MAFB, MAF bZIP transcription factor B, 9935

N. diseases: 135; N. variants: 10
Disease: Type 1 Duane Retraction Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255276
rs879255276
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C0994516
Disease:
Type 1 Duane Retraction Syndrome 		G 0.700 CausalMutation CLINVAR Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. 27181683 2016