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: 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: 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: 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: rs28359178
rs28359178
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. 16240359 2005
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: rs869025186
rs869025186
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. 11133798 2001
dbSNP: rs869025186
rs869025186
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.700 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: rs869025186
rs869025186
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations. 9452107 1998
dbSNP: rs869025186
rs869025186
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.700 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: rs28359178
rs28359178
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT When does bilateral optic atrophy become Leber hereditary optic neuropathy? 8213825 1993
dbSNP: rs28359178
rs28359178
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. 1732158 1992
dbSNP: rs41518645
rs41518645
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. 1732158 1992
dbSNP: rs869025186
rs869025186
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830 1992
dbSNP: rs28359178
rs28359178
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003 1991
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: rs200336777
rs200336777
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT
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: 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: rs267606899
rs267606899
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. 16240359 2005
dbSNP: rs387906425
rs387906425
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. 16240359 2005
dbSNP: rs199476106
rs199476106
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. 11133798 2001
dbSNP: rs397515506
rs397515506
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. 11133798 2001
dbSNP: rs199476106
rs199476106
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.800 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: rs397515506
rs397515506
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.800 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