MAFB, MAF bZIP transcription factor B, 9935

N. diseases: 135; N. variants: 10
Disease: Type 1 Duane Retraction Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0994516
Disease: Type 1 Duane Retraction Syndrome
Type 1 Duane Retraction Syndrome 		0.400 CausalMutation disease CLINVAR Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. 27181683 2016
CUI: C0994516
Disease: Type 1 Duane Retraction Syndrome
Type 1 Duane Retraction Syndrome 		0.400 Biomarker disease CTD_human