MAFB, MAF bZIP transcription factor B, 9935

N. diseases: 135; N. variants: 10
Disease: DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310752
Disease: DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS
DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS 		0.300 Biomarker disease GENOMICS_ENGLAND An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome. 23670161 2013