Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862932
Disease: ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)
ANEURYSM, INTRACRANIAL BERRY, 1 (disorder) 		0.300 GeneticVariation disease ORPHANET Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm. 19299629 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.110 AlteredExpression group LHGDN Expression of TGF-beta1 and its receptor genes (TbetaR I, TbetaR II, and TbetaR III-betaglycan) in peripheral blood leucocytes in patients with idiopathic pulmonary arterial hypertension and Eisenmenger's syndrome. 18097622 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.110 Biomarker group HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 GeneticVariation disease GWASCAT Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. 28736931 2018
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.100 GeneticVariation disease GWASCAT Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis. 29559693 2018
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		0.100 GeneticVariation disease GWASCAT Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis. 29559693 2018
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.100 GeneticVariation phenotype GWASCAT A genome-wide interaction analysis of tricyclic/tetracyclic antidepressants and RR and QT intervals: a pharmacogenomics study from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. 28039329 2017
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0005938
Disease: Bone Density
Bone Density 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. 19249006 2009
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.100 GeneticVariation phenotype GWASDB Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. 19249006 2009
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.100 Biomarker disease HPO
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.100 Biomarker disease HPO
CUI: C0014068
Disease: Encephalomalacia
Encephalomalacia 		0.100 Biomarker disease HPO
CUI: C0018989
Disease: Hemiparesis
Hemiparesis 		0.100 Biomarker phenotype HPO
CUI: C0028866
Disease: Oculomotor Nerve Paralysis
Oculomotor Nerve Paralysis 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		0.100 Biomarker disease HPO
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		0.100 Biomarker disease HPO
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		0.100 Biomarker disease HPO
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		0.100 Biomarker phenotype HPO
CUI: C2713497
Disease: Saccular Aneurysm
Saccular Aneurysm 		0.100 Biomarker disease HPO
CUI: C3887875
Disease: Visual field defects
Visual field defects 		0.100 Biomarker group HPO
CUI: C4022868
Disease: Abnormal circle of Willis morphology
Abnormal circle of Willis morphology 		0.100 Biomarker phenotype HPO