RNASEH2C, ribonuclease H2 subunit C, 84153

N. diseases: 120; N. variants: 11
Disease: AICARDI-GOUTIERES SYNDROME 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation disease CLINVAR p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome. 29150899 2018
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 Biomarker disease GENOMICS_ENGLAND Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation. 27411419 2017
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 Biomarker disease GENOMICS_ENGLAND Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658 2015
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation disease CLINVAR Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C. 23322642 2013
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 Biomarker disease GENOMICS_ENGLAND Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation disease UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation disease CLINVAR Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation disease CLINVAR Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997 2007
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation disease UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997 2007
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400 2006
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400 2006
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation disease UNIPROT Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400 2006
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation disease CLINVAR Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400 2006
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 CausalMutation disease CLINVAR
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 3 		0.700 Biomarker disease CTD_human