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: | autoimmune disease of musculoskeletal system |
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Accession: | DOID:0060032
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browse the term
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Definition: | An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. (DO) |
For additional species annotation, visit the
Alliance of Genome Resources.
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Hgf |
hepatocyte growth factor |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:24387171 |
RGD:8548659 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Vegfa |
vascular endothelial growth factor A |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:24387171 |
RGD:8548659 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Cchcr1 |
coiled-coil alpha-helical rod protein 1 |
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ISS |
OMIM:104000 | OMIM:610753 |
MouseDO |
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NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308
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Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
susceptibility |
ISO |
DNA:SNP:3'UTR:rs3087243(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20596022 PMID:23567921 |
RGD:7411701 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cxcl10 |
C-X-C motif chemokine ligand 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22358057 |
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NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl9 |
C-X-C motif chemokine ligand 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22358057 |
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NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Cxcr3 |
C-X-C motif chemokine receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22358057 |
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NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Dnmt1 |
DNA methyltransferase 1 |
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ISO |
mRNA:increased expression:mononuclear cell: |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Ehmt2 |
euchromatic histone lysine methyltransferase 2 |
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ISO |
mRNA:increased expression:mononuclear cell: |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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Hdac1 |
histone deacetylase 1 |
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ISO |
mRNA:increased expression:mononuclear cell: |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Hdac2 |
histone deacetylase 2 |
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ISO |
mRNA:decreased expression:mononuclear cell: |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
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Hdac7 |
histone deacetylase 7 |
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ISO |
mRNA:decreased expression:mononuclear cell: |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 7:128,923,918...128,962,025
Ensembl chr 7:128,923,920...128,962,072
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Ikzf4 |
IKAROS family zinc finger 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20596022 |
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NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341
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Il18 |
interleukin 18 |
susceptibility |
ISO |
DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) |
RGD |
PMID:24446726 |
RGD:8655875 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1rn |
interleukin 1 receptor antagonist |
severity |
ISO |
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) |
RGD |
PMID:8077705 |
RGD:6909137 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:3261574 PMID:16297194 |
RGD:8663449, RGD:8663450 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il2ra |
interleukin 2 receptor subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20596022 |
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NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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Kdm1a |
lysine demethylase 1A |
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ISO |
mRNA:decreased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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Kdm4a |
lysine demethylase 4A |
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ISO |
mRNA:decreased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501
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Kdm4b |
lysine demethylase 4B |
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ISO |
mRNA:decreased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 9:1,158,737...1,237,228
Ensembl chr 9:1,158,752...1,236,543
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Kdm4c |
lysine demethylase 4C |
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ISO |
mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
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Kdm5a |
lysine demethylase 5A |
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ISO |
mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
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Mx1 |
MX dynamin like GTPase 1 |
onset |
ISO |
DNA:SNP:intron 6:g.9959C>T (human) |
RGD |
PMID:10942113 |
RGD:126777672 |
NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
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Notch4 |
notch receptor 4 |
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ISO |
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RGD |
PMID:12589427 |
RGD:6480681 |
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Prdx5 |
peroxiredoxin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20596022 |
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NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
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Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
severity |
ISO |
DNA:snp:cds:c.1858C>T (human) |
RGD |
PMID:16829308 |
RGD:6484734 |
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphism: : HLA-DQA1*0104, HLA-DQA1*0606; |
RGD |
PMID:16231148 |
RGD:8547568 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphism: : HLA-DQB1*0604; |
RGD |
PMID:16231148 |
RGD:8547568 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Stx17 |
syntaxin 17 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20596022 |
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NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451
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RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphism: :HLA-DQA1*0501; DNA:polymorphism (human) |
RGD |
PMID:18671865 PMID:8666549 PMID:15067086 |
RGD:5147790, RGD:8547569, RGD:5147796 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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Ace |
angiotensin I converting enzyme |
susceptibility |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:22876137 |
RGD:7829800 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21122270 |
RGD:5686891 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Ano6 |
anoctamin 6 |
severity |
ISO |
DNA:SNP: :rs17095830(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22138694 PMID:23308121 |
RGD:9684849 |
NCBI chr 7:126,933,629...127,113,589
Ensembl chr 7:126,933,936...127,113,589
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Antxr2 |
ANTXR cell adhesion molecule 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062062 PMID:21743469 |
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NCBI chr14:11,542,266...11,682,112
Ensembl chr14:11,541,772...11,682,094
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Aspn |
asporin |
susceptibility |
ISO |
DNA:repeats:exon: |
RGD |
PMID:20144272 |
RGD:9684964 |
NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
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Card9 |
caspase recruitment domain family, member 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
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NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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Crp |
C-reactive protein |
disease_progression |
ISO |
protein:increased expression:serum: |
RGD |
PMID:22422197 PMID:6605119 |
RGD:6482308, RGD:9491788 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
DNA:polymorphism: :4887C>A (human) |
RGD |
PMID:12880680 |
RGD:1581252 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Erap1 |
endoplasmic reticulum aminopeptidase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 |
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NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
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Fcgr3a |
Fc gamma receptor 3A |
severity |
ISO |
protein:decreased expression:polymorphonuclear leucocyte |
RGD |
PMID:8453794 |
RGD:5508388 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Igfbp3 |
insulin-like growth factor binding protein 3 |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:9851264 |
RGD:10402573 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Il12b |
interleukin 12B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
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NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
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Il17a |
interleukin 17A |
treatment |
ISO |
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RGD |
PMID:24035250 |
RGD:9068448 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1r2 |
interleukin 1 receptor type 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062062 |
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NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725
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Il23r |
interleukin 23 receptor |
no_association |
ISO |
DNA:SNPs,haplotype:multiple: CTD Direct Evidence: marker/mechanism DNA:SNP: :rs11209026(human) |
CTD RGD |
PMID:17952073 PMID:20062062 PMID:19522770 PMID:19877036 |
RGD:8549549, RGD:8549630 |
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il6 |
interleukin 6 |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:26339141 |
RGD:12792209 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irak1 |
interleukin-1 receptor-associated kinase 1 |
susceptibility |
ISO |
DNA:SNP:enhancer: (rs3027898) (human) |
RGD |
PMID:20500689 |
RGD:7495783 |
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Jak2 |
Janus kinase 2 |
susceptibility |
ISO |
DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) |
RGD |
PMID:20627814 |
RGD:6483025 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kdm5a |
lysine demethylase 5A |
susceptibility |
ISO |
DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) |
RGD |
PMID:24069348 |
RGD:9588532 |
NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
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Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:SNP:cds:677C>T (human) |
RGD |
PMID:25060515 |
RGD:42722610 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Pgf |
placental growth factor |
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ISO |
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RGD |
PMID:21873332 |
RGD:6483576 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Psmb9 |
proteasome 20S subunit beta 9 |
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ISO |
DNA: snp: rs17587 |
RGD |
PMID:22034108 |
RGD:6483349 |
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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Ptger4 |
prostaglandin E receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21743469 PMID:21743469 |
RGD:6483530 |
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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RT1-Ba |
RT1 class II, locus Ba |
severity |
ISO |
DNA:polymorphism:cds:HLA-DQA1*0401 (human) |
RGD |
PMID:19565552 |
RGD:5147611 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb |
RT1 class II, locus Bb |
severity |
ISO |
DNA:polymorphism:cds:HLA-DQB1*0603 (human) |
RGD |
PMID:19565552 |
RGD:5147611 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-CE13 |
RT1 class I, locus CE13 |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) |
RGD |
PMID:8733445 |
RGD:7364914 |
NCBI chr20:3,314,984...3,318,037
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RT1-Db1 |
RT1 class II, locus Db1 |
severity |
ISO |
DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) |
RGD |
PMID:19565552 |
RGD:5147611 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-M5 |
RT1 class Ib, locus M5 |
no_association |
ISO |
DNA:polymorphisms:cds:HLA-B2705 (human) |
RGD |
PMID:21927904 |
RGD:10755579 |
NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775
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Runx3 |
RUNX family transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
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NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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Tap1 |
transporter 1, ATP binding cassette subfamily B member |
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ISO |
DNA:SNPs: : |
RGD |
PMID:19480848 |
RGD:6482250 |
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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Tap2 |
transporter 2, ATP binding cassette subfamily B member |
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ISO |
DNA:SNPs: : |
RGD |
PMID:19480848 |
RGD:6482250 |
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Tbkbp1 |
TBK1 binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
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NCBI chr10:82,120,558...82,135,749
Ensembl chr10:82,120,564...82,134,352
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Thbd |
thrombomodulin |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21556780 |
RGD:5684983 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tlr4 |
toll-like receptor 4 |
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ISO |
mRNA:increased expression:blood cell: |
RGD |
PMID:20952467 |
RGD:7794744 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr5 |
toll-like receptor 5 |
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ISO |
mRNA:increased expression:blood cell: |
RGD |
PMID:20952467 |
RGD:7794744 |
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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Tnfrsf1b |
TNF receptor superfamily member 1B |
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ISO |
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RGD |
PMID:21317434 |
RGD:5131280 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Vip |
vasoactive intestinal peptide |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:20340024 |
RGD:5685387 |
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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C16h4orf47 |
similar to human chromosome 4 open reading frame 47 |
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ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type |
ClinVar |
PMID:25741868 |
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NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
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Ufsp2 |
UFM1-specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type |
OMIM ClinVar |
PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 PMID:28892125 More...
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NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
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Ccl26 |
C-C motif chemokine ligand 26 |
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ISO |
protein:increased expression:blister, serum (human) |
RGD |
PMID:21881593 |
RGD:11087555 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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Cfb |
complement factor B |
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ISO |
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RGD |
PMID:17024247 |
RGD:7421522 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
F2 |
coagulation factor II |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:21488867 |
RGD:5147756 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:1377725 |
RGD:8547591 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Il2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:1973607 |
RGD:8663461 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:9687525 |
RGD:8547843 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
mRNA:increased expression: : |
RGD |
PMID:7738351 |
RGD:7421578 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
C1qa |
complement C1q A chain |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency |
OMIM ClinVar |
PMID:7594474 PMID:8840296 PMID:9225968 PMID:21654842 PMID:25741868 PMID:26563161 PMID:28492532 PMID:29739689 PMID:30008451 More...
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NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
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G |
C1qb |
complement C1q B chain |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency |
OMIM ClinVar |
PMID:2894352 PMID:17513176 PMID:21654842 PMID:24160257 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
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G |
C1qc |
complement C1q C chain |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency |
OMIM ClinVar |
PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 PMID:24157463 PMID:25741868 PMID:28082982 PMID:28492532 PMID:30008451 PMID:31357913 More...
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NCBI chr 5:149,127,424...149,130,732
Ensembl chr 5:149,127,415...149,131,017
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G |
Atrip |
ATR interacting protein |
|
ISO |
ClinVar Annotator: match by term: Chilblain lupus |
ClinVar |
PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 PMID:20871604 PMID:21808053 PMID:22829693 PMID:23989343 PMID:25848017 PMID:28492532 More...
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NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
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G |
Trex1 |
three prime repair exonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Chilblain lupus |
ClinVar |
PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 PMID:20871604 PMID:21808053 PMID:22829693 PMID:23989343 PMID:25848017 PMID:28492532 More...
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NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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G |
Atrip |
ATR interacting protein |
|
ISO |
ClinVar Annotator: match by term: Chilblain lupus 1 |
ClinVar |
PMID:16845398 PMID:23602593 PMID:24183309 PMID:25582466 PMID:25604658 PMID:25741868 PMID:26938784 PMID:28492532 More...
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NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
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G |
Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27566796 |
|
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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G |
Sting1 |
stimulator of interferon response cGAMP interactor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27566796 |
|
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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G |
Trex1 |
three prime repair exonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Chilblain lupus 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16845398 PMID:23602593 PMID:24183309 PMID:25582466 PMID:25604658 PMID:25741868 PMID:26938784 PMID:27566796 PMID:28492532 More...
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NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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G |
Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Chilblain lupus 2 |
OMIM ClinVar |
PMID:19525956 PMID:20653736 PMID:21204240 PMID:22461318 PMID:22691373 PMID:22973040 PMID:24033266 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:28229507 PMID:28492532 PMID:30275001 More...
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NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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G |
Tldc2 |
TBC/LysM-associated domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chilblain lupus 2 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741
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G |
Clu |
clusterin |
|
ISO |
mRNA:decreased expression:conjunctiva |
RGD |
PMID:12036968 |
RGD:8699507 |
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:11448121 |
RGD:8549794 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Ptger3 |
prostaglandin E receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21966456 |
|
NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human) DNA:polymorphism:cds:HLA-DQB1*0301 (human) |
RGD |
PMID:9683867 PMID:9008223 |
RGD:7365096, RGD:7483589 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism: :DRB1*1101, DRB1*0701(human) DNA:polymorphism: :HLA-DRB1*04(human) |
RGD |
PMID:9683867 PMID:8052655 |
RGD:7365096, RGD:7365103 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:Conjunctiva: |
RGD |
PMID:7750940 |
RGD:7394786 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Chat |
choline O-acetyltransferase |
susceptibility |
ISO |
DNA:frameshift mutation, missense mutations (human) ClinVar Annotator: match by term: Familial infantile myasthenia |
ClinVar OMIM RGD |
PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12756141 PMID:15381704 PMID:15701560 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19520274 PMID:19900826 PMID:21786365 PMID:21948486 PMID:22678886 PMID:23292760 PMID:24033266 PMID:25741868 PMID:26080897 PMID:26467025 PMID:26789281 PMID:27590285 PMID:28492532 PMID:28497657 PMID:28991257 PMID:29054425 PMID:29130637 PMID:29189923 PMID:32368696 PMID:32411636 PMID:11172068 More...
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RGD:1600831 |
NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
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G |
Slc18a3 |
solute carrier family 18 member A3 |
|
ISO |
ClinVar Annotator: match by term: Familial infantile myasthenia |
ClinVar |
PMID:12548525 PMID:21786365 PMID:21948486 PMID:23292760 PMID:25741868 PMID:27590285 PMID:28492532 PMID:29130637 PMID:32411636 More...
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NCBI chr16:7,713,630...7,716,491
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC |
ClinVar |
PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 PMID:8730290 PMID:8956040 PMID:9452032 PMID:9829911 PMID:9829912 PMID:10567493 PMID:12000816 PMID:12114495 PMID:14722919 PMID:14767570 PMID:15300849 PMID:18446368 PMID:19270817 PMID:20120764 PMID:21362373 PMID:23842656 PMID:24206762 PMID:24301059 PMID:24707167 PMID:25157968 PMID:25720320 PMID:25741868 PMID:25867206 PMID:27527340 PMID:27617348 PMID:28492532 More...
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NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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G |
Cenpc |
centromere protein C |
|
ISO |
associated with Anticentromere antibody positivity |
RGD |
PMID:25220385 |
RGD:27372886 |
NCBI chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476
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G |
Fbn1 |
fibrillin 1 |
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ISO |
|
RGD |
PMID:10395706 |
RGD:12910471 |
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
|
RGD |
PMID:21844117 |
RGD:6892918 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G |
Cd40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
|
ISO |
|
RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Csf1 |
colony stimulating factor 1 |
|
ISO |
|
RGD |
PMID:18981160 |
RGD:7257572 |
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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G |
Il17a |
interleukin 17A |
|
ISO |
protein:increased expression:epidermis (human) |
RGD |
PMID:20493423 |
RGD:8698667 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Trex1 |
three prime repair exonuclease 1 |
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ISS |
|
MouseDO |
|
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NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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G |
Eln |
elastin |
|
ISO |
|
RGD |
PMID:8256113 |
RGD:9585750 |
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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G |
Lta |
lymphotoxin alpha |
|
ISO |
DNA:polymorphism |
RGD |
PMID:7914110 |
RGD:8548777 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
Tnf |
tumor necrosis factor |
|
ISO |
DNA:polymorphism:promoter |
RGD |
PMID:7914110 |
RGD:8548777 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
mRNA:increased expression: : |
RGD |
PMID:7738351 |
RGD:7421578 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Angptl2 |
angiopoietin-like 2 |
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ISS |
|
MouseDO |
|
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NCBI chr 3:16,517,185...16,547,024
Ensembl chr 3:16,517,420...16,548,178
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G |
C2 |
complement C2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3501473 |
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NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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G |
C9 |
complement C9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11359403 |
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NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
protein:increased expression:limb muscle: |
RGD |
PMID:15772970 |
RGD:8661727 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Cd36 |
CD36 molecule |
|
ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:17572512 |
RGD:6893508 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cd40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
|
ISO |
|
RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
protein:expression:serum |
RGD |
PMID:22394569 |
RGD:9491763 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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G |
Fas |
Fas cell surface death receptor |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:9182923 |
RGD:8662437 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Hgf |
hepatocyte growth factor |
disease_progression |
ISO |
protein:increased expression:serum: |
RGD |
PMID:8952317 |
RGD:8548628 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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G |
Ifng |
interferon gamma |
|
ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:19953283 |
RGD:7794747 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il18 |
interleukin 18 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:20601655 |
RGD:4889547 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19035492 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19035492 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il4 |
interleukin 4 |
|
ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:19953283 |
RGD:7794747 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:polymorphisms:cds:p.G54D,G57E(human) |
RGD |
PMID:12485445 |
RGD:8693750 |
NCBI chr 1:228,016,439...228,024,736
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:11157561 |
RGD:8547876 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:11157561 |
RGD:8547876 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Pms1 |
PMS1 homolog 1, mismatch repair system component |
|
ISO |
|
RGD |
PMID:15856462 |
RGD:2324870 |
NCBI chr 9:48,229,403...48,340,237
Ensembl chr 9:48,253,410...48,340,237
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G |
Stat4 |
signal transducer and activator of transcription 4 |
|
ISO |
DNA:SNP: :rs7574865 (human) |
RGD |
PMID:22402141 |
RGD:8661693 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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G |
Thbd |
thrombomodulin |
|
ISO |
|
RGD |
PMID:17899683 |
RGD:5685006 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
mRNA,protein:increased expression:muscle |
RGD |
PMID:19953283 |
RGD:7794747 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
mRNA,protein:increased expression:muscle |
RGD |
PMID:19953283 |
RGD:7794747 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
mRNA,protein:increased expression:muscle |
RGD |
PMID:19953283 |
RGD:7794747 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19035492 |
|
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
severity |
ISO |
protein:decreased expression:serum |
RGD |
PMID:21615510 |
RGD:8694418 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Agt |
angiotensinogen |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:14730619 |
RGD:8548886 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Bank1 |
B-cell scaffold protein with ankyrin repeats 1 |
susceptibility |
ISO |
DNA:SNPs: :rs10516487,rs17266594,rs3733197(human) |
RGD |
PMID:19815934 |
RGD:9684975 |
NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
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G |
Cav1 |
caveolin 1 |
susceptibility no_association |
ISO |
DNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human) DNA:SNPs:enhancer, intron:multiple |
RGD |
PMID:22402147 PMID:22402147 |
RGD:8661768, RGD:8661768 |
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
|
ISO |
|
RGD |
PMID:18432520 |
RGD:5135258 |
NCBI chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093
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|
G |
Fcgr2a |
Fc gamma receptor 2A |
|
ISO |
|
RGD |
PMID:8254199 |
RGD:5147984 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Il10 |
interleukin 10 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:9034992 |
RGD:5684371 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il13 |
interleukin 13 |
|
ISO |
DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) |
RGD |
PMID:16832637 |
RGD:5684369 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il6 |
interleukin 6 |
treatment |
ISO |
|
RGD |
PMID:20338043 |
RGD:12792275 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
susceptibility |
ISO |
DNA:missense mutation:cds:p.F196S (rs1059702) (human) |
RGD |
PMID:21898345 |
RGD:7495782 |
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
Kdr |
kinase insert domain receptor |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:19886888 |
RGD:8551850 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphism::HLA-DQA1*0501; |
RGD |
PMID:11014350 |
RGD:8547725 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
Stat4 |
signal transducer and activator of transcription 4 |
susceptibility no_association |
ISO |
DNA:SNP:introns: (rs7574865, rs10168266) (human) DNA:SNP:intron: (rs7574865) (human) DNA:SNP:intron: (rs3821236) (human) |
RGD |
PMID:23755762 PMID:19286670 PMID:23755762 |
RGD:8661701, RGD:8661714, RGD:8661701 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
susceptibility |
ISO |
|
RGD |
PMID:16112028 |
RGD:1578361 |
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
susceptibility |
ISO |
|
RGD |
PMID:16112028 |
RGD:1578361 |
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27228633 |
|
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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G |
Tlr2 |
toll-like receptor 2 |
disease_progression |
ISO |
DNA:polymorphism:cds:p.P631H(rs5743704)(human) |
RGD |
PMID:21905008 |
RGD:8553044 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Wrn |
WRN RecQ like helicase |
|
ISO |
|
RGD |
PMID:16906373 |
RGD:10042980 |
NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
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G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly |
OMIM ClinVar |
PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21964574 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:29858556 PMID:30230566 PMID:30373780 More...
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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G |
Anxa1 |
annexin A1 |
|
ISO |
|
RGD |
PMID:20701627 |
RGD:7421565 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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G |
Cd40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
|
ISO |
|
RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Il17a |
interleukin 17A |
|
ISO |
protein:increased expression:epidermis (human) |
RGD |
PMID:20493423 |
RGD:8698667 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Nat2 |
N-acetyltransferase 2 |
treatment |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:9170150 |
RGD:8552671 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33072095 |
|
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphism: :HLA-DQA1*0102 |
RGD |
PMID:7883595 |
RGD:8547567 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
Traf3ip2 |
Traf3 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Discoid lupus erythematosus |
ClinVar |
PMID:25741868 |
|
NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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G |
C3 |
complement C3 |
|
ISO |
associated with Leprosy |
RGD |
PMID:2783924 |
RGD:7421527 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Cfb |
complement factor B |
|
ISO |
associated with Leprosy |
RGD |
PMID:2783924 |
RGD:7421527 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
associated with Behcet Syndrome;DNA:deletion:: (human) |
RGD |
PMID:22766250 |
RGD:7794848 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Lta |
lymphotoxin alpha |
|
ISO |
associated with Sarcoidosis;DNA:polymorphism:intron |
RGD |
PMID:19225544 |
RGD:8548773 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
RT1-CE13 |
RT1 class I, locus CE13 |
|
ISO |
associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) |
RGD |
PMID:12198697 |
RGD:7364926 |
NCBI chr20:3,314,984...3,318,037
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G |
Tnf |
tumor necrosis factor |
susceptibility |
ISO |
associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) |
RGD |
PMID:12198697 |
RGD:7364926 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Vdr |
vitamin D receptor |
susceptibility |
ISO |
associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) |
RGD |
PMID:24880677 |
RGD:13217417 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Arpc5 |
actin related protein 2/3 complex, subunit 5 |
treatment |
IEP |
|
RGD |
PMID:17997938 |
RGD:11049469 |
NCBI chr13:64,904,504...64,913,413
Ensembl chr13:64,887,136...64,913,410
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G |
C3 |
complement C3 |
|
ISO IEP |
|
RGD |
PMID:17962462 PMID:147324 |
RGD:7401263, RGD:11040804 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
C6 |
complement C6 |
susceptibility |
IAGP |
|
RGD |
PMID:17034580 |
RGD:1600670 |
NCBI chr 2:53,846,027...53,921,279
Ensembl chr 2:53,851,985...53,921,275
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G |
Cd40lg |
CD40 ligand |
treatment |
IMP |
|
RGD |
PMID:11359850 |
RGD:8547800 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Cfb |
complement factor B |
treatment |
IMP |
|
RGD |
PMID:25355917 |
RGD:11041161 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
treatment |
ISO |
|
RGD |
PMID:10606626 |
RGD:704386 |
NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
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G |
Ctsl |
cathepsin L |
|
IEP |
mRNA:increased expression:quadriceps (rat) |
RGD |
PMID:16365386 |
RGD:2315588 |
NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
IMP IEP |
|
RGD |
PMID:19232748 PMID:15843529 |
RGD:2311364, RGD:1598501 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
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IEP |
|
RGD |
PMID:15843529 |
RGD:1598501 |
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
IEP IMP |
|
RGD |
PMID:15843529 PMID:19232748 |
RGD:1598501, RGD:2311364 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Il15 |
interleukin 15 |
|
IEP |
protein:increased expression:skeletal muscle |
RGD |
PMID:11585642 |
RGD:1626617 |
NCBI chr19:25,640,013...25,706,818
Ensembl chr19:25,640,251...25,706,820
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G |
Il23r |
interleukin 23 receptor |
|
IEP |
mRNA:increased expression:lymph node |
RGD |
PMID:21193288 |
RGD:5108250 |
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
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IDA |
|
RGD |
PMID:18250419 |
RGD:2325986 |
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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G |
Il4r |
interleukin 4 receptor |
|
IEP |
protein:increased expression:skeletal muscle |
RGD |
PMID:19395316 |
RGD:4889981 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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G |
Musk |
muscle associated receptor tyrosine kinase |
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IDA |
|
RGD |
PMID:17081697 |
RGD:2317084 |
NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
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G |
Myog |
myogenin |
|
IEP |
|
RGD |
PMID:1312030 |
RGD:9686077 |
NCBI chr13:45,745,455...45,748,044
Ensembl chr13:45,745,436...45,748,039
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G |
Rapsn |
receptor-associated protein of the synapse |
|
IEP |
protein:decreased expression:neuromuscular junction |
RGD |
PMID:19344765 |
RGD:8549750 |
NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
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G |
Cat |
catalase |
|
ISO |
protein:decreased activity:mononuclear cell: |
RGD |
PMID:22532869 |
RGD:9479066 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:19924498 |
RGD:14995946 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Comt |
catechol-O-methyltransferase |
severity |
ISO |
DNA:polymorphism:cds:p.V158M(human) |
RGD |
PMID:24762091 |
RGD:13450944 |
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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G |
Il1rn |
interleukin 1 receptor antagonist |
severity |
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:10341365 |
RGD:8549787 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Atp2c1 |
ATPase secretory pathway Ca2+ transporting 1 |
|
ISO |
ClinVar Annotator: match by term: Familial benign pemphigus CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3978039 PMID:10615129 PMID:10767338 PMID:11450592 PMID:11874499 PMID:15545997 PMID:16621454 PMID:20338123 PMID:21883398 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006
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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 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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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 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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G |
Il4 |
interleukin 4 |
no_association |
ISO |
DNA:SNPs:promoter, 5' utr, intron:multiple |
RGD |
PMID:20219689 |
RGD:10402786 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il4r |
interleukin 4 receptor |
no_association |
ISO |
DNA:SNPs:promoter, exons:multiple |
RGD |
PMID:20219689 |
RGD:10402786 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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G |
Dstyk |
dual serine/threonine and tyrosine protein kinase |
|
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33624863 |
|
NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism: :HLA-DRB1*1104, HLA-DRB1*080(human) |
RGD |
PMID:7955632 |
RGD:7365102 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Acp3 |
acid phosphatase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 8:104,905,570...104,956,146
Ensembl chr 8:104,905,586...104,954,236
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G |
Acrbp |
acrosin binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
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G |
Adcy7 |
adenylate cyclase 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr19:18,740,875...18,798,924
Ensembl chr19:18,740,875...18,776,311
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G |
Alox12 |
arachidonate 12-lipoxygenase, 12S type |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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G |
Ankrd9 |
ankyrin repeat domain 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 6:130,001,914...130,008,792
Ensembl chr 6:129,998,486...130,008,923
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G |
Aopep |
aminopeptidase O |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331
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G |
Aqp9 |
aquaporin 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
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G |
Areg |
amphiregulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
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|
G |
Asap1 |
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 7:95,786,130...96,093,111
Ensembl chr 7:95,787,818...96,092,754
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G |
Avl9 |
AVL9 cell migration associated |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:85,961,493...86,008,347
Ensembl chr 4:85,961,635...86,008,791
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|
G |
B4galt5 |
beta-1,4-galactosyltransferase 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 3:156,018,056...156,033,983
Ensembl chr 3:156,018,053...156,070,074
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G |
Bend2 |
BEN domain containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr X:33,365,748...33,389,773
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G |
Bltp3b |
bridge-like lipid transfer protein family member 3B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 7:24,181,635...24,261,720
Ensembl chr 7:24,181,644...24,261,720
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|
G |
Btg1 |
BTG anti-proliferation factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649
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|
G |
Btg3 |
BTG anti-proliferation factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr11:17,030,156...17,046,069
Ensembl chr11:17,030,160...17,046,170
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G |
C8b |
complement C8 beta chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7980680 |
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NCBI chr 5:119,535,009...119,572,565
Ensembl chr 5:119,535,146...119,572,565
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G |
Cald1 |
caldesmon 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:63,265,781...63,446,936
Ensembl chr 4:63,265,942...63,446,932
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G |
Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 3:8,746,176...8,806,072
Ensembl chr 3:8,746,176...8,806,072
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|
G |
Ccdc122 |
coiled-coil domain containing 122 |
|
ISO |
ClinVar Annotator: match by term: JUVENILE ARTHRITIS |
ClinVar |
PMID:25741868 |
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NCBI chr15:52,407,806...52,470,050
Ensembl chr15:52,407,717...52,470,163
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
no_association |
ISO |
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) DNA:polymorphisms: :multiple (human) |
RGD |
PMID:17565662 PMID:16775617 |
RGD:1626283, RGD:1626284 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Cd14 |
CD14 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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G |
Cd83 |
CD83 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr17:20,887,309...20,907,009
Ensembl chr17:20,887,309...20,907,083
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G |
Cd8b |
CD8 subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:103,312,596...103,328,523
Ensembl chr 4:103,312,578...103,328,553
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G |
Ciita |
class II, major histocompatibility complex, transactivator |
susceptibility no_association |
ISO |
DNA:polymorphism:exon:1614G>C (human) DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human) |
RGD |
PMID:17661914 PMID:16426246 |
RGD:5491187, RGD:5491189 |
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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G |
Clu |
clusterin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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G |
Cmtm2a |
CKLF-like MARVEL transmembrane domain containing 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr19:671,719...678,839
Ensembl chr19:671,719...678,837
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G |
Crem |
cAMP responsive element modulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989
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G |
Crp |
C-reactive protein |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:22885951 |
RGD:6906884 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Cttn |
cortactin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:199,599,710...199,635,254
Ensembl chr 1:199,599,710...199,635,164
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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G |
Cxcl3 |
C-X-C motif chemokine ligand 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr14:17,270,146...17,289,458
Ensembl chr14:17,270,146...17,289,511
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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 PMID:26387944 |
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NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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G |
Dapk1 |
death associated protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
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G |
Ddit3 |
DNA-damage inducible transcript 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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G |
Dusp1 |
dual specificity phosphatase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr10:16,680,489...16,683,276
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G |
Dusp2 |
dual specificity phosphatase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 3:114,556,325...114,558,510
Ensembl chr 3:114,556,325...114,558,499
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G |
Dusp4 |
dual specificity phosphatase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr16:57,376,659...57,398,161
Ensembl chr16:57,377,229...57,398,138
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G |
Dysf |
dysferlin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
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G |
Egf |
epidermal growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
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G |
Egr1 |
early growth response 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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G |
Elf2 |
E74 like ETS transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 2:135,292,291...135,385,942
Ensembl chr 2:135,294,906...135,385,947
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G |
Etnk1 |
ethanolamine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:176,126,056...176,170,325
Ensembl chr 4:176,126,180...176,193,770
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G |
Etv6 |
ETS variant transcription factor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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|
G |
Fam20a |
FAM20A, golgi associated secretory pathway pseudokinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
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G |
Faxdc2 |
fatty acid hydroxylase domain containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr10:42,245,808...42,271,679
Ensembl chr10:42,246,868...42,271,871
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G |
Fcgr1a |
Fc gamma receptor 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994
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G |
Fchsd2 |
FCH and double SH3 domains 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:155,444,471...155,685,539
Ensembl chr 1:155,444,460...155,685,539
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G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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|
G |
Fosb |
FosB proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:78,954,312...78,961,492
Ensembl chr 1:78,954,115...78,961,465
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|
G |
Fosl2 |
FOS like 2, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 6:24,297,898...24,319,157
Ensembl chr 6:24,300,956...24,320,034
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G |
Foxp1 |
forkhead box P1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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|
G |
Gadd45a |
growth arrest and DNA-damage-inducible, alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:96,154,789...96,157,091
Ensembl chr 4:96,154,789...96,157,115
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|
G |
Gmpr |
guanosine monophosphate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621
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G |
Gng11 |
G protein subunit gamma 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:32,023,003...32,028,443
Ensembl chr 4:32,023,003...32,028,442
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G |
Gp1bb |
glycoprotein Ib platelet subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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|
G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:18328165 |
RGD:5490992 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
H2bc8 |
H2B clustered histone 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr17:42,708,646...42,709,435
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G |
Hbegf |
heparin-binding EGF-like growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441
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G |
Herpud2 |
HERPUD family member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 8:23,573,374...23,617,874
Ensembl chr 8:23,573,379...23,617,874
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G |
Hfe |
homeostatic iron regulator |
|
ISO |
DNA:missense mutation:cds:p.C282Y (human) |
RGD |
PMID:16047841 |
RGD:8694357 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Hist1h2af |
histone cluster 1 H2A family member F |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr17:41,379,404...41,379,796
Ensembl chr17:41,379,404...41,379,796
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|
G |
Hspa6l-ps1 |
heat shock protein family A (Hsp70) member 6 like, pseudogene 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr13:83,271,340...83,275,267
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
ISO |
protein:increased expression:serum,synovial fluid: |
RGD |
PMID:8255671 |
RGD:12910480 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
DNA:SNP:promoter:-889C>T (human) |
RGD |
PMID:8162643 |
RGD:7794716 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il2 |
interleukin 2 |
|
ISO |
protein:increased expression:mononuclear cell |
RGD |
PMID:21859687 |
RGD:5147870 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il6 |
interleukin 6 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:9489833 |
RGD:7829742 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Itga2b |
integrin subunit alpha 2b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
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G |
Itgb5 |
integrin subunit beta 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
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G |
Jmjd1c |
jumonji domain containing 1C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122
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G |
Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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G |
Kat6b |
lysine acetyltransferase 6B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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G |
Kcnj15 |
potassium inwardly-rectifying channel, subfamily J, member 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr11:34,577,397...34,621,725
Ensembl chr11:34,577,363...34,621,952
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G |
Klf4 |
KLF transcription factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 5:70,278,843...70,283,751
Ensembl chr 5:70,278,972...70,283,602
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:178,185,418...178,218,484
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G |
Lacc1 |
laccase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: JUVENILE ARTHRITIS |
OMIM ClinVar |
PMID:25147203 PMID:25220867 PMID:25741868 PMID:27881174 PMID:29717096 PMID:31811059 More...
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NCBI chr15:52,390,267...52,407,630
Ensembl chr15:52,395,183...52,407,545
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G |
Lilra5 |
leukocyte immunoglobulin like receptor A5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:69,973,292...69,978,750
Ensembl chr 1:69,973,292...70,001,718
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G |
LOC685203 |
hypothetical protein LOC685203 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 9:48,539,140...48,584,882
Ensembl chr 9:48,568,409...48,584,831
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G |
Lpp |
LIM domain containing preferred translocation partner in lipoma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr11:75,787,326...76,426,646
Ensembl chr11:75,797,078...76,422,597
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G |
Mad1l1 |
mitotic arrest deficient 1 like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr12:14,320,892...14,630,750
Ensembl chr12:14,320,892...14,630,703
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G |
Maff |
MAF bZIP transcription factor F |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 7:110,912,499...110,923,851
Ensembl chr 7:110,912,499...110,923,851
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G |
Maml2 |
mastermind-like transcriptional coactivator 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 8:10,268,611...10,588,307
Ensembl chr 8:10,268,665...10,587,107
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G |
Map2 |
microtubule-associated protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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G |
Mapk1 |
mitogen activated protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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G |
Mbl2 |
mannose binding lectin 2 |
|
ISO |
|
RGD |
PMID:18334024 |
RGD:12910845 |
NCBI chr 1:228,016,439...228,024,736
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G |
Mex3c |
mex-3 RNA binding family member C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr18:67,167,600...67,188,595
Ensembl chr18:67,166,718...67,188,595
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G |
Ms4a4a |
membrane spanning 4-domains A4A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:208,060,507...208,085,121
Ensembl chr 1:208,046,971...208,085,119
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G |
Msn |
moesin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr X:60,996,043...61,064,011
Ensembl chr X:60,995,951...61,065,628
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G |
Mtss1 |
MTSS I-BAR domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 7:90,488,751...90,628,007
Ensembl chr 7:90,488,754...90,627,968
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G |
Myzap |
myocardial zonula adherens protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 8:72,155,817...72,243,036
Ensembl chr 8:72,131,530...72,243,036
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G |
Ndel1 |
nudE neurodevelopment protein 1-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr10:53,505,628...53,582,025
Ensembl chr10:53,516,491...53,570,907
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G |
Nr4a2 |
nuclear receptor subfamily 4, group A, member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
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G |
Nr4a3 |
nuclear receptor subfamily 4, group A, member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
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G |
Nrg1 |
neuregulin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr16:59,250,658...60,303,024
Ensembl chr16:59,250,854...60,296,884
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G |
Olr1 |
oxidized low density lipoprotein receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523
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G |
Osm |
oncostatin M |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr14:79,103,638...79,108,500
Ensembl chr14:79,104,344...79,108,313
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G |
Pacsin2 |
protein kinase C and casein kinase substrate in neurons 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 7:114,505,525...114,599,087
Ensembl chr 7:114,505,152...114,598,546
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G |
Pcyt1b |
phosphate cytidylyltransferase 1B, choline |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr X:58,378,090...58,471,623
Ensembl chr X:58,378,116...58,468,935
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G |
Per1 |
period circadian regulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
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G |
Pgm5 |
phosphoglucomutase 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:222,325,638...222,513,423
Ensembl chr 1:222,325,643...222,513,437
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G |
Plaur |
plasminogen activator, urokinase receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:80,053,441...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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G |
Plk2 |
polo-like kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 2:41,969,176...41,974,945
Ensembl chr 2:41,969,176...41,974,947
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|
G |
Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
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G |
Pros1 |
protein S |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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|
G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
|
ISO |
DNA: snp : cds : rs2476601 |
RGD |
PMID:15934099 |
RGD:6484550 |
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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G |
R3hdm2 |
R3H domain containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 7:63,212,519...63,340,574
Ensembl chr 7:63,232,346...63,340,540
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|
G |
Rasgef1b |
RasGEF domain family, member 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr14:9,859,512...10,380,044
Ensembl chr14:9,860,247...10,379,741
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|
G |
Rbm47 |
RNA binding motif protein 47 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr14:42,053,290...42,191,572
Ensembl chr14:42,154,142...42,189,431
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|
G |
Rere |
arginine-glutamic acid dipeptide repeats |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677
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|
G |
RGD1359108 |
similar to RIKEN cDNA 3110043O21 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408
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|
G |
Rhobtb1 |
Rho-related BTB domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr20:19,327,142...19,456,121
Ensembl chr20:19,327,155...19,403,012
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|
G |
Rnf103 |
ring finger protein 103 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:103,526,456...103,542,529
Ensembl chr 4:103,526,502...103,555,919
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|
G |
RT1-Ba |
RT1 class II, locus Ba |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:19811310 PMID:10457895 |
RGD:5147815, RGD:5147863 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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|
G |
RT1-Bb |
RT1 class II, locus Bb |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:10457895 |
RGD:5147863 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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|
G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:19908388 PMID:10457895 |
RGD:5147587, RGD:5147863 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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|
G |
Selp |
selectin P |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:21124648 |
RGD:6219006 |
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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|
G |
Sh2d2a |
SH2 domain containing 2A |
|
ISO |
|
RGD |
PMID:15129233 |
RGD:2298870 |
NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
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|
G |
Sh3bgrl2 |
SH3 domain binding glutamate-rich protein like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 8:84,461,019...84,553,124
Ensembl chr 8:84,461,121...84,551,564
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|
G |
Sik1 |
salt-inducible kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
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|
G |
Sipa1l1 |
signal-induced proliferation-associated 1 like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 6:101,839,351...102,118,408
Ensembl chr 6:101,839,404...102,116,950
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|
G |
Slc11a1 |
solute carrier family 11 member 1 |
|
ISO |
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16597321 PMID:10857800 |
RGD:5684977 |
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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|
G |
Slc22a16 |
solute carrier family 22 member 16 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr20:43,972,808...44,068,447
Ensembl chr20:43,972,836...44,065,019
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|
G |
Slc26a2 |
solute carrier family 26 member 2 |
susceptibility |
ISO |
DNA:SNPs: : |
RGD |
PMID:17393463 |
RGD:13208931 |
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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|
G |
Slc2a3 |
solute carrier family 2 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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|
G |
Smad3 |
SMAD family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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|
G |
Stab1 |
stabilin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr16:6,330,435...6,360,934
Ensembl chr16:6,330,444...6,360,923
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|
G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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|
G |
Stim1 |
stromal interaction molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
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|
G |
Tcf7l2 |
transcription factor 7 like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967
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|
G |
Tfdp1 |
transcription factor Dp-1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr16:76,162,040...76,200,871
Ensembl chr16:76,162,043...76,200,817
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G |
Tfpi |
tissue factor pathway inhibitor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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|
G |
Thbd |
thrombomodulin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15209962 |
RGD:5685023 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Thbs1 |
thrombospondin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 3:105,056,286...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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|
G |
Tnfaip6 |
TNF alpha induced protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
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|
G |
Tnfaip8 |
TNF alpha induced protein 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr18:43,183,854...43,299,517
Ensembl chr18:43,183,916...43,299,517
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G |
Tnfrsf22 |
tumor necrosis factor receptor superfamily, member 22 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:198,840,452...198,860,713
Ensembl chr 1:198,840,453...198,856,309
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|
G |
Tnik |
TRAF2 and NCK interacting kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 2:111,184,352...111,587,993
Ensembl chr 2:111,184,387...111,580,750
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|
G |
Treml1 |
triggering receptor expressed on myeloid cells-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 9:12,635,584...12,642,929
Ensembl chr 9:12,635,590...12,642,347
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|
G |
Ttll5 |
tubulin tyrosine ligase like 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934
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|
G |
Tubb2a |
tubulin, beta 2A class IIa |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714
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|
G |
Ube2e1 |
ubiquitin-conjugating enzyme E2E 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr15:7,439,502...7,493,410
Ensembl chr15:7,439,759...7,493,400
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|
G |
Ube3c |
ubiquitin protein ligase E3C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:5,648,932...5,749,922
Ensembl chr 4:5,648,690...5,750,011
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G |
Wasf3 |
WASP family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr12:8,563,805...8,660,799
Ensembl chr12:8,562,062...8,660,751
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|
G |
Wwox |
WW domain-containing oxidoreductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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|
G |
Zfand3 |
zinc finger AN1-type containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr20:8,083,407...8,279,617
Ensembl chr20:8,082,200...8,279,616
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G |
Zfc3h1 |
zinc finger, C3H1-type containing |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 7:51,008,251...51,064,666
Ensembl chr 7:51,007,984...51,064,661
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G |
Anxa2 |
annexin A2 |
disease_progression |
ISO |
protein:increased expression:chondrocyte: |
RGD |
PMID:10903884 |
RGD:10053727 |
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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G |
Anxa5 |
annexin A5 |
disease_progression |
ISO |
protein:increased expression:chondrocyte: |
RGD |
PMID:10903884 |
RGD:10053727 |
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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G |
Ar |
androgen receptor |
|
ISO |
DNA:repeat:exon:c.172(CAG)8-34 (human) |
RGD |
PMID:16098017 |
RGD:10043199 |
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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G |
Aspn |
asporin |
severity |
ISO |
mRNA:increased expression:cartilage: DNA:repeats:exon: |
RGD |
PMID:15640800 PMID:15640800 |
RGD:9684965, RGD:9684965 |
NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
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G |
B2m |
beta-2 microglobulin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:18795399 |
RGD:6482710 |
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:20131282 |
RGD:6907382 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:20131282 |
RGD:6907382 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Bglap |
bone gamma-carboxyglutamate protein |
|
ISO IDA |
|
RGD |
PMID:22294259 PMID:21387139 |
RGD:6483563, RGD:6483595 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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|
G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
mRNA,protein:increased expression:dorsal root ganglion: |
RGD |
PMID:23185004 |
RGD:8661785 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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|
G |
Cd36 |
CD36 molecule |
disease_progression |
ISO IEP |
|
RGD |
PMID:21765106 PMID:19342682 |
RGD:6893494, RGD:6893565 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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|
G |
Ctnnb1 |
catenin beta 1 |
|
IEP |
protein:increased expression:cartilage: |
RGD |
PMID:22702043 |
RGD:10395278 |
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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|
G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
|
ISO |
DNA:SNP:intron, 5' utr: (rs1062033) (human) |
RGD |
PMID:20417295 |
RGD:10045662 |
NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
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|
G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
ameliorates |
IEP |
|
RGD |
PMID:31258642 |
RGD:150519887 |
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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|
G |
Dgat2 |
diacylglycerol O-acyltransferase 2 |
severity |
ISO |
mRNA,protein:increased expression:fat pad: |
RGD |
PMID:21765106 |
RGD:6893494 |
NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
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G |
Dkk1 |
dickkopf WNT signaling pathway inhibitor 1 |
|
IMP |
|
RGD |
PMID:20131282 |
RGD:6907382 |
NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202
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|
G |
Eef1a1 |
eukaryotic translation elongation factor 1 alpha 1 |
|
IEP |
|
RGD |
PMID:25435813 |
RGD:13506963 |
NCBI chr 8:79,341,554...79,344,784
Ensembl chr 8:79,341,557...79,344,839
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G |
Efemp1 |
EGF containing fibulin extracellular matrix protein 1 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:22275171 |
RGD:10401792 |
NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
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|
G |
Epas1 |
endothelial PAS domain protein 1 |
no_association |
ISO |
DNA:SNP:5' utr: (rs17039192) (human) |
RGD |
PMID:22247019 PMID:20495570 |
RGD:10395367, RGD:10395368 |
NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
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G |
Epo |
erythropoietin |
treatment |
ISO |
|
RGD |
PMID:25422652 |
RGD:10400892 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Esr1 |
estrogen receptor 1 |
|
ISO |
DNA:repeat:promoter:-1174(TA)9-25 (human) DNA:polymorphisms, haplotype:intron, exon DNA:SNP:cds:c.1782G>A (rs2228480) (human) DNA:SNPs:intron: (rs2234693, rs9340799) (human) |
RGD |
PMID:16098017 PMID:15380041 PMID:20128071 PMID:24772413 |
RGD:10043199, RGD:10045840, RGD:10045835, RGD:10045829 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Esr2 |
estrogen receptor 2 |
|
ISO |
DNA:repeat:intron:c.1092+3607(CA)13-27 (human) |
RGD |
PMID:16098017 |
RGD:10043199 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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|
G |
F2 |
coagulation factor II |
|
ISO |
|
RGD |
PMID:21041276 |
RGD:5147774 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
treatment |
ISO |
|
RGD |
PMID:27159076 |
RGD:11568056 |
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30374069 |
|
NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
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|
G |
Gsr |
glutathione-disulfide reductase |
|
ISO |
protein:increased expression:synovial fluid |
RGD |
PMID:16289733 |
RGD:10401830 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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|
G |
Hmgb1 |
high mobility group box 1 |
severity |
ISO |
protein:increased expression:synovial fluid mRNA:decreased expression:articular cartilage |
RGD |
PMID:21968272 PMID:19139395 |
RGD:10402061, RGD:10402184 |
NCBI chr12:5,973,062...5,978,565
Ensembl chr12:5,901,586...5,978,565
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|
G |
Hmgb2 |
high mobility group box 2 |
severity |
ISO |
mRNA:decreased expression:articular cartilage |
RGD |
PMID:19139395 PMID:19139395 |
RGD:10402184, RGD:10402184 |
NCBI chr16:32,710,651...32,713,230
Ensembl chr16:32,710,658...32,713,140
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G |
Hsp90aa1 |
heat shock protein 90 alpha family class A member 1 |
|
ISO |
mRNA:increased expression:tibial plateaux (mouse) mRNA:decreased expression:blood (human) |
RGD |
PMID:9497939 PMID:16139532 |
RGD:10412655, RGD:10429075 |
NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
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|
G |
Igf1 |
insulin-like growth factor 1 |
disease_progression severity |
ISO IEP |
protein:decreased expression:plasma (rat) mRNA:increased expression:meniscus: |
RGD |
PMID:8461919 PMID:17133593 PMID:9497937 PMID:20633672 |
RGD:10045862, RGD:10003130, RGD:10046057, RGD:10045868 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
|
RGD |
PMID:8948288 |
RGD:10045874 |
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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G |
Il1a |
interleukin 1 alpha |
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IEP ISO |
protein:increased expression:cartilage cell: |
RGD |
PMID:24534736 PMID:9497937 PMID:9034998 |
RGD:10045944, RGD:10046057, RGD:10045946 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il2 |
interleukin 2 |
severity |
ISO |
protein:increased expression:synovial fluid: |
RGD |
PMID:22035391 |
RGD:5687147 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il4 |
interleukin 4 |
susceptibility |
IDA ISO |
DNA:repeat:intron: (rs8179190) (human) |
RGD |
PMID:18182309 PMID:24406619 |
RGD:2317291, RGD:10402787 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Kl |
Klotho |
susceptibility |
ISO |
DNA:SNPs:promoter,exon:395G>A,2998C>T(human) |
RGD |
PMID:18465812 |
RGD:10403041 |
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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G |
Lep |
leptin |
|
ISO |
protein:decreased expression:serum: |
RGD |
PMID:23575542 |
RGD:10411887 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Lepr |
leptin receptor |
susceptibility |
ISO |
protein:increased expression:serum: DNA:SNP:cds:668A>G(human) |
RGD |
PMID:23575542 PMID:23575542 |
RGD:10411887, RGD:10411887 |
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Lpar1 |
lysophosphatidic acid receptor 1 |
susceptibility |
ISO |
DNA:snp:promoter:g.-2820G>A (rs10980705) (human) |
RGD |
PMID:18325907 |
RGD:10054291 |
NCBI chr 5:73,229,047...73,347,874
Ensembl chr 5:73,229,625...73,369,895
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G |
Ltbp1 |
latent transforming growth factor beta binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30374069 |
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NCBI chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349
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G |
Mir223 |
microRNA 223 |
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IEP |
RNA:increased expression:synovial membrane |
RGD |
PMID:30106113 |
RGD:25824950 |
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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G |
Mmp1 |
matrix metallopeptidase 1 |
treatment |
IEP |
|
RGD |
PMID:21167838 |
RGD:8549737 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp13 |
matrix metallopeptidase 13 |
ameliorates |
IEP |
|
RGD |
PMID:31258642 |
RGD:150519887 |
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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G |
Mmp3 |
matrix metallopeptidase 3 |
treatment |
IMP |
|
RGD |
PMID:22114772 |
RGD:8694098 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Penk |
proenkephalin |
treatment |
IEP |
|
RGD |
PMID:21928671 |
RGD:10003115 |
NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129
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G |
Ptges |
prostaglandin E synthase |
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IEP |
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RGD |
PMID:17530714 |
RGD:2300093 |
NCBI chr 3:14,177,892...14,189,236
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G |
Sbno1 |
strawberry notch homolog 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30374069 |
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NCBI chr12:32,175,176...32,234,200
Ensembl chr12:32,185,485...32,230,158
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G |
Slc26a2 |
solute carrier family 26 member 2 |
susceptibility |
ISO |
DNA:deletion:promoter:-716_-713del4A(human) |
RGD |
PMID:11558903 |
RGD:13208866 |
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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G |
Tgfa |
transforming growth factor alpha |
|
IEP |
protein:increased expression:cartilage |
RGD |
PMID:17968906 |
RGD:2317486 |
NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
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G |
Vdr |
vitamin D receptor |
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ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Wwp2 |
WW domain containing E3 ubiquitin protein ligase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30374069 |
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NCBI chr19:35,346,826...35,471,251
Ensembl chr19:35,346,814...35,472,699
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISS |
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MouseDO |
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Cacna1b |
calcium voltage-gated channel subunit alpha1 B |
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ISO |
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RGD |
PMID:16289869 |
RGD:1626312 |
NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
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G |
Chrm1 |
cholinergic receptor, muscarinic 1 |
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ISO |
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RGD |
PMID:17764462 |
RGD:5133415 |
NCBI chr 1:205,567,046...205,583,001
Ensembl chr 1:205,567,220...205,582,356
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G |
Cav1 |
caveolin 1 |
susceptibility no_association |
ISO |
DNA:SNPs:enhancer, intron:multiple DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human) |
RGD |
PMID:22402147 PMID:22402147 |
RGD:8661768, RGD:8661768 |
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
mRNA,protein:increased expression:skin: |
RGD |
PMID:12925209 |
RGD:8661733 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
mRNA,protein:increased expression:skin: |
RGD |
PMID:12925209 |
RGD:8661733 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Fas |
Fas cell surface death receptor |
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ISO |
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RGD |
PMID:17102953 |
RGD:12903974 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
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ISO |
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RGD |
PMID:17102953 |
RGD:12903974 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Il2 |
interleukin 2 |
susceptibility |
ISO |
DNA:polymorphism::-384T>G(human) |
RGD |
PMID:17444587 |
RGD:4142872 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Jak2 |
Janus kinase 2 |
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ISO |
|
RGD |
PMID:20808962 |
RGD:4892610 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Kdr |
kinase insert domain receptor |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:19886888 |
RGD:8551850 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Pgf |
placental growth factor |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:22461185 |
RGD:6483571 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
mRNA,protein:increased expression:skin: |
RGD |
PMID:15730388 |
RGD:13208597 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Stat4 |
signal transducer and activator of transcription 4 |
no_association susceptibility |
ISO |
DNA:SNPs:introns: (rs10168266, rs3821236) (human) DNA:SNP:intron: (rs7574865) (human) |
RGD |
PMID:23755762 PMID:23755762 PMID:19286670 |
RGD:8661701, RGD:8661701, RGD:8661714 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
susceptibility |
ISO |
|
RGD |
PMID:16112028 |
RGD:1578361 |
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
mRNA:increased expression:dermis |
RGD |
PMID:15727634 |
RGD:5688298 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
ISO |
mRNA,protein:increased expression:skin: |
RGD |
PMID:15803328 |
RGD:8662838 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15863969 |
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NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Hgf |
hepatocyte growth factor |
treatment |
ISO |
|
RGD |
PMID:14712301 |
RGD:8548627 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:7916356 |
RGD:8158116 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Il13 |
interleukin 13 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:12920362 |
RGD:8549537 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Lmna |
lamin A/C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15726408 |
|
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
|
RGD |
PMID:9804345 |
RGD:1582543 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
|
RGD |
PMID:7510487 |
RGD:7394847 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9843018 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Cd1d1 |
CD1d1 molecule |
ameliorates |
ISO |
|
RGD |
PMID:14561706 |
RGD:127345108 |
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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G |
Ager |
advanced glycosylation end product-specific receptor |
|
ISO |
DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) |
RGD |
PMID:22513366 |
RGD:6767309 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Apoc3 |
apolipoprotein C3 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:17957542 |
RGD:7207211 |
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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G |
C3 |
complement C3 |
|
ISO |
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:31182691 PMID:21888025 |
RGD:7175544 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
severity susceptibility |
ISO |
protein:increased expression:urine (human) DNA:snp:promoter:g.-2518A>G (human) |
RGD |
PMID:8558841 PMID:15188361 |
RGD:8549732, RGD:11528534 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
|
ISO |
|
RGD |
PMID:18187931 |
RGD:7241814 |
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
disease_progression |
ISO |
|
RGD |
PMID:15153561 |
RGD:5688164 |
NCBI chr 8:123,556,286...123,561,841
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G |
Cd40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:23799000 PMID:18566369 PMID:19265127 |
RGD:7248418, RGD:7248429, RGD:7248425 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
treatment |
ISO |
protein:increased expression:serum |
RGD |
PMID:20726330 PMID:11751940 PMID:12632425 PMID:13130474 PMID:15693003 |
RGD:7248426, RGD:7248714, RGD:7248710, RGD:7248600, RGD:7248439 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Cfb |
complement factor B |
|
ISO |
|
RGD |
PMID:10623824 PMID:3183062 PMID:21893562 |
RGD:7242736, RGD:7242763, RGD:7242755 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Cfh |
complement factor H |
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ISO |
|
RGD |
PMID:22171659 |
RGD:5684551 |
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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G |
Clu |
clusterin |
|
ISO |
mRNA:increased expression: epithelial cell of renal tubule |
RGD |
PMID:9546356 |
RGD:8890679 |
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
associated with Graft vs Host Disease mRNA, protein:increased expression:kidney cortex |
RGD |
PMID:21354048 PMID:7700025 PMID:7723234 |
RGD:5688301, RGD:5688333, RGD:5688332 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Crp |
C-reactive protein |
no_association |
ISO |
|
RGD |
PMID:18852001 PMID:20039408 PMID:15692982 |
RGD:6907400, RGD:6909146, RGD:6909145 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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G |
Csf1 |
colony stimulating factor 1 |
|
ISO |
|
RGD |
PMID:21885670 PMID:17659436 |
RGD:7257567, RGD:7257589 |
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
|
RGD |
PMID:15146424 |
RGD:7204726 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Egf |
epidermal growth factor |
|
ISO |
|
RGD |
PMID:21354048 |
RGD:5688301 |
NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
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G |
Fas |
Fas cell surface death receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33632240 |
|
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fcgr2a |
Fc gamma receptor 2A |
|
ISO |
DNA:missense mutation:cds:p.H131R (human) ClinVar Annotator: match by term: Lupus nephritis, susceptibility to |
ClinVar RGD |
PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 PMID:19965803 PMID:24033266 PMID:15004265 More...
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RGD:5147975 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fcgr2b |
Fc gamma receptor 2B |
|
ISO |
|
RGD |
PMID:15681388 |
RGD:7240529 |
NCBI chr13:83,191,253...83,207,776
Ensembl chr13:83,193,163...83,207,778
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G |
Ifng |
interferon gamma |
|
ISO |
protein:increased expression:serum,urine CTD Direct Evidence: marker/mechanism protein:increased processing:kidney |
CTD RGD |
PMID:31182691 PMID:22764573 PMID:29925830 |
RGD:6893369, RGD:14974252 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il17a |
interleukin 17A |
treatment |
ISO |
|
RGD |
PMID:25129462 |
RGD:9244623 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il18 |
interleukin 18 |
|
ISO |
|
RGD |
PMID:20980973 |
RGD:6893449 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1b |
interleukin 1 beta |
|
ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:21641991 PMID:20410215 |
RGD:7175315, RGD:7175344 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
resistance |
ISO |
associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human) |
RGD |
PMID:20538031 |
RGD:6907068 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Itgam |
integrin subunit alpha M |
|
ISO |
|
RGD |
PMID:21719445 |
RGD:5147916 |
NCBI chr 1:182,659,047...182,709,495
Ensembl chr 1:182,659,000...182,709,503
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G |
Jak1 |
Janus kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31182691 |
|
NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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G |
Klkb1 |
kallikrein B1 |
susceptibility |
ISO |
DNA:SNPs:promoter: |
RGD |
PMID:19307730 |
RGD:7327150 |
NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
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G |
Mbl2 |
mannose binding lectin 2 |
disease_progression |
ISO |
DNA:polymorphism:exon: |
RGD |
PMID:24850777 |
RGD:12910847 |
NCBI chr 1:228,016,439...228,024,736
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G |
Mir125a |
microRNA 125a |
|
IEP |
RNA:decreased expression:kidney |
RGD |
PMID:30972208 |
RGD:26884458 |
NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
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|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22479529 |
|
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22479529 |
|
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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|
G |
Mpo |
myeloperoxidase |
susceptibility |
ISO |
DNA:polymorphism: :−463G > A (human) |
RGD |
PMID:17896805 |
RGD:7174701 |
NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
|
RGD |
PMID:17283580 |
RGD:7245502 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Muc20 |
mucin 20, cell surface associated |
|
ISO |
|
RGD |
PMID:14565953 |
RGD:7364790 |
NCBI chr11:67,987,729...68,003,997
Ensembl chr11:67,987,800...68,001,495
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
|
ISO |
|
RGD |
PMID:21509671 PMID:17880936 |
RGD:7174713, RGD:7174734 |
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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G |
Otub1 |
OTU deubiquitinase, ubiquitin aldehyde binding 1 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:22279542 |
RGD:7175260 |
NCBI chr 1:204,387,215...204,395,495
Ensembl chr 1:204,387,215...204,395,483
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|
G |
Pdcd1 |
programmed cell death 1 |
onset |
ISO |
DNA:polymorphism: : DNA:polymorphism:intron:6867 C>T (human) |
RGD |
PMID:15934088 PMID:21041733 PMID:15352422 |
RGD:7248675, RGD:7248678, RGD:7248676 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-DQA1*0101 (human) DNA:polymorphisms:cds:HLA-DQA1*0102 (human) |
RGD |
PMID:12651073 |
RGD:40902999 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-DRB1*1501 (human) |
RGD |
PMID:12651073 |
RGD:40902999 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Sell |
selectin L |
|
ISO |
|
RGD |
PMID:20512127 |
RGD:7175284 |
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
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G |
Serping1 |
serpin family G member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4014294 |
|
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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|
G |
Snrpe |
small nuclear ribonucleoprotein polypeptide E |
treatment |
IDA |
mouse model |
RGD |
PMID:15494537 |
RGD:10760401 |
NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
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G |
Stat1 |
signal transducer and activator of transcription 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31182691 |
|
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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G |
Stat4 |
signal transducer and activator of transcription 4 |
|
ISO |
|
RGD |
PMID:20980973 |
RGD:6893449 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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G |
Stat6 |
signal transducer and activator of transcription 6 |
disease_progression |
ISO |
|
RGD |
PMID:12874250 |
RGD:7244140 |
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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G |
Tlr7 |
toll-like receptor 7 |
|
ISO |
|
RGD |
PMID:19944565 |
RGD:7246905 |
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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G |
Tlr9 |
toll-like receptor 9 |
severity treatment no_association |
ISO |
mRNA, protein:increased expression:kidney (mouse) associated with Graft vs Host Disease protein:increased expression:renal glomerulus (human) associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian) DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese) |
RGD |
PMID:23467932 PMID:17469139 PMID:21127878 PMID:19578108 PMID:22787315 PMID:20497632 More...
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RGD:7245987, RGD:7246911, RGD:7246897, RGD:7246896, RGD:7245989, RGD:7246884 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:glomerular mesangial cell |
RGD |
PMID:7750940 |
RGD:7394786 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
|
ISO |
associated with Lupus Erythematosus, Systemic;protein:increased expression:urine |
RGD |
PMID:21691937 |
RGD:7205483 |
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
severity |
ISO |
|
RGD |
PMID:19201910 PMID:10906156 |
RGD:7245569, RGD:7245572 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
treatment |
ISO |
|
RGD |
PMID:22846145 PMID:22674120 |
RGD:7245541, RGD:7245544 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
severity |
ISO |
protein:increased expression:urine |
RGD |
PMID:22788914 |
RGD:7241032 |
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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G |
Fcgr3a |
Fc gamma receptor 3A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26773105 |
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NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Ina |
internexin neuronal intermediate filament protein, alpha |
severity |
ISO |
|
RGD |
PMID:20559547 |
RGD:40886275 |
NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330
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G |
Itgam |
integrin subunit alpha M |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26773105 |
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NCBI chr 1:182,659,047...182,709,495
Ensembl chr 1:182,659,000...182,709,503
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G |
Selp |
selectin P |
|
ISO |
|
RGD |
PMID:20179168 |
RGD:6478687 |
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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G |
Fas |
Fas cell surface death receptor |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:9182923 |
RGD:8662437 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fbn1 |
fibrillin 1 |
|
ISO |
|
RGD |
PMID:10395706 |
RGD:12910471 |
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Ifng |
interferon gamma |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:19684145 |
RGD:8142347 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
DNA:polymorphism:cds:HLA-DRB1*04 (human) |
RGD |
PMID:12559632 |
RGD:5147801 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Snrpb |
small nuclear ribonucleoprotein polypeptides B and B1 |
|
ISO |
|
RGD |
PMID:2968364 |
RGD:10448928 |
NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339
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G |
Snrpc |
small nuclear ribonucleoprotein polypeptide C |
|
ISO |
associated with Hypertension, Pulmonary |
RGD |
PMID:10555891 |
RGD:10766447 |
NCBI chr20:5,888,453...5,906,638
Ensembl chr20:5,888,453...5,906,638
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G |
Tlr3 |
toll-like receptor 3 |
|
ISO |
|
RGD |
PMID:16453294 |
RGD:5129221 |
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:19684145 |
RGD:8142347 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Ache |
acetylcholinesterase |
|
ISO |
|
RGD |
PMID:17986328 |
RGD:5509842 |
NCBI chr12:19,407,359...19,413,713
Ensembl chr12:19,407,360...19,413,651
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G |
Adrb2 |
adrenoceptor beta 2 |
|
ISO |
DNA:polymorphisms:cds:p.R16G,Q27E(human) |
RGD |
PMID:10606977 |
RGD:8548470 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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G |
Cfb |
complement factor B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6605118 |
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NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Chrm1 |
cholinergic receptor, muscarinic 1 |
|
ISO |
|
RGD |
PMID:17764462 |
RGD:5133415 |
NCBI chr 1:205,567,046...205,583,001
Ensembl chr 1:205,567,220...205,582,356
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
|
RGD |
PMID:15843529 |
RGD:1598501 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
ISO |
|
RGD |
PMID:15843529 |
RGD:1598501 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Cyp3a9 |
cytochrome P450, family 3, subfamily a, polypeptide 9 |
|
ISO |
ClinVar Annotator: match by term: refractory myasthenia gravis |
ClinVar |
PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926 |
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NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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G |
Esr2 |
estrogen receptor 2 |
|
ISO |
|
RGD |
PMID:15661863 |
RGD:5509039 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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G |
Fas |
Fas cell surface death receptor |
|
ISO |
protein:increased expression:peripheral blood, T lymphocyte (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15169653 PMID:23043710 |
RGD:8662430 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Il2rb |
interleukin 2 receptor subunit beta |
|
ISO |
DNA:SNP, haplotype:intron:c.-33-11362T>C (rs743777) (human) |
RGD |
PMID:20728947 |
RGD:5684377 |
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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G |
Musk |
muscle associated receptor tyrosine kinase |
treatment severity |
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:serum (human) |
CTD RGD |
PMID:22981737 PMID:27119269 PMID:22218276 PMID:26025053 |
RGD:38599166, RGD:38599165 |
NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
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G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:4323972 |
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NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
|
ISO |
DNA: snp: cds: 1858T |
RGD |
PMID:19693092 |
RGD:6484722 |
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphisms: :HLA-DQA1*0101/2, HLA-DQA1*0501 (human) DNA:polymorphisms, haplotype:cds:HLA-DQA!*0501, HLA-DQA1*0301 (human) |
RGD |
PMID:19561379 PMID:10593018 |
RGD:5147612, RGD:5147855 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphisms: :HLA-DBQ1*0301, HLA-DBQ1*0502, HLA-DBQ1*0602/3 (human) DNA:polymorphism, haplotype:cds:HLA-DQB1*0302 (human) |
RGD |
PMID:19561379 PMID:10593018 |
RGD:5147612, RGD:5147855 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility onset |
ISO |
DNA:polymorphism: :HLA-DRB1∗09,HLA- DRB1∗08(human) DNA:polymorphism: :HLA-DRB1*0901, HLA-DRB1*1302(human) |
RGD |
PMID:21924912 PMID:15003812 |
RGD:7365051, RGD:7365079 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Zscan25 |
zinc finger and SCAN domain containing 25 |
|
ISO |
ClinVar Annotator: match by term: refractory myasthenia gravis |
ClinVar |
PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926 |
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NCBI chr12:9,327,347...9,338,206
Ensembl chr12:9,326,404...9,338,221
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G |
Serpina1 |
serpin family A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3259592 PMID:6982619 |
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NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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G |
Acaa2 |
acetyl-CoA acyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249
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G |
Acan |
aggrecan |
treatment |
ISO IEP |
|
RGD |
PMID:22833446 PMID:21853458 |
RGD:11570535, RGD:11570544 |
NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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G |
Aco1 |
aconitase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr 5:55,259,841...55,315,872
Ensembl chr 5:55,259,827...55,316,391
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G |
Actb |
actin, beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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G |
Adam12 |
ADAM metallopeptidase domain 12 |
susceptibility |
ISO |
|
RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 1:188,686,984...189,014,206
Ensembl chr 1:188,686,989...189,020,667
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G |
Adam15 |
ADAM metallopeptidase domain 15 |
|
ISO |
|
RGD |
PMID:15818704 |
RGD:1559176 |
NCBI chr 2:174,754,631...174,765,136
Ensembl chr 2:174,754,633...174,765,113
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G |
Adamts14 |
ADAM metallopeptidase with thrombospondin type 1 motif, 14 |
|
ISO |
DNA:missense mutation:cds: (rs4747096) (human) |
RGD |
PMID:18790654 |
RGD:6771189 |
NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
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G |
Adamts4 |
ADAM metallopeptidase with thrombospondin type 1 motif, 4 |
treatment |
ISO |
associated with Bone Diseases, Metabolic |
RGD |
PMID:22432033 |
RGD:10043110 |
NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065
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G |
Adamts5 |
ADAM metallopeptidase with thrombospondin type 1 motif, 5 |
treatment disease_progression no_association |
ISO IEP IMP |
associated with Bone Diseases, Metabolic mRNA:increased expression:cartilage protein:alternative form:synovium DNA:missense mutations:exon: (rs226794, rs2830585) (human) DNA:missense mutation:exon:p.R614H (human) |
RGD |
PMID:23982761 PMID:22432033 PMID:17530714 PMID:22084394 PMID:23954517 PMID:11801682 PMID:18240210 PMID:23546441 PMID:22961118 More...
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RGD:10043101, RGD:10043110, RGD:2300093, RGD:10003165, RGD:10043107, RGD:10043106, RGD:10043105, RGD:10043103, RGD:10043102 |
NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205
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G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17568789 |
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NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
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G |
Ager |
advanced glycosylation end product-specific receptor |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16948116 PMID:23894457 |
RGD:8695985 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Ak4 |
adenylate kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr 5:116,039,222...116,099,064
Ensembl chr 5:116,039,616...116,098,618
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G |
Akr1c1 |
aldo-keto reductase family 1, member C1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
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G |
Akr1c2 |
aldo-keto reductase family 1, member C2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
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NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
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G |
Aldh1a2 |
aldehyde dehydrogenase 1 family, member A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24728293 |
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NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107
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G |
Aspn |
asporin |
no_association susceptibility |
ISO |
DNA:repeats:exon: CTD Direct Evidence: marker/mechanism |
CTD OMIM RGD |
PMID:16542493 |
RGD:9684966 |
NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
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G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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G |
Atp6v1b2 |
ATPase H+ transporting V1 subunit B2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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G |
Atp7a |
ATPase copper transporting alpha |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 |
MouseDO |
|
|
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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G |
Bad |
BCL2-associated agonist of cell death |
|
ISO |
|
RGD |
PMID:19217321 |
RGD:10053643 |
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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G |
Bag6 |
BAG cochaperone 6 |
susceptibility |
ISO |
DNA:SNP: :rs3117582(human) |
RGD |
PMID:25231575 |
RGD:14390133 |
NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657
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G |
Bax |
BCL2 associated X, apoptosis regulator |
|
ISO |
protein:increased expression:chondrocyte |
RGD |
PMID:19217321 PMID:16864079 |
RGD:10053643, RGD:10054095 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO |
protein:increased expression:chondrocyte |
RGD |
PMID:19217321 PMID:16864079 |
RGD:10053643, RGD:10054095 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Becn1 |
beclin 1 |
|
ISO |
protein:decreased expression:cartilage |
RGD |
PMID:20187128 PMID:20187128 |
RGD:6483317, RGD:6483317 |
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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G |
Bglap |
bone gamma-carboxyglutamate protein |
disease_progression |
ISO |
|
RGD |
PMID:20157712 |
RGD:6483599 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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|
G |
Bmp2 |
bone morphogenetic protein 2 |
susceptibility |
ISO |
|
RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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G |
Bmp4 |
bone morphogenetic protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20008919 |
|
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Bmp6 |
bone morphogenetic protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20008919 |
|
NCBI chr17:26,318,121...26,469,034
Ensembl chr17:26,318,569...26,470,365
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G |
Bmp7 |
bone morphogenetic protein 7 |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 |
MouseDO |
|
|
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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G |
Bmpr1a |
bone morphogenetic protein receptor type 1A |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 |
MouseDO |
|
|
NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
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G |
Calca |
calcitonin-related polypeptide alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16690336 |
|
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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G |
Casp3 |
caspase 3 |
treatment |
IEP |
|
RGD |
PMID:29138829 |
RGD:13782343 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Casp9 |
caspase 9 |
treatment |
IEP |
|
RGD |
PMID:29138829 |
RGD:13782343 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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G |
Cav1 |
caveolin 1 |
|
IEP |
|
RGD |
PMID:16508959 |
RGD:10043354 |
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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|
G |
Ccl22 |
C-C motif chemokine ligand 22 |
|
ISO |
protein:increased expression:plasma: |
RGD |
PMID:19942450 |
RGD:10054497 |
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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G |
Ccr4 |
C-C motif chemokine receptor 4 |
|
ISO |
protein:increased expression:synovial membrane: |
RGD |
PMID:19942450 |
RGD:10054497 |
NCBI chr 8:114,176,256...114,182,155
Ensembl chr 8:114,176,974...114,178,056
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G |
Cd36 |
CD36 molecule |
susceptibility |
ISO |
|
RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
treatment |
IEP |
|
RGD |
PMID:24009074 |
RGD:10043190 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cebpb |
CCAAT/enhancer binding protein beta |
susceptibility |
ISO |
|
RGD |
PMID:22095691 |
RGD:10401214 |
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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|
G |
Chi3l1 |
chitinase 3 like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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G |
Cilp |
cartilage intermediate layer protein |
disease_progression |
ISO |
|
RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251
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|
G |
Clec3b |
C-type lectin domain family 3, member B |
disease_progression |
ISO |
|
RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 8:122,810,091...122,817,039
Ensembl chr 8:122,810,149...122,815,835
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|
G |
Clic1 |
chloride intracellular channel 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712
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G |
Clic4 |
chloride intracellular channel 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 5:147,456,819...147,513,278
Ensembl chr 5:147,453,712...147,513,452
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G |
Clu |
clusterin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17568789 PMID:18784066 |
|
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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G |
Col11a1 |
collagen type XI alpha 1 chain |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 |
MouseDO |
|
|
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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|
G |
Col1a1 |
collagen type I alpha 1 chain |
no_association |
ISO |
DNA:SNP:intron:IVS1 |
RGD |
PMID:10743824 |
RGD:5688331 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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|
G |
Col2a1 |
collagen type II alpha 1 chain |
onset treatment |
ISO IDA |
DNA:missense mutation:exon:p.R75C (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9061443 PMID:16189708 PMID:16755660 PMID:19216861 |
RGD:8657384, RGD:8661226 |
NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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|
G |
Col6a2 |
collagen type VI alpha 2 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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G |
Col9a1 |
collagen type IX alpha 1 chain |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 |
MouseDO |
|
|
NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
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G |
Comp |
cartilage oligomeric matrix protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7670472 |
|
NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845
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G |
Ctsd |
cathepsin D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
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G |
Ctsk |
cathepsin K |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30664745 |
|
NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
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|
G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15292528 |
|
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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|
G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15292528 |
|
NCBI chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093
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|
G |
Dapp1 |
dual adaptor of phosphotyrosine and 3-phosphoinositides 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 2:226,425,890...226,475,445
Ensembl chr 2:226,425,898...226,475,423
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|
G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
disease_progression |
ISO |
|
RGD |
PMID:24938620 |
RGD:150429973 |
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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G |
Ddx3x |
DEAD-box helicase 3, X-linked |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr X:9,479,532...9,493,455
Ensembl chr X:9,479,532...9,493,168
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|
G |
Dpep1 |
dipeptidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30664745 |
|
NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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G |
Dpysl2 |
dihydropyrimidinase-like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr15:41,005,551...41,111,724
Ensembl chr15:41,005,551...41,111,829
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G |
Edil3 |
EGF like repeats and discoidin domains 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 2:19,890,396...20,405,028
Ensembl chr 2:19,890,373...20,405,008
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G |
Eef2 |
eukaryotic translation elongation factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183
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G |
Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
|
IEP |
mRNA:increased expression:articular cartilage of joint (rat) |
RGD |
PMID:31396630 |
RGD:42722015 |
NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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G |
Egr1 |
early growth response 1 |
|
ISO |
|
RGD |
PMID:10806043 |
RGD:1626498 |
NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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G |
Eno1 |
enolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
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|
G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 |
MouseDO |
|
|
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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G |
Epas1 |
endothelial PAS domain protein 1 |
|
ISO |
protein:increased expression:layer of synovial tissue, stromal cell mRNA:increased expression:cartilage |
RGD |
PMID:21869830 PMID:12823854 PMID:20495569 PMID:20495569 |
RGD:10395364, RGD:10395366, RGD:10395365, RGD:10395365 |
NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
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G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
|
ISO |
mRNA:decreased expression:knee, articular cartilage of joint |
RGD |
PMID:24964749 |
RGD:10045611 |
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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G |
Erg |
ETS transcription factor ERG |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 |
MouseDO |
|
|
NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
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G |
Errfi1 |
ERBB receptor feedback inhibitor 1 |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 |
MouseDO |
|
|
NCBI chr 5:161,323,981...161,337,289
Ensembl chr 5:161,323,998...161,337,282
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G |
Esd |
esterase D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr15:50,043,634...50,063,134
Ensembl chr15:50,043,632...50,063,144
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G |
Esr1 |
estrogen receptor 1 |
|
ISO |
DNA:SNP:intron: (rs2234693) (human) DNA:SNPs:introns: (rs2234693, rs9340799) (human) |
RGD |
PMID:20417295 PMID:19884274 |
RGD:10045662, RGD:10045830 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Esr2 |
estrogen receptor 2 |
|
ISO |
DNA:SNP:intron: (rs1256031) (human) |
RGD |
PMID:19884274 |
RGD:10045830 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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G |
Etfa |
electron transfer flavoprotein subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
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G |
Ezr |
ezrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505
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G |
Fcgr2a |
Fc gamma receptor 2A |
|
ISO |
|
RGD |
PMID:8254199 |
RGD:5147984 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fgf18 |
fibroblast growth factor 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30664745 |
|
NCBI chr10:17,706,011...17,737,702
Ensembl chr10:17,706,174...17,736,818
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
|
RGD |
PMID:22393163 |
RGD:10402075 |
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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|
G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
ISO |
mRNA:increased expression:trabecular bone: |
RGD |
PMID:15781004 |
RGD:10402109 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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G |
Fn1 |
fibronectin 1 |
|
ISO |
protein:increased expression:cartilage: |
RGD |
PMID:8646429 |
RGD:10402156 |
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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|
G |
Frzb |
frizzled-related protein |
susceptibility |
ISO |
ClinVar Annotator: match by term: Osteoarthritis CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15210948 PMID:25741868 |
|
NCBI chr 3:65,332,274...65,365,208
Ensembl chr 3:65,332,277...65,365,208
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G |
Ftl1 |
ferritin light chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:95,936,390...95,938,234
Ensembl chr 1:95,936,387...95,939,725 Ensembl chr10:95,936,387...95,939,725
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|
G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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G |
Gdf5 |
growth differentiation factor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
PMID:18830904 PMID:30664745 |
|
NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
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|
G |
Gh1 |
growth hormone 1 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:7152485 |
RGD:10003140 |
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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|
G |
Ghr |
growth hormone receptor |
|
ISO |
DNA:deletion:exon: |
RGD |
PMID:23740230 |
RGD:10003113 |
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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|
G |
Gls |
glutaminase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
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|
G |
Gstk1 |
glutathione S-transferase kappa 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 4:71,118,979...71,123,298
Ensembl chr 4:71,118,896...71,123,292
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|
G |
Hadha |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
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|
G |
Hbp1 |
HMG-box transcription factor 1 |
|
ISO |
|
RGD |
PMID:22586168 |
RGD:10402054 |
NCBI chr 6:48,529,633...48,555,775
Ensembl chr 6:48,529,372...48,555,787
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|
G |
Hfe |
homeostatic iron regulator |
|
ISO |
DNA:missense mutation: :p.C282Y (rs1800562) (human) |
RGD |
PMID:30651232 |
RGD:14746965 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
|
|
G |
Hibch |
3-hydroxyisobutyryl-CoA hydrolase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824
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|
G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
protein:increased expression:layer of synovial tissue, stromal cell |
RGD |
PMID:12823854 PMID:18789153 |
RGD:10395366, RGD:10402406 |
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hmgb1 |
high mobility group box 1 |
|
ISO |
|
RGD |
PMID:22330250 |
RGD:10401949 |
NCBI chr12:5,973,062...5,978,565
Ensembl chr12:5,901,586...5,978,565
|
|
G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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|
G |
Idh3a |
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084
|
|
G |
Ifna1 |
interferon, alpha 1 |
treatment |
IEP |
|
RGD |
PMID:30456844 |
RGD:36174218 |
NCBI chr 5:103,095,767...103,098,260
Ensembl chr 5:103,097,356...103,097,925
|
|
G |
Igf1 |
insulin-like growth factor 1 |
|
ISO |
protein:decreased expression:blood: |
RGD |
PMID:2290165 |
RGD:10045857 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
|
|
G |
Igf1r |
insulin-like growth factor 1 receptor |
severity |
ISO |
mRNA:increased expression:articular cartilage of joint: |
RGD |
PMID:8609369 |
RGD:10045889 |
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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|
G |
Igf2 |
insulin-like growth factor 2 |
|
ISO |
mRNA:increased expression:cartilage |
RGD |
PMID:22527881 |
RGD:10402552 |
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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|
G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
ISO |
|
RGD |
PMID:18775662 |
RGD:10402575 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
|
|
G |
Ihh |
Indian hedgehog signaling molecule |
|
ISO IEP |
protein:increased expression:cartilage |
RGD |
PMID:24786088 PMID:24786088 |
RGD:12910979, RGD:12910979 |
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
protein:increased expression:chonodrocyte: |
RGD |
PMID:9497936 |
RGD:10047053 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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|
G |
Il1b |
interleukin 1 beta |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21954917 PMID:22890185 |
RGD:7207218 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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|
G |
Il4r |
interleukin 4 receptor |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:16647277 |
RGD:10402785 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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G |
Il5 |
interleukin 5 |
|
ISO |
|
RGD |
PMID:22035391 |
RGD:5687147 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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|
G |
Immt |
inner membrane mitochondrial protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 4:103,880,482...103,919,116
Ensembl chr 4:103,880,459...103,919,109
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|
G |
Ins2 |
insulin 2 |
|
ISO |
protein:increased expression:blood: |
RGD |
PMID:2290165 |
RGD:10045857 |
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
|
|
G |
Isoc2b |
isochorismatase domain containing 2b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:68,972,960...68,993,760
Ensembl chr 1:68,972,960...68,993,757
|
|
G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
|
RGD |
PMID:18354251 |
RGD:6482239 |
NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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|
G |
Lep |
leptin |
severity |
ISO |
protein:increased expression:tibia, cartilage, chondrocyte (human) |
RGD |
PMID:14613274 |
RGD:10053634 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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|
G |
Lgals3 |
galectin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34894372 |
|
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
|
|
G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11790802 PMID:12379497 |
|
NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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|
G |
Matn3 |
matrilin 3 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Osteoarthritis susceptibility 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:12736871 PMID:14729835 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101
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G |
Mir146a |
microRNA 146a |
|
ISO |
mRNA:decreased expression:cartilage tissue (human) |
RGD |
PMID:31472145 |
RGD:152177908 |
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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|
G |
Mir34a |
microRNA 34a |
treatment |
ISO IMP |
mRNA:increased expression:knee, hip (human) |
RGD |
PMID:30048987 PMID:30048987 |
RGD:152177909, RGD:152177909 |
NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:9972954 |
RGD:7207129 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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|
G |
Mmp13 |
matrix metallopeptidase 13 |
treatment |
ISO IEP |
mRNA, protein:increased expression:cartilage |
RGD |
PMID:16128596 PMID:11134178 PMID:17530714 PMID:23982761 PMID:22890185 |
RGD:7207089, RGD:10043117, RGD:2300093, RGD:10043101, RGD:7207218 |
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
protein:increased expression:synovial fluid (human) |
RGD |
PMID:15194590 |
RGD:7207131 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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|
G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
protein:increased expression:synovial fluid (human) |
RGD |
PMID:16128596 PMID:15194590 |
RGD:7207089, RGD:7207131 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp8 |
matrix metallopeptidase 8 |
|
ISO |
protein:increased expression:synovial fluid, serum (human) |
RGD |
PMID:15194590 |
RGD:7207131 |
NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
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|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:synovial fluid, serum (human) |
RGD |
PMID:15194590 |
RGD:7207131 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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|
G |
Msn |
moesin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr X:60,996,043...61,064,011
Ensembl chr X:60,995,951...61,065,628
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|
G |
Mtor |
mechanistic target of rapamycin kinase |
treatment |
ISO |
|
RGD |
PMID:24651621 PMID:22084394 |
RGD:10003163, RGD:10003165 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Mvp |
major vault protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
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G |
Myh13 |
myosin heavy chain 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr10:52,012,779...52,068,960
Ensembl chr10:52,009,425...52,068,951
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|
G |
Napepld |
N-acyl phosphatidylethanolamine phospholipase D |
|
IEP |
protein:increased expression:spinal cord |
RGD |
PMID:20722027 |
RGD:10412653 |
NCBI chr 4:13,360,532...13,398,815
Ensembl chr 4:13,361,006...13,398,748
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|
G |
Ncor2 |
nuclear receptor co-repressor 2 |
susceptibility |
ISO |
|
RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319
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|
G |
Ndufs8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511
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|
G |
Ndufv1 |
NADH:ubiquinone oxidoreductase core subunit V1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466
|
|
G |
Nme2 |
NME/NM23 nucleoside diphosphate kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr10:78,898,097...78,903,600
Ensembl chr10:78,897,770...78,903,538
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|
G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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G |
P3h3 |
prolyl 3-hydroxylase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 4:157,646,238...157,662,035
Ensembl chr 4:157,646,243...157,695,509
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|
G |
Pdcd6ip |
programmed cell death 6 interacting protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 8:113,590,998...113,646,795
Ensembl chr 8:113,590,998...113,646,773
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G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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|
G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
IEP |
mRNA:increased expression:tibia (rat) |
RGD |
PMID:21864409 |
RGD:6771362 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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|
G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
mRNA:increased expression:cartilage tissue (human) |
RGD |
PMID:31472145 |
RGD:152177908 |
NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
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G |
Plcd1 |
phospholipase C, delta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
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|
G |
Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
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G |
Pls3 |
plastin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891
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G |
Pomc |
proopiomelanocortin |
|
ISO |
|
RGD |
PMID:21378032 |
RGD:5508809 |
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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|
G |
Pou3f3 |
POU class 3 homeobox 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17568789 |
|
NCBI chr 9:44,945,872...44,948,986
Ensembl chr 9:44,945,872...44,948,992
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17568789 |
|
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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|
G |
Ppp2r1a |
protein phosphatase 2 scaffold subunit A alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129
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|
G |
Psmb1 |
proteasome 20S subunit beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:56,442,432...56,463,544
Ensembl chr 1:56,420,618...56,463,560
|
|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
susceptibility |
ISO |
DNA:SNP (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:32004530 PMID:15334463 |
RGD:1625347 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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|
G |
Ran |
RAN, member RAS oncogene family |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr12:27,674,049...27,678,598
Ensembl chr12:27,674,050...27,678,276
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G |
Rcn3 |
reticulocalbin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:95,564,503...95,573,762
Ensembl chr 1:95,564,380...95,573,725
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|
G |
Runx2 |
RUNX family transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20008919 |
|
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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|
G |
S100a4 |
S100 calcium-binding protein A4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16948116 |
|
NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
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|
G |
Scrn1 |
secernin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 4:83,632,125...83,694,225
Ensembl chr 4:83,632,131...83,693,852
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|
G |
Sdcbp |
syndecan binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 5:19,473,499...19,517,188
Ensembl chr 5:19,489,961...19,527,572
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|
G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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G |
Sec23a |
Sec23 homolog A, COPII coat complex component |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 6:76,658,793...76,706,125
Ensembl chr 6:76,658,427...76,706,035
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G |
Serpina1 |
serpin family A member 1 |
|
IEP |
|
RGD |
PMID:20434574 |
RGD:2324964 |
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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|
G |
Sgcg |
sarcoglycan, gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17568789 |
|
NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
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|
G |
Slc2a1 |
solute carrier family 2 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18973239 |
|
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
|
|
G |
Smad3 |
SMAD family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21217753 PMID:22772368 |
|
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15292528 PMID:18784066 PMID:22108257 |
|
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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|
G |
Tent5a |
terminal nucleotidyltransferase 5A |
susceptibility |
ISO |
DNA:repeats: : |
RGD |
PMID:25231575 |
RGD:14390133 |
NCBI chr 8:86,222,294...86,229,045
Ensembl chr 8:86,225,357...86,229,045
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|
G |
Tfpi2 |
tissue factor pathway inhibitor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15292528 |
|
NCBI chr 4:31,981,786...31,986,707
Ensembl chr 4:31,982,178...31,986,600
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|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30664745 |
|
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
|
|
G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 |
MouseDO |
|
|
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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G |
Tgm2 |
transglutaminase 2 |
|
ISO | |