Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		0.400 GeneticVariation disease GWASCAT Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. 30664745 2019
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		0.400 Biomarker disease CTD_human Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis. 30374069 2018
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		0.400 GeneticVariation disease GWASCAT Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis. 30374069 2018
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.200 Biomarker disease RGD Chronic hyperglycaemia increases TGFbeta2 signaling and the expression of extracellular matrix proteins in the rat parotid gland. 17574405 2007
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		0.200 Biomarker disease RGD We hypothesized that LTBP-1 and fibrillin-1 are coexpressed in the glomerulus and upregulated during glomerulonephritis. 16282705 2006
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.200 Therapeutic disease RGD Beta(2)-adrenoceptor stimulation enhances latent transforming growth factor-beta-binding protein-1 and transforming growth factor-beta1 expression in rat hippocampus after transient forebrain ischemia. 11720783 2001
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.110 GeneticVariation disease GWASCAT Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. 30664745 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.110 AlteredExpression disease BEFREE Furthermore, siRNA‑mediated downregulation of LTBP‑1 reduced proliferation of OA FLS. 29257223 2018
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		0.100 GeneticVariation disease GWASCAT A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome. 30833571 2019
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.100 GeneticVariation disease GWASCAT Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. 30664745 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		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: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. 29785010 2018
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness 		0.100 GeneticVariation phenotype GWASCAT Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. 29760442 2018
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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0037369
Disease: Smoking
Smoking 		0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. 29235454 2017
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. 28448500 2017
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