XBP1, X-box binding protein 1, 7494

N. diseases: 234; N. variants: 6
Disease: Avellino corneal dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs527564006
rs527564006
Entrez Id: 7494
Gene Symbol: XBP1
XBP1
CUI: C1275685
Disease:
Avellino corneal dystrophy 		0.010 GeneticVariation BEFREE Granular corneal dystrophy type 2 (GCD2) is caused by a point mutation (R124H) in the transforming growth factor β-induced (TGFBI) gene. 27373828 2016