Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4723
Gene name	NADH:ubiquinone oxidoreductase core subunit V1
Gene symbol	NDUFV1
Synonyms (NCBI Gene)	CI-51KCI51KDMC1DN4UQOR1
Chromosome	11
Chromosome location	11q13.2
Summary	The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:u

Show/Hide all (20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1127511	C>A,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs121913659	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121913661	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs142499054	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs150966634	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs199683937	A>C	Pathogenic, likely-pathogenic	Intron variant
rs201289242	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs536758576	G>A	Pathogenic	Missense variant, coding sequence variant
rs750831299	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs755312472	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs757486575	G>A	Pathogenic	Missense variant, coding sequence variant
rs766830864	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs767602961	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs777692271	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs778295360	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs863224118	A>C	Pathogenic	Missense variant, coding sequence variant
rs863224119	TAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs863224120	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs1135402749	T>C	Pathogenic	Missense variant, coding sequence variant
rs1591111808	G>T	Likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all (8)

miRTarBase ID	miRNA	Experiments	Reference
MIRT041953	hsa-miR-484	CLASH	23622248
MIRT2280976	hsa-miR-1179	CLIP-seq
MIRT2280977	hsa-miR-198	CLIP-seq
MIRT2280978	hsa-miR-338-3p	CLIP-seq
MIRT2280979	hsa-miR-4310	CLIP-seq
MIRT2280980	hsa-miR-4315	CLIP-seq
MIRT2280981	hsa-miR-4530	CLIP-seq
MIRT2280982	hsa-miR-4790-5p	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
SP1	Activation	17786189

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24344204, 30021884, 31536960, 32296183, 32814053, 33961781
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	NAS	8288251
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IBA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IC	11112787
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IDA	28844695
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IEA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IDA	28844695
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	8288251, 9878551
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0010181	Function	FMN binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0042775	Process	Mitochondrial ATP synthesis coupled electron transport	IMP	24746669
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, 28844695, 31536960
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	IMP	11112787, 24746669
GO:0046872	Function	Metal ion binding	IEA
GO:0051287	Function	NAD binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
161015	7716	ENSG00000167792

P49821

Protein name

NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial (NDUFV1) (EC 7.1.1.2) (Complex I-51kD) (CI-51kD) (NADH dehydrogenase flavoprotein 1) (NADH-ubiquinone oxidoreductase 51 kDa subunit)

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:28844695). Part of the periph

PDB

5XTB , 5XTD , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01512	Complex1_51K	80 → 252	Respiratory-chain NADH dehydrogenase 51 Kd subunit	Family
PF10531	SLBB	275 → 326	SLBB domain	Domain
PF10589	NADH_4Fe-4S	365 → 449	NADH-ubiquinone oxidoreductase-F iron-sulfur binding region	Domain

Sequence

MLATRRLLGWSLPARVSVRFSGDTTAPKKTSFGSLKDEDRIFTNLYGRHDWRLKGSLSRG
DWYKTKEILLKGPDWILGEIKTSGLRGRGGAGFPTGLKWSFMNKPSDGRPKYLVVNADEG
EPGTCKDREILRHDPHKLLEGCLVGGRAMGARAAYIYIRGEFYNEASNLQVAIREAYEAG
LIGKNACGSGYDFDVFVVRGAGAYICGEETALIESIEGKQGKPRLKPPFPADVGVFGCPT
TVANVETVAVSPTICRRGGTWFAGFGRERNSGTKLFNISGHVNHPCTVEEEMSVPLKELI
EKHAGGVTGGWDNLLAVIPGGSSTPLIPKSVCETVLMDFDALVQAQTGLGTAAVIVMDRS
TDIVKAIARLIEFYKHESCGQCTPCREGVDWMNKVMARFVRGDARPAEIDSLWEISKQIE
GHTICALGDGAAWPVQGLIRHFRPELEERMQRFAQQHQARQAAS

Sequence length

464

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Thermogenesis Retrograde endocannabinoid signaling Non-alcoholic fatty liver disease Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Chemical carcinogenesis - reactive oxygen species Diabetic cardiomyopathy		Respiratory electron transport Complex I biogenesis

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)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Leigh syndrome	Likely pathogenic; Pathogenic	rs750831299, rs1316287327, rs1854876433, rs121913659, rs768050261, rs121913660, rs121913661, rs199683937, rs536758576, rs1229474296, rs1591111808, rs766830864	RCV004586617 RCV003231029 RCV003405050 RCV002468969 RCV001420935 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial complex I deficiency	Likely pathogenic; Pathogenic	rs121913659, rs121913660, rs1135402749	RCV000015100 RCV000015102 RCV000496998	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type	Likely pathogenic; Pathogenic	rs536758576	RCV004760638	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic; Pathogenic	rs1290684221, rs121913659, rs199683937, rs150966634	RCV001806398 RCV000763271 RCV000763270 RCV001004858	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 4	Pathogenic; Likely pathogenic	rs2134085151, rs1591109810, rs2134082911, rs1424452972, rs2495726355, rs921833941, rs200865872, rs750831299, rs761756462, rs2495726667, rs774471485, rs121913659, rs768050261, rs121913660, rs121913661 View all (6 more)	RCV001728100 RCV001784721 RCV001782507 RCV005050412 RCV002283876 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5	Likely pathogenic; Pathogenic	rs761756462	RCV005402013	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NDUFV1-related disorder	Likely pathogenic; Pathogenic	rs2495722896, rs2495716193, rs536758576	RCV004528672 RCV004534194 RCV004530649	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH LEUKODYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 5	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (77)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acidosis Lactic	Lactic acidosis	Pubtator	33182419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26125932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	35066432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25432440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	18989376		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	26093828		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35115484, 39873399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27711126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	36163075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	38447791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ 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
Isolated complex I deficiency	Isolated Complex I Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	11349233, 19672299, 21696386, 23266820, 23334465, 27344648, 27509854, 29976978, 30090137, 30972103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	11349233, 32871395, 33182419, 36675121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	21696386, 23266820, 29948731		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	11349233, 19672299, 21696386, 23266820, 23334465, 27344648, 27509854, 29976978, 30090137, 30972103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	11349233, 19672299, 21696386, 23266820, 23334465, 27344648, 27509854, 29976978, 30090137, 30972103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	11349233, 19672299, 21696386, 23266820, 23334465, 27344648, 27509854, 29976978, 30090137, 30972103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	11349233, 19672299, 21696386, 23266820, 23334465, 27344648, 27509854, 29976978, 30090137, 30972103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	11349233, 19672299, 21696386, 23266820, 23334465, 27344648, 27509854, 29976978, 30090137, 30972103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh syndrome with leukodystrophy	Leigh Syndrome With Leukodystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Leukodystrophy	BEFREE	23562761, 29948731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	18991197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	18989376		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	29272804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	CLINVAR_DG	10080174, 19073330, 23562761, 26345448		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	BEFREE	11349233, 23266820, 29395179, 29976978		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	11349233, 18435906, 20153825, 23631824, 29976978, 33182419	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	22644603		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	23266820, 26345448, 27604308		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	Mitochondrial Complex Deficiency	UNIPROT_DG	10080174, 11349233		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	Mitochondrial Complex Deficiency	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21978538, 23596069, 35482023	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	23596069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	9571201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	29272804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	11349233, 19672299, 21696386, 23266820, 23334465, 27344648, 27509854, 29976978, 30090137, 30972103		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23596069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17786189		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17786189		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	17786189	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	18989376		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular Diseases	BEFREE	29272804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	30671724	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1)