HTRA2, HtrA serine peptidase 2, 27429

N. diseases: 151; N. variants: 6
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 Biomarker disease GENOMICS_ENGLAND Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations. 23462481 2013
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation disease UNIPROT Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. 18401856 2008
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. 18401856 2008
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation disease UNIPROT Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. 15961413 2005
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 Biomarker disease GENOMICS_ENGLAND Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. 15961413 2005
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 Biomarker disease CTD_human
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 SusceptibilityMutation disease CLINVAR