Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		0.700 Biomarker GENOMICS_ENGLAND Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658

2015
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		0.700 Biomarker GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685

2014
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		0.700 Biomarker GENOMICS_ENGLAND Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome. 21454563

2011
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		0.700 Biomarker GENOMICS_ENGLAND Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400

2006
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		0.700 Biomarker GENOMICS_ENGLAND Genetic syndromes mimic congenital infections. 15870678

2005
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
CUI: C1835912
Disease: AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 4 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		0.440 Biomarker GENOMICS_ENGLAND Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658

2015
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		0.440 Biomarker GENOMICS_ENGLAND

Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker GENOMICS_ENGLAND Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400

2006
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker GENOMICS_ENGLAND Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome. 21454563

2011