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: rs113993968
rs113993968
Entrez Id: 5654;105378526
Gene Symbol: HTRA1;LOC105378526
HTRA1;LOC105378526
CUI: C1838577
Disease:
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 		0.710 GeneticVariation BEFREE These mutant HTRA1s showed markedly decreased protease activities and inhibited wild-type HTRA1 activity, whereas 2 of 3 mutant HTRA1s reported in cerebral autosomal-recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) (A252T and V297M) did not inhibit wild-type HTRA1 activity. 27164673 2016
dbSNP: rs113993968
rs113993968
Entrez Id: 5654;105378526
Gene Symbol: HTRA1;LOC105378526
HTRA1;LOC105378526
CUI: C1838577
Disease:
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 		A 0.710 CausalMutation CLINVAR Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. 11889251 2002