Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.110 GeneticVariation disease GWASCAT Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. 28166215 2017
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.110 GeneticVariation disease BEFREE Of the previously identified GWS spirometric genomic regions, three loci harbored SNPs associated with COPD susceptibility at a 5% false discovery rate: the 4q24 locus including FLJ20184/INTS12/GSTCD/NPNT, the 6p21 locus including AGER and PPT2, and the 5q33 locus including ADAM19. 21659657 2011
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT Heritability and Genome-Wide Association Study of Plasma Cholesterol in Chinese Adult Twins. 30498476 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0005910
Disease: Body Weight
Body Weight 		0.100 GeneticVariation phenotype GWASCAT Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. 28548082 2017
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASCAT Gene network analysis in a pediatric cohort identifies novel lung function genes. 24023788 2013
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASCAT Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. 20010835 2010
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.100 GeneticVariation phenotype GWASCAT Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. 20010835 2010
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.100 GeneticVariation phenotype GWASDB Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. 20010835 2010
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.100 GeneticVariation phenotype GWASDB Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. 20010835 2010