TREX1, three prime repair exonuclease 1, 11277

N. diseases: 241; N. variants: 36
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 		0.020 GeneticVariation disease BEFREE Mutations in the TREX1 and NOTCH3 genes cause retinal vasculopathy with cerebral leukodystrophy (RVCL) and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), respectively. 23602593 2013
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome 		0.020 GeneticVariation disease BEFREE The identification of NOTCH3 mutations in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) and of TREX1 mutations in retinal vasculopathy with cerebral leukodystrophy (RVCL) have led to new insights on lacunar stroke and small-vessel disease. 22113147 2012