MAFB, MAF bZIP transcription factor B, 9935

N. diseases: 135; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730880014
rs730880014
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C2674705
Disease:
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.810 GeneticVariation BEFREE This is the second report of the c.161C>T mutation in a MCTO patient. 29120020 2017
dbSNP: rs730880014
rs730880014
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C2674705
Disease:
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		A 0.810 CausalMutation CLINVAR
dbSNP: rs730880014
rs730880014
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C2674705
Disease:
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.810 GeneticVariation UNIPROT
dbSNP: rs387907004
rs387907004
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C2674705
Disease:
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.800 GeneticVariation UNIPROT Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 22387013 2012
dbSNP: rs387907005
rs387907005
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C2674705
Disease:
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.800 GeneticVariation UNIPROT Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 22387013 2012
dbSNP: rs387907006
rs387907006
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C2674705
Disease:
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.800 GeneticVariation UNIPROT Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 22387013 2012
dbSNP: rs387907007
rs387907007
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C2674705
Disease:
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.800 GeneticVariation UNIPROT Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 22387013 2012
dbSNP: rs387907008
rs387907008
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C2674705
Disease:
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.800 GeneticVariation UNIPROT Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 22387013 2012
dbSNP: rs387907004
rs387907004
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C2674705
Disease:
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		G 0.800 CausalMutation CLINVAR
dbSNP: rs387907005
rs387907005
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C2674705
Disease:
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		C 0.800 CausalMutation CLINVAR
dbSNP: rs387907006
rs387907006
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C2674705
Disease:
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387907007
rs387907007
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C2674705
Disease:
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387907008
rs387907008
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C2674705
Disease:
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		A 0.800 CausalMutation CLINVAR
dbSNP: rs879255275
rs879255275
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		A 0.700 CausalMutation CLINVAR Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. 27181683 2016
dbSNP: rs879255275
rs879255275
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C0994516
Disease:
Type 1 Duane Retraction Syndrome 		A 0.700 CausalMutation CLINVAR Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. 27181683 2016
dbSNP: rs879255276
rs879255276
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		G 0.700 CausalMutation CLINVAR Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. 27181683 2016
dbSNP: rs879255276
rs879255276
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C0994516
Disease:
Type 1 Duane Retraction Syndrome 		G 0.700 CausalMutation CLINVAR Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. 27181683 2016
dbSNP: rs879255277
rs879255277
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C0751083
Disease:
Duane Retraction Syndrome, Type 2 		C 0.700 CausalMutation CLINVAR Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. 27181683 2016
dbSNP: rs879255277
rs879255277
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C0994516
Disease:
Type 1 Duane Retraction Syndrome 		C 0.700 CausalMutation CLINVAR Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. 27181683 2016
dbSNP: rs1555826433
rs1555826433
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C2674705
Disease:
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.700 GeneticVariation UNIPROT Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 22387013 2012
dbSNP: rs879255276
rs879255276
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C4310873
Disease:
DUANE RETRACTION SYNDROME 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs879255277
rs879255277
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
CUI: C4310873
Disease:
DUANE RETRACTION SYNDROME 3 		C 0.700 CausalMutation CLINVAR