MAF, MAF bZIP transcription factor, 4094

N. diseases: 71; N. variants: 28
Disease: CATARACT, COPPOCK-LIKE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.300 GermlineCausalMutation disease ORPHANET Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. 12642301 2003
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.300 GermlineCausalMutation disease ORPHANET Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. 11772997 2002