Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese. 31417091 2019
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. 30664634 2019
CUI: C0455829
Disease: Waist Circumference
Waist Circumference
0.100 GeneticVariation phenotype GWASCAT Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank. 31453325 2019
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank. 31453325 2019
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese. 31417091 2019
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. 29273807 2018
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. 26426971 2015
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure
0.100 GeneticVariation phenotype GWASDB Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. 23669352 2013
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index
0.100 GeneticVariation phenotype GWASDB Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. 23669352 2013
CUI: C0028754
Disease: Obesity
Obesity
0.100 GeneticVariation disease GWASDB A genome-wide association meta-analysis identifies new childhood obesity loci. 22484627 2012
CUI: C1314691
Disease: Age at menarche
Age at menarche
0.100 GeneticVariation phenotype GWASDB Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. 21102462 2010
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure
0.100 GeneticVariation phenotype GWASDB Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. 19079260 2009
CUI: C0005910
Disease: Body Weight
Body Weight
0.100 GeneticVariation phenotype GWASDB Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. 19079260 2009
CUI: C0005910
Disease: Body Weight
Body Weight
0.100 GeneticVariation phenotype GWASCAT Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. 19079260 2009
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index
0.100 GeneticVariation phenotype GWASDB Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. 19079260 2009
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. 19079260 2009
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.010 Biomarker disease BEFREE There is evidence that the obesity phenotype in the Caucasian populations is associated with variations in several genes, including neuronal growth regulator 1 (NEGR1), SEC16 homolog B (SCE16B), transmembrane protein 18 (TMEM18), ets variant 5 (ETV5), glucosamine-6-phosphate deaminase 2 (GNPDA2), prolactin (PRL), brain-derived neurotrophic factor (BDNF), mitochondrial carrier homolog 2 (MTCH2), Fas apoptotic inhibitory molecule 2 (FAIM2), SH2B adaptor protein 1 (SH2B1), v-maf musculoaponeurotic fibrosarcoma oncogene homolog (MAF), Niemann-Pick disease, type C1 (NPC1), melanocortin 4 receptor (MC4R) and potassium channel tetramerisation domain containing 15 (KCTD15). 19851340 2009