TREX1, three prime repair exonuclease 1, 11277

N. diseases: 241; N. variants: 36
Disease: Chilblains ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008058
Disease: Chilblains
Chilblains 		0.140 GeneticVariation disease BEFREE In this report, whole-exome-sequencing revealed a homozygote R114C mutation in TREX1 gene was shown in two siblings with recurrent chilblains whom one of them was the second case accompanied by cerebral vasculitis in the literature. 28919362 2017
CUI: C0008058
Disease: Chilblains
Chilblains 		0.140 GeneticVariation disease BEFREE There was a strong association between the dominant-type TREX1 mutations and chilblain lesions, and between SAMHD1 mutations and autoimmunity. 24300241 2014
CUI: C0008058
Disease: Chilblains
Chilblains 		0.140 GeneticVariation disease LHGDN A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. 17440703 2007
CUI: C0008058
Disease: Chilblains
Chilblains 		0.140 GeneticVariation disease LHGDN Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 17357087 2007
CUI: C0008058
Disease: Chilblains
Chilblains 		0.140 Biomarker disease HPO