HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.410 Biomarker disease GENOMICS_ENGLAND Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. 26063658 2015
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.410 Biomarker disease BEFREE In rare, recessively inherited CARASIL the clinical picture and white matter changes are similar as in CADASIL, but cognitive decline begins earlier. 25323668 2014
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.410 GeneticVariation disease CLINVAR