CYB5R3, cytochrome b5 reductase 3, 1727

N. diseases: 73; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749560
Disease:
Methemoglobinemia, Type Ii 		G 0.710 CausalMutation CLINVAR
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749560
Disease:
Methemoglobinemia, Type Ii 		0.710 GeneticVariation BEFREE S127P, a mutant that causes type II methemoglobinemia, was the first to be positively identified and have its spectroscopic and kinetic properties characterized that revealed altered nicotinamide adenine dinucleotide hydride (NADH) substrate binding behavior. 14609324 2003
dbSNP: rs144071404
rs144071404
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0272087
Disease:
Congenital Methemoglobinemia 		T 0.710 CausalMutation CLINVAR Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene. 11295830 2001
dbSNP: rs144071404
rs144071404
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0272087
Disease:
Congenital Methemoglobinemia 		T 0.710 CausalMutation CLINVAR Molecular basis of two novel mutations found in type I methemoglobinemia. 21349748 2011
dbSNP: rs144071404
rs144071404
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0272087
Disease:
Congenital Methemoglobinemia 		0.710 GeneticVariation BEFREE The V252M mutation is present in the NADH-binding domain and associated with both types I and II recessive congenital methemoglobinemia. 16310381 2006
dbSNP: rs144071404
rs144071404
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0272087
Disease:
Congenital Methemoglobinemia 		T 0.710 CausalMutation CLINVAR Compound heterozygosity of two missense mutations in the NADH-cytochrome b5 reductase gene of a Polish patient with type I recessive congenital methaemoglobinaemia. 12756024 2003
dbSNP: rs144071404
rs144071404
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0272087
Disease:
Congenital Methemoglobinemia 		T 0.710 CausalMutation CLINVAR Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infant. 16310381 2006
dbSNP: rs144071404
rs144071404
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0272087
Disease:
Congenital Methemoglobinemia 		T 0.710 CausalMutation CLINVAR Seven new mutations in the nicotinamide adenine dinucleotide reduced-cytochrome b(5) reductase gene leading to methemoglobinemia type I. 11159544 2001
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II. 7718898 1995
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Structural role of serine 127 in the NADH-binding site of human NADH-cytochrome b5 reductase. 1898726 1991
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT [Arginine-glutamine replacement at residue 57 of NADH-cytochrome b5 reductase in Chinese hereditary methemoglobinemia]. 15622768 1997
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia. 10807796 2000
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT An in-frame deletion of codon 298 of the NADH-cytochrome b5 reductase gene results in hereditary methemoglobinemia type II (generalized type). A functional implication for the role of the COOH-terminal region of the enzyme. 8119939 1994
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase. 12393396 2002
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase. 15953014 2005
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type). 1400360 1992
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: putative mechanisms of tissue-dependent enzyme deficiency. 1707593 1991
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I. 9695975 1998
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene. 9886302 1998
dbSNP: rs121965007
rs121965007
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type). 1400360 1992
dbSNP: rs121965007
rs121965007
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749559
Disease:
Methemoglobinemia, Type I 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121965007
rs121965007
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Structural role of serine 127 in the NADH-binding site of human NADH-cytochrome b5 reductase. 1898726 1991
dbSNP: rs121965007
rs121965007
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT An in-frame deletion of codon 298 of the NADH-cytochrome b5 reductase gene results in hereditary methemoglobinemia type II (generalized type). A functional implication for the role of the COOH-terminal region of the enzyme. 8119939 1994
dbSNP: rs121965007
rs121965007
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT [Arginine-glutamine replacement at residue 57 of NADH-cytochrome b5 reductase in Chinese hereditary methemoglobinemia]. 15622768 1997
dbSNP: rs121965007
rs121965007
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase. 12393396 2002