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 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 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 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 UNIPROT Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 22387013 2012
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 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: 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: C0008925
Disease: Cleft Palate
Cleft Palate 		0.110 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: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.080 GeneticVariation disease BEFREE The recurrent translocation t(14;20)(q32;q12) in multiple myeloma results in aberrant expression of MAFB: a molecular and genetic analysis of the chromosomal breakpoint. 15257707 2004
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.080 GeneticVariation disease BEFREE Double color fluorescence in situ hybridization analyses pinpointed the breakpoints at the 20q11 locus in two MM cell lines within a length of at most 680 kb between the KIAA0823 and MAFB gene loci. 11429052 2001
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.020 GeneticVariation disease BEFREE Polymorphic Variants of V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog B (rs13041247 and rs11696257) and Risk of Non-Syndromic Cleft Lip/Palate: Systematic Review and Meta-Analysis. 31387249 2019
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.020 GeneticVariation disease BEFREE Association of polymorphisms in the MAFB gene and the risk of coronary artery disease and ischemic stroke: a case-control study. 26204962 2015
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 GeneticVariation disease BEFREE Association of polymorphisms in the MAFB gene and the risk of coronary artery disease and ischemic stroke: a case-control study. 26204962 2015
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 GeneticVariation disease BEFREE Association of polymorphisms in the MAFB gene and the risk of coronary artery disease and ischemic stroke: a case-control study. 26204962 2015
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		0.010 GeneticVariation disease BEFREE Recently, mutations in a highly conserved region of the MAFB gene (v-maf musculoaponeurotic fibrosarcoma oncogene ortholog B) have been identified in MCTO patients by exome sequencing. 23956186 2013
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.010 GeneticVariation disease BEFREE A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome. 29779709 2018
CUI: C0023484
Disease: Leukemia, Plasma Cell
Leukemia, Plasma Cell 		0.010 GeneticVariation disease BEFREE We investigated the expression profiles of the FGFR3/MMSET, CCND1, CCND3, MAF, and MAFB genes, which are involved in t(4;14)(p16.3;q32), t(11;14)(q13;q32), t(6;14)(p21;q32), t(14;16)(q32;q23), and t(14;20)(q32;q12), respectively, in purified plasma cell populations from 39 MMs and six plasma cell leukemias (PCL) by DNA microarray analysis and compared the results with the presence of translocations as assessed by dual-color FISH or RT-PCR. 15543617 2005
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 GeneticVariation disease BEFREE Because miR-338-3p is crucial for osteoclastic differentiation via targeting of the transcription factor MafB, inhibition of this miRNA represents a potential strategy for modulating osteoporosis in an aging population. 30716449 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 GeneticVariation disease BEFREE Although the locus is located in inter-genic region, the nearest genes (HSPEP1-MAFB) from this locus are promising candidates for TB susceptibility. 22551897 2012
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		0.010 GeneticVariation disease BEFREE Recently, mutations in a highly conserved region of the MAFB gene (v-maf musculoaponeurotic fibrosarcoma oncogene ortholog B) have been identified in MCTO patients by exome sequencing. 23956186 2013
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.010 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: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 GeneticVariation disease BEFREE To further assess its role in NSCLP, we investigated 3 identified single nucleotide polymorphisms in MAFB (rs13041247, rs6065259, and rs11696257) and examined them for association with NSCLP in 344 patients and 324 healthy controls in a northern Chinese Han population with a high incidence of the syndrome. 24972815 2014
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 GeneticVariation disease BEFREE Association of polymorphisms in the MAFB gene and the risk of coronary artery disease and ischemic stroke: a case-control study. 26204962 2015
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.010 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: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 GeneticVariation phenotype 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