Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.100 GeneticVariation disease GWASCAT Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis. 30552173 2019
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 GeneticVariation disease GWASCAT A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population. 23266558 2013
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 GeneticVariation disease GWASDB A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population. 23266558 2013
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe. 21801394 2011
CUI: C0038325
Disease: Stevens-Johnson Syndrome
Stevens-Johnson Syndrome 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe. 21801394 2011
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.100 GeneticVariation disease GWASCAT The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.100 GeneticVariation disease GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.100 GeneticVariation phenotype GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.100 GeneticVariation phenotype GWASCAT The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.100 GeneticVariation phenotype GWASCAT The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.100 GeneticVariation phenotype GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.100 GeneticVariation phenotype GWASCAT The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.100 GeneticVariation phenotype GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.030 GeneticVariation disease BEFREE Our results show, for the first time, the male-only associations of the PSORS1C3 gene with psoriasis risk and of the PSORS1C1/CDSN gene with severity of disease. 29589160 2018
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.030 GeneticVariation disease BEFREE The -79C, -26C and +246A alleles of the PSORS1C3 gene, the CDSN*971T allele, CDSN*TTC (619T-1236T-1243C) and CDSN*5 (619T-1240G-1243C) are strongly associated with psoriasis in the caucasian population. 16965413 2006
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.030 GeneticVariation disease BEFREE When comparing the frequencies of PSORS1C3 variants in a case-control material in the Swedish population, three single nucleotide polymorphisms displayed significant association with psoriasis. 15848982 2005
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.010 Biomarker disease BEFREE Methylomic profiling of cortex samples from completed suicide cases implicates a role for PSORS1C3 in major depression and suicide. 28045465 2017
CUI: C0852733
Disease: Completed Suicide
Completed Suicide 		0.010 Biomarker phenotype BEFREE Methylomic profiling of cortex samples from completed suicide cases implicates a role for PSORS1C3 in major depression and suicide. 28045465 2017
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.010 GeneticVariation disease BEFREE We identified a DMR upstream of the PSORS1C3 gene, subsequently validated using bisulfite pyrosequencing and replicated in a second set of suicide samples, which is characterised by significant hypomethylation in both cortical brain regions in MDD suicide cases. 28045465 2017
CUI: C1524032
Disease: Depression and Suicide
Depression and Suicide 		0.010 Biomarker disease BEFREE Methylomic profiling of cortex samples from completed suicide cases implicates a role for PSORS1C3 in major depression and suicide. 28045465 2017
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		0.010 GeneticVariation disease BEFREE The PSORS1C3*582A allele, an SNP in the 3'-untranslated region of the PSORS1C3 gene, was a major psoriasis vulgaris susceptibility allele in the Chinese population, and the association was much stronger in patients with early-onset psoriasis vulgaris (22.3% vs. 6.9%, odds ratio = 3.87, P(c) =0.0000072). 16965413 2006