|
G |
Hgf |
hepatocyte growth factor |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:24387171 |
RGD:8548659 |
NCBI chr 4:19,628,902...19,700,467
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:24387171 |
RGD:8548659 |
NCBI chr 9:22,452,854...22,468,194
|
|
|
G |
Cchcr1 |
coiled-coil alpha-helical rod protein 1 |
|
ISS |
OMIM:104000 | OMIM:610753 |
MouseDO |
|
|
NCBI chr20:3,210,383...3,223,187
|
|
G |
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 9:69,812,859...69,819,959
|
|
G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22358057 |
|
NCBI chr14:15,989,066...15,991,263
|
|
G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22358057 |
|
NCBI chr14:16,007,166...16,012,077
|
|
G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22358057 |
|
NCBI chr X:66,844,318...66,846,969
|
|
G |
Dnmt1 |
DNA methyltransferase 1 |
|
ISO |
mRNA:increased expression:mononuclear cell: |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 8:19,440,611...19,486,659
|
|
G |
Ehmt2 |
euchromatic histone lysine methyltransferase 2 |
|
ISO |
mRNA:increased expression:mononuclear cell: |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr20:3,924,263...3,941,238
|
|
G |
Hdac1 |
histone deacetylase 1 |
|
ISO |
mRNA:increased expression:mononuclear cell: |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 5:147,138,328...147,165,387
|
|
G |
Hdac2 |
histone deacetylase 2 |
|
ISO |
mRNA:decreased expression:mononuclear cell: |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr20:42,101,815...42,126,486
|
|
G |
Hdac7 |
histone deacetylase 7 |
|
ISO |
mRNA:decreased expression:mononuclear cell: |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 7:128,923,918...128,961,926
|
|
G |
Ikzf4 |
IKAROS family zinc finger 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20596022 |
|
NCBI chr 7:1,063,283...1,102,940
|
|
G |
Il18 |
interleukin 18 |
susceptibility |
ISO |
DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) |
RGD |
PMID:24446726 |
RGD:8655875 |
NCBI chr 8:59,802,072...59,829,275
|
|
G |
Il1rn |
interleukin 1 receptor antagonist |
severity |
ISO |
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) |
RGD |
PMID:8077705 |
RGD:6909137 |
NCBI chr 3:27,509,836...27,525,738
|
|
G |
Il2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:3261574 PMID:16297194 |
RGD:8663449, RGD:8663450 |
NCBI chr 2:121,932,968...121,937,672
|
|
G |
Il2ra |
interleukin 2 receptor subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20596022 |
|
NCBI chr17:66,849,974...66,898,665
|
|
G |
Kdm1a |
lysine demethylase 1A |
|
ISO |
mRNA:decreased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 5:148,782,976...148,838,319
|
|
G |
Kdm4a |
lysine demethylase 4A |
|
ISO |
mRNA:decreased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 5:131,672,754...131,719,534
|
|
G |
Kdm4b |
lysine demethylase 4B |
|
ISO |
mRNA:decreased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 9:1,158,737...1,237,233
|
|
G |
Kdm4c |
lysine demethylase 4C |
|
ISO |
mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 5:88,100,710...88,306,821
|
|
G |
Kdm5a |
lysine demethylase 5A |
|
ISO |
mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:21936853 |
RGD:9587460 |
NCBI chr 4:153,565,909...153,643,912
|
|
G |
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
|
|
G |
Notch4 |
notch receptor 4 |
|
ISO |
|
RGD |
PMID:12589427 |
RGD:6480681 |
NCBI chr20:4,160,362...4,184,466
|
|
G |
Prdx5 |
peroxiredoxin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20596022 |
|
NCBI chr 1:204,099,826...204,103,589
|
|
G |
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
|
|
G |
Raet1l |
retinoic acid early transcript 1L |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20596022 |
|
NCBI chr 1:1,979,433...1,984,410
|
|
G |
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
|
|
G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphism: : HLA-DQB1*0604; |
RGD |
PMID:16231148 |
RGD:8547568 |
NCBI chr20:4,598,475...4,604,118
|
|
G |
Stx17 |
syntaxin 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20596022 |
|
NCBI chr 5:62,446,138...62,506,108
|
|
|
G |
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
|
|
|
G |
Ace |
angiotensin I converting enzyme |
susceptibility |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:22876137 |
RGD:7829800 |
NCBI chr10:91,410,129...91,430,246
|
|
G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21122270 |
RGD:5686891 |
NCBI chr11:91,226,524...91,240,244
|
|
G |
Ano6 |
anoctamin 6 |
severity |
ISO |
DNA:SNP: :rs17095830(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22138694 PMID:23308121 |
RGD:9684849 |
NCBI chr 7:126,933,919...127,113,588
|
|
G |
Antxr2 |
ANTXR cell adhesion molecule 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062062 PMID:21743469 |
|
NCBI chr14:11,541,718...11,682,110
|
|
G |
Aspn |
asporin |
susceptibility |
ISO |
DNA:repeats:exon: |
RGD |
PMID:20144272 |
RGD:9684964 |
NCBI chr17:15,079,910...15,104,369
|
|
G |
Card9 |
caspase recruitment domain family, member 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
|
NCBI chr 3:29,569,907...29,578,402
|
|
G |
Crp |
C-reactive protein |
disease_progression |
ISO |
protein:increased expression:serum: |
RGD |
PMID:22422197 PMID:6605119 |
RGD:6482308, RGD:9491788 |
NCBI chr13:87,694,062...87,695,978
|
|
G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
DNA:polymorphism: :4887C>A (human) |
RGD |
PMID:12880680 |
RGD:1581252 |
NCBI chr 8:66,991,940...66,998,014
|
|
G |
Erap1 |
endoplasmic reticulum aminopeptidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 |
|
NCBI chr 2:5,666,337...5,705,256
|
|
G |
Fcgr3a |
Fc gamma receptor 3A |
severity |
ISO |
protein:decreased expression:polymorphonuclear leucocyte |
RGD |
PMID:8453794 |
RGD:5508388 |
NCBI chr13:85,782,636...85,792,656
|
|
G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:9851264 |
RGD:10402573 |
NCBI chr14:86,270,208...86,277,944
|
|
G |
Il12b |
interleukin 12B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
|
NCBI chr10:29,390,300...29,405,194
|
|
G |
Il17a |
interleukin 17A |
treatment |
ISO |
|
RGD |
PMID:24035250 |
RGD:9068448 |
NCBI chr 9:30,640,844...30,644,331
|
|
G |
Il1r2 |
interleukin 1 receptor type 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062062 |
|
NCBI chr 9:42,384,280...42,424,726
|
|
G |
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
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:26339141 |
RGD:12792209 |
NCBI chr 4:5,889,999...5,894,575
|
|
G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
susceptibility |
ISO |
DNA:SNP:enhancer: (rs3027898) (human) |
RGD |
PMID:20500689 |
RGD:7495783 |
NCBI chr X:156,919,927...156,929,825
|
|
G |
Jak2 |
Janus kinase 2 |
susceptibility |
ISO |
DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) |
RGD |
PMID:20627814 |
RGD:6483025 |
NCBI chr 1:236,408,905...236,468,769
|
|
G |
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
|
|
G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:SNP:cds:677C>T (human) |
RGD |
PMID:25060515 |
RGD:42722610 |
NCBI chr 5:163,748,346...163,768,141
|
|
G |
Pgf |
placental growth factor |
|
ISO |
|
RGD |
PMID:21873332 |
RGD:6483576 |
NCBI chr 6:110,547,165...110,557,747
|
|
G |
Psmb9 |
proteasome 20S subunit beta 9 |
|
ISO |
DNA: snp: rs17587 |
RGD |
PMID:22034108 |
RGD:6483349 |
NCBI chr20:4,668,952...4,674,421
|
|
G |
Ptger4 |
prostaglandin E receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21743469 PMID:21743469 |
RGD:6483530 |
NCBI chr 2:56,061,699...56,074,594
|
|
G |
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
|
|
G |
RT1-Bb |
RT1 class II, locus Bb |
severity |
ISO |
DNA:polymorphism:cds:HLA-DQB1*0603 (human) |
RGD |
PMID:19565552 |
RGD:5147611 |
NCBI chr20:4,598,475...4,604,118
|
|
G |
RT1-CE13 |
RT1 class I, locus CE13 |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) |
RGD |
PMID:8733445 |
RGD:7364914 |
NCBI chr20:3,314,491...3,322,815
|
|
G |
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
|
|
G |
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
|
|
G |
Runx3 |
RUNX family transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
|
NCBI chr 5:152,644,270...152,702,835
|
|
G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
|
ISO |
DNA:SNPs: : |
RGD |
PMID:19480848 |
RGD:6482250 |
NCBI chr20:4,658,171...4,668,543
|
|
G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
|
ISO |
DNA:SNPs: : |
RGD |
PMID:19480848 |
RGD:6482250 |
NCBI chr20:4,636,347...4,650,387
|
|
G |
Tbkbp1 |
TBK1 binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21743469 |
|
NCBI chr10:82,120,558...82,135,749
|
|
G |
Thbd |
thrombomodulin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21556780 |
RGD:5684983 |
NCBI chr 3:156,316,526...156,320,178
|
|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
mRNA:increased expression:blood cell: |
RGD |
PMID:20952467 |
RGD:7794744 |
NCBI chr 5:85,161,247...85,174,882
|
|
G |
Tlr5 |
toll-like receptor 5 |
|
ISO |
mRNA:increased expression:blood cell: |
RGD |
PMID:20952467 |
RGD:7794744 |
NCBI chr13:97,166,430...97,190,642
|
|
G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
|
ISO |
|
RGD |
PMID:21317434 |
RGD:5131280 |
NCBI chr 5:157,070,642...157,104,216
|
|
G |
Vip |
vasoactive intestinal peptide |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:20340024 |
RGD:5685387 |
NCBI chr 1:44,470,232...44,478,561
|
|
|
G |
Ankrd37 |
ankyrin repeat domain 37 |
|
ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type |
ClinVar |
PMID:25741868 |
|
NCBI chr16:53,001,487...53,004,545
|
|
G |
Cfap96 |
cilia and flagella associated protein 96 |
|
ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
|
NCBI chr16:46,291,075...46,315,616
|
|
G |
Ufsp2 |
UFM1-specific peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 PMID:28892125 PMID:33473208 More...
|
|
NCBI chr16:46,272,016...46,291,080
|
|
|
G |
Ccl26 |
C-C motif chemokine ligand 26 |
|
ISO |
protein:increased expression:blister, serum (human) |
RGD |
PMID:21881593 |
RGD:11087555 |
NCBI chr12:26,745,972...26,750,924
|
|
G |
Cfb |
complement factor B |
|
ISO |
|
RGD |
PMID:17024247 |
RGD:7421522 |
NCBI chr20:3,970,643...3,976,510
|
|
G |
F2 |
coagulation factor II, thrombin |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:21488867 |
RGD:5147756 |
NCBI chr 3:98,051,958...98,065,246
|
|
G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:1377725 |
RGD:8547591 |
NCBI chr 8:27,829,688...27,841,618
|
|
G |
Il2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:1973607 |
RGD:8663461 |
NCBI chr 2:121,932,968...121,937,672
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:9687525 |
RGD:8547843 |
NCBI chr 3:174,103,474...174,111,434
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
mRNA:increased expression: : |
RGD |
PMID:7738351 |
RGD:7421578 |
NCBI chr 9:22,452,854...22,468,194
|
|
|
G |
C1qa |
complement C1q A chain |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency |
ClinVar |
PMID:7594474 PMID:8840296 PMID:9225968 PMID:9590289 PMID:21654842 PMID:22472776 PMID:25741868 PMID:26563161 PMID:28492532 PMID:29739689 PMID:30008451 More...
|
|
NCBI chr 5:154,417,086...154,419,933
|
|
G |
C1qb |
complement C1q B chain |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency |
ClinVar |
PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:149,118,843...149,124,394
|
|
G |
C1qc |
complement C1q C chain |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency |
ClinVar |
PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 PMID:24157463 PMID:25741868 PMID:28082982 PMID:28492532 PMID:30008451 PMID:31357913 More...
|
|
NCBI chr 5:154,410,845...154,414,208
|
|
|
G |
C1qa |
complement C1q A chain |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency 1 | ClinVar Annotator: match by term: C1QA-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:154,417,086...154,419,933
|
|
|
G |
C1qb |
complement C1q B chain |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency 2 | ClinVar Annotator: match by term: C1QB-related condition |
OMIM ClinVar |
PMID:2894352 PMID:24160257 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:149,118,843...149,124,394
|
|
|
G |
C1qc |
complement C1q C chain |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency 3 | ClinVar Annotator: match by term: C1QC-related condition |
OMIM ClinVar |
PMID:7029321 PMID:8630118 PMID:24157463 PMID:28492532 |
|
NCBI chr 5:154,410,845...154,414,208
|
|
|
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 8:118,586,909...118,600,975
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G |
Trex1 |
three prime repair exonuclease 1 |
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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 8:118,585,082...118,586,382
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G |
Atrip |
ATR interacting protein |
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ISO |
ClinVar Annotator: match by term: Chilblain lupus 1 |
ClinVar |
PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20392289 PMID:20799324 PMID:21270825 PMID:21937424 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:26938784 PMID:27391121 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31585108 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35307828 PMID:35456422 PMID:36586737 More...
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NCBI chr 8:118,586,909...118,600,975
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G |
Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27566796 |
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NCBI chr 3:166,179,742...166,214,448
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G |
Sting1 |
stimulator of interferon response cGAMP interactor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27566796 |
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NCBI chr18:27,606,196...27,612,544
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G |
Trex1 |
three prime repair exonuclease 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chilblain lupus 1 |
CTD OMIM ClinVar |
PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20392289 PMID:20799324 PMID:21270825 PMID:21937424 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:26938784 PMID:27391121 PMID:27566796 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31585108 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35307828 PMID:35456422 PMID:36586737 More...
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NCBI chr 8:118,585,082...118,586,382
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G |
Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Chilblain lupus 2 | ClinVar Annotator: match by term: SAMHD1-related condition |
OMIM ClinVar |
PMID:19525956 PMID:20653736 PMID:21204240 PMID:21402907 PMID:22461318 PMID:22973040 PMID:24033266 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:28229507 PMID:28492532 PMID:30275001 PMID:33857133 PMID:36311265 More...
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NCBI chr 3:166,179,742...166,214,448
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G |
Tldc2 |
TBC/LysM-associated domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Chilblain lupus 2 | ClinVar Annotator: match by term: SAMHD1-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:166,162,315...166,178,881
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G |
Clu |
clusterin |
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ISO |
mRNA:decreased expression:conjunctiva |
RGD |
PMID:12036968 |
RGD:8699507 |
NCBI chr15:40,161,068...40,200,315
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:11448121 |
RGD:8549794 |
NCBI chr 3:27,509,836...27,525,738
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G |
Ptger3 |
prostaglandin E receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21966456 |
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NCBI chr 2:246,606,131...246,750,970
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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 chr20:4,598,475...4,604,118
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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
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G |
Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:Conjunctiva: |
RGD |
PMID:7750940 |
RGD:7394786 |
NCBI chr20:3,626,685...3,629,303
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G |
Chat |
choline O-acetyltransferase |
susceptibility |
ISO ISS |
DNA:frameshift mutation, missense mutations (human) ClinVar Annotator: match by term: CHAT-related condition | ClinVar Annotator: match by term: Familial infantile myasthenia OMIM:254210 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12609506 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:28492532 PMID:28497657 PMID:28991257 PMID:29054425 PMID:29189923 PMID:32368696 PMID:33820833 PMID:34431804 PMID:34740919 PMID:34930662 PMID:36308527 PMID:38304750 PMID:11172068 More...
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RGD:1600831 |
NCBI chr16:7,657,362...7,717,093
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G |
Slc18a3 |
solute carrier family 18 member A3 |
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ISO |
ClinVar Annotator: match by term: CHAT-related condition | ClinVar Annotator: match by term: Familial infantile myasthenia |
ClinVar |
PMID:21948486 PMID:25741868 PMID:28492532 |
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NCBI chr16:7,713,630...7,716,491
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Familial infantile myasthenia |
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: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
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G |
Cenpc |
centromere protein C |
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ISO |
associated with Anticentromere antibody positivity |
RGD |
PMID:25220385 |
RGD:27372886 |
NCBI chr14:22,342,910...22,401,522
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G |
Fbn1 |
fibrillin 1 |
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ISO |
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RGD |
PMID:10395706 |
RGD:12910471 |
NCBI chr 3:112,554,257...112,750,835
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
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ISO |
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RGD |
PMID:21844117 |
RGD:6892918 |
NCBI chr 8:123,586,100...123,634,178
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G |
Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr 3:174,209,113...174,224,592
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G |
Cd40lg |
CD40 ligand |
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ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr X:140,164,341...140,176,057
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G |
Csf1 |
colony stimulating factor 1 |
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ISO |
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RGD |
PMID:18981160 |
RGD:7257572 |
NCBI chr 2:198,065,400...198,084,774
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G |
Il17a |
interleukin 17A |
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ISO |
protein:increased expression:epidermis (human) |
RGD |
PMID:20493423 |
RGD:8698667 |
NCBI chr 9:30,640,844...30,644,331
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G |
Trex1 |
three prime repair exonuclease 1 |
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ISS |
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MouseDO |
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NCBI chr 8:118,585,082...118,586,382
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G |
Eln |
elastin |
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ISO |
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RGD |
PMID:8256113 |
RGD:9585750 |
NCBI chr12:27,604,983...27,648,413
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G |
Lta |
lymphotoxin alpha |
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ISO |
DNA:polymorphism |
RGD |
PMID:7914110 |
RGD:8548777 |
NCBI chr20:3,622,291...3,625,852
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G |
Tnf |
tumor necrosis factor |
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ISO |
DNA:polymorphism:promoter |
RGD |
PMID:7914110 |
RGD:8548777 |
NCBI chr20:3,626,685...3,629,303
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
mRNA:increased expression: : |
RGD |
PMID:7738351 |
RGD:7421578 |
NCBI chr 9:22,452,854...22,468,194
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G |
Angptl2 |
angiopoietin-like 2 |
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ISS |
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MouseDO |
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NCBI chr 3:16,517,185...16,547,024
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G |
C2 |
complement C2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3501473 |
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NCBI chr20:3,951,474...3,970,376
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G |
C9 |
complement C9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11359403 |
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NCBI chr 2:57,300,510...57,348,759
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
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ISO |
protein:increased expression:limb muscle: |
RGD |
PMID:15772970 |
RGD:8661727 |
NCBI chr 8:132,611,883...132,619,106
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G |
Cd36 |
CD36 molecule |
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ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:17572512 |
RGD:6893508 |
NCBI chr 4:18,209,088...18,302,142
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G |
Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr 3:174,209,113...174,224,592
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G |
Cd40lg |
CD40 ligand |
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ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr X:140,164,341...140,176,057
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
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ISO |
protein:expression:serum |
RGD |
PMID:22394569 |
RGD:9491763 |
NCBI chr19:10,233,326...10,244,856
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G |
Fas |
Fas cell surface death receptor |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:9182923 |
RGD:8662437 |
NCBI chr 1:241,212,155...241,245,774
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G |
Hgf |
hepatocyte growth factor |
disease_progression |
ISO |
protein:increased expression:serum: |
RGD |
PMID:8952317 |
RGD:8548628 |
NCBI chr 4:19,628,902...19,700,467
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G |
Ifng |
interferon gamma |
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ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:19953283 |
RGD:7794747 |
NCBI chr 7:55,789,180...55,793,216
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G |
Il18 |
interleukin 18 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:20601655 |
RGD:4889547 |
NCBI chr 8:59,802,072...59,829,275
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G |
Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19035492 |
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NCBI chr 3:136,979,804...136,990,236
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19035492 |
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NCBI chr 3:137,030,200...137,036,581
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G |
Il4 |
interleukin 4 |
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ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:19953283 |
RGD:7794747 |
NCBI chr10:38,272,003...38,277,549
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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 1:237,429,873...237,465,567
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G |
Mmp1 |
matrix metallopeptidase 1 |
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ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:11157561 |
RGD:8547876 |
NCBI chr 8:12,943,453...12,963,966
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:11157561 |
RGD:8547876 |
NCBI chr 3:174,103,474...174,111,434
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G |
Pms1 |
PMS1 homolog 1, mismatch repair system component |
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ISO |
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RGD |
PMID:15856462 |
RGD:2324870 |
NCBI chr 9:55,721,393...55,832,225
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G |
Robo1 |
roundabout guidance receptor 1 |
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ISO |
mRNA,protein:increased expression:muscle |
RGD |
PMID:32213157 |
RGD:243048425 |
NCBI chr11:24,067,869...25,108,694
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G |
Slit2 |
slit guidance ligand 2 |
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ISO |
mRNA,protein:increased expression:muscle |
RGD |
PMID:32213157 |
RGD:243048425 |
NCBI chr14:66,829,661...67,168,517
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G |
Stat4 |
signal transducer and activator of transcription 4 |
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ISO |
DNA:SNP: :rs7574865 (human) |
RGD |
PMID:22402141 |
RGD:8661693 |
NCBI chr 9:49,472,660...49,588,540
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G |
Thbd |
thrombomodulin |
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ISO |
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RGD |
PMID:17899683 |
RGD:5685006 |
NCBI chr 3:156,316,526...156,320,178
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G |
Tlr2 |
toll-like receptor 2 |
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ISO |
mRNA,protein:increased expression:muscle |
RGD |
PMID:19953283 |
RGD:7794747 |
NCBI chr 2:171,499,189...171,504,831
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G |
Tlr4 |
toll-like receptor 4 |
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ISO |
mRNA,protein:increased expression:muscle |
RGD |
PMID:19953283 |
RGD:7794747 |
NCBI chr 5:85,161,247...85,174,882
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G |
Tlr9 |
toll-like receptor 9 |
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ISO |
mRNA,protein:increased expression:muscle |
RGD |
PMID:19953283 |
RGD:7794747 |
NCBI chr 8:115,743,407...115,747,523
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19035492 |
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NCBI chr20:3,626,685...3,629,303
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
severity |
ISO |
protein:decreased expression:serum |
RGD |
PMID:21615510 |
RGD:8694418 |
NCBI chr11:91,226,524...91,240,244
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G |
Agt |
angiotensinogen |
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ISO |
protein:increased expression:serum |
RGD |
PMID:14730619 |
RGD:8548886 |
NCBI chr19:69,426,540...69,447,017
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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
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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 4:46,606,538...46,639,616
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
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ISO |
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RGD |
PMID:18432520 |
RGD:5135258 |
NCBI chr14:17,310,790...17,312,250
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G |
Fcgr2a |
Fc gamma receptor 2A |
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ISO |
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RGD |
PMID:8254199 |
RGD:5147984 |
NCBI chr13:85,813,516...85,830,269
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G |
Il10 |
interleukin 10 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:9034992 |
RGD:5684371 |
NCBI chr13:45,024,921...45,029,586
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G |
Il13 |
interleukin 13 |
|
ISO |
DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) |
RGD |
PMID:16832637 |
RGD:5684369 |
NCBI chr10:38,290,926...38,293,483
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G |
Il6 |
interleukin 6 |
treatment |
ISO |
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RGD |
PMID:20338043 |
RGD:12792275 |
NCBI chr 4:5,889,999...5,894,575
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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:156,919,927...156,929,825
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G |
Kdr |
kinase insert domain receptor |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:19886888 |
RGD:8551850 |
NCBI chr14:32,572,031...32,615,204
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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
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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
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G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
susceptibility |
ISO |
|
RGD |
PMID:16112028 |
RGD:1578361 |
NCBI chr20:4,658,171...4,668,543
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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
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27228633 |
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NCBI chr 5:66,449,348...66,506,371
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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 2:171,499,189...171,504,831
|
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G |
Wrn |
WRN RecQ like helicase |
|
ISO |
|
RGD |
PMID:16906373 |
RGD:10042980 |
NCBI chr16:65,466,552...65,602,951
|
|
|
G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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 PMID:39033378 More...
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NCBI chr12:47,599,161...47,638,143
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G |
Stat4 |
signal transducer and activator of transcription 4 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Disabling pansclerotic morphea of childhood |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:37256972 |
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NCBI chr 9:49,472,660...49,588,540
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G |
Anxa1 |
annexin A1 |
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ISO |
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RGD |
PMID:20701627 |
RGD:7421565 |
NCBI chr 1:227,287,713...227,306,739
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G |
Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr 3:174,209,113...174,224,592
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G |
Cd40lg |
CD40 ligand |
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ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr X:140,164,341...140,176,057
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G |
Il17a |
interleukin 17A |
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ISO |
protein:increased expression:epidermis (human) |
RGD |
PMID:20493423 |
RGD:8698667 |
NCBI chr 9:30,640,844...30,644,331
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G |
Nat2 |
N-acetyltransferase 2 |
treatment |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:9170150 |
RGD:8552671 |
NCBI chr16:26,974,874...27,005,191
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33072095 |
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NCBI chr 4:148,030,237...148,037,599
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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
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G |
Traf3ip2 |
Traf3 interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Discoid lupus erythematosus |
ClinVar |
PMID:25741868 |
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NCBI chr20:43,011,405...43,054,654
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G |
C3 |
complement C3 |
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ISO |
associated with Leprosy |
RGD |
PMID:2783924 |
RGD:7421527 |
NCBI chr 9:2,174,412...2,201,339
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G |
Cfb |
complement factor B |
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ISO |
associated with Leprosy |
RGD |
PMID:2783924 |
RGD:7421527 |
NCBI chr20:3,970,643...3,976,510
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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 2:198,338,005...198,346,007
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G |
Lta |
lymphotoxin alpha |
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ISO |
associated with Sarcoidosis;DNA:polymorphism:intron |
RGD |
PMID:19225544 |
RGD:8548773 |
NCBI chr20:3,622,291...3,625,852
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G |
RT1-CE13 |
RT1 class I, locus CE13 |
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ISO |
associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) |
RGD |
PMID:12198697 |
RGD:7364926 |
NCBI chr20:3,314,491...3,322,815
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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 chr20:3,626,685...3,629,303
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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 7:130,864,764...130,916,757
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G |
Arpc5 |
actin related protein 2/3 complex, subunit 5 |
treatment |
IEP |
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RGD |
PMID:17997938 |
RGD:11049469 |
NCBI chr13:67,454,379...67,463,288
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G |
C3 |
complement C3 |
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ISO IEP |
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RGD |
PMID:17962462 PMID:147324 |
RGD:7401263, RGD:11040804 |
NCBI chr 9:2,174,412...2,201,339
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G |
C6 |
complement C6 |
susceptibility |
IAGP |
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RGD |
PMID:17034580 |
RGD:1600670 |
NCBI chr 2:53,846,028...53,921,279
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G |
Cd40lg |
CD40 ligand |
treatment |
IMP |
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RGD |
PMID:11359850 |
RGD:8547800 |
NCBI chr X:140,164,341...140,176,057
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G |
Cfb |
complement factor B |
treatment |
IMP |
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RGD |
PMID:25355917 |
RGD:11041161 |
NCBI chr20:3,970,643...3,976,510
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G |
Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
treatment |
ISO |
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RGD |
PMID:10606626 |
RGD:704386 |
NCBI chr 3:78,862,286...78,877,353
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G |
Ctsl |
cathepsin L |
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IEP |
mRNA:increased expression:quadriceps (rat) |
RGD |
PMID:16365386 |
RGD:2315588 |
NCBI chr17:770,104...776,266
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
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IMP IEP |
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RGD |
PMID:19232748 PMID:15843529 |
RGD:2311364, RGD:1598501 |
NCBI chr14:15,989,066...15,991,263
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
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IEP |
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RGD |
PMID:15843529 |
RGD:1598501 |
NCBI chr14:16,007,166...16,012,077
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
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IEP IMP |
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RGD |
PMID:15843529 PMID:19232748 |
RGD:1598501, RGD:2311364 |
NCBI chr X:66,844,318...66,846,969
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G |
Il15 |
interleukin 15 |
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IEP |
protein:increased expression:skeletal muscle |
RGD |
PMID:11585642 |
RGD:1626617 |
NCBI chr19:42,536,160...42,611,349
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G |
Il23r |
interleukin 23 receptor |
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IEP |
mRNA:increased expression:lymph node |
RGD |
PMID:21193288 |
RGD:5108250 |
NCBI chr 4:96,580,568...96,672,540
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
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IDA |
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RGD |
PMID:18250419 |
RGD:2325986 |
NCBI chr17:66,849,974...66,898,665
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G |
Il4r |
interleukin 4 receptor |
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IEP |
protein:increased expression:skeletal muscle |
RGD |
PMID:19395316 |
RGD:4889981 |
NCBI chr 1:180,115,061...180,139,981
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G |
Musk |
muscle associated receptor tyrosine kinase |
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IDA |
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RGD |
PMID:17081697 |
RGD:2317084 |
NCBI chr 5:77,853,560...77,967,653
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G |
Myog |
myogenin |
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IEP |
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RGD |
PMID:1312030 |
RGD:9686077 |
NCBI chr13:48,297,476...48,300,065
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G |
Rapsn |
receptor-associated protein of the synapse |
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IEP |
protein:decreased expression:neuromuscular junction |
RGD |
PMID:19344765 |
RGD:8549750 |
NCBI chr 3:77,015,073...77,024,378
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G |
Cat |
catalase |
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ISO |
protein:decreased activity:mononuclear cell: |
RGD |
PMID:22532869 |
RGD:9479066 |
NCBI chr 3:110,297,340...110,329,526
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:19924498 |
RGD:14995946 |
NCBI chr10:67,503,077...67,504,875
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G |
Comt |
catechol-O-methyltransferase |
severity |
ISO |
DNA:polymorphism:cds:p.V158M(human) |
RGD |
PMID:24762091 |
RGD:13450944 |
NCBI chr11:96,072,371...96,091,956
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G |
Il1rn |
interleukin 1 receptor antagonist |
severity |
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:10341365 |
RGD:8549787 |
NCBI chr 3:27,509,836...27,525,738
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G |
Atp2c1 |
ATPase secretory pathway Ca2+ transporting 1 |
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ISO |
ClinVar Annotator: match by term: ATP2C1-related condition | 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
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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 1:43,511,685...43,904,454
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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 6:100,589,553...100,645,240
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G |
Il4 |
interleukin 4 |
no_association |
ISO |
DNA:SNPs:promoter, 5' utr, intron:multiple |
RGD |
PMID:20219689 |
RGD:10402786 |
NCBI chr10:38,272,003...38,277,549
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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
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G |
Dstyk |
dual serine/threonine and tyrosine protein kinase |
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ISO |
ClinVar Annotator: match by term: DSTYK-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 PMID:28566479 PMID:33624863 More...
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NCBI chr13:46,409,412...46,457,426
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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
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G |
Acp3 |
acid phosphatase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 8:104,905,570...104,956,146
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G |
Acrbp |
acrosin binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:157,851,149...157,864,211
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G |
Adcy7 |
adenylate cyclase 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr19:34,913,154...34,972,366
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G |
Alox12 |
arachidonate 12-lipoxygenase, 12S type |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr10:54,958,263...54,970,542
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G |
Ankrd9 |
ankyrin repeat domain 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 6:130,001,914...130,008,792
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G |
Aopep |
aminopeptidase O |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr17:1,817,001...2,133,008
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G |
Aqp9 |
aquaporin 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 8:80,678,027...80,718,273
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G |
Areg |
amphiregulin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr14:17,256,384...17,265,641
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G |
Asap1 |
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 7:97,675,354...97,982,523
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G |
Avl9 |
AVL9 cell migration associated |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:85,961,493...86,008,347
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G |
B4galt5 |
beta-1,4-galactosyltransferase 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 3:156,018,056...156,033,983
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G |
Bend2 |
BEN domain containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr X:36,997,518...37,093,363
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G |
Bltp3b |
bridge-like lipid transfer protein family member 3B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 7:24,181,635...24,261,720
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G |
Btg1 |
BTG anti-proliferation factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 7:33,228,149...33,230,406
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G |
Btg3 |
BTG anti-proliferation factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr11:17,030,156...17,046,069
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G |
C8b |
complement C8 beta chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7980680 |
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NCBI chr 5:119,535,009...119,572,565
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G |
C9h2orf88 |
similar to human chromosome 2 open reading frame 88 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 9:48,539,140...48,584,882
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G |
Cald1 |
caldesmon 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:64,232,906...64,414,085
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G |
Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 3:29,144,318...29,206,382
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G |
Ccdc122 |
coiled-coil domain containing 122 |
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ISO |
ClinVar Annotator: match by term: JUVENILE ARTHRITIS |
ClinVar |
PMID:25741868 |
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NCBI 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 8:132,629,097...132,660,980
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G |
Cd14 |
CD14 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr18:28,609,558...28,611,409
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G |
Cd83 |
CD83 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr17:21,093,281...21,113,223
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G |
Cd8b |
CD8 subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:104,870,911...104,886,838
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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
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G |
Clu |
clusterin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr15:40,161,068...40,200,315
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G |
Cmtm2b |
CKLF-like MARVEL transmembrane domain containing 2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr19:640,838...651,872
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G |
Crem |
cAMP responsive element modulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr17:58,932,011...59,001,160
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G |
Crp |
C-reactive protein |
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ISO |
protein:increased expression:serum |
RGD |
PMID:22885951 |
RGD:6906884 |
NCBI chr13:87,694,062...87,695,978
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 9:69,812,859...69,819,959
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G |
Cttn |
cortactin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 1:199,599,710...199,635,254
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr14:17,477,542...17,479,321
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G |
Cxcl3 |
C-X-C motif chemokine ligand 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr14:17,571,900...17,573,624
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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 9:75,729,493...75,735,868
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 PMID:26387944 |
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NCBI chr13:42,630,383...42,634,288
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G |
Dapk1 |
death associated protein kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr17:3,935,826...4,096,858
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G |
Ddit3 |
DNA-damage inducible transcript 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 7:65,001,695...65,006,517
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G |
Dusp1 |
dual specificity phosphatase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr10:17,184,853...17,187,646
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G |
Dusp2 |
dual specificity phosphatase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 3:135,009,636...135,011,821
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G |
Dusp4 |
dual specificity phosphatase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr16:64,079,893...64,101,396
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G |
Dysf |
dysferlin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:116,490,877...116,690,709
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G |
Egf |
epidermal growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 2:220,893,660...220,976,331
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G |
Egr1 |
early growth response 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr18:26,737,078...26,740,877
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G |
Elf2 |
E74 like ETS transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 2:135,292,291...135,385,942
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G |
Etnk1 |
ethanolamine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
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NCBI chr 4:177,857,001...177,901,278
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G |
Etv6 |
ETS variant transcription factor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:166,849,031...167,085,211
|
|
G |
Fam20a |
FAM20A, golgi associated secretory pathway pseudokinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr10:95,136,799...95,197,176
|
|
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
|
|
G |
Fcgr1a |
Fc gamma receptor 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 2:186,539,941...186,548,941
|
|
G |
Fchsd2 |
FCH and double SH3 domains 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:155,444,471...155,685,350
|
|
G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 6:110,852,188...110,855,054
|
|
G |
Fosb |
FosB proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:88,082,324...88,089,506
|
|
G |
Fosl2 |
FOS like 2, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 6:30,017,952...30,039,269
|
|
G |
Foxp1 |
forkhead box P1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:133,117,346...133,808,647
|
|
G |
Gadd45a |
growth arrest and DNA-damage-inducible, alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:97,484,497...97,486,799
|
|
G |
Gmpr |
guanosine monophosphate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr17:19,151,820...19,189,626
|
|
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
|
|
G |
Gp1bb |
glycoprotein Ib platelet subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr11:82,378,216...82,379,393
|
|
G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:18328165 |
RGD:5490992 |
NCBI chr20:12,856,068...12,873,020
|
|
G |
H2bc8 |
H2B clustered histone 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr17:42,708,658...42,709,408
|
|
G |
Hbegf |
heparin-binding EGF-like growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr18:28,380,337...28,390,220
|
|
G |
Herpud2 |
HERPUD family member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 8:23,573,374...23,618,380
|
|
G |
Hfe |
homeostatic iron regulator |
|
ISO |
DNA:missense mutation:cds:p.C282Y (human) |
RGD |
PMID:16047841 |
RGD:8694357 |
NCBI chr17:41,841,302...41,849,359
|
|
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
|
|
G |
Hspa6l-ps1 |
heat shock protein family A (Hsp70) member 6 like, pseudogene 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr13:85,805,911...85,807,052
|
|
G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
ISO |
protein:increased expression:serum,synovial fluid: |
RGD |
PMID:8255671 |
RGD:12910480 |
NCBI chr 9:64,073,610...64,084,332
|
|
G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:130,959,787...131,248,664
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
DNA:SNP:promoter:-889C>T (human) |
RGD |
PMID:8162643 |
RGD:7794716 |
NCBI chr 3:136,979,804...136,990,236
|
|
G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 3:27,509,836...27,525,738
|
|
G |
Il2 |
interleukin 2 |
|
ISO |
protein:increased expression:mononuclear cell |
RGD |
PMID:21859687 |
RGD:5147870 |
NCBI chr 2:121,932,968...121,937,672
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:9489833 |
RGD:7829742 |
NCBI chr 4:5,889,999...5,894,575
|
|
G |
Itga2b |
integrin subunit alpha 2b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr10:87,408,532...87,426,055
|
|
G |
Itgb5 |
integrin subunit beta 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr11:66,828,428...66,944,231
|
|
G |
Jmjd1c |
jumonji domain containing 1C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr20:21,330,990...21,508,580
|
|
G |
Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 5:115,009,900...115,012,993
|
|
G |
Kat6b |
lysine acetyltransferase 6B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr15:2,638,885...2,811,977
|
|
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
|
|
G |
Klf4 |
KLF transcription factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 5:75,074,107...75,079,182
|
|
G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:179,916,255...179,949,613
|
|
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...
|
|
NCBI chr15:52,390,267...52,407,630
|
|
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
|
|
G |
Lpp |
LIM domain containing preferred translocation partner in lipoma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr11:89,292,060...89,933,973
|
|
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
|
|
G |
Maff |
MAF bZIP transcription factor F |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 7:112,792,787...112,804,139
|
|
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
|
|
G |
Map2 |
microtubule-associated protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 9:75,173,038...75,431,606
|
|
G |
Mapk1 |
mitogen activated protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr11:97,462,025...97,529,193
|
|
G |
Mbl2 |
mannose binding lectin 2 |
|
ISO |
|
RGD |
PMID:18334024 |
RGD:12910845 |
NCBI chr 1:237,429,873...237,465,567
|
|
G |
Mex3c |
mex-3 RNA binding family member C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr18:69,442,850...69,463,843
|
|
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
|
|
G |
Msn |
moesin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr X:60,996,043...61,064,011
|
|
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
|
|
G |
Myzap |
myocardial zonula adherens protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 8:72,155,817...72,243,036
|
|
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
|
|
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
|
|
G |
Nr4a3 |
nuclear receptor subfamily 4, group A, member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 5:67,157,141...67,198,287
|
|
G |
Nrg1 |
neuregulin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr16:65,954,084...67,007,484
|
|
G |
Olr1 |
oxidized low density lipoprotein receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:164,612,460...164,635,082
|
|
G |
Osm |
oncostatin M |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr14:79,103,638...79,108,500
|
|
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
|
|
G |
Pcyt1b |
phosphate cytidylyltransferase 1B, choline |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr X:58,378,090...58,471,623
|
|
G |
Per1 |
period circadian regulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr10:54,299,002...54,313,804
|
|
G |
Pgm5 |
phosphoglucomutase 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:222,325,638...222,513,434
|
|
G |
Plaur |
plasminogen activator, urokinase receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:89,181,363...89,196,308
|
|
G |
Plk2 |
polo-like kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 2:43,702,536...43,708,305
|
|
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
|
|
G |
Pros1 |
protein S |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr11:13,676,310...13,757,858
|
|
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
|
|
G |
R3hdm2 |
R3H domain containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 7:63,212,519...63,340,574
|
|
G |
Rasgef1b |
RasGEF domain family, member 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr14:9,859,512...10,380,044
|
|
G |
Rbm47 |
RNA binding motif protein 47 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr14:42,407,226...42,545,304
|
|
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
|
|
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
|
|
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
|
|
G |
Rnf103 |
ring finger protein 103 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:103,526,456...103,542,529
|
|
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
|
|
G |
RT1-Bb |
RT1 class II, locus Bb |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:10457895 |
RGD:5147863 |
NCBI chr20:4,598,475...4,604,118
|
|
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
|
|
G |
Selp |
selectin P |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:21124648 |
RGD:6219006 |
NCBI chr13:76,476,229...76,511,846
|
|
G |
Sh2d2a |
SH2 domain containing 2A |
|
ISO |
|
RGD |
PMID:15129233 |
RGD:2298870 |
NCBI chr 2:173,312,253...173,318,810
|
|
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
|
|
G |
Sik1 |
salt-inducible kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr20:9,947,104...9,958,729
|
|
G |
Sipa1l1 |
signal-induced proliferation-associated 1 like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 6:107,570,569...107,849,613
|
|
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
|
|
G |
Slc22a16 |
solute carrier family 22 member 16 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr20:45,527,275...45,647,675
|
|
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
|
|
G |
Slc2a3 |
solute carrier family 2 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:157,632,887...157,698,034
|
|
G |
Smad3 |
SMAD family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 8:64,126,829...64,236,960
|
|
G |
Stab1 |
stabilin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr16:6,330,435...6,360,934
|
|
G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr10:86,311,528...86,363,513
|
|
G |
Stim1 |
stromal interaction molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:156,656,246...156,818,777
|
|
G |
Tcf7l2 |
transcription factor 7 like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 1:264,791,335...264,984,225
|
|
G |
Tfdp1 |
transcription factor Dp-1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr16:82,864,220...82,903,166
|
|
G |
Tfpi |
tissue factor pathway inhibitor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 3:89,939,862...89,989,253
|
|
G |
Thbd |
thrombomodulin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15209962 |
RGD:5685023 |
NCBI chr 3:156,316,526...156,320,178
|
|
G |
Thbs1 |
thrombospondin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 3:125,510,250...125,525,402
|
|
G |
Tnfaip6 |
TNF alpha induced protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 3:56,911,398...56,930,797
|
|
G |
Tnfaip8 |
TNF alpha induced protein 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr18:45,370,334...45,486,036
|
|
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
|
|
G |
Tnik |
TRAF2 and NCK interacting kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 2:113,112,937...113,511,341
|
|
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...12,642,324
|
|
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
|
|
G |
Tubb2a |
tubulin, beta 2A class IIa |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr17:30,796,842...30,800,713
|
|
G |
Ube2e1 |
ubiquitin-conjugating enzyme E2E 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr15:9,870,528...9,924,194
|
|
G |
Ube3c |
ubiquitin protein ligase E3C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr 4:5,648,932...5,749,922
|
|
G |
Wasf3 |
WASP family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr12:8,563,805...8,660,799
|
|
G |
Wwox |
WW domain-containing oxidoreductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19565504 |
|
NCBI chr19:59,338,402...60,269,323
|
|
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
|
|
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
|
|
|
G |
Anxa2 |
annexin A2 |
disease_progression |
ISO |
protein:increased expression:chondrocyte: |
RGD |
PMID:10903884 |
RGD:10053727 |
NCBI chr 8:78,986,252...79,022,638
|
|
G |
Anxa5 |
annexin A5 |
disease_progression |
ISO |
protein:increased expression:chondrocyte: |
RGD |
PMID:10903884 |
RGD:10053727 |
NCBI chr 2:121,242,133...121,272,935
|
|
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
|
|
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
|
|
G |
B2m |
beta-2 microglobulin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:18795399 |
RGD:6482710 |
NCBI chr 3:129,549,236...129,555,354
|
|
G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:20131282 |
RGD:6907382 |
NCBI chr 1:105,076,472...105,081,906
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:20131282 |
RGD:6907382 |
NCBI chr13:23,204,464...23,366,900
|
|
G |
Bglap |
bone gamma-carboxyglutamate protein |
|
ISO IDA |
|
RGD |
PMID:22294259 PMID:21387139 |
RGD:6483563, RGD:6483595 |
NCBI chr 2:176,136,341...176,137,318
|
|
G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
mRNA,protein:increased expression:dorsal root ganglion: |
RGD |
PMID:23185004 |
RGD:8661785 |
NCBI chr 8:132,611,883...132,619,106
|
|
G |
Cd36 |
CD36 molecule |
disease_progression |
ISO IEP |
|
RGD |
PMID:21765106 PMID:19342682 |
RGD:6893494, RGD:6893565 |
NCBI chr 4:18,209,088...18,302,142
|
|
G |
Ctnnb1 |
catenin beta 1 |
|
IEP |
protein:increased expression:cartilage: |
RGD |
PMID:22702043 |
RGD:10395278 |
NCBI chr 8:129,517,576...129,544,661
|
|
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 8:63,449,148...63,476,534
|
|
G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
ameliorates |
IEP |
|
RGD |
PMID:31258642 |
RGD:150519887 |
NCBI chr13:84,726,412...84,851,032
|
|
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
|
|
G |
Dkk1 |
dickkopf WNT signaling pathway inhibitor 1 |
|
IMP |
|
RGD |
PMID:20131282 |
RGD:6907382 |
NCBI chr 1:237,794,969...237,798,650
|
|
G |
Eef1a1 |
eukaryotic translation elongation factor 1 alpha 1 |
|
IEP |
|
RGD |
PMID:25435813 |
RGD:13506963 |
NCBI chr 8:79,341,554...79,344,784
|
|
G |
Efemp1 |
EGF containing fibulin extracellular matrix protein 1 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:22275171 |
RGD:10401792 |
NCBI chr14:106,811,769...106,890,961
|
|
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 6:13,543,252...13,626,147
|
|
G |
Epo |
erythropoietin |
treatment |
ISO |
|
RGD |
PMID:25422652 |
RGD:10400892 |
NCBI chr12:19,204,258...19,207,948
|
|
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 1:43,511,685...43,904,454
|
|
G |
Esr2 |
estrogen receptor 2 |
|
ISO |
DNA:repeat:intron:c.1092+3607(CA)13-27 (human) |
RGD |
PMID:16098017 |
RGD:10043199 |
NCBI chr 6:100,589,553...100,645,240
|
|
G |
F2 |
coagulation factor II, thrombin |
|
ISO |
|
RGD |
PMID:21041276 |
RGD:5147774 |
NCBI chr 3:98,051,958...98,065,246
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
treatment |
ISO |
|
RGD |
PMID:27159076 |
RGD:11568056 |
NCBI chr14:81,211,800...81,227,215
|
|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30374069 |
|
NCBI chr 3:144,454,316...144,458,508
|
|
G |
Gsr |
glutathione-disulfide reductase |
|
ISO |
protein:increased expression:synovial fluid |
RGD |
PMID:16289733 |
RGD:10401830 |
NCBI chr16:65,185,574...65,228,742
|
|
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 chr12:11,009,236...11,015,941
|
|
G |
Hmgb2 |
high mobility group box 2 |
severity |
ISO |
mRNA:decreased expression:articular cartilage |
RGD |
PMID:19139395 PMID:19139395 |
RGD:10402184, RGD:10402184 |
NCBI chr16:37,721,374...37,723,950
|
|
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 6:135,523,604...135,529,687
|
|
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 7:24,169,608...24,249,446
|
|
G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
|
RGD |
PMID:8948288 |
RGD:10045874 |
NCBI chr 1:130,959,787...131,248,664
|
|
G |
Il1a |
interleukin 1 alpha |
|
IEP ISO |
protein:increased expression:cartilage cell: |
RGD |
PMID:24534736 PMID:9497937 PMID:9034998 |
RGD:10045944, RGD:10046057, RGD:10045946 |
NCBI chr 3:136,979,804...136,990,236
|
|
G |
Il2 |
interleukin 2 |
severity |
ISO |
protein:increased expression:synovial fluid: |
RGD |
PMID:22035391 |
RGD:5687147 |
NCBI chr 2:121,932,968...121,937,672
|
|
G |
Il4 |
interleukin 4 |
susceptibility |
IDA ISO |
DNA:repeat:intron: (rs8179190) (human) |
RGD |
PMID:18182309 PMID:24406619 |
RGD:2317291, RGD:10402787 |
NCBI chr10:38,272,003...38,277,549
|
|
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
|
|
G |
Lep |
leptin |
|
ISO |
protein:decreased expression:serum: |
RGD |
PMID:23575542 |
RGD:10411887 |
NCBI chr 4:58,626,529...58,640,663
|
|
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 5:121,409,735...121,593,201
|
|
G |
Lpar1 |
lysophosphatidic acid receptor 1 |
susceptibility |
ISO |
DNA:snp:promoter:g.-2820G>A (rs10980705) (human) |
RGD |
PMID:18325907 |
RGD:10054291 |
NCBI chr 5:78,024,139...78,147,071
|
|
G |
Ltbp1 |
latent transforming growth factor beta binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30374069 |
|
NCBI chr 6:25,781,625...26,177,346
|
|
G |
Mir219a1 |
microRNA 219a-1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:35962723 |
|
NCBI chr20:4,829,687...4,829,796
|
|
G |
Mir223 |
microRNA 223 |
|
IEP |
RNA:increased expression:synovial membrane |
RGD |
PMID:30106113 |
RGD:25824950 |
NCBI chr X:61,141,887...61,141,996
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
treatment |
IEP |
|
RGD |
PMID:21167838 |
RGD:8549737 |
NCBI chr 8:12,943,453...12,963,966
|
|
G |
Mmp13 |
matrix metallopeptidase 13 |
ameliorates |
IEP |
|
RGD |
PMID:31258642 |
RGD:150519887 |
NCBI chr 8:4,497,960...4,508,239
|
|
G |
Mmp3 |
matrix metallopeptidase 3 |
treatment |
IMP |
|
RGD |
PMID:22114772 |
RGD:8694098 |
NCBI chr 8:12,925,267...12,938,828
|
|
G |
Penk |
proenkephalin |
treatment |
IEP |
|
RGD |
PMID:21928671 |
RGD:10003115 |
NCBI chr 5:21,981,381...21,987,074
|
|
G |
Ptges |
prostaglandin E synthase |
|
IEP |
|
RGD |
PMID:17530714 |
RGD:2300093 |
NCBI chr 3:14,177,892...14,189,236
|
|
G |
Sbno1 |
strawberry notch homolog 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30374069 |
|
NCBI chr12:37,835,306...37,895,861
|
|
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
|
|
G |
Tgfa |
transforming growth factor alpha |
|
IEP |
protein:increased expression:cartilage |
RGD |
PMID:17968906 |
RGD:2317486 |
NCBI chr 4:120,175,549...120,258,342
|
|
G |
Vdr |
vitamin D receptor |
|
ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 7:130,864,764...130,916,757
|
|
G |
Wwp2 |
WW domain containing E3 ubiquitin protein ligase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30374069 |
|
NCBI chr19:35,346,826...35,471,251
|
|
|
G |
Lama5 |
laminin subunit alpha 5 |
|
ISO |
ClinVar Annotator: match by term: LAMA5-related multisystemic syndrome |
ClinVar |
PMID:24130771 PMID:25741868 PMID:29377152 PMID:29534211 |
|
NCBI chr 3:167,270,296...167,318,370
|
|
|
G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
|
ISS |
|
MouseDO |
|
|
NCBI chr19:40,425,560...40,724,810
|
|
G |
Cacna1b |
calcium voltage-gated channel subunit alpha1 B |
|
ISO |
|
RGD |
PMID:16289869 |
RGD:1626312 |
NCBI chr 3:27,779,133...27,944,292
|
|
G |
Chrm1 |
cholinergic receptor, muscarinic 1 |
|
ISO |
|
RGD |
PMID:17764462 |
RGD:5133415 |
NCBI chr 1:205,567,226...205,583,001
|
|
|
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 4:46,606,538...46,639,616
|
|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
mRNA,protein:increased expression:skin: |
RGD |
PMID:12925209 |
RGD:8661733 |
NCBI chr10:67,503,077...67,504,875
|
|
G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
mRNA,protein:increased expression:skin: |
RGD |
PMID:12925209 |
RGD:8661733 |
NCBI chr 8:132,611,883...132,619,106
|
|
G |
Fas |
Fas cell surface death receptor |
|
ISO |
|
RGD |
PMID:17102953 |
RGD:12903974 |
NCBI chr 1:241,212,155...241,245,774
|
|
G |
Faslg |
Fas ligand |
|
ISO |
|
RGD |
PMID:17102953 |
RGD:12903974 |
NCBI chr13:76,680,885...76,706,042
|
|
G |
Il2 |
interleukin 2 |
susceptibility |
ISO |
DNA:polymorphism::-384T>G(human) |
RGD |
PMID:17444587 |
RGD:4142872 |
NCBI chr 2:121,932,968...121,937,672
|
|
G |
Jak2 |
Janus kinase 2 |
|
ISO |
|
RGD |
PMID:20808962 |
RGD:4892610 |
NCBI chr 1:236,408,905...236,468,769
|
|
G |
Kdr |
kinase insert domain receptor |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:19886888 |
RGD:8551850 |
NCBI chr14:32,572,031...32,615,204
|
|
G |
Pgf |
placental growth factor |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:22461185 |
RGD:6483571 |
NCBI chr 6:110,547,165...110,557,747
|
|
G |
Serpine1 |
serpin family E member 1 |
|
ISO |
mRNA,protein:increased expression:skin: |
RGD |
PMID:15730388 |
RGD:13208597 |
NCBI chr12:25,237,977...25,248,356
|
|
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
|
|
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
|
|
|
G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
mRNA:increased expression:dermis |
RGD |
PMID:15727634 |
RGD:5688298 |
NCBI chr10:80,380,458...80,397,461
|
|
|
G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
ISO |
mRNA,protein:increased expression:skin: |
RGD |
PMID:15803328 |
RGD:8662838 |
NCBI chr20:7,150,820...7,161,373
|
|
G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15863969 |
|
NCBI chr10:84,157,485...84,159,860
|
|
G |
Hgf |
hepatocyte growth factor |
treatment |
ISO |
|
RGD |
PMID:14712301 |
RGD:8548627 |
NCBI chr 4:19,628,902...19,700,467
|
|
G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:7916356 |
RGD:8158116 |
NCBI chr 8:27,829,688...27,841,618
|
|
G |
Il13 |
interleukin 13 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:12920362 |
RGD:8549537 |
NCBI chr10:38,290,926...38,293,483
|
|
G |
Lmna |
lamin A/C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15726408 |
|
NCBI chr 2:176,237,564...176,265,301
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
|
RGD |
PMID:9804345 |
RGD:1582543 |
NCBI chr 8:12,943,453...12,963,966
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
|
RGD |
PMID:7510487 |
RGD:7394847 |
NCBI chr 1:90,324,312...90,340,627
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9843018 |
|
NCBI chr20:3,626,685...3,629,303
|
|
|
G |
Cd1d1 |
CD1d1 molecule |
ameliorates |
ISO |
|
RGD |
PMID:14561706 |
RGD:127345108 |
NCBI chr 2:172,423,582...172,427,089
|
|
|
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 chr20:4,152,758...4,155,956
|
|
G |
Apoc3 |
apolipoprotein C3 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:17957542 |
RGD:7207211 |
NCBI chr 8:46,531,478...46,533,658
|
|
G |
C3 |
complement C3 |
|
ISO |
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:31182691 PMID:21888025 |
RGD:7175544 |
NCBI chr 9:2,174,412...2,201,339
|
|
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 chr10:67,503,077...67,504,875
|
|
G |
Ccl3 |
C-C motif chemokine ligand 3 |
|
ISO |
|
RGD |
PMID:18187931 |
RGD:7241814 |
NCBI chr10:68,948,889...68,950,439
|
|
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
|
|
G |
Cd40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:23799000 PMID:18566369 PMID:19265127 |
RGD:7248418, RGD:7248429, RGD:7248425 |
NCBI chr 3:174,209,113...174,224,592
|
|
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:140,164,341...140,176,057
|
|
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
|
|
G |
Cfh |
complement factor H |
|
ISO |
|
RGD |
PMID:22171659 |
RGD:5684551 |
NCBI chr13:51,512,376...51,613,829
|
|
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
|
|
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 chr10:80,380,458...80,397,461
|
|
G |
Crp |
C-reactive protein |
no_association |
ISO |
DNA:SNP |
RGD |
PMID:18852001 PMID:17596285 PMID:20039408 PMID:15692982 |
RGD:6907400, RGD:5508454, RGD:6909146, RGD:6909145 |
NCBI chr13:87,694,062...87,695,978
|
|
G |
Csf1 |
colony stimulating factor 1 |
|
ISO |
|
RGD |
PMID:21885670 PMID:17659436 |
RGD:7257567, RGD:7257589 |
NCBI chr 2:198,065,400...198,084,774
|
|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
|
RGD |
PMID:15146424 |
RGD:7204726 |
NCBI chr 9:69,812,859...69,819,959
|
|
G |
Egf |
epidermal growth factor |
|
ISO |
|
RGD |
PMID:21354048 |
RGD:5688301 |
NCBI chr 2:220,893,660...220,976,331
|
|
G |
Fas |
Fas cell surface death receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33632240 PMID:38555047 |
|
NCBI chr 1:241,212,155...241,245,774
|
|
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:25741868 PMID:15004265 More...
|
RGD:5147975 |
NCBI chr13:85,813,516...85,830,269
|
|
G |
Fcgr2b |
Fc gamma receptor 2B |
|
ISO |
|
RGD |
PMID:15681388 |
RGD:7240529 |
NCBI chr13:85,725,897...85,740,517
|
|
G |
Fcgr3a |
Fc gamma receptor 3A |
susceptibility |
ISO |
DNA:SNP:cds:p.V158F (human) |
RGD |
PMID:17596285 |
RGD:5508454 |
NCBI chr13:85,782,636...85,792,656
|
|
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 7:55,789,180...55,793,216
|
|
G |
Il17a |
interleukin 17A |
treatment |
ISO |
|
RGD |
PMID:25129462 |
RGD:9244623 |
NCBI chr 9:30,640,844...30,644,331
|
|
G |
Il18 |
interleukin 18 |
|
ISO |
|
RGD |
PMID:20980973 |
RGD:6893449 |
NCBI chr 8:59,802,072...59,829,275
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:21641991 PMID:20410215 |
RGD:7175315, RGD:7175344 |
NCBI chr 3:137,030,200...137,036,581
|
|
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 3:27,509,836...27,525,738
|
|
G |
Itgam |
integrin subunit alpha M |
|
ISO |
|
RGD |
PMID:21719445 |
RGD:5147916 |
NCBI chr 1:192,089,496...192,139,947
|
|
G |
Jak1 |
Janus kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31182691 |
|
NCBI chr 5:120,895,606...121,004,207
|
|
G |
Klkb1 |
kallikrein B1 |
susceptibility |
ISO |
DNA:SNPs:promoter: |
RGD |
PMID:19307730 |
RGD:7327150 |
NCBI chr16:46,958,634...46,982,054
|
|
G |
Mbl2 |
mannose binding lectin 2 |
disease_progression |
ISO |
DNA:polymorphism:exon: |
RGD |
PMID:24850777 |
RGD:12910847 |
NCBI chr 1:237,429,873...237,465,567
|
|
G |
Mir125a |
microRNA 125a |
|
IEP |
RNA:decreased expression:kidney |
RGD |
PMID:30972208 |
RGD:26884458 |
NCBI chr 1:58,677,626...58,677,710
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22479529 |
|
NCBI chr19:30,327,643...30,355,856
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22479529 |
|
NCBI chr 3:174,103,474...174,111,434
|
|
G |
Mpo |
myeloperoxidase |
susceptibility |
ISO |
DNA:polymorphism: :−463G > A (human) |
RGD |
PMID:17896805 |
RGD:7174701 |
NCBI chr10:73,092,124...73,102,057
|
|
G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
|
RGD |
PMID:17283580 |
RGD:7245502 |
NCBI chr 5:164,167,985...164,277,438
|
|
G |
Muc20 |
mucin 20, cell surface associated |
|
ISO |
|
RGD |
PMID:14565953 |
RGD:7364790 |
NCBI chr11:67,987,816...68,001,496
|
|
G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
|
ISO |
|
RGD |
PMID:21509671 PMID:17880936 |
RGD:7174713, RGD:7174734 |
NCBI chr18:31,522,783...31,644,508
|
|
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
|
|
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 9:101,866,124...101,879,278
|
|
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
|
|
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
|
|
G |
Sell |
selectin L |
|
ISO |
|
RGD |
PMID:20512127 |
RGD:7175284 |
NCBI chr13:78,950,100...78,969,604
|
|
G |
Serping1 |
serpin family G member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4014294 |
|
NCBI chr 3:90,249,410...90,259,299
|
|
G |
Snrpe |
small nuclear ribonucleoprotein polypeptide E |
treatment |
IDA |
mouse model |
RGD |
PMID:15494537 |
RGD:10760401 |
NCBI chr13:45,050,986...45,057,231
|
|
G |
Stat1 |
signal transducer and activator of transcription 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31182691 |
|
NCBI chr 9:56,911,522...56,951,926
|
|
G |
Stat4 |
signal transducer and activator of transcription 4 |
|
ISO |
|
RGD |
PMID:20980973 |
RGD:6893449 |
NCBI chr 9:49,472,660...49,588,540
|
|
G |
Stat6 |
signal transducer and activator of transcription 6 |
disease_progression |
ISO |
|
RGD |
PMID:12874250 |
RGD:7244140 |
NCBI chr 7:65,365,505...65,382,825
|
|
G |
Tlr7 |
toll-like receptor 7 |
|
ISO |
|
RGD |
PMID:19944565 |
RGD:7246905 |
NCBI chr X:30,644,324...30,670,796
|
|
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...
|
RGD:7245987, RGD:7246911, RGD:7246897, RGD:7246896, RGD:7245989, RGD:7246884 |
NCBI chr 8:115,743,407...115,747,523
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:glomerular mesangial cell |
RGD |
PMID:7750940 |
RGD:7394786 |
NCBI chr20:3,626,685...3,629,303
|
|
G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
|
ISO |
associated with Lupus Erythematosus, Systemic;protein:increased expression:urine |
RGD |
PMID:21691937 |
RGD:7205483 |
NCBI chr 7:87,456,318...87,484,324
|
|
G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
severity |
ISO |
|
RGD |
PMID:19201910 PMID:10906156 |
RGD:7245569, RGD:7245572 |
NCBI chr 4:159,837,119...159,849,817
|
|
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
|
|
G |
Vcam1 |
vascular cell adhesion molecule 1 |
severity |
ISO |
protein:increased expression:urine |
RGD |
PMID:22788914 |
RGD:7241032 |
NCBI chr 2:206,723,050...206,742,783
|
|
|
G |
Fcgr3a |
Fc gamma receptor 3A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26773105 |
|
NCBI chr13:85,782,636...85,792,656
|
|
G |
Ina |
internexin neuronal intermediate filament protein, alpha |
severity |
ISO |
|
RGD |
PMID:20559547 |
RGD:40886275 |
NCBI chr 1:255,838,129...255,849,680
|
|
G |
Itgam |
integrin subunit alpha M |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26773105 |
|
NCBI chr 1:192,089,496...192,139,947
|
|
G |
Selp |
selectin P |
|
ISO |
|
RGD |
PMID:20179168 |
RGD:6478687 |
NCBI chr13:76,476,229...76,511,846
|
|
|
G |
Fas |
Fas cell surface death receptor |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:9182923 |
RGD:8662437 |
NCBI chr 1:241,212,155...241,245,774
|
|
G |
Fbn1 |
fibrillin 1 |
|
ISO |
|
RGD |
PMID:10395706 |
RGD:12910471 |
NCBI chr 3:112,554,257...112,750,835
|
|
G |
Ifng |
interferon gamma |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:19684145 |
RGD:8142347 |
NCBI chr 7:55,789,180...55,793,216
|
|
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
|
|
G |
Snrpb |
small nuclear ribonucleoprotein polypeptides B and B1 |
|
ISO |
|
RGD |
PMID:2968364 |
RGD:10448928 |
NCBI chr 3:137,824,870...137,832,479
|
|
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
|
|
G |
Tlr3 |
toll-like receptor 3 |
|
ISO |
|
RGD |
PMID:16453294 |
RGD:5129221 |
NCBI chr16:53,554,916...53,572,321
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:19684145 |
RGD:8142347 |
NCBI chr20:3,626,685...3,629,303
|
|
|
G |
Ache |
acetylcholinesterase |
|
ISO |
|
RGD |
PMID:17986328 |
RGD:5509842 |
NCBI chr12:25,042,882...25,050,608
|
|
G |
Adrb2 |
adrenoceptor beta 2 |
|
ISO |
DNA:polymorphisms:cds:p.R16G,Q27E(human) |
RGD |
PMID:10606977 |
RGD:8548470 |
NCBI chr18:57,912,760...57,914,802
|
|
G |
Cfb |
complement factor B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6605118 |
|
NCBI chr20:3,970,643...3,976,510
|
|
G |
Chrm1 |
cholinergic receptor, muscarinic 1 |
|
ISO |
|
RGD |
PMID:17764462 |
RGD:5133415 |
NCBI chr 1:205,567,226...205,583,001
|
|
G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
|
RGD |
PMID:15843529 |
RGD:1598501 |
NCBI chr14:15,989,066...15,991,263
|
|
G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
ISO |
|
RGD |
PMID:15843529 |
RGD:1598501 |
NCBI chr X:66,844,318...66,846,969
|
|
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 |
|
NCBI chr12:21,919,955...21,960,160
|
|
G |
Esr2 |
estrogen receptor 2 |
|
ISO |
|
RGD |
PMID:15661863 |
RGD:5509039 |
NCBI chr 6:100,589,553...100,645,240
|
|
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 1:241,212,155...241,245,774
|
|
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
|
|
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 5:77,853,560...77,967,653
|
|
G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:4323972 |
|
NCBI chr 6:32,659,137...32,665,175
|
|
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
|
|
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
|
|
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 chr20:4,598,475...4,604,118
|
|
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
|
|
G |
RT1-Hb-ps1 |
RT1 class II, locus Hb, pseudogene 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17956852 |
|
NCBI chr20:4,775,598...4,779,590
|
|
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 |
|
NCBI chr12:9,327,347...9,338,206
|
|
|
G |
Psmb8 |
proteasome 20S subunit beta 8 |
|
ISO |
ClinVar Annotator: match by term: Nodular erythema digital changes |
ClinVar |
PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 PMID:25741868 PMID:26524591 PMID:28492532 More...
|
|
NCBI chr20:4,654,068...4,657,049
|
|
|
G |
Serpina1 |
serpin family A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3259592 PMID:6982619 |
|
NCBI chr 6:128,631,101...128,653,125
|
|
|
G |
Acaa2 |
acetyl-CoA acyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr18:68,345,136...68,373,246
|
|
G |
Acan |
aggrecan |
treatment |
ISO IEP |
|
RGD |
PMID:22833446 PMID:21853458 |
RGD:11570535, RGD:11570544 |
NCBI chr 1:142,390,951...142,453,779
|
|
G |
Aco1 |
aconitase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 5:55,259,841...55,315,872
|
|
G |
Actb |
actin, beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr12:16,776,664...16,779,634
|
|
G |
Adam12 |
ADAM metallopeptidase domain 12 |
susceptibility |
ISO |
|
RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 1:188,686,984...189,014,206
|
|
G |
Adam15 |
ADAM metallopeptidase domain 15 |
|
ISO |
|
RGD |
PMID:15818704 |
RGD:1559176 |
NCBI chr 2:174,754,629...174,765,136
|
|
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
|
|
G |
Adamts4 |
ADAM metallopeptidase with thrombospondin type 1 motif, 4 |
treatment |
ISO |
associated with Bone Diseases, Metabolic |
RGD |
PMID:22432033 |
RGD:10043110 |
NCBI chr13:86,203,011...86,212,500
|
|
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...
|
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
|
|
G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17568789 |
|
NCBI chr X:38,106,067...38,231,286
|
|
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 chr20:4,152,758...4,155,956
|
|
G |
Ak4 |
adenylate kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 5:121,154,565...121,214,403
|
|
G |
Akr1c1 |
aldo-keto reductase family 1, member C1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr17:70,720,397...70,747,285
|
|
G |
Akr1c2 |
aldo-keto reductase family 1, member C2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr17:70,669,684...70,717,935
|
|
G |
Aldh1a2 |
aldehyde dehydrogenase 1 family, member A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24728293 |
|
NCBI chr 8:71,877,850...71,957,107
|
|
G |
Aspn |
asporin |
no_association susceptibility |
ISO |
DNA:repeats:exon: CTD Direct Evidence: marker/mechanism |
OMIM CTD RGD |
PMID:16542493 |
RGD:9684966 |
NCBI chr17:15,079,910...15,104,369
|
|
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
|
|
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
|
|
G |
Atp7a |
ATPase copper transporting alpha |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 |
MouseDO |
|
|
NCBI chr X:75,159,635...75,267,094
|
|
G |
Bad |
BCL2-associated agonist of cell death |
|
ISO |
|
RGD |
PMID:19217321 |
RGD:10053643 |
NCBI chr 1:213,562,719...213,572,034
|
|
G |
Bag6 |
BAG cochaperone 6 |
susceptibility |
ISO |
DNA:SNP: :rs3117582(human) |
RGD |
PMID:25231575 |
RGD:14390133 |
NCBI chr20:3,675,938...3,690,414
|
|
G |
Bax |
BCL2 associated X, apoptosis regulator |
|
ISO |
protein:increased expression:chondrocyte |
RGD |
PMID:19217321 PMID:16864079 |
RGD:10053643, RGD:10054095 |
NCBI chr 1:105,076,472...105,081,906
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO |
protein:increased expression:chondrocyte |
RGD |
PMID:19217321 PMID:16864079 |
RGD:10053643, RGD:10054095 |
NCBI chr13:23,204,464...23,366,900
|
|
G |
Becn1 |
beclin 1 |
|
ISO |
protein:decreased expression:cartilage |
RGD |
PMID:20187128 PMID:20187128 |
RGD:6483317, RGD:6483317 |
NCBI chr10:86,731,649...86,747,002
|
|
G |
Bglap |
bone gamma-carboxyglutamate protein |
disease_progression |
ISO |
|
RGD |
PMID:20157712 |
RGD:6483599 |
NCBI chr 2:176,136,341...176,137,318
|
|
G |
Bmp2 |
bone morphogenetic protein 2 |
susceptibility |
ISO |
|
RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 3:141,264,648...141,275,416
|
|
G |
Bmp4 |
bone morphogenetic protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20008919 |
|
NCBI chr15:22,098,191...22,113,145
|
|
G |
Bmp6 |
bone morphogenetic protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20008919 |
|
NCBI chr17:26,523,704...26,785,558
|
|
G |
Bmp7 |
bone morphogenetic protein 7 |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 |
MouseDO |
|
|
NCBI chr 3:182,059,318...182,135,273
|
|
G |
Bmpr1a |
bone morphogenetic protein receptor type 1A |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 |
MouseDO |
|
|
NCBI chr16:9,740,751...9,786,861
|
|
G |
Calca |
calcitonin-related polypeptide alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16690336 |
|
NCBI chr 1:178,312,636...178,317,588
|
|
G |
Casp3 |
caspase 3 |
treatment |
IEP |
|
RGD |
PMID:29138829 |
RGD:13782343 |
NCBI chr16:52,395,539...52,413,794
|
|
G |
Casp9 |
caspase 9 |
treatment |
IEP |
|
RGD |
PMID:29138829 |
RGD:13782343 |
|
|
G |
Cav1 |
caveolin 1 |
|
IEP |
|
RGD |
PMID:16508959 |
RGD:10043354 |
NCBI chr 4:46,606,538...46,639,616
|
|
G |
Ccl22 |
C-C motif chemokine ligand 22 |
|
ISO |
protein:increased expression:plasma: |
RGD |
PMID:19942450 |
RGD:10054497 |
NCBI chr19:10,263,589...10,270,359
|
|
G |
Ccr4 |
C-C motif chemokine receptor 4 |
|
ISO |
protein:increased expression:synovial membrane: |
RGD |
PMID:19942450 |
RGD:10054497 |
NCBI chr 8:114,176,291...114,182,033
|
|
G |
Cd36 |
CD36 molecule |
susceptibility |
ISO |
|
RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 4:18,209,088...18,302,142
|
|
G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
treatment |
IEP |
|
RGD |
PMID:24009074 |
RGD:10043190 |
NCBI chr 5:109,100,763...109,114,448
|
|
G |
Cebpb |
CCAAT/enhancer binding protein beta |
susceptibility |
ISO |
|
RGD |
PMID:22095691 |
RGD:10401214 |
NCBI chr 3:176,817,005...176,818,436
|
|
G |
Chi3l1 |
chitinase 3 like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr13:45,641,802...45,649,787
|
|
G |
Cilp |
cartilage intermediate layer protein |
disease_progression |
ISO |
|
RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 8:65,777,281...65,792,251
|
|
G |
Clec3b |
C-type lectin domain family 3, member B |
disease_progression |
ISO |
|
RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 8:122,810,120...122,815,837
|
|
G |
Clic1 |
chloride intracellular channel 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr20:3,769,522...3,778,367
|
|
G |
Clic4 |
chloride intracellular channel 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 5:147,453,702...147,513,455
|
|
G |
Clu |
clusterin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17568789 PMID:18784066 |
|
NCBI chr15:40,161,068...40,200,315
|
|
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
|
|
G |
Col1a1 |
collagen type I alpha 1 chain |
no_association |
ISO |
DNA:SNP:intron:IVS1 |
RGD |
PMID:10743824 |
RGD:5688331 |
NCBI chr10:80,380,458...80,397,461
|
|
G |
Col1a2 |
collagen type I alpha 2 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 4:33,518,557...33,553,484
|
|
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 7:130,977,561...131,006,627
|
|
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
|
|
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
|
|
G |
Comp |
cartilage oligomeric matrix protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7670472 |
|
NCBI chr16:19,047,206...19,055,584
|
|
G |
Ctsd |
cathepsin D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:206,956,945...206,968,821
|
|
G |
Ctsk |
cathepsin K |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30664745 |
|
NCBI chr 2:185,747,548...185,758,512
|
|
G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15292528 |
|
NCBI chr14:17,465,210...17,467,255
|
|
G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15292528 |
|
NCBI chr14:17,310,790...17,312,250
|
|
G |
Dapp1 |
dual adaptor of phosphotyrosine and 3-phosphoinositides 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 2:229,099,319...229,148,868
|
|
G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
disease_progression |
ISO |
|
RGD |
PMID:24938620 |
RGD:150429973 |
NCBI chr13:84,726,412...84,851,032
|
|
G |
Ddx3x |
DEAD-box helicase 3, X-linked |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr X:9,479,532...9,493,169
|
|
G |
Dpep1 |
dipeptidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30664745 |
|
NCBI chr19:51,209,831...51,237,004
|
|
G |
Dpysl2 |
dihydropyrimidinase-like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr15:45,181,041...45,287,065
|
|
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
|
|
G |
Eef2 |
eukaryotic translation elongation factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 7:9,183,836...9,196,255
|
|
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
|
|
G |
Egr1 |
early growth response 1 |
|
ISO |
|
RGD |
PMID:10806043 |
RGD:1626498 |
NCBI chr18:26,737,078...26,740,877
|
|
G |
Eno1 |
enolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 5:160,719,951...160,731,337
|
|
G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 |
MouseDO |
|
|
NCBI chr 1:22,518,051...22,583,044
|
|
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 6:13,543,252...13,626,147
|
|
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
|
|
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
|
|
G |
Errfi1 |
ERBB receptor feedback inhibitor 1 |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 |
MouseDO |
|
|
NCBI chr 5:166,606,841...166,620,124
|
|
G |
Esd |
esterase D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr15:56,453,082...56,472,582
|
|
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 1:43,511,685...43,904,454
|
|
G |
Esr2 |
estrogen receptor 2 |
|
ISO |
DNA:SNP:intron: (rs1256031) (human) |
RGD |
PMID:19884274 |
RGD:10045830 |
NCBI chr 6:100,589,553...100,645,240
|
|
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
|
|
G |
Ezr |
ezrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:49,373,033...49,416,573
|
|
G |
Fcgr2a |
Fc gamma receptor 2A |
|
ISO |
|
RGD |
PMID:8254199 |
RGD:5147984 |
NCBI chr13:85,813,516...85,830,269
|
|
G |
Fgf18 |
fibroblast growth factor 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30664745 |
|
NCBI chr10:17,706,011...17,737,702
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
|
RGD |
PMID:22393163 |
RGD:10402075 |
NCBI chr16:73,194,631...73,249,855
|
|
G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
ISO |
mRNA:increased expression:trabecular bone: |
RGD |
PMID:15781004 |
RGD:10402109 |
NCBI chr12:12,333,050...12,504,750
|
|
G |
Fn1 |
fibronectin 1 |
|
ISO |
protein:increased expression:cartilage: |
RGD |
PMID:8646429 |
RGD:10402156 |
NCBI chr 9:80,645,507...80,714,200
|
|
G |
Frzb |
frizzled-related protein |
susceptibility |
ISO |
ClinVar Annotator: match by term: Osteoarthritis | ClinVar Annotator: match by term: Osteoarthritis susceptibility 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15210948 PMID:25741868 |
|
NCBI chr 3:65,332,274...65,365,208
|
|
G |
Ftl1 |
ferritin light chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:105,072,858...105,074,705
|
|
G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 4:157,962,312...157,967,158
|
|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO ISS |
ClinVar Annotator: match by term: Osteoarthritis susceptibility 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:17384641 PMID:18830904 PMID:25741868 PMID:28492532 PMID:30664745 |
|
NCBI chr 3:144,454,316...144,458,508
|
|
G |
Gh1 |
growth hormone 1 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:7152485 |
RGD:10003140 |
NCBI chr10:91,727,883...91,729,860
|
|
G |
Ghr |
growth hormone receptor |
|
ISO |
DNA:deletion:exon: |
RGD |
PMID:23740230 |
RGD:10003113 |
NCBI chr 2:52,541,452...52,804,960
|
|
G |
Gls |
glutaminase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 9:49,344,616...49,416,900
|
|
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
|
|
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
|
|
G |
Hbp1 |
HMG-box transcription factor 1 |
|
ISO |
|
RGD |
PMID:22586168 |
RGD:10402054 |
NCBI chr 6:54,257,118...54,283,373
|
|
G |
Hfe |
homeostatic iron regulator |
|
ISO |
DNA:missense mutation: :p.C282Y (rs1800562) (human) |
RGD |
PMID:30651232 |
RGD:14746965 |
NCBI chr17:41,841,302...41,849,359
|
|
G |
Hibch |
3-hydroxyisobutyryl-CoA hydrolase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 9:48,590,097...48,669,896
|
|
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 6:98,357,788...98,405,068
|
|
G |
Hmgb1 |
high mobility group box 1 |
|
ISO |
|
RGD |
PMID:22330250 |
RGD:10401949 |
NCBI chr12:11,009,236...11,015,941
|
|
G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:143,447,925...143,467,248
|
|
G |
Idh3a |
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 8:63,867,882...63,887,223
|
|
G |
Ifna1 |
interferon, alpha 1 |
treatment |
IEP |
|
RGD |
PMID:30456844 |
RGD:36174218 |
NCBI 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 7:24,169,608...24,249,446
|
|
G |
Igf1r |
insulin-like growth factor 1 receptor |
severity |
ISO |
mRNA:increased expression:articular cartilage of joint: |
RGD |
PMID:8609369 |
RGD:10045889 |
NCBI chr 1:130,959,787...131,248,664
|
|
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
|
|
G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
ISO |
|
RGD |
PMID:18775662 |
RGD:10402575 |
NCBI chr14:86,270,208...86,277,944
|
|
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
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
protein:increased expression:chonodrocyte: |
RGD |
PMID:9497936 |
RGD:10047053 |
NCBI chr 3:136,979,804...136,990,236
|
|
G |
Il1b |
interleukin 1 beta |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21954917 PMID:37943572 PMID:22890185 |
RGD:7207218 |
NCBI chr 3:137,030,200...137,036,581
|
|
G |
Il4r |
interleukin 4 receptor |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:16647277 |
RGD:10402785 |
NCBI chr 1:180,115,061...180,139,981
|
|
G |
Il5 |
interleukin 5 |
|
ISO |
|
RGD |
PMID:22035391 |
RGD:5687147 |
NCBI chr10:38,375,132...38,378,003
|
|
G |
Immt |
inner membrane mitochondrial protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 4:103,880,482...103,919,116
|
|
G |
Ins2 |
insulin 2 |
|
ISO |
protein:increased expression:blood: |
RGD |
PMID:2290165 |
RGD:10045857 |
NCBI chr 1:207,272,738...207,421,998
|
|
G |
Isoc2b |
isochorismatase domain containing 2b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:68,972,960...68,993,760
|
|
G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
|
RGD |
PMID:18354251 |
RGD:6482239 |
NCBI chr 3:124,406,783...124,442,220
|
|
G |
Lep |
leptin |
severity |
ISO |
protein:increased expression:tibia, cartilage, chondrocyte (human) |
RGD |
PMID:14613274 |
RGD:10053634 |
NCBI chr 4:58,626,529...58,640,663
|
|
G |
Lgals3 |
galectin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34894372 |
|
NCBI chr15:20,620,083...20,632,019
|
|
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
|
|
G |
Matn3 |
matrilin 3 |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Osteoarthritis susceptibility 2 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM MouseDO CTD |
PMID:12736871 PMID:14729835 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:31,748,517...31,768,564
|
|
G |
Mir146a |
microRNA 146a |
|
ISO |
mRNA:decreased expression:cartilage tissue (human) |
RGD |
PMID:31472145 |
RGD:152177908 |
NCBI chr10:28,349,996...28,350,090
|
|
G |
Mir34a |
microRNA 34a |
treatment |
ISO IMP |
mRNA:increased expression:knee, hip (human) |
RGD |
PMID:30048987 PMID:30048987 |
RGD:152177909, RGD:152177909 |
NCBI chr 5:165,815,952...165,816,053
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:9972954 |
RGD:7207129 |
NCBI chr 8:12,943,453...12,963,966
|
|
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
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
protein:increased expression:synovial fluid (human) |
RGD |
PMID:15194590 |
RGD:7207131 |
NCBI chr19:30,327,643...30,355,856
|
|
G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
protein:increased expression:synovial fluid (human) |
RGD |
PMID:16128596 PMID:15194590 |
RGD:7207089, RGD:7207131 |
NCBI chr 8:12,925,267...12,938,828
|
|
G |
Mmp8 |
matrix metallopeptidase 8 |
|
ISO |
protein:increased expression:synovial fluid, serum (human) |
RGD |
PMID:15194590 |
RGD:7207131 |
NCBI chr 8:4,724,009...4,733,864
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:synovial fluid, serum (human) |
RGD |
PMID:15194590 |
RGD:7207131 |
NCBI chr 3:174,103,474...174,111,434
|
|
G |
Msn |
moesin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr X:60,996,043...61,064,011
|
|
G |
Mtor |
mechanistic target of rapamycin kinase |
treatment |
ISO |
|
RGD |
PMID:24651621 PMID:22084394 |
RGD:10003163, RGD:10003165 |
NCBI chr 5:164,167,985...164,277,438
|
|
G |
Mvp |
major vault protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:191,025,259...191,052,866
|
|
G |
Myh13 |
myosin heavy chain 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr10:52,511,773...52,567,951
|
|
G |
Myl3 |
myosin light chain 3 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 8:119,617,077...119,623,215
|
|
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
|
|
G |
Ncor2 |
nuclear receptor co-repressor 2 |
susceptibility |
ISO |
|
RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr12:37,127,736...37,289,612
|
|
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
|
|
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
|
|
G |
Nfatc1 |
nuclear factor of activated T-cells 1 |
treatment |
IEP |
|
RGD |
PMID:34738623 |
RGD:329328930 |
NCBI chr18:76,321,386...76,430,997
|
|
G |
Ngf |
nerve growth factor |
treatment |
IMP |
|
RGD |
PMID:33806315 PMID:25677108 |
RGD:402463969, RGD:402463970 |
NCBI chr 2:192,589,580...192,642,971
|
|
G |
Nme2 |
NME/NM23 nucleoside diphosphate kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr10:79,394,999...79,400,418
|
|
G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr11:84,612,943...84,690,025
|
|
G |
P3h3 |
prolyl 3-hydroxylase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 4:157,646,242...157,662,035
|
|
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
|
|
G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr X:38,509,158...38,522,986
|
|
G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
IEP |
mRNA:increased expression:tibia (rat) |
RGD |
PMID:21864409 |
RGD:6771362 |
NCBI chr10:92,090,263...92,152,002
|
|
G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
mRNA:increased expression:cartilage tissue (human) |
RGD |
PMID:31472145 |
RGD:152177908 |
NCBI chr 2:34,612,946...34,697,660
|
|
G |
Plcd1 |
phospholipase C, delta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 8:118,795,196...118,818,186
|
|
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
|
|
G |
Pls3 |
plastin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr X:111,589,193...111,683,908
|
|
G |
Pomc |
proopiomelanocortin |
|
ISO |
|
RGD |
PMID:21378032 |
RGD:5508809 |
NCBI chr 6:32,659,137...32,665,175
|
|
G |
Pou3f3 |
POU class 3 homeobox 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17568789 |
|
NCBI chr 9:44,945,872...44,948,998
|
|
G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17568789 |
|
NCBI chr 4:150,095,743...150,221,104
|
|
G |
Ppp2r1a |
protein phosphatase 2 scaffold subunit A alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:69,213,198...69,232,441
|
|
G |
Psmb1 |
proteasome 20S subunit beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:65,115,770...65,136,516
|
|
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 chr13:64,714,063...64,722,320
|
|
G |
Ran |
RAN, member RAS oncogene family |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr12:27,674,049...27,678,598
|
|
G |
Rcn3 |
reticulocalbin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 1:104,700,969...104,710,228
|
|
G |
Runx2 |
RUNX family transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20008919 |
|
NCBI chr 9:23,661,278...23,990,248
|
|
G |
S100a4 |
S100 calcium-binding protein A4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16948116 |
|
NCBI chr 2:178,388,529...178,390,838
|
|
G |
Scrn1 |
secernin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 4:83,632,125...83,694,225
|
|
G |
Sdcbp |
syndecan binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 5:24,245,279...24,314,712
|
|
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
|
|
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
|
|
G |
Serpina1 |
serpin family A member 1 |
|
IEP |
|
RGD |
PMID:20434574 |
RGD:2324964 |
NCBI chr 6:128,631,101...128,653,125
|
|
G |
Sgcg |
sarcoglycan, gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17568789 |
|
NCBI chr15:35,388,836...35,435,072
|
|
G |
Slc2a1 |
solute carrier family 2 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18973239 |
|
NCBI chr 5:138,002,522...138,030,742
|
|
G |
Smad3 |
SMAD family member 3 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism |
CTD MouseDO |
PMID:21217753 PMID:22772368 |
|
NCBI chr 8:64,126,829...64,236,960
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15292528 PMID:18784066 PMID:22108257 |
|
NCBI chr 1:50,043,323...50,050,168
|
|
G |
Tent5a |
terminal nucleotidyltransferase 5A |
susceptibility |
ISO |
DNA:repeats: : |
RGD |
PMID:25231575 |
RGD:14390133 |
NCBI chr 8:95,102,349...95,109,100
|
|
G |
Tfpi2 |
tissue factor pathway inhibitor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15292528 |
|
NCBI chr 4:32,936,462...32,941,385
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30664745 |
|
NCBI chr 1:90,324,312...90,340,627
|
|
G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISS |
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 |
MouseDO |
|
|
NCBI chr 5:66,449,348...66,506,371
|
|
G |
Tgm2 |
transglutaminase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 3:167,192,612...167,221,845
|
|
G |
Tlr8 |
toll-like receptor 8 |
|
ISO |
ClinVar Annotator: match by term: Osteoarthritis |
ClinVar |
|
|
NCBI chr X:30,708,714...30,733,104
|
|
G |
Tnfrsf10b |
TNF receptor superfamily member 10b |
|
IEP |
|
RGD |
PMID:14872496 |
RGD:2290500 |
NCBI chr15:51,249,883...51,278,091
|
|
G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
disease_progression |
ISO |
|
RGD |
PMID:15334463 |
RGD:1625347 |
NCBI chr 7:87,456,318...87,484,324
|
|
G |
Tnfsf10 |
TNF superfamily member 10 |
|
IEP |
|
RGD |
PMID:14872496 |
RGD:2290500 |
NCBI chr 2:112,136,550...112,155,903
|
|
G |
Tnfsf15 |
TNF superfamily member 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30664745 |
|
NCBI chr 5:77,134,885...77,156,171
|
|
G |
Trap1 |
TNF receptor-associated protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr10:11,971,259...12,005,306
|
|
G |
Trim2 |
tripartite motif-containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17568789 |
|
NCBI chr 2:171,798,654...171,950,193
|
|
G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21964574 |
|
NCBI chr12:47,599,161...47,638,143
|
|
G |
Txnrd1 |
thioredoxin reductase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 7:22,717,620...22,802,553
|
|
G |
Vdac2 |
voltage-dependent anion channel 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr15:2,462,877...2,476,802
|
|
G |
Vim |
vimentin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16876394 PMID:18784066 |
|
NCBI chr17:81,577,261...81,585,746
|
|
G |
Ywhaq |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18784066 |
|
NCBI chr 6:46,664,358...46,694,875
|
|
|
G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Namaqualand hip dysplasia | ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1905723 PMID:1975693 PMID:1985108 PMID:7695699 PMID:7757086 PMID:7977371 PMID:8218237 PMID:8423604 PMID:8507190 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9711874 PMID:10372559 PMID:15895462 PMID:16155195 PMID:17078022 PMID:17347327 PMID:18272325 PMID:18276201 PMID:19344236 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26443184 PMID:26467025 PMID:26626311 PMID:28492532 PMID:30138938 PMID:30792901 PMID:33249554 PMID:34008892 PMID:34394176 More...
|
|
NCBI chr 7:130,977,561...131,006,627
|
|
|
G |
Becn1 |
beclin 1 |
treatment |
IEP |
|
RGD |
PMID:23589102 |
RGD:11561955 |
NCBI chr10:86,731,649...86,747,002
|
|
G |
Bmp4 |
bone morphogenetic protein 4 |
|
ISO |
|
RGD |
PMID:19404941 |
RGD:9068434 |
NCBI chr15:22,098,191...22,113,145
|
|
G |
Casp3 |
caspase 3 |
treatment |
IEP |
|
RGD |
PMID:29621761 |
RGD:13782275 |
NCBI chr16:52,395,539...52,413,794
|
|
G |
Casp6 |
caspase 6 |
treatment |
IEP |
|
RGD |
PMID:29621761 |
RGD:13782275 |
NCBI chr 2:221,140,287...221,152,727
|
|
G |
Casp7 |
caspase 7 |
treatment |
IEP |
|
RGD |
PMID:29621761 |
RGD:13782275 |
NCBI chr 1:265,442,647...265,481,938
|
|
G |
Casp8 |
caspase 8 |
treatment |
IEP |
|
RGD |
PMID:29621761 |
RGD:13782275 |
NCBI chr 9:67,747,109...67,806,699
|
|
G |
Col1a1 |
collagen type I alpha 1 chain |
treatment |
IEP |
|
RGD |
PMID:25128628 |
RGD:11041187 |
NCBI chr10:80,380,458...80,397,461
|
|
G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
treatment |
IEP |
|
RGD |
PMID:25975052 |
RGD:150429975 |
NCBI chr13:84,726,412...84,851,032
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
|
RGD |
PMID:22833219 |
RGD:10402072 |
NCBI chr16:73,194,631...73,249,855
|
|
G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
ISO |
|
RGD |
PMID:23041435 |
RGD:10402106 |
NCBI chr12:12,333,050...12,504,750
|
|
G |
Hspa1a |
heat shock protein family A (Hsp70) member 1A |
treatment |
IMP |
|
RGD |
PMID:16394269 |
RGD:10402538 |
NCBI chr20:3,875,411...3,877,866
|
|
G |
Lrpap1 |
LDL receptor related protein associated protein 1 |
|
IEP |
mRNA:decreased expression:knee |
RGD |
PMID:24754147 |
RGD:10412054 |
NCBI chr14:75,651,371...75,663,380
|
|
G |
Map1lc3a |
microtubule-associated protein 1 light chain 3 alpha |
treatment |
IEP |
|
RGD |
PMID:23589102 |
RGD:11561955 |
NCBI chr 3:164,243,204...164,244,850
|
|
G |
Mapk3 |
mitogen activated protein kinase 3 |
|
IEP |
|
RGD |
PMID:29364174 |
RGD:13800565 |
NCBI chr 1:190,797,189...190,803,411
|
|
G |
Ncam1 |
neural cell adhesion molecule 1 |
|
IEP |
protein:decreased expression:skeletal joint |
RGD |
PMID:31742919 |
RGD:40924673 |
NCBI&n |