| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation. | 27411419 | 2017 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. | 25604658 | 2015 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | A practical approach to diagnosing adult onset leukodystrophies. | 24357685 | 2014 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]. | 25582466 | 2014 | ||||
|
0.710 | GermlineCausalMutation | disease | ORPHANET | Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation. | 20876473 | 2010 | ||||
|
0.710 | GermlineCausalMutation | disease | ORPHANET | New roles for the major human 3'-5' exonuclease TREX1 in human disease. | 18583934 | 2008 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | New roles for the major human 3'-5' exonuclease TREX1 in human disease. | 18583934 | 2008 | ||||
|
0.710 | GermlineCausalMutation | disease | ORPHANET | C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. | 17660820 | 2007 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. | 16845398 | 2006 | ||||
|
0.710 | Biomarker | disease | CTD_human |