Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0424678
Disease: Lean body mass
Lean body mass
0.100 GeneticVariation phenotype GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.100 GeneticVariation phenotype GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858 2018
CUI: C1285654
Disease: Memory performance
Memory performance
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. 29274321 2018
Platelet mean volume determination (procedure)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.100 GeneticVariation phenotype GWASDB Genetic associations with C-reactive protein level and white blood cell count in the KARE study. 22788528 2013
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.100 GeneticVariation phenotype GWASCAT Genetic associations with C-reactive protein level and white blood cell count in the KARE study. 22788528 2013
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation disease GWASDB [Genome-wide association study of allergic diseases in Russians of Western Siberia]. 21790008 2011
CUI: C0455829
Disease: Waist Circumference
Waist Circumference
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. 20966902 2011
CUI: C0455829
Disease: Waist Circumference
Waist Circumference
0.100 GeneticVariation phenotype GWASDB Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. 20966902 2011
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 GeneticVariation disease GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.020 Biomarker disease BEFREE We identified rare variants in genes never directly associated with AF: KCNE4, SCN4B, NEURL1, and CAND2. 28549997 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.020 GeneticVariation disease BEFREE Logistical regression analysis revealed a difference in the distribution of KCNE4 E145D in the AF and the community control group (minor allele frequency was 34.0 versus 27.1% respectively, OR = 1.66, p = 0.044). 17016049 2007
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.020 GeneticVariation disease LHGDN Logistical regression analysis revealed a difference in the distribution of KCNE4 E145D in the AF and the community control group (minor allele frequency was 34.0 versus 27.1% respectively, OR = 1.66, p = 0.044). 17016049 2007
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.010 Biomarker phenotype BEFREE KCNE4, a cardiac arrhythmia-associated potassium channel β-subunit, is upregulated by 5α-dihydrotestosterone (DHT). 29844497 2018
Adverse Event Associated with Cardiac Arrhythmia
0.010 Biomarker phenotype BEFREE KCNE4, a cardiac arrhythmia-associated potassium channel β-subunit, is upregulated by 5α-dihydrotestosterone (DHT). 29844497 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 AlteredExpression group BEFREE Several ion-channels showed significantly increased expression in tumors (p < 0.0005); nine genes (namely, CACNA1D, FXYD3, FXYD5, HTR3A, KCNE3, KCNE4, KCNN4, CLIC1, TRPM3) showed such significant modification in at least half of datasets investigated for each cancer type. 27716384 2016