ND3 (mitochondrially encoded NADH dehydrogenase 3)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 4537
• Gene name: Mitochondrially encoded NADH dehydrogenase 3
• Gene symbol: ND3
• Synonyms (NCBI Gene): MTND3
• Chromosome: MT
• Chromosome location: -

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051471	hsa-let-7e-5p	CLASH	23622248
MIRT051471	hsa-let-7e-5p	CLASH	23622248
MIRT048606	hsa-miR-99a-5p	CLASH	23622248
MIRT036745	hsa-miR-760	CLASH	23622248

Gene ontology (GO) Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16384638, 32320651, 33753518
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IMP	25118196
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	3921850
GO:0006979	Process	Response to oxidative stress	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IBA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	25118196
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	3921850
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0009642	Process	Response to light intensity	IEA
GO:0009725	Process	Response to hormone	IEA
GO:0016020	Component	Membrane	IEA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045271	Component	Respiratory chain complex I	IBA
GO:0045271	Component	Respiratory chain complex I	IDA	12611891
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	NAS	3921850
GO:0071385	Process	Cellular response to glucocorticoid stimulus	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 516002
• HGNC: 7458
• e!Ensembl: HGNC

Protein

• UniProt ID: P03897
• Protein name: NADH-ubiquinone oxidoreductase chain 3 (EC 7.1.1.2) (NADH dehydrogenase subunit 3)
• Protein function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:25118196). Essential for the
• PDB: 5XTC , 5XTD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00507	Oxidored_q4	14 → 113	NADH-ubiquinone/plastoquinone oxidoreductase, chain 3	Family

• Sequence:

  MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAI
  TFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE

• Sequence length: 115

ND3 (-)

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Gene Other IDs Associated diseases Related genes Diseases linked via similar genes

Gene

Entrez ID	6775076
Gene name	-
Gene symbol	ND3
Synonyms (NCBI Gene)	-
Chromosome	MT
Chromosome location	-

Other IDs

MIM	HGNC	e!Ensembl
N/A	N/A	N/A

Interactions View interactions

ND3 (-)

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Gene Other IDs Associated diseases Related genes Diseases linked via similar genes

Gene

Entrez ID	8923206
Gene name	-
Gene symbol	ND3
Synonyms (NCBI Gene)	-
Chromosome	MT
Chromosome location	-

Other IDs

MIM	HGNC	e!Ensembl
N/A	N/A	N/A

Interactions View interactions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (15)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CEREBELLAR ATAXIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE AND BILATERAL CLEFT LIP	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER OPTIC ATROPHY AND DYSTONIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER PLUS DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH DISEASE	—	Disgenet	25118196,10746566,24781757,18828154,7550341,17152068,12796552,14595656,17400793,26095671,11938446,16996290,8395787,9556461,9270604,9501263,17352390	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELAS SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX V DEFICIENCY, MITOCHONDRIAL TYPE 1	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY, HEREDITARY, LEBER	—	Disgenet	19458970,30199507,39923090	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROD-CONE DYSTROPHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULNAR POLYDACTYLY OF FINGERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (80)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	30040709	Associate	★☆☆☆☆ Found in Text Mining only
Angina Pectoris	Angina pectoris	Pubtator	35328073	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28050007	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29414393		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22692071, 24437375, 25300428, 26782384	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	32396277	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	31119613		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29237403	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	8600309		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	35328073	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34724985	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23133645, 35328073	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10666677		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	17152068		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsia Partialis Continua	Epilepsia Partialis Continua	BEFREE	19520270, 27742419		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	24020820		★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	31358833		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
LEBER OPTIC ATROPHY AND DYSTONIA	Leber Plus Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber plus disease	Leber Plus Disease	ORPHANET_DG	19458970		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	CLINVAR_DG	11456298, 14684687, 14705112, 14764913, 15576045, 16023078, 17152068, 17535832, 19458970, 20202874, 25118196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	BEFREE	14764913, 16023078, 16044424, 17152068, 19458970, 24284231, 25118196, 31105631, 31178082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	LHGDN	14764913, 16023078, 17152068		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	UNIPROT_DG	17152068		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh syndrome	Pubtator	32371897, 36093993	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30275759	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29414393		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30275759		★☆☆☆☆ Found in Text Mining only
Maternally Inherited Leigh Syndrome	Maternally Inherited Leigh Syndrome	ORPHANET_DG	16023078, 20202874, 22364517		★☆☆☆☆ Found in Text Mining only
Maternally Inherited Leigh Syndrome	Maternally Inherited Leigh Syndrome	BEFREE	20202874		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	28050007	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELAS Syndrome	MELAS Syndrome	BEFREE	31178082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	14705112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	35715829	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1	Mitochondrial Complex Deficiency	UNIPROT_DG	11456298, 14705112, 20818383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1	Mitochondrial Complex Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	19520270, 27742419, 29237403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29237403	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial encephalopathy	Mitochondrial encephalopathy	BEFREE	14705112		★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35130313	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12353267, 29414393, 8600309		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30040709	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23993954		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35328073	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	12618962, 15827561	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	15827561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24437375	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	31358833	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	8600309		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	19266278		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	24020820		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30275759		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30275759	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	28050007, 29237403	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ND2 10 shared diseasesCerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Leigh syndrome, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Postaxial polydactyly, Rod-cone dystrophy 9 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 11 shared evidence sourcesDisgenet (Cerebellar ataxia), Disgenet (Parkinson disease), Disgenet (Cleft palate and bilateral cleft lip), Disgenet (Leber hereditary optic neuropathy), Disgenet (Leigh syndrome), Disgenet (Melas syndrome), Disgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease), Disgenet (Neuropathy, ataxia, and retinitis pigmentosa), Disgenet (Postaxial polydactyly), Disgenet (Rod-cone dystrophy) Related via 10 shared diseases including Cerebellar ataxia, Cleft palate and bilateral cleft lip — evidence mostly Disgenet. ND5 10 shared diseasesCerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Leigh syndrome, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Postaxial polydactyly, Rod-cone dystrophy 9 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 11 shared evidence sourcesDisgenet (Cerebellar ataxia), Disgenet (Parkinson disease), Disgenet (Cleft palate and bilateral cleft lip), Disgenet (Leber hereditary optic neuropathy), Disgenet (Leigh syndrome), Disgenet (Melas syndrome), Disgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease), Disgenet (Neuropathy, ataxia, and retinitis pigmentosa), Disgenet (Postaxial polydactyly), Disgenet (Rod-cone dystrophy) Related via 10 shared diseases including Cerebellar ataxia, Cleft palate and bilateral cleft lip — evidence mostly Disgenet. ND4L 8 shared diseasesCerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Postaxial polydactyly, Rod-cone dystrophy 7 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy 8 shared evidence sourcesDisgenet (Cerebellar ataxia), Disgenet (Cleft palate and bilateral cleft lip), Disgenet (Leber hereditary optic neuropathy), Disgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease), Disgenet (Neuropathy, ataxia, and retinitis pigmentosa), Disgenet (Postaxial polydactyly), Disgenet (Rod-cone dystrophy) Related via 8 shared diseases including Cerebellar ataxia, Cleft palate and bilateral cleft lip — evidence mostly Disgenet. COX2 9 shared diseasesCerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Postaxial polydactyly, Rod-cone dystrophy 7 shared pathwaysOxidative phosphorylation, Thermogenesis, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport 9 shared evidence sourcesDisgenet (Cerebellar ataxia), Disgenet (Cleft palate and bilateral cleft lip), Disgenet (Leber hereditary optic neuropathy), Disgenet (Melas syndrome), Disgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease), Disgenet (Neuropathy, ataxia, and retinitis pigmentosa), Disgenet (Postaxial polydactyly), Disgenet (Rod-cone dystrophy) Related via 9 shared diseases including Cerebellar ataxia, Cleft palate and bilateral cleft lip — evidence mostly Disgenet. ATP8 9 shared diseasesCerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Postaxial polydactyly, Rod-cone dystrophy 6 shared pathwaysOxidative phosphorylation, Thermogenesis, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy 9 shared evidence sourcesDisgenet (Cerebellar ataxia), Disgenet (Cleft palate and bilateral cleft lip), Disgenet (Leber hereditary optic neuropathy), Disgenet (Melas syndrome), Disgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease), Disgenet (Neuropathy, ataxia, and retinitis pigmentosa), Disgenet (Postaxial polydactyly), Disgenet (Rod-cone dystrophy) Related via 9 shared diseases including Cerebellar ataxia, Cleft palate and bilateral cleft lip — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ND2	10	["Cerebellar ataxia","Cleft palate and bilateral cleft lip","Leber hereditary optic neuropathy","Leigh syndrome","Melas syndrome","Mitochondrial complex deficiency","Mitochondrial disease","Neuropathy, ataxia, and retinitis pigmentosa","Postaxial polydactyly","Rod-cone dystrophy"]	9	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport","Complex I biogenesis"]	11	["Disgenet (Cerebellar ataxia)","Disgenet (Parkinson disease)","Disgenet (Cleft palate and bilateral cleft lip)","Disgenet (Leber hereditary optic neuropathy)","Disgenet (Leigh syndrome)","Disgenet (Melas syndrome)","Disgenet (Mitochondrial complex deficiency)","Disgenet (Mitochondrial disease)","Disgenet (Neuropathy, ataxia, and retinitis pigmentosa)","Disgenet (Postaxial polydactyly)","Disgenet (Rod-cone dystrophy)"]
ND5	10	["Cerebellar ataxia","Cleft palate and bilateral cleft lip","Leber hereditary optic neuropathy","Leigh syndrome","Melas syndrome","Mitochondrial complex deficiency","Mitochondrial disease","Neuropathy, ataxia, and retinitis pigmentosa","Postaxial polydactyly","Rod-cone dystrophy"]	9	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport","Complex I biogenesis"]	11	["Disgenet (Cerebellar ataxia)","Disgenet (Parkinson disease)","Disgenet (Cleft palate and bilateral cleft lip)","Disgenet (Leber hereditary optic neuropathy)","Disgenet (Leigh syndrome)","Disgenet (Melas syndrome)","Disgenet (Mitochondrial complex deficiency)","Disgenet (Mitochondrial disease)","Disgenet (Neuropathy, ataxia, and retinitis pigmentosa)","Disgenet (Postaxial polydactyly)","Disgenet (Rod-cone dystrophy)"]
ND4L	8	["Cerebellar ataxia","Cleft palate and bilateral cleft lip","Leber hereditary optic neuropathy","Mitochondrial complex deficiency","Mitochondrial disease","Neuropathy, ataxia, and retinitis pigmentosa","Postaxial polydactyly","Rod-cone dystrophy"]	7	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	8	["Disgenet (Cerebellar ataxia)","Disgenet (Cleft palate and bilateral cleft lip)","Disgenet (Leber hereditary optic neuropathy)","Disgenet (Mitochondrial complex deficiency)","Disgenet (Mitochondrial disease)","Disgenet (Neuropathy, ataxia, and retinitis pigmentosa)","Disgenet (Postaxial polydactyly)","Disgenet (Rod-cone dystrophy)"]
COX2	9	["Cerebellar ataxia","Cleft palate and bilateral cleft lip","Leber hereditary optic neuropathy","Melas syndrome","Mitochondrial complex deficiency","Mitochondrial disease","Neuropathy, ataxia, and retinitis pigmentosa","Postaxial polydactyly","Rod-cone dystrophy"]	7	["Oxidative phosphorylation","Thermogenesis","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport"]	9	["Disgenet (Cerebellar ataxia)","Disgenet (Cleft palate and bilateral cleft lip)","Disgenet (Leber hereditary optic neuropathy)","Disgenet (Melas syndrome)","Disgenet (Mitochondrial complex deficiency)","Disgenet (Mitochondrial disease)","Disgenet (Neuropathy, ataxia, and retinitis pigmentosa)","Disgenet (Postaxial polydactyly)","Disgenet (Rod-cone dystrophy)"]
ATP8	9	["Cerebellar ataxia","Cleft palate and bilateral cleft lip","Leber hereditary optic neuropathy","Melas syndrome","Mitochondrial complex deficiency","Mitochondrial disease","Neuropathy, ataxia, and retinitis pigmentosa","Postaxial polydactyly","Rod-cone dystrophy"]	6	["Oxidative phosphorylation","Thermogenesis","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	9	["Disgenet (Cerebellar ataxia)","Disgenet (Cleft palate and bilateral cleft lip)","Disgenet (Leber hereditary optic neuropathy)","Disgenet (Melas syndrome)","Disgenet (Mitochondrial complex deficiency)","Disgenet (Mitochondrial disease)","Disgenet (Neuropathy, ataxia, and retinitis pigmentosa)","Disgenet (Postaxial polydactyly)","Disgenet (Rod-cone dystrophy)"]

Diseases Linked via Similar Genes

Developmental delay Linked via 2 of 5 related genesND2, ND5 Multiple sclerosis Linked via 2 of 5 related genesND2, ATP8 Alzheimer disease Linked via 1 of 5 related genesND2 Epilepsy Linked via 1 of 5 related genesND2 Myocardial infarction Linked via 1 of 5 related genesND2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Developmental delay	2	["ND2","ND5"]
Multiple sclerosis	2	["ND2","ATP8"]
Alzheimer disease	1	["ND2"]
Epilepsy	1	["ND2"]
Myocardial infarction	1	["ND2"]