Gene: RNASEH2B ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease BEFREE Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B. 31678772 2019
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 Biomarker disease BEFREE RNASEH2B-related Aicardi-Goutières syndrome type 2 can have present with a variable phenotype, including idiopathic spastic cerebral palsy. 28762473 2017
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease BEFREE Patients carrying ADAR or RNASEH2B variants showed upregulation of interferon-stimulated gene (ISG) transcripts in peripheral blood as seen in AGS. 29030706 2017
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease CLINVAR Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. 26846091 2016
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease CLINVAR Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response. 26903602 2016
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease CLINVAR Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability. 25274781 2015
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease CLINVAR Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. 26182405 2015
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 Biomarker disease GENOMICS_ENGLAND Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658 2015
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 CausalMutation disease CLINVAR Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658 2015
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease BEFREE AGS is thought to arise from the accumulation of incompletely metabolized endogenous nucleic acid species owing to mutations in nucleic acid-degrading enzymes TREX1 (AGS1), RNase H2 (AGS2, 3 and 4), and SAMHD1 (AGS5). 26182405 2015
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease CLINVAR Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658 2015
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 CausalMutation disease CLINVAR Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 25243380 2014
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease CLINVAR Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome. 25343331 2014
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease CLINVAR Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 25243380 2014
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 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
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease BEFREE A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands. 22882256 2012
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease CLINVAR Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease CLINVAR RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. 19034401 2009
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease BEFREE Moreover, of five analyzed mutations in human RNASEH2B and RNASEH2C linked to Aicardi-Goutières Syndrome (AGS), only one, R69W in the RNASEH2C protein, exhibits a significant reduction in specific activity, revealing a role for the C subunit in enzymatic activity. 19015152 2009
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 CausalMutation disease CLINVAR Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997 2007
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease CLINVAR Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997 2007
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease BEFREE Our results demonstrate significant linkage to a second AGS locus (AGS2) at chromosome 13q14-21 with a maximum multipoint heterogeneity logarithm of the odds (LOD) score of 5.75 at D13S768. 15908569 2006
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 GeneticVariation disease CLINVAR Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400 2006
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 CausalMutation disease CLINVAR Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400 2006
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.680 Biomarker disease GENOMICS_ENGLAND