MAF, MAF bZIP transcription factor, 4094

N. diseases: 71; N. variants: 28
Disease: CATARACT 21, MULTIPLE TYPES ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
CATARACT 21, MULTIPLE TYPES 		0.800 GeneticVariation disease UNIPROT Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature. 24664492 2014
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
CATARACT 21, MULTIPLE TYPES 		0.800 Biomarker disease GENOMICS_ENGLAND Novel MAF mutation in a family with congenital cataract-microcornea syndrome. 17982426 2007
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
CATARACT 21, MULTIPLE TYPES 		0.800 GeneticVariation disease UNIPROT "A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant ""cerulean cataract"" in an Indian family." 16470690 2006
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
CATARACT 21, MULTIPLE TYPES 		0.800 Biomarker disease MGD A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding. 12620964 2003
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
CATARACT 21, MULTIPLE TYPES 		0.800 Biomarker disease GENOMICS_ENGLAND Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. 11772997 2002
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
CATARACT 21, MULTIPLE TYPES 		0.800 GeneticVariation disease UNIPROT Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. 11772997 2002
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
CATARACT 21, MULTIPLE TYPES 		0.800 Biomarker disease GENOMICS_ENGLAND Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. 11772997 2002
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
CATARACT 21, MULTIPLE TYPES 		0.800 CausalMutation disease CLINVAR
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
CATARACT 21, MULTIPLE TYPES 		0.800 GeneticVariation disease CLINVAR