ND2, MTND2, 4536

N. diseases: 130; N. variants: 69
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.600 GeneticVariation disease UNIPROT The nucleotide pair (np) 13708 mutation (G to A, ND5 gene) changed an alanine to a threonine and was found in 6/25 (24%) of non-11778 LHON pedigrees and in 5.0% of controls, the np 15257 mutation (G to A, cytochrome b gene) changed an aspartate to an asparagine and was found in 4 of the 13708-positive pedigrees and 0.3% of controls, the np 15812 mutation (G to A, cytochrome b gene) changed a valine to a methionine and was detected in two of the 15257-positive pedigrees and 0.1% of controls and the np 5244 mutation (G to A, ND2 gene) changed a glycine to a serine and was found in one of the 15812-positive patients and none of 2103 controls. 1732158 1992
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.600 GeneticVariation disease UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003 1991
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.600 Biomarker disease HPO
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.600 Biomarker disease CTD_human
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.600 CausalMutation disease CLINVAR
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.400 GermlineCausalMutation disease ORPHANET Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance. 15781840 2005
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.400 GermlineCausalMutation disease ORPHANET Paternal inheritance of mitochondrial DNA. 12192017 2002
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.400 CausalMutation disease CLINVAR
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation disease ORPHANET Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome. 16996290 2007
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation disease ORPHANET Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency. 16738010 2006
CUI: C1838990
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL 		0.300 GeneticVariation disease UNIPROT Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains. 1370613 1992
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.110 Biomarker group BEFREE The mitochondrial pharmacogenomics of haplogroup T: MTND2*LHON4917G and antiretroviral therapy-associated peripheral neuropathy. 17684475 2008
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.110 GeneticVariation disease LHGDN Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome. 16996290 2007
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.110 CausalMutation disease CLINVAR
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.110 Biomarker group HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 Biomarker group HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.100 Biomarker group HPO