Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
0.150 GeneticVariation disease BEFREE To date, several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome, familial chilblain lupus, retinal vasculopathy-cerebral leukodystrophy have been reported with TREX1 mutations. 28919362 2017
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
0.150 GeneticVariation disease BEFREE Here we briefly describe the human diseases so-far associated with mutations in TREX1, which include Aicardi-Goutières syndrome, familial chilblain lupus, systemic lupus erythematosus and retinal vasculopathy with cerebral leukodystrophy. 25731743 2015
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
0.150 GeneticVariation disease BEFREE TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. 25213617 2015
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
0.150 GeneticVariation disease BEFREE Mutations in TREX1 have been linked to a spectrum of human autoimmune diseases including Aicardi-Goutières syndrome (AGS), familial chilblain lupus (FCL), systemic lupus erythematosus, and retinal vasculopathy and cerebral leukodystrophy. 18805785 2008
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
0.150 GeneticVariation disease BEFREE C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 17660820 2007
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
0.150 Biomarker disease HPO