |
|
RGD |
PMID:23781298 |
RGD:9686078 |
NCBI chr13:51,126,459...51,129,048
Ensembl chr13:51,126,459...51,129,048
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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 chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
ISO |
|
RGD |
PMID:21424514, PMID:20131263 |
RGD:5508728, RGD:8552884 |
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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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 chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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G |
Nos3 |
nitric oxide synthase 3 |
treatment |
IEP |
|
RGD |
PMID:29337196 |
RGD:13504725 |
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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|
G |
Npsr1 |
neuropeptide S receptor 1 |
treatment |
IMP |
|
RGD |
PMID:24884567 |
RGD:9831205 |
NCBI chr 8:25,246,174...25,483,582
Ensembl chr 8:25,246,292...25,482,647
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|
G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
severity |
ISO |
|
RGD |
PMID:16905546 |
RGD:11073695 |
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
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G |
Nr1h2 |
nuclear receptor subfamily 1, group H, member 2 |
|
ISO |
|
RGD |
PMID:21859686 |
RGD:6480864 |
NCBI chr 1:100,554,577...100,559,896
Ensembl chr 1:100,554,544...100,559,942
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G |
Nr1h3 |
nuclear receptor subfamily 1, group H, member 3 |
|
ISO |
|
RGD |
PMID:21859686 |
RGD:6480864 |
NCBI chr 3:80,004,130...80,014,197
Ensembl chr 3:80,004,130...80,012,750
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G |
Nras |
NRAS proto-oncogene, GTPase |
|
IEP |
|
RGD |
PMID:18706093 |
RGD:2300006 |
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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G |
Nts |
neurotensin |
|
IEP |
|
RGD |
PMID:8518953 |
RGD:9743903 |
NCBI chr 7:44,111,594...44,120,998
Ensembl chr 7:44,111,151...44,121,130
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G |
Orm1 |
orosomucoid 1 |
|
IEP |
protein:increased expression:liver |
RGD |
PMID:16166348 |
RGD:2316639 |
NCBI chr 5:79,179,668...79,182,820
Ensembl chr 5:79,179,417...79,182,820
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G |
P2ry12 |
purinergic receptor P2Y12 |
|
IMP |
|
RGD |
PMID:22028806 |
RGD:6480518 |
NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
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G |
Pam |
peptidylglycine alpha-amidating monooxygenase |
|
IDA |
|
RGD |
PMID:17138865 |
RGD:6483527 |
NCBI chr 9:111,028,543...111,177,588
Ensembl chr 9:111,028,575...111,177,602
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|
G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
severity |
ISO |
|
RGD |
PMID:16356201 |
RGD:5684009 |
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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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 chr10:94,850,971...94,913,202
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G |
Pgf |
placental growth factor |
|
ISO |
|
RGD |
PMID:19180491 |
RGD:6483591 |
NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
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G |
Pik3cd |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta |
|
ISO |
|
RGD |
PMID:18412166 |
RGD:6482696 |
NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
|
ISO |
|
RGD |
PMID:20374644, PMID:18412166 |
RGD:6482684, RGD:6482696 |
NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
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G |
Plau |
plasminogen activator, urokinase |
|
ISO |
|
RGD |
PMID:20973954 |
RGD:6483801 |
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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G |
Ptch1 |
patched 1 |
treatment |
IEP |
|
RGD |
PMID:25821409 |
RGD:12879456 |
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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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 |
PMID:18287210, PMID:20423341, PMID:11207665, PMID:18287210 |
RGD:10003041, RGD:10043377, RGD:10003052 |
NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
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G |
Ptges |
prostaglandin E synthase |
|
IEP |
mRNA, protein:increased expression:paw |
RGD |
PMID:12707354 |
RGD:2300108 |
NCBI chr 3:9,727,408...9,738,752
Ensembl chr 3:9,727,408...9,738,752
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G |
Ptges3 |
prostaglandin E synthase 3 |
|
IEP |
mRNA:increased expression:paw (rat) |
RGD |
PMID:12707354 |
RGD:2300108 |
NCBI chr 7:2,479,267...2,497,024
Ensembl chr 7:2,479,311...2,497,013
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G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
|
IEP |
mRNA, protein:increased expression:synovium |
RGD |
PMID:22289897 |
RGD:5687744 |
NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
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 chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
|
IEP |
protein:increased expression:metatarsophalangeal joint, mononuclear cell (rat) |
RGD |
PMID:24998229 |
RGD:11532752 |
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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G |
Rag2 |
recombination activating 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20974942 |
|
NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
|
RGD |
PMID:21665435, PMID:19950279 |
RGD:5147558, RGD:5147586 |
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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G |
S100a8 |
S100 calcium binding protein A8 |
|
IEP |
|
RGD |
PMID:8343166 |
RGD:633930 |
NCBI chr 2:190,073,239...190,074,333
Ensembl chr 2:190,073,815...190,074,354
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G |
S100a9 |
S100 calcium binding protein A9 |
|
IEP |
|
RGD |
PMID:8343166 |
RGD:633930 |
NCBI chr 2:190,097,436...190,100,209
Ensembl chr 2:190,097,554...190,100,276
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G |
Serpinc1 |
serpin family C member 1 |
|
IEP |
protein:decreased expression:plasma |
RGD |
PMID:22781611 |
RGD:11035273 |
NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
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G |
Sfrp4 |
secreted frizzled-related protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25194984 |
|
NCBI chr17:47,383,983...47,394,065
Ensembl chr17:47,297,489...47,394,328
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|
G |
Shh |
sonic hedgehog signaling molecule |
treatment |
IEP |
|
RGD |
PMID:25821409 |
RGD:12879456 |
NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
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|
G |
Slc11a1 |
solute carrier family 11 member 1 |
severity |
ISO |
|
RGD |
PMID:17122779 |
RGD:5684943 |
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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|
G |
Slpi |
secretory leukocyte peptidase inhibitor |
treatment |
IEP |
protein:decreased expression:articular cartilage of joint |
RGD |
PMID:10449524, PMID:9744360 |
RGD:634208, RGD:9999431 |
NCBI chr 3:160,799,979...160,802,228
Ensembl chr 3:160,799,981...160,802,433
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|
G |
Smo |
smoothened, frizzled class receptor |
treatment |
IEP |
|
RGD |
PMID:25821409 |
RGD:12879456 |
NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
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G |
Socs3 |
suppressor of cytokine signaling 3 |
|
IEP |
mRNA:increased expression:mononuclear cell |
RGD |
PMID:16507131 |
RGD:1625684 |
NCBI chr10:106,973,863...106,976,969
Ensembl chr10:106,975,178...106,976,040
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|
G |
Spn |
sialophorin |
|
IMP |
associated with Staphylococcal Infections |
RGD |
PMID:7927732 |
RGD:2303983 |
NCBI chr 1:198,572,999...198,585,664
Ensembl chr 1:198,572,999...198,577,226
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|
G |
Stat1 |
signal transducer and activator of transcription 1 |
|
IDA ISO |
protein:increased tyrosine phosphorylation:macrophage, synovial cell CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15188379, PMID:14674010 |
RGD:1582346 |
NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
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|
G |
Stat3 |
signal transducer and activator of transcription 3 |
treatment |
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15188379 PMID:21937456, PMID:23711144 |
RGD:10403081 |
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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G |
Tac1 |
tachykinin, precursor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9259450 |
|
NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
IEP |
|
RGD |
PMID:29763498 |
RGD:15036801 |
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
IEP |
protein:increased expression:synovium |
RGD |
PMID:9010265 |
RGD:1601623 |
NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
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G |
Thbd |
thrombomodulin |
|
ISO |
|
RGD |
PMID:16879225 |
RGD:5685015 |
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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|
G |
Timp4 |
TIMP metallopeptidase inhibitor 4 |
|
IMP |
|
RGD |
PMID:12483743 |
RGD:2290463 |
NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
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G |
Tjp1 |
tight junction protein 1 |
|
IEP |
|
RGD |
PMID:18848892 |
RGD:2325138 |
NCBI chr 1:126,146,489...126,515,359
Ensembl chr 1:126,146,489...126,227,469
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|
G |
Tlr2 |
toll-like receptor 2 |
|
IEP ISO |
|
RGD |
PMID:21725847, PMID:20131263 |
RGD:7241099, RGD:8552884 |
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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|
G |
Tlr3 |
toll-like receptor 3 |
|
IEP IMP |
mRNA, protein:increased expression:spleen (rat) |
RGD |
PMID:20500834, PMID:20500834 |
RGD:5128706, RGD:5128706 |
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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|
G |
Tnf |
tumor necrosis factor |
treatment |
IDA IEP ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:serum: |
CTD |
PMID:7589090 PMID:9598899 PMID:19203382 PMID:19330884 PMID:19765281 PMID:20131233 PMID:20974942 PMID:21452922 PMID:22450443, PMID:23052485, PMID:29408684, PMID:24028507, PMID:24394943, PMID:19169271, PMID:21690068, PMID:23140046 |
RGD:7245941, RGD:13792834, RGD:10755447, RGD:10450611, RGD:8662976, RGD:8661761, RGD:7193038 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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|
G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
|
IEP ISO |
mRNA:decreased expression:bone CTD Direct Evidence: therapeutic |
CTD |
PMID:23333834, PMID:16696922 |
RGD:1624171 |
NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
treatment |
IDA IEP ISO |
|
RGD |
PMID:23052485, PMID:21690068, PMID:20370892 |
RGD:7245941, RGD:8661761, RGD:8661729 |
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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|
G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
treatment |
ISO IEP IDA |
human protein in rat model |
RGD |
PMID:21463515, PMID:21690068, PMID:23052485 |
RGD:5131255, RGD:8661761, RGD:7245941 |
NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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|
G |
Trpv2 |
transient receptor potential cation channel, subfamily V, member 2 |
treatment |
ISO |
|
RGD |
PMID:25869297 |
RGD:9999444 |
NCBI chr10:48,903,540...48,925,036
Ensembl chr10:48,903,540...48,925,030
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G |
Txndc5 |
thioredoxin domain containing 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23326410 |
|
NCBI chr17:26,925,828...26,953,981
Ensembl chr17:26,925,828...26,953,970
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9598899 PMID:26221077 |
|
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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G |
Vim |
vimentin |
|
IDA |
|
RGD |
PMID:7516431 |
RGD:6480480 |
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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|
G |
Vip |
vasoactive intestinal peptide |
|
ISO IDA |
|
RGD |
PMID:21998117, PMID:19055696 |
RGD:5685376, RGD:5685612 |
NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
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|
G |
Xdh |
xanthine dehydrogenase |
|
IEP |
protein:increased expression:brain, mitochondrion |
RGD |
PMID:25870945 |
RGD:13208957 |
NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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|
G |
Xylt1 |
xylosyltransferase 1 |
|
IEP |
mRNA:decreased expression:articular cartilage |
RGD |
PMID:19001053 |
RGD:2313142 |
NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
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|
|
G |
Acan |
aggrecan |
|
ISO |
|
OMIM |
|
|
NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
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|
|
G |
Acta1 |
actin, alpha 1, skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
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|
G |
Adssl1 |
adenylosuccinate synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 6:137,184,818...137,206,694
Ensembl chr 6:137,184,820...137,206,693
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|
G |
Aldh5a1 |
aldehyde dehydrogenase 5 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
|
|
G |
Asah1 |
N-acylsphingosine amidohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
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|
G |
Ascc1 |
activating signal cointegrator 1 complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:28749478 PMID:31680123 |
|
NCBI chr20:29,558,330...29,648,899
Ensembl chr20:29,558,689...29,648,893
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G |
Aspm |
assembly factor for spindle microtubules |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
|
|
G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr X:157,236,400...157,312,028
Ensembl chr X:157,239,306...157,312,028
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|
G |
Aven |
apoptosis and caspase activation inhibitor |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 3:103,980,612...104,117,193
Ensembl chr 3:104,042,168...104,117,192
|
|
G |
Chrnd |
cholinergic receptor nicotinic delta subunit |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
|
|
G |
Cntnap1 |
contactin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
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|
G |
Dok7 |
docking protein 7 |
|
ISO |
ClinVar Annotator: match by term: Pena-Shokeir syndrome type I |
ClinVar |
PMID:2261499 PMID:16917026 PMID:17439981 PMID:17452375 PMID:18161030 PMID:18165682 PMID:18414213 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 PMID:21520333 PMID:21850686 PMID:22230109 PMID:22661499 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:24088041 PMID:25033858 PMID:25237101 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26583494 PMID:26633545 PMID:27391121 PMID:28492532 PMID:28716243 PMID:29054425 PMID:29118959 PMID:29395675 PMID:30266093 PMID:31880392 |
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NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
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G |
Dqx1 |
DEAQ box RNA-dependent ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 4:113,890,201...113,899,355
Ensembl chr 4:113,890,509...113,899,347
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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G |
Ears2 |
glutamyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
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G |
Fbln1 |
fibulin 1 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
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G |
Gbe1 |
1,4-alpha-glucan branching enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
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G |
Gcn1 |
GCN1 activator of EIF2AK4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr12:46,728,684...46,789,696
Ensembl chr12:46,728,699...46,789,726
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G |
Gfra4 |
GDNF family receptor alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 3:123,573,394...123,582,431
Ensembl chr 3:123,578,997...123,581,518
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G |
Gldn |
gliomedin |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 8:58,870,516...58,914,605
Ensembl chr 8:58,870,516...58,914,603
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G |
Iqsec3 |
IQ motif and Sec7 domain ArfGEF 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 4:153,948,052...154,044,493
Ensembl chr 4:153,948,055...154,044,493
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G |
Lgi4 |
leucine-rich repeat LGI family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974
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G |
Magi3 |
membrane associated guanylate kinase, WW and PDZ domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 2:206,499,467...206,699,105
Ensembl chr 2:206,499,463...206,699,105
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G |
Musk |
muscle associated receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Pena-Shokeir syndrome type I |
ClinVar OMIM |
PMID:15184594 PMID:15496425 PMID:18414213 PMID:21520333 PMID:23326516 PMID:24122059 PMID:25262156 PMID:25537362 PMID:25612909 PMID:25695962 PMID:25741868 PMID:25900532 PMID:26467025 PMID:28492532 PMID:29704306 PMID:30429133 PMID:30719842 |
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NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
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G |
Naga |
alpha-N-acetylgalactosaminidase |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
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G |
Nalcn |
sodium leak channel, non-selective |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:27214504 PMID:31680123 |
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NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:27974811 PMID:31680123 |
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NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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G |
Prg4 |
proteoglycan 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr13:67,672,588...67,688,902
Ensembl chr13:67,672,878...67,688,477
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G |
Prickle1 |
prickle planar cell polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
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G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by OMIM:208150 ClinVar Annotator: match by term: Pena-Shokeir syndrome type I ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 PMID:12929188 PMID:14504330 PMID:14659409 PMID:14729848 PMID:15036330 PMID:15145336 PMID:15282317 PMID:15286164 PMID:15328566 PMID:15482960 PMID:16945936 PMID:17190963 PMID:17594401 PMID:17686188 PMID:17878953 PMID:19620612 PMID:20157724 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:22326364 PMID:24033266 PMID:24319099 PMID:25194721 PMID:25264167 PMID:25741868 PMID:26147564 PMID:26467025 PMID:26782015 PMID:26910802 PMID:26927095 PMID:28492532 PMID:28495245 PMID:29053879 PMID:29054425 PMID:29189923 PMID:30124556 PMID:30266223 PMID:31680123 |
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NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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G |
RGD1307100 |
similar to RIKEN cDNA D630029K19 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 2:123,555,742...123,766,675
Ensembl chr 2:123,555,673...123,766,676
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G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
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G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:20839240 PMID:21911697 PMID:22473935 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 |
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NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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G |
Ryr3 |
ryanodine receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 3:104,117,307...104,665,151
Ensembl chr 3:104,118,063...104,504,204
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G |
Scn4a |
sodium voltage-gated channel alpha subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
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G |
Scn5a |
sodium voltage-gated channel alpha subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
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G |
Setbp1 |
SET binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 PMID:31680123 |
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NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
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G |
Spag16 |
sperm associated antigen 16 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 9:77,027,626...77,833,476
Ensembl chr 9:77,320,726...77,833,281
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G |
Tmpo |
thymopoietin |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
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G |
Unc50 |
unc-50 inner nuclear membrane RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 9:44,024,994...44,032,896
Ensembl chr 9:44,025,020...44,032,888
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G |
Vps13d |
vacuolar protein sorting 13 homolog D |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 5:162,891,451...163,119,239
Ensembl chr 5:162,891,451...163,119,239
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G |
Zeb2 |
zinc finger E-box binding homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
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G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 2 |
OMIM ClinVar |
PMID:14504330 PMID:18179903 PMID:18252226 |
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NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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G |
Dok7 |
docking protein 7 |
|
ISO |
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 3 |
OMIM ClinVar |
PMID:16917026 PMID:18161030 PMID:18626973 PMID:19261599 PMID:21850686 PMID:22661499 PMID:25741868 PMID:28492532 PMID:31880392 |
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NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
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G |
Nup88 |
nucleoporin 88 |
|
ISO |
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 4 |
OMIM ClinVar |
PMID:30543681 |
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NCBI chr10:57,581,828...57,606,171
Ensembl chr10:57,581,828...57,606,171
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G |
Sh3pxd2b |
SH3 and PX domains 2B |
|
ISO |
ClinVar Annotator: match by term: Frank-Ter Haar syndrome ClinVar Annotator: match by term: Frank Ter Haar syndrome ClinVar Annotator: match by OMIM:249420 |
OMIM ClinVar |
PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 PMID:24105366 PMID:25741868 PMID:28492532 PMID:29276006 |
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NCBI chr10:17,209,152...17,296,449
Ensembl chr10:17,209,212...17,291,876
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G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by OMIM:193700 ClinVar Annotator: match by term: Freeman-Sheldon syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:16642020 PMID:18414213 PMID:18695058 PMID:19142688 PMID:25741868 PMID:28492532 PMID:29805041 PMID:30379605 PMID:30826400 |
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NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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G |
A1cf |
APOBEC1 complementation factor |
|
ISO |
DNA:SNP: :rs10821905 (human) |
RGD |
PMID:28679452, PMID:28252667 |
RGD:13831119, RGD:13831120 |
NCBI chr 1:250,426,027...250,514,245
Ensembl chr 1:250,426,158...250,514,866
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
susceptibility |
ISO |
DNA:SNP:exon:rs2231142(human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 1 ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 1 |
CTD ClinVar OMIM |
PMID:16702730 PMID:16784736 PMID:18834626 PMID:19474787 PMID:19506252 PMID:20130569 PMID:20207952 PMID:20368174 PMID:20679960 PMID:21821808 PMID:22112610 PMID:22246505 PMID:22246507 PMID:22992668 PMID:23876492 PMID:23930675 PMID:25630984 PMID:25676789 PMID:26810134 PMID:28322941 PMID:29341237 PMID:29751792 PMID:31578528, PMID:19506252 |
RGD:13439747 |
NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
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G |
Adrb3 |
adrenoceptor beta 3 |
|
ISO |
DNA:missense mutation:cds:p.W64R rs4994 (human) |
RGD |
PMID:21285172 |
RGD:5684422 |
NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
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G |
Aldh16a1 |
aldehyde dehydrogenase 16 family, member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21983786 |
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NCBI chr 1:101,138,237...101,151,320
Ensembl chr 1:101,138,248...101,151,320
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G |
Alpk1 |
alpha-kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27542954 |
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NCBI chr 2:231,997,360...232,117,471
Ensembl chr 2:231,996,088...232,117,134
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G |
Cd14 |
CD14 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26462562 |
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NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
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G |
Dars2 |
aspartyl-tRNA synthetase 2 (mitochondrial) |
|
ISO |
ClinVar Annotator: match by term: Gout |
ClinVar |
PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:25741868 |
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NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
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G |
Hp |
haptoglobin |
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ISO |
|
RGD |
PMID:7281841 |
RGD:1626362 |
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26462562 |
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NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18403674 |
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NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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G |
Il33 |
interleukin 33 |
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ISO |
|
RGD |
PMID:30863362 |
RGD:40400717 |
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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G |
Nlrp1b |
NLR family, pyrin domain containing 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26462562 |
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NCBI chr10:57,755,957...57,847,867
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
N113S, D182H |
RGD |
PMID:8253776 |
RGD:1599725 |
NCBI chr X:111,798,233...111,820,270
Ensembl chr X:111,798,233...111,820,266
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G |
Slc17a3 |
solute carrier family 17 member 3 |
|
ISO |
ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 4 |
ClinVar OMIM |
PMID:20810651 |
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NCBI chr17:43,518,760...43,545,160
Ensembl chr17:43,518,655...43,543,185
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G |
Slc2a9 |
solute carrier family 2 member 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18327256 PMID:18327257 |
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NCBI chr14:77,067,537...77,192,702
Ensembl chr14:77,067,503...77,192,702
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G |
Xdh |
xanthine dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29071757 |
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NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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|
|
G |
Dars2 |
aspartyl-tRNA synthetase 2 (mitochondrial) |
|
ISO |
ClinVar Annotator: match by term: Gouty arthritis |
ClinVar |
PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:25741868 |
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NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
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G |
Mmp2 |
matrix metallopeptidase 2 |
severity |
ISO |
|
RGD |
PMID:14687896 |
RGD:8547877 |
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
|
RGD |
PMID:11796404 |
RGD:7241254 |
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
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G |
Mmp9 |
matrix metallopeptidase 9 |
severity |
ISO |
|
RGD |
PMID:14687896 |
RGD:8547877 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8035395 |
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NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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G |
Arid1b |
AT-rich interaction domain 1B |
|
ISO |
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome |
ClinVar |
|
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NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
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G |
Chd7 |
chromodomain helicase DNA binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome |
ClinVar |
|
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NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
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G |
Kmt2a |
lysine methyltransferase 2A |
|
ISO |
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar Annotator: match by OMIM:605130 |
OMIM ClinVar |
PMID:18414213 PMID:22795537 PMID:24088041 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25724810 PMID:25741868 PMID:25741869 PMID:25810209 PMID:26633545 PMID:27441994 PMID:27959697 PMID:28330790 PMID:28600779 PMID:29255178 PMID:29574747 PMID:32860008 |
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NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
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G |
Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: Growth deficiency and mental retardation with facial dysmorphism |
ClinVar |
PMID:25574841 |
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NCBI chr X:21,710,976...21,755,708
Ensembl chr X:21,711,019...21,755,525
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G |
Esr1 |
estrogen receptor 1 |
no_association |
ISO |
DNA:SNPs:exons: (rs2077647, rs1801132) (human) |
RGD |
PMID:19884274 |
RGD:10045830 |
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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G |
Esr2 |
estrogen receptor 2 |
no_association |
ISO |
DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human) |
RGD |
PMID:19884274 |
RGD:10045830 |
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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G |
Il4 |
interleukin 4 |
no_association |
ISO |
DNA:SNPs:promoter, 5' utr, intron:multiple |
RGD |
PMID:20219689 |
RGD:10402786 |
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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G |
Il4r |
interleukin 4 receptor |
no_association |
ISO |
DNA:SNPs:promoter, exons:multiple |
RGD |
PMID:20219689 |
RGD:10402786 |
NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
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G |
Matn3 |
matrilin 3 |
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ISO |
ClinVar Annotator: match by term: HAND OSTEOARTHRITIS |
ClinVar |
PMID:12736871 PMID:25741868 |
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NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
associated with Hemophilia A;protein:increased expression:synovial fluid (mouse) |
RGD |
PMID:19444976 |
RGD:11528538 |
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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G |
Il6 |
interleukin 6 |
treatment |
ISO |
associated with Hemophilia A |
RGD |
PMID:23413986 |
RGD:11060150 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Nt5e |
5' nucleotidase, ecto |
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ISO |
ClinVar Annotator: match by OMIM:211800 |
OMIM ClinVar |
PMID:21288095 |
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NCBI chr 8:95,969,002...96,012,733
Ensembl chr 8:95,968,652...96,012,696
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
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ISO |
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum |
RGD |
PMID:22386825 |
RGD:7205494 |
NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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G |
Cacna1s |
calcium voltage-gated channel subunit alpha1 S |
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ISO |
ClinVar Annotator: match by term: Hereditary liability to pressure palsies |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr13:52,889,570...52,964,558
Ensembl chr13:52,889,737...52,964,155
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G |
Lmna |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Hereditary liability to pressure palsies |
ClinVar |
PMID:16288874 |
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NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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G |
Pmp22 |
peripheral myelin protein 22 |
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ISO |
ClinVar Annotator: match by term: Hereditary liability to pressure palsies ClinVar Annotator: match by term: Hereditary Neuropathy with Liability to Pressure Palsies ClinVar Annotator: match by OMIM:162500 |
OMIM ClinVar |
PMID:7649472 PMID:7825607 PMID:8012388 PMID:8252046 PMID:8422677 PMID:8541860 PMID:8988161 PMID:9040737 PMID:9371959 PMID:9452099 PMID:9678704 PMID:9712007 PMID:10078969 PMID:10586280 PMID:11081809 PMID:12439896 PMID:12796555 PMID:14502374 PMID:15205993 PMID:15537650 PMID:15955700 PMID:16288874 PMID:16437560 PMID:17620487 PMID:18698610 PMID:19067730 PMID:19691535 PMID:20842290 PMID:21194947 PMID:21228398 PMID:21252112 PMID:21670407 PMID:21692910 PMID:21962505 PMID:25400662 PMID:25741868 PMID:26012543 PMID:26102530 PMID:26392352 PMID:26467025 PMID:28333917 PMID:28374912 PMID:28492532 PMID:30675404 |
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NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
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