MAFB, MAF bZIP transcription factor B, 9935

N. diseases: 135; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.740 GeneticVariation disease BEFREE We report three cases with MCTO and two novel MAFB mutations. 30208859 2018
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.740 Biomarker disease GENOMICS_ENGLAND A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome. 30430035 2018
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.740 Biomarker disease GENOMICS_ENGLAND Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. 27181683 2016
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.740 GeneticVariation disease BEFREE We PCR-amplified and selectively sequenced the MAFB region that contains the transactivation domain in this 323 amino acid protein, where mutations were previously reported for MCTO. 24989131 2014
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.740 GeneticVariation disease BEFREE Recently, heterozygous missense mutations in the V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) (MAFB) gene have been causally related to MCTO patients in 13 unrelated families investigated. 23670161 2013
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.740 Biomarker disease BEFREE We report here the molecular screening of MAFB in eight MCTO patients from six families. 23956186 2013
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.740 Biomarker disease GENOMICS_ENGLAND Recently, heterozygous missense mutations in the V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) (MAFB) gene have been causally related to MCTO patients in 13 unrelated families investigated. 23670161 2013
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.740 GeneticVariation disease UNIPROT Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 22387013 2012
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.740 GermlineCausalMutation disease ORPHANET Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 22387013 2012
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.740 CausalMutation disease CLINVAR
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.740 Biomarker disease CTD_human
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
CUI: C0751083
Disease: Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 2 		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 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: C0751083
Disease: Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 2 		0.400 Biomarker disease CTD_human
CUI: C0994516
Disease: Type 1 Duane Retraction Syndrome
Type 1 Duane Retraction Syndrome 		0.400 Biomarker disease CTD_human
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.310 GeneticVariation disease BEFREE SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance. 20436469 2010
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.310 Biomarker disease CTD_human SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance. 20436469 2010
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
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3 		0.300 Biomarker disease CTD_human
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		0.300 Biomarker disease CTD_human