MAF, MAF bZIP transcription factor, 4094

N. diseases: 71; N. variants: 28
Disease: Coloboma of iris ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.120 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: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.120 GeneticVariation disease BEFREE Through mutation screening of a panel of patients with hereditary congenital cataract we identified a mutation in MAF in a three-generation family with cataract, microcornea and iris coloboma. 11772997 2002
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.120 Biomarker disease HPO