| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | Clinical and molecular phenotype of Aicardi-Goutieres syndrome. | 17846997 | 2007 | ||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome. | 21454563 | 2011 | ||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome. | 23592335 | 2013 | ||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. | 20131292 | 2010 | ||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. | 16845400 | 2006 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. | 20131292 | 2010 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Clinical and molecular phenotype of Aicardi-Goutieres syndrome. | 17846997 | 2007 | |||||||
|
|
|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. | 20131292 | 2010 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. | 16845400 | 2006 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Clinical and molecular phenotype of Aicardi-Goutieres syndrome. | 17846997 | 2007 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Clinical and molecular phenotype of Aicardi-Goutieres syndrome. | 17846997 | 2007 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. | 16845400 | 2006 | |||||||
|
|
|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. | 20131292 | 2010 | |||||||
|
|
|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Clinical and molecular phenotype of Aicardi-Goutieres syndrome. | 17846997 | 2007 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. | 20131292 | 2010 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. | 16845400 | 2006 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. | 16845400 | 2006 | |||||||
|
|
|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. | 20131292 | 2010 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Clinical and molecular phenotype of Aicardi-Goutieres syndrome. | 17846997 | 2007 | |||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR |