|
RNASEH2A
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the RNaseH2A gene are involved in Aicardi‑Goutieres syndrome, an autosomal recessive neurological dysfunction; however, studies assessing RNaseH2A in relation to glioma are scarce.
|
27176716 |
2016 |
|
RNASEH2A
|
0.440 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
|
25604658 |
2015 |
|
RNASEH2A
|
0.440 |
GeneticVariation
|
disease |
CLINVAR |
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
|
23592335 |
2013 |
|
RNASEH2A
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
|
23592335 |
2013 |
|
RNASEH2A
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR).
|
24183309 |
2013 |
|
RNASEH2A
|
0.440 |
GeneticVariation
|
disease |
CLINVAR |
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.
|
21454563 |
2011 |
|
RNASEH2A
|
0.440 |
GeneticVariation
|
disease |
CLINVAR |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
|
RNASEH2A
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Studies have shown that AGS is an autosomal-recessive disease linked to mutations in 5 genes, encoding the 3'-repair DNA exonuclease 1 (TREX1), the 3 subunits of ribonuclease H2 (RNASEH2A-C), and sterile alpha motif domain and HD domain-containing protein 1 (SAMHD1).
|
20131292 |
2010 |
|
RNASEH2A
|
0.440 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
|
17846997 |
2007 |
|
RNASEH2A
|
0.440 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|