MAFB, MAF bZIP transcription factor B, 9935

N. diseases: 135; N. variants: 10
Disease: Duane Retraction Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.720 GeneticVariation disease BEFREE A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome. 29779709 2018
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.720 GermlineCausalMutation disease ORPHANET Here, we report on three heterozygous loss-of-function MAFB mutations causing DRS and a dominant-negative MAFB mutation causing DRS and deafness. 27181683 2016
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.720 GeneticVariation disease BEFREE Here, we report on three heterozygous loss-of-function MAFB mutations causing DRS and a dominant-negative MAFB mutation causing DRS and deafness. 27181683 2016
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.720 Biomarker disease CTD_human
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.720 Biomarker disease MGD