Disease: AICARDI-GOUTIERES SYNDROME 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777575
rs587777575
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Aicardi-Goutières syndrome is caused by IFIH1 mutations. 24995871 2014
dbSNP: rs587777575
rs587777575
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 24686847 2014
dbSNP: rs587777575
rs587777575
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		T 0.800 CausalMutation CLINVAR