Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.810 GeneticVariation BEFREE We investigated, in 461 psoriatic patients and 454 healthy controls, the associations with psoriasis of four single-nucleotide polymorphisms (SNPs) from the psoriasis susceptibility 1 (PSORS1) interval: rs1062470 (PSORS1C1/CDSN), rs887466 (PSORS1C3), rs2894207 and rs10484554 (LOC105375015). 29589160 2018
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.810 GeneticVariation GWASCAT Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture. 26626624 2015
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.810 GeneticVariation GWASDB A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. 20953190 2010
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.810 GeneticVariation GWASCAT A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. 20953190 2010
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.810 GeneticVariation GWASCAT A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. 18369459 2008
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.810 GeneticVariation GWASDB A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. 18369459 2008
Acquired Immunodeficiency Syndrome
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
0.800 GeneticVariation GWASCAT Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). 19115949 2009
Acquired Immunodeficiency Syndrome
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
0.800 GeneticVariation GWASDB Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). 19115949 2009
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.710 GeneticVariation BEFREE When the HLA-C rs10484554 CC homozygote genotype was used as the reference group, the TT/CT genotypes were associated with a significantly decreased risk for RA (adjusted OR = 0.72, 95% CI = 0.52-0.99, p = 0.044). 24566686 2014
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.710 GeneticVariation GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
HIV-1, RESISTANCE TO
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
Vitiligo
CUI: C0042900
Disease: Vitiligo
0.700 GeneticVariation GWASDB Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. 20526339 2010
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
AIDS, PROGRESSION TO
CUI: C1836233
Disease: AIDS, PROGRESSION TO
0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
HIV-1, RESISTANCE TO
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
0.700 GeneticVariation GWASDB Common genetic variation and the control of HIV-1 in humans. 20041166 2009
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
0.700 GeneticVariation GWASDB Common genetic variation and the control of HIV-1 in humans. 20041166 2009
AIDS, PROGRESSION TO
CUI: C1836233
Disease: AIDS, PROGRESSION TO
0.700 GeneticVariation GWASDB Common genetic variation and the control of HIV-1 in humans. 20041166 2009
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
0.700 GeneticVariation GWASDB Common genetic variation and the control of HIV-1 in humans. 20041166 2009
HIV-1 infection
CUI: C2363741
Disease: HIV-1 infection
0.010 GeneticVariation BEFREE We evaluated the distribution of HLA-C (rs10484554, rs9264942) and ZNRD1 (rs8321) and ZNRD1-AS1 (rs3869068), single nucleotide polymorphisms (SNPs) in 266 HIV-1-infected and 223 unexposed-uninfected individuals from Northeast Brazil and their relation to HIV-1 infection, CD4 T cells count and viral load pre-treatment. 28494720 2017
Salivary Gland Pleomorphic Adenoma
CUI: C1519176
Disease: Salivary Gland Pleomorphic Adenoma
0.010 GeneticVariation BEFREE The most highly associated SNP was rs10484554, which lies 34.7 kb upstream from HLA-C (P = 7.8x10(-11), GWA scan; P = 1.8x10(-30), replication; P = 1.8x10(-39), combined; U.K. PSA: P = 6.9x10(-11)). 18369459 2008
HIV Infections
CUI: C0019693
Disease: HIV Infections
0.010 GeneticVariation BEFREE This variant is associated with low viral set point following HIV infection and its effect is independent of rs10484554. 18369459 2008