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rs2476601 |
SNP |
PedAM |
snpId=rs2476601; pubmedId=19503088; geneId=26191; geneSymbol=PTPN22; diseaseId=umls:C0003873; sourceId=GWASCAT; sentence=REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.; score=0.524345611; Year=2009; geneSymbol_dbSNP=PTPN22;AP4B1-AS1; CHROMOSOME=1; POS=113834946; REF=A; ALT=G |
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rs2476601 |
SNP |
PedAM |
snpId=rs2476601; pubmedId=17804836; geneId=26191; geneSymbol=PTPN22; diseaseId=umls:C0003873; sourceId=GWASCAT; sentence=TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.; score=0.524345611; Year=2007; geneSymbol_dbSNP=PTPN22;AP4B1-AS1; CHROMOSOME=1; POS=113834946; REF=A; ALT=G |
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rs2476601 |
SNP |
PedAM |
snpId=rs2476601; pubmedId=18305142; geneId=26191; geneSymbol=PTPN22; diseaseId=umls:C0003873; sourceId=BeFree; sentence=The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynonymous single nucleotide polymorphism (SNP) of protein tyrosine phosphatase; nonreceptor type 22 (PTPN22) on chromosome 1p13 has been confirmed in type 1 diabetes and also in other autoimmune diseases, including rheumatoid arthritis and Graves' disease.; score=0.524345611; Year=2008; geneSymbol_dbSNP=PTPN22;AP4B1-AS1; CHROMOSOME=1; POS=113834946; REF=A; ALT=G |
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rs2476601 |
SNP |
PedAM |
snpId=rs2476601; pubmedId=20453842; geneId=26191; geneSymbol=PTPN22; diseaseId=umls:C0003873; sourceId=GWASCAT; sentence=Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.; score=0.524345611; Year=2010; geneSymbol_dbSNP=PTPN22;AP4B1-AS1; CHROMOSOME=1; POS=113834946; REF=A; ALT=G |
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rs2476601 |
SNP |
PedAM |
snpId=rs2476601; pubmedId=24449572; geneId=26191; geneSymbol=PTPN22; diseaseId=umls:C0003873; sourceId=GWASCAT; sentence=Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.; score=0.524345611; Year=2013; geneSymbol_dbSNP=PTPN22;AP4B1-AS1; CHROMOSOME=1; POS=113834946; REF=A; ALT=G |
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rs2476601 |
SNP |
PedAM |
snpId=rs2476601; pubmedId=15790351; geneId=52; geneSymbol=ACP1; diseaseId=umls:C0003873; sourceId=BeFree; sentence=A functional variant (R620W) of the intracellular protein tyrosine phosphatase N22 (PTPN22) has now been conclusively shown to confer approximately two-fold risk for seropositive RA as well as several other autoimmune disorders.; score=0.007871814; Year=2005; geneSymbol_dbSNP=PTPN22;AP4B1-AS1; CHROMOSOME=1; POS=113834946; REF=A; ALT=G |
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rs2476601 |
SNP |
PedAM |
snpId=rs2476601; pubmedId=15674368; geneId=26191; geneSymbol=PTPN22; diseaseId=umls:C0003873; sourceId=BeFree; sentence=The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis in a dose-dependent manner but not with HLA-SE status.; score=0.524345611; Year=2005; geneSymbol_dbSNP=PTPN22;AP4B1-AS1; CHROMOSOME=1; POS=113834946; REF=A; ALT=G |
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rs2476601 |
SNP |
PedAM |
snpId=rs2476601; pubmedId=21156761; geneId=26191; geneSymbol=PTPN22; diseaseId=umls:C0003873; sourceId=GWASCAT; sentence=A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.; score=0.524345611; Year=2011; geneSymbol_dbSNP=PTPN22;AP4B1-AS1; CHROMOSOME=1; POS=113834946; REF=A; ALT=G |
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rs2476601 |
SNP |
PedAM |
snpId=rs2476601; pubmedId=20498205; geneId=26191; geneSymbol=PTPN22; diseaseId=umls:C0003873; sourceId=BeFree; sentence=Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs4810485 (CD40), rs5029937 (6q23), rs10760130 (TRAF1/C5) and rs7574865 (STAT4)) were significantly associated with RA by meta-analysis.; score=0.524345611; Year=2010; geneSymbol_dbSNP=PTPN22;AP4B1-AS1; CHROMOSOME=1; POS=113834946; REF=A; ALT=G |
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rs2476601 |
SNP |
PedAM |
snpId=rs2476601; pubmedId=17436241; geneId=26191; geneSymbol=PTPN22; diseaseId=umls:C0003873; sourceId=BeFree; sentence=Consistent interaction, defined as departure from additivity, between HLA-DRB1 SE alleles and the A allele of PTPN22 R620W was seen in all three studies regarding anti-CCP-positive RA.; score=0.524345611; Year=2007; geneSymbol_dbSNP=PTPN22;AP4B1-AS1; CHROMOSOME=1; POS=113834946; REF=A; ALT=G |
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rs2476601 |
SNP |
PedAM |
snpId=rs2476601; pubmedId=22937072; geneId=26191; geneSymbol=PTPN22; diseaseId=umls:C0003873; sourceId=BeFree; sentence=The number of copies of the HLA-DRB1 shared epitope, and the minor alleles of the STAT4 rs7574865 and the PTPN22 rs2476601 polymorphisms have all been linked with an increased risk of developing rheumatoid arthritis.; score=0.524345611; Year=2012; geneSymbol_dbSNP=PTPN22;AP4B1-AS1; CHROMOSOME=1; POS=113834946; REF=A; ALT=G |
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rs2476601 |
SNP |
PedAM |
snpId=rs2476601; pubmedId=23450725; geneId=7128; geneSymbol=TNFAIP3; diseaseId=umls:C0003873; sourceId=BeFree; sentence=Childhood-onset RA was associated with TNFAIP3 rs10499194 (OR 0.60 [95% confidence interval 0.44-0.83]), PTPN22 rs2476601 (OR 1.61 [95% confidence interval 1.11-2.31]), and STAT4 rs7574865 (OR 1.41 [95% confidence interval 1.06-1.87]) variants.; score=0.167568474; Year=2013; geneSymbol_dbSNP=PTPN22;AP4B1-AS1; CHROMOSOME=1; POS=113834946; REF=A; ALT=G |
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rs2542151 |
SNP |
PedAM |
snpId=rs2542151; pubmedId=22021207; geneId=5771; geneSymbol=PTPN2; diseaseId=umls:C0003873; sourceId=BeFree; sentence=The single nucleotide polymorphism (SNP) rs2542151 within the gene locus region encoding protein tyrosine phosphatase non-receptor type 2 (PTPN2) has been associated with Crohn's disease (CD), ulcerative colitis (UC), type-I diabetes, and rheumatoid arthritis.; score=0.248458305; Year=2012; geneSymbol_dbSNP=NA; CHROMOSOME=18; POS=12779948; REF=G; ALT=T |
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rs25487 |
SNP |
PedAM |
snpId=rs25487; pubmedId=21267572; geneId=7515; geneSymbol=XRCC1; diseaseId=umls:C0003873; sourceId=BeFree; sentence=Rheumatoid arthritis risk associates with DNA repair gene XRCC1 Arg399Gln polymorphism in Turkish patients.; score=0.005905708; Year=2012; geneSymbol_dbSNP=XRCC1; CHROMOSOME=19; POS=43551574; REF=T; ALT=C |
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rs25489 |
SNP |
PedAM |
snpId=rs25489; pubmedId=16284769; geneId=7515; geneSymbol=XRCC1; diseaseId=umls:C0003873; sourceId=BeFree; sentence=Possible association of the X-ray cross complementing gene 1 (XRCC1) Arg280His polymorphism as a risk for rheumatoid arthritis.; score=0.005905708; Year=2006; geneSymbol_dbSNP=XRCC1; CHROMOSOME=19; POS=43552260; REF=C; ALT=T,G |
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rs2561477 |
SNP |
PedAM |
snpId=rs2561477; pubmedId=24390342; geneId=90355; geneSymbol=C5orf30; diseaseId=umls:C0003873; sourceId=GWASCAT; sentence=Genetics of rheumatoid arthritis contributes to biology and drug discovery.; score=0.122909916; Year=2013; geneSymbol_dbSNP=C5orf30; CHROMOSOME=5; POS=103273223; REF=G; ALT=A |
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rs2582532 |
SNP |
PedAM |
snpId=rs2582532; pubmedId=24390342; geneId=122618; geneSymbol=PLD4; diseaseId=umls:C0003873; sourceId=GWASCAT; sentence=Genetics of rheumatoid arthritis contributes to biology and drug discovery.; score=0.242638474; Year=2013; geneSymbol_dbSNP=PLD4; CHROMOSOME=14; POS=104926500; REF=T; ALT=C |
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rs26232 |
SNP |
PedAM |
snpId=rs26232; pubmedId=20453842; geneId=90355; geneSymbol=C5orf30; diseaseId=umls:C0003873; sourceId=GWASCAT; sentence=Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.; score=0.122909916; Year=2010; geneSymbol_dbSNP=C5orf30; CHROMOSOME=5; POS=103261019; REF=C; ALT=T |
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rs26232 |
SNP |
PedAM |
snpId=rs26232; pubmedId=20453842; geneId=90355; geneSymbol=C5orf30; diseaseId=umls:C0003873; sourceId=GAD; sentence=[Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.]; score=0.122909916; Year=2010; geneSymbol_dbSNP=C5orf30; CHROMOSOME=5; POS=103261019; REF=C; ALT=T |
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rs26232 |
SNP |
PedAM |
snpId=rs26232; pubmedId=23817893; geneId=90355; geneSymbol=C5orf30; diseaseId=umls:C0003873; sourceId=BeFree; sentence=Allele-dose association of the C5orf30 rs26232 variant with joint damage in rheumatoid arthritis.; score=0.122909916; Year=2013; geneSymbol_dbSNP=C5orf30; CHROMOSOME=5; POS=103261019; REF=C; ALT=T |
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