MAF, MAF bZIP transcription factor, 4094

N. diseases: 71; N. variants: 28
Disease: Cataract, Pulverulent ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917735
rs121917735
Entrez Id: 4094;101928230
Gene Symbol: MAF;LOC101928230
MAF;LOC101928230
CUI: C1833118
Disease:
Cataract, Pulverulent 		0.010 GeneticVariation BEFREE MAF expression constructs were constructed with the wildtype MAF sequence and with each of the three known mutations, i.e., R288P (associated with pulverulent cataract), K297R (associated with cerulean cataract), and R299S (associated with the most severe phenotype, congenital cataract, and microcornea syndrome). 25064449 2014