RNASEH2C, ribonuclease H2 subunit C, 84153

N. diseases: 120; N. variants: 11
Disease: AICARDI-GOUTIERES SYNDROME 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75328625
rs75328625
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
dbSNP: rs75328625
rs75328625
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997 2007
dbSNP: rs75328625
rs75328625
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C1835916
Disease:
AICARDI-GOUTIERES SYNDROME 3 		0.700 GeneticVariation UNIPROT Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400 2006