Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of blood pressure and hypertension. 19430479 2009
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of blood pressure and hypertension. 19430479 2009
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study of blood pressure and hypertension. 19430479 2009
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study of blood pressure and hypertension. 19430479 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 GeneticVariation group BEFREE Four loci-ATP2B1 (ATPase, Ca(++) transporting, plasma membrane 1), CSK (c-src tyrosine kinase), CYP17A1 (cytochrome P450 17A1) and PLEKHA7 (pleckstrin homology domain-containing family A member 7)-were associated with blood pressure and hypertension in the Korean population. 20414254 2010
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.100 GeneticVariation disease GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. 21909110 2011
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. 21909110 2011
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.100 GeneticVariation phenotype GWASDB Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 GeneticVariation group BEFREE Two variants in CACNB2 and PLEKHA7 were found to be significantly related to hypertension (odds ratios [OR] and (95% confidence interval [CI]): 0.79 (0.65-0.97) and 1.19 (1.01-1.41), respectively) in logistic regression analyses after adjusted by age, sex and BMI. 21963141 2011
CUI: C0206692
Disease: Carcinoma, Lobular
Carcinoma, Lobular 		0.010 AlteredExpression disease BEFREE Genetic up-regulation and overexpression of PLEKHA7 differentiates invasive lobular carcinomas from invasive ductal carcinomas. 22542108 2012
CUI: C1176475
Disease: Ductal Carcinoma
Ductal Carcinoma 		0.010 AlteredExpression disease BEFREE Genetic up-regulation and overexpression of PLEKHA7 differentiates invasive lobular carcinomas from invasive ductal carcinomas. 22542108 2012
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.400 Biomarker disease CTD_human Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. 22922875 2012
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.120 GeneticVariation disease GWASCAT Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. 22922875 2012
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.100 GeneticVariation disease GWASDB Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. 22922875 2012
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.400 GeneticVariation disease BEFREE Three loci defined by single nucleotide polymorphisms (SNPs) rs11024102 in PLEKHA7, rs3753841 in COL11A1, and rs1015213 between the PCMTD1 and ST18 genes, recently have been associated with primary angle closure glaucoma (PACG). 23847314 2013
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		0.200 GeneticVariation disease BEFREE Three loci defined by single nucleotide polymorphisms (SNPs) rs11024102 in PLEKHA7, rs3753841 in COL11A1, and rs1015213 between the PCMTD1 and ST18 genes, recently have been associated with primary angle closure glaucoma (PACG). 23847314 2013
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.120 Biomarker disease BEFREE Further work with a larger sample size is necessary to confirm the importance of COL11A1 and PLEKHA7 in the pathogenesis of glaucoma. 23847314 2013
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.400 GeneticVariation disease BEFREE Three susceptibility loci for primary angle-closure glaucoma (PACG) were recently identified: PLEKHA7 rs11024102, COL11A1 rs3753841, and rs1015213 located in the intergenic region between PCMTD1 and ST18. 23920366 2013
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		0.200 GeneticVariation disease BEFREE Three susceptibility loci for primary angle-closure glaucoma (PACG) were recently identified: PLEKHA7 rs11024102, COL11A1 rs3753841, and rs1015213 located in the intergenic region between PCMTD1 and ST18. 23920366 2013
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.400 GeneticVariation disease BEFREE Recently, three genetic susceptibility loci for primary angle closure glaucoma (PACG) were identified: COL11A1 rs3753841, PCMTD1-ST18 rs1015213, and PLEKHA7 rs11024102. 24474268 2014
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		0.200 GeneticVariation disease BEFREE Recently, three genetic susceptibility loci for primary angle closure glaucoma (PACG) were identified: COL11A1 rs3753841, PCMTD1-ST18 rs1015213, and PLEKHA7 rs11024102. 24474268 2014
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.400 Biomarker disease BEFREE Specific localization of PLEKHA7 was found within PACG-related structures (iris, ciliary body, and choroid) and blood-aqueous barrier (BAB) structures (posterior iris epithelium, nonpigmented ciliary epithelium, iris and ciliary body microvasculature). 24801512 2014
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		0.200 Biomarker disease BEFREE Specific localization of PLEKHA7 was found within PACG-related structures (iris, ciliary body, and choroid) and blood-aqueous barrier (BAB) structures (posterior iris epithelium, nonpigmented ciliary epithelium, iris and ciliary body microvasculature). 24801512 2014
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.400 Biomarker disease BEFREE Both COL11A1 and PLEKHA7 were shown to confer significant risk for acute PAC/PACG. 24854855 2014