HCP5, HLA complex P5, 10866

N. diseases: 79; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.130 GeneticVariation disease GWASDB A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. 18369459 2008
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.130 Biomarker disease BEFREE Thus, the data suggested that HCP5, TNIP1 and TNFAIP3 may play a role in common pathogenic of psoriasis in Chinese and confer risk factors for psoriasis in various ethnic populations. 25264125 2014
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.130 GeneticVariation disease GWASCAT A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. 18369459 2008
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.130 GeneticVariation disease BEFREE However, rs2395029 encoding the G2V polymorphism within the class I gene HCP5 (combined P = 2.13x10(-26) in U.S. cases) yielded the highest ORs with both PS and PSA (4.1 and 3.2 respectively). 18369459 2008
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.130 GeneticVariation disease BEFREE Hypermethylated genes found included GTPase-related genes, while hypomethylated genes included HCP5, which encodes a lncRNA within the MHC region, previously associated with genetic risk for psoriasis and toxic epidermal necrolysis. 31128893 2019
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.120 GeneticVariation disease GWASCAT Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study. 26151496 2015
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.120 Biomarker disease BEFREE HCP5 and MAGI3 SNPs were further correlated with age of GD onset. 25345847 2015
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.120 GeneticVariation disease BEFREE Regression analysis showed that patients with higher number of HCP5 risk alleles tend to have a significantly earlier onset of GD (P = 6.9 × 10<sup>-5</sup> ). 30358895 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.110 GeneticVariation disease BEFREE We describe a novel significant association between HCP5 locus and SLE susceptibility [rs3099844: P = 0.01, OR = 2.06 (95% CI: 1.18-3.6)]. 25369137 2014
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.110 GeneticVariation disease GWASDB GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. 24871463 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.100 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 		0.100 GeneticVariation disease GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		0.100 GeneticVariation disease GWASCAT A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome. 30833571 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.100 GeneticVariation disease GWASDB Genome-wide association study of coronary artery disease in the Japanese. 21971053 2012
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.100 GeneticVariation disease GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.100 GeneticVariation disease GWASDB Risk alleles for multiple sclerosis identified by a genomewide study. 17660530 2007
CUI: C0027121
Disease: Myositis
Myositis 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes. 26291516 2015
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris 		0.100 GeneticVariation disease GWASDB Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris. 22437316 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.100 GeneticVariation disease GWASCAT Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups. 26362759 2016
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.100 GeneticVariation disease GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
CUI: C0272178
Disease: Drug-induced neutropenia
Drug-induced neutropenia 		0.100 GeneticVariation disease GWASCAT Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study. 26151496 2015
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 GeneticVariation disease GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.100 GeneticVariation disease GWASCAT Common genetic variation and the control of HIV-1 in humans. 20041166 2009
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