rs34536443, TYK2

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.830 GeneticVariation GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114 2019
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.830 GeneticVariation GWASDB Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.830 GeneticVariation GWASCAT Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.810 GeneticVariation GWASCAT Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. 23143594 2012
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.730 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation GWASCAT Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. 25751624 2015
Sarcoidosis
CUI: C0036202
Disease: Sarcoidosis
0.700 GeneticVariation GWASCAT Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk. 26051272 2015
Psoriasis vulgaris
CUI: C0263361
Disease: Psoriasis vulgaris
0.700 GeneticVariation GWASCAT Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture. 26626624 2015
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.830 GeneticVariation GWASCAT High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. 24532676 2015
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.730 GeneticVariation GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013
Platelet Count measurement
CUI: C0032181
Disease: Platelet Count measurement
0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.830 GeneticVariation BEFREE Finally, in a phenome-wide association study (PheWAS) assessing >500 phenotypes using electronic medical records (EMR) in >29,000 subjects, we found no convincing evidence for association of P1104A and A928V with complex phenotypes other than autoimmune diseases such as RA, SLE and IBD. 25849893 2015
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.830 GeneticVariation BEFREE Computational Molecular Phenotypic Analysis of PTPN22 (W620R), IL6R (D358A), and TYK2 (P1104A) Gene Mutations of Rheumatoid Arthritis. 30899276 2019
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.830 GeneticVariation GWASDB High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.830 GeneticVariation GWASCAT High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.830 GeneticVariation BEFREE Genetic overlap between PsA and RA was detected for the rs34536443 SNP of the TYK2 gene within a Greek population. 27440135 2017
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.810 GeneticVariation GWASDB Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. 23143594 2012
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.810 GeneticVariation BEFREE No significant changes in p-STAT4 for the psoriasis-associated variant rs34536443 was found. 29728633 2018
Oligoarticular Juvenile Idiopathic Arthritis
0.800 GeneticVariation GWASDB Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
Oligoarticular Juvenile Idiopathic Arthritis
0.800 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.750 GeneticVariation BEFREE Cytokine responses for two associated variants (R231W, rs201917359; and R703W, rs55882956) in <i>TYK2</i> as well as a previously reported risk variant (P1004A, rs34536443) for multiple autoimmune diseases were evaluated by reporter assays. 31118190 2019
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.750 GeneticVariation BEFREE Genome wide association studies have linked a SNP (rs34536443) within <i>TYK2</i> encoding a Proline to Alanine substitution at amino acid 1104, to protection from multiple autoimmune diseases including systemic lupus erythematosus (SLE) and multiple sclerosis (MS). 30740104 2019
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.750 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019