HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Disease: Glycogen storage disease type II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Binary logistic regression analysis binary logistic regression analysis revealed an odds ratio (OR) of 2.7 (95% confidence interval (CI): 1.1-6.8) for AMD among subjects heterozygous for the HTRA1 -625A allele compared to those with the wildtype genotype, when adjusted for CFH Y402H genotypes (p=0.034). 17679948 2007
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE The HTRA1 promoter polymorphism, rs11200638, is a strong candidate with a functional consequence that predisposes Japanese to develop neovascular AMD. 17438519 2007
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE The LOC387715/HTRA1 variants are associated with PCV and wet AMD in the Japanese population. 17692272 2007