Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606893
rs267606893
ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 GeneticVariation UNIPROT A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 12796552

2003
dbSNP: rs267606893
rs267606893
ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 GeneticVariation UNIPROT Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002
dbSNP: rs267606894
rs267606894
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 17400793

2007
dbSNP: rs267606894
rs267606894
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 15767514

2005
dbSNP: rs267606894
rs267606894
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 12509858

2003
dbSNP: rs267606894
rs267606894
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 9299505

1997
dbSNP: rs267606895
rs267606895
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 17400793

2007
dbSNP: rs267606895
rs267606895
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 15767514

2005
dbSNP: rs267606895
rs267606895
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 12509858

2003
dbSNP: rs267606895
rs267606895
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 9299505

1997
dbSNP: rs267606897
rs267606897
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 17400793

2007
dbSNP: rs267606897
rs267606897
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 15767514

2005
dbSNP: rs267606897
rs267606897
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 12509858

2003
dbSNP: rs267606897
rs267606897
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 9299505

1997
dbSNP: rs267606898
rs267606898
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 17400793

2007
dbSNP: rs267606898
rs267606898
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 15767514

2005
dbSNP: rs267606898
rs267606898
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 12509858

2003
dbSNP: rs267606898
rs267606898
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 9299505

1997
dbSNP: rs267606899
rs267606899
CYTB ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
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
CYTB ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT When does bilateral optic atrophy become Leber hereditary optic neuropathy? 8213825

1993
dbSNP: rs267606899
rs267606899
CYTB ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
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
CYTB ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003

1991
dbSNP: rs387906424
rs387906424
CYTB ; ND5 ; ND6
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		0.800 GeneticVariation UNIPROT Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. 8644732

1996
dbSNP: rs387906424
rs387906424
CYTB ; ND5 ; ND6
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		0.800 GeneticVariation UNIPROT A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. 8016139

1994
dbSNP: rs387906425
rs387906425
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
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