Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.100 GeneticVariation group GWASDB Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). 19115949 2009
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.100 GeneticVariation phenotype GWASDB Common genetic variation and the control of HIV-1 in humans. 20041166 2009
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.100 GeneticVariation phenotype GWASCAT Common genetic variation and the control of HIV-1 in humans. 20041166 2009
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 Common genetic variation and the control of HIV-1 in humans. 20041166 2009
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: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.100 GeneticVariation phenotype GWASDB Common genetic variation and the control of HIV-1 in humans. 20041166 2009
CUI: C0003864
Disease: Arthritis
Arthritis 		0.010 GeneticVariation disease BEFREE No association was noted between SEEK1(T) allele and onset of psoriasis, PsA, or arthritis pattern. 15708881 2005
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.010 Biomarker disease BEFREE SEEK1 is associated with PsA in the Newfoundland founder population. 15708881 2005
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: 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: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
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: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 25429064 2015
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.100 GeneticVariation group 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: 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: 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: C0406317
Disease: Chronic small plaque psoriasis
Chronic small plaque psoriasis 		0.010 GeneticVariation disease BEFREE We investigated the PSORS1C1 gene for disease association by direct sequencing of the PSORS1C1 gene in 143 Chinese patients with chronic plaque psoriasis and 188 control subjects. 16029332 2005
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: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018