Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.400 GeneticVariation disease BEFREE PLEKHA7 and COL11A1 were genotyped for single-nucleotide polymorphisms (SNPs) to investigate the possible association of these two genes with primary angle-closure glaucoma (PACG) and disease severity. 30809385 2019
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.400 GeneticVariation disease BEFREE Genotype data of the 8 PACG single-nucleotide polymorphisms (SNPs) (rs11024102 at PLEKHA7, rs3753841 at COL11A1, rs1015213 located between PCMTD1 and ST18 on Chromosome 8q, rs3816415 at EPDR1, rs1258267 at CHAT, rs736893 at GLIS3, rs7494379 at FERMT2, and rs3739821 mapping in between DPM2 and FAM102A) were available. 31377279 2019
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.400 GeneticVariation disease BEFREE The 8 PACG single nucleotide polymorphisms (SNPs; rs11024102 at PLEKHA7, rs3753841 at COL11A1, rs1015213 located between PCMTD1 and ST18 son chromosome 8q, rs3816415 at EPDR1, rs1258267 at CHAT, rs736893 at GLIS3, rs7494379 at FERMT2, and rs3739821 mapping in between DPM2 and FAM102A) were genotyped by Taqman assays. 29310965 2018
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.400 AlteredExpression disease BEFREE Thus, downregulation of PLEKHA7 in PACG may affect BAB integrity and aqueous humor outflow via its Rac1/Cdc42 GAP activity, thereby contributing to disease etiology. 29016860 2017
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.400 GeneticVariation disease BEFREE We affirmed the association of PACG and combined PACS/PAC/PACG with 10 polymorphisms in 8 genes/loci, including COL11A1 (rs3753841-G, OR, 1.22; P = 0.00046), HGF (rs17427817-C, OR, 2.02; P = 6.9E-07; rs5745718-A, OR, 2.11; P = 9.9E-07), HSP70 (rs1043618, GG+GC, OR, 0.52; P = 0.0010), MFRP (rs2510143-C, OR, 0.66; P = 0.012; rs3814762-G, OR, 1.40; P = 0.0090), MMP9 (rs3918249-C, OR, 1.35; P = 0.034), NOS3 (rs7830-A, OR, 0.80; P = 0.036), PLEKHA7 (rs11024102-G, OR, 1.24; P = 8.3E-05), and PCMTD1-ST18 (rs1015213-A, OR, 1.59; P = 0.00013). 26854036 2016
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.400 Biomarker disease CTD_human We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG. 27064256 2016
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.400 Biomarker disease BEFREE Recent genome-wide association studies revealed a large number of susceptibility gene variants associated with both POAG (e.g., CDKN2BAS, CAV1/CAV2, and ATOH7) and PACG (e.g., PLEKHA7 and COL11A1 PCMTD1-ST18). 26497787 2015
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.400 GeneticVariation disease BEFREE Genetic associations in PLEKHA7 and COL11A1 with primary angle closure glaucoma: a meta-analysis. 25732101 2015
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: 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: 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
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: 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: 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