Source: CURATED ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Inflammatory myopathy in a patient with Aicardi-Goutières syndrome. | 28089741 | 2017 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. | 27391121 | 2016 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. | 26182405 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Heterozygous TREX1 mutations in early-onset cerebrovascular disease. | 23881107 | 2013 |
|||
|
A | 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 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. | 21270825 | 2011 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. | 18805785 | 2008 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering. | 17293595 | 2007 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. | 16845398 | 2006 |