HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Disease: CADASIL Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome 		0.340 GeneticVariation disease BEFREE Mutations in the Notch receptor 3 gene (NOTCH3) and the HtrA serine peptidase 1 gene (HTRA1) are 2 genetic causes for CADASIL. 31212292 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome 		0.340 Biomarker disease BEFREE Our study provides evidence for a loss of HTRA1 function as a critical step in the development of CADASIL pathology linking the molecular mechanisms of two distinct SVD forms. 29725820 2018
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome 		0.340 Biomarker disease BEFREE Measurements of plasma endostatin, HTRA1 and N3ECD, along with VSMC quantification in retinal arteries, may serve as surrogate endpoints for assessing efficacy in preclinical therapeutic studies of CADASIL using mice. 27174004 2016
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome 		0.340 Biomarker disease BEFREE A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients. 25929831 2015
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome 		0.340 Biomarker disease CTD_human