MAF, MAF bZIP transcription factor, 4094

N. diseases: 71; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent
0.310 GeneticVariation disease BEFREE Individuals with a mutation in MAF may have pulverulent cataract alone or cataract in association with microcornea or iris coloboma. 12642301 2003
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent
0.310 GermlineCausalMutation disease ORPHANET Individuals with a mutation in MAF may have pulverulent cataract alone or cataract in association with microcornea or iris coloboma. 12642301 2003
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent
0.310 GermlineCausalMutation disease ORPHANET Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. 11772997 2002