CYTB, cytochrome b, 4519

N. diseases: 166; N. variants: 83
Disease: Optic Atrophy, Hereditary, Leber ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476104
rs199476104
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation BEFREE Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy. 10072046 1999
dbSNP: rs199476108
rs199476108
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation BEFREE A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber's hereditary optic neuropathy with visual recovery in an Italian family. 12112086 2002
dbSNP: rs199476104
rs199476104
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		C 0.810 CausalMutation CLINVAR Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. 8470982 1993
dbSNP: rs199476108
rs199476108
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		G 0.810 CausalMutation CLINVAR
dbSNP: rs199476108
rs199476108
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		A 0.810 CausalMutation CLINVAR
dbSNP: rs199476106
rs199476106
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		G 0.800 CausalMutation CLINVAR
dbSNP: rs267606899
rs267606899
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		T 0.800 CausalMutation CLINVAR
dbSNP: rs387906425
rs387906425
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397515506
rs397515506
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1131692063
rs1131692063
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		A 0.700 GeneticVariation CLINVAR The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy. 27164671 2016
dbSNP: rs1131692063
rs1131692063
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		A 0.700 GeneticVariation CLINVAR Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. 12736867 2003
dbSNP: rs199476105
rs199476105
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		A 0.700 CausalMutation CLINVAR
dbSNP: rs199974018
rs199974018
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267606895
rs267606895
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267606898
rs267606898
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		A 0.700 CausalMutation CLINVAR The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. 16816025 2006
dbSNP: rs267606898
rs267606898
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		A 0.700 CausalMutation CLINVAR The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. 18332249 2008
dbSNP: rs387906424
rs387906424
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		T 0.700 CausalMutation CLINVAR
dbSNP: rs199476104
rs199476104
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations. 9452107 1998
dbSNP: rs199476104
rs199476104
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830 1992
dbSNP: rs199476104
rs199476104
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. 11133798 2001
dbSNP: rs199476104
rs199476104
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene. 8854108 1996
dbSNP: rs199476104
rs199476104
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene. 10447650 1999
dbSNP: rs199476108
rs199476108
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene. 10447650 1999
dbSNP: rs199476108
rs199476108
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene. 8854108 1996
dbSNP: rs199476108
rs199476108
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830 1992