Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.170 | Biomarker | disease | BEFREE | In addition, the risk alleles of the 2 SNPs were significantly associated with down-regulation of SCHIP1, a celiac disease susceptible gene, 91.5 kb upstream of IL12A.These results not only demonstrated that IL12A is associated with PBC in the Chinese Han population but also identified a potential mechanism for its involvement in the pathogenesis of PBC. | 27175695 | 2016 | ||||
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0.170 | GeneticVariation | disease | BEFREE | The co-dominant model of genotype effect confirmed the significant associations between RGS1 rs2816316/IL12A rs17810546 and CD. | 27043536 | 2016 | ||||
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0.170 | Biomarker | disease | BEFREE | Recent genome-wide association studies have identified 1q31 (RGS1), 2q11-12 (IL18RAP), 3p21 (CCR1/CCR3/CCR2), 3q25-26 (IL12A/SCHIP1), 3q28 (LPP), 4q27 (IL2/IL21), 6q25 (TAGAP) and 12q24 (SH2B3) as susceptibility regions for coeliac disease (CD). | 19693089 | 2010 | ||||
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0.170 | GeneticVariation | disease | BEFREE | Consistent signs of positive selection for CD-associated derived alleles were observed in three loci: IL12A, IL18RAP, and SH2B3. | 20560212 | 2010 | ||||
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0.170 | GeneticVariation | disease | BEFREE | The RGS1 risk allele is shared with celiac disease (CD), and the IL12A risk allele seems to be protective for celiac disease. | 20555355 | 2010 | ||||
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0.170 | Biomarker | disease | BEFREE | Common variation in IL2/IL21, RGS1, IL12A/SCHIP and SH2B3 was associated with susceptibility to CD in our Italian cohort. | 18805825 | 2009 | ||||
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0.170 | Biomarker | disease | BEFREE | Loci with distinct effects in the two diseases included INS on chromosome 11p15, IL2RA on chromosome 10p15, and PTPN22 on chromosome 1p13 in type 1 diabetes and IL12A on 3q25 and LPP on 3q28 in celiac disease. | 19073967 | 2008 | ||||
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0.170 | Biomarker | disease | HPO |