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: 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: rs267606899
rs267606899
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT When does bilateral optic atrophy become Leber hereditary optic neuropathy? 8213825 1993
dbSNP: rs267606899
rs267606899
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. 1732158 1992
dbSNP: rs267606899
rs267606899
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003 1991
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