HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Disease: Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776873
rs587776873
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
CUI: C1838577
Disease:
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 		A 0.700 CausalMutation CLINVAR A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population. 21115960 2010