Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.420 Biomarker disease BEFREE Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study. 22896740 2013
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.420 GeneticVariation disease GWASCAT Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.420 Biomarker disease CTD_human Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.420 Biomarker disease BEFREE Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.420 GeneticVariation disease GWASDB Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.400 GeneticVariation disease GWASDB Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease. 23041938 2013
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.400 Biomarker disease CTD_human Identification of multiple independent susceptibility loci in the HLA region in Behçet's disease. 23396137 2013
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.400 GeneticVariation disease GWASCAT Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome-wide association study. 23001997 2012
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.400 GeneticVariation disease GWASDB Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome-wide association study. 23001997 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.130 GeneticVariation disease BEFREE Patients carrying PSORS1C1 variant allele did not reach LDA at 6 months in both the whole RA group and ETN treated patients. 28107378 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.130 Biomarker disease BEFREE Polymorphisms in STAT-4, IL-10, PSORS1C1, PTPN2 and MIR146A genes are associated differently with prognostic factors in Italian patients affected by rheumatoid arthritis. 27342690 2016
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.130 AlteredExpression disease BEFREE Western blotting revealed a significant increase in expression of PSORS1C1 in RA synovial tissues, and ELISA detected high levels of PSORS1C1 and CDSN in the blood of RA patients. 23769905 2013
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.130 GeneticVariation disease GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.130 GeneticVariation disease GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007
CUI: C0004096
Disease: Asthma
Asthma 		0.110 GeneticVariation disease GWASCAT Identification of Four Novel Loci in Asthma in European American and African American Populations. 27611488 2017
CUI: C0004096
Disease: Asthma
Asthma 		0.110 Biomarker disease BEFREE Fine mapping of the region in this study and the EVE Asthma Consortium suggests an association between PSORS1C1 and asthma. 24406073 2014
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.110 GeneticVariation disease GWASCAT Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. 23144326 2012
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.110 GeneticVariation disease BEFREE These were genotyped in two COPD populations, finding replicated associations with a SNP in PSORS1C1, in the HLA-C region on chromosome 6. 21949713 2011
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression. 30626913 2019
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		0.100 GeneticVariation disease GWASCAT Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci. 30837455 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals. 30993211 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation disease GWASCAT Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression. 30626913 2019
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018