rs587777449, IFIH1

N. diseases: 6
Disease: AICARDI-GOUTIERES SYNDROME 7 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
AICARDI-GOUTIERES SYNDROME 7
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
AICARDI-GOUTIERES SYNDROME 7
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
0.800 GeneticVariation UNIPROT Aicardi-Goutières syndrome is caused by IFIH1 mutations. 24995871 2014
AICARDI-GOUTIERES SYNDROME 7
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
0.800 CausalMutation CLINVAR
AICARDI-GOUTIERES SYNDROME 7
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
0.800 GeneticVariation CLINVAR