Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013146
Disease: Drug abuse
Drug abuse 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013170
Disease: Drug habituation
Drug habituation 		0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0029231
Disease: Organic Mental Disorders, Substance-Induced
Organic Mental Disorders, Substance-Induced 		0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038580
Disease: Substance Dependence
Substance Dependence 		0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0236969
Disease: Substance-Related Disorders
Substance-Related Disorders 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem 		0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C1510472
Disease: Drug Dependence
Drug Dependence 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C4316881
Disease: Prescription Drug Abuse
Prescription Drug Abuse 		0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.130 GeneticVariation disease GWASCAT Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. 30804561 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.130 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 		0.130 Biomarker disease BEFREE Recent genome-wide association studies have shown associations between variants at five loci (TNS1, GSTCD, HTR4, AGER and THSD4) and chronic obstructive pulmonary disease (COPD) or lung function. 24286382 2014
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.130 GeneticVariation disease BEFREE We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12). 22461431 2012
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.130 GeneticVariation disease BEFREE To test association with COPD of variants at five loci (TNS1, GSTCD, HTR4, AGER, and THSD4) and to evaluate joint effects on lung function and COPD of these single-nucleotide polymorphisms (SNPs), and variants at the previously reported locus near HHIP. 21965014 2011
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.100 GeneticVariation phenotype GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
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: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of lung function phenotypes in a founder population. 23932459 2014
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study of lung function phenotypes in a founder population. 23932459 2014
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study of lung function phenotypes in a founder population. 23932459 2014