TREX1, three prime repair exonuclease 1, 11277

N. diseases: 241; N. variants: 36
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77371662
rs77371662
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C1860518
Disease:
Vasculopathy, Retinal, With Cerebral Leukodystrophy 		TGGC 0.700 CausalMutation CLINVAR The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. 21937424 2011
dbSNP: rs77371662
rs77371662
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C1860518
Disease:
Vasculopathy, Retinal, With Cerebral Leukodystrophy 		TGGC 0.700 CausalMutation CLINVAR Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997 2007