CYTB, cytochrome b, 4519

N. diseases: 166; N. variants: 83
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs207460000
rs207460000
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C3151898
Disease:
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		A 0.700 CausalMutation CLINVAR Functional characterization of novel mutations in the human cytochrome b gene. 11464242 2001
dbSNP: rs207460002
rs207460002
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C3151898
Disease:
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		G 0.700 GeneticVariation CLINVAR Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene. 11601507 2001
dbSNP: rs207459998
rs207459998
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C3151898
Disease:
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		A 0.700 CausalMutation CLINVAR Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. 10502593 1999
dbSNP: rs207459997
rs207459997
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C3151898
Disease:
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		A 0.700 GeneticVariation CLINVAR A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. 8910895 1996
dbSNP: rs207459997
rs207459997
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C3151898
Disease:
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		A 0.700 GeneticVariation CLINVAR Antimycin resistance and ubiquinol cytochrome c reductase instability associated with a human cytochrome b mutation. 8988236 1996
dbSNP: rs387906421
rs387906421
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C3151898
Disease:
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		G 0.700 CausalMutation CLINVAR
dbSNP: rs387906421
rs387906421
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C3151898
Disease:
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		C 0.700 CausalMutation CLINVAR