Disease: Uveitis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895462
rs104895462
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0042164
Disease:
Uveitis 		0.010 GeneticVariation BEFREE A family history of uveitis supported a diagnosis of Blau syndrome, and analysis of the NOD2 gene revealed a heterozygous gain-of-function missense mutation (Arg334Trp) that has previously been detected in Blau syndrome kindreds. 17372104 2007