RNASEH2A, ribonuclease H2 subunit A, 10535

N. diseases: 116; N. variants: 18
Disease: AICARDI-GOUTIERES SYNDROME 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79767407
rs79767407
Entrez Id: 10535;29911
Gene Symbol: RNASEH2A;HOOK2
RNASEH2A;HOOK2
CUI: C1835912
Disease:
AICARDI-GOUTIERES SYNDROME 4 		0.800 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
dbSNP: rs79767407
rs79767407
Entrez Id: 10535;29911
Gene Symbol: RNASEH2A;HOOK2
RNASEH2A;HOOK2
CUI: C1835912
Disease:
AICARDI-GOUTIERES SYNDROME 4 		0.800 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997 2007
dbSNP: rs79767407
rs79767407
Entrez Id: 10535;29911
Gene Symbol: RNASEH2A;HOOK2
RNASEH2A;HOOK2
CUI: C1835912
Disease:
AICARDI-GOUTIERES SYNDROME 4 		0.800 GeneticVariation UNIPROT Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400 2006
dbSNP: rs79767407
rs79767407
Entrez Id: 10535;29911
Gene Symbol: RNASEH2A;HOOK2
RNASEH2A;HOOK2
CUI: C1835912
Disease:
AICARDI-GOUTIERES SYNDROME 4 		A 0.800 CausalMutation CLINVAR