Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome
0.720 GeneticVariation BEFREE A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome. 29779709

2018

Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome
0.720 GermlineCausalMutation 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

Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome
0.720 GeneticVariation 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

Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome
0.720 Biomarker CTD_human

Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome
0.720 Biomarker MGD