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 Biomarker disease BEFREE This finding is consistent with the role of HTRA1 in AMD pathogenesis and will help aid in the clinical management and prognosis of AMD patients. 18206206 2008
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Our results revealed that HTRA1 rs2672598 is more significantly associated with exudative AMD than PCV in ARMS2/HTRA1 region, and it is responsible for elevated HTRA1 transcriptional activity and HTRA1 protein expression. 27338780 2016
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Significantly, interactions were identified among FPR1 rs78488639, CFH rs800292, and HTRA1 rs11200638 in both exudative AMD and PCV. 25277308 2014