NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2)

Gene

• Entrez ID: 4720
• Gene name: NADH:ubiquinone oxidoreductase core subunit S2
• Gene symbol: NDUFS2
• Synonyms (NCBI Gene): CI-49, LHONAR2, MC1DN6
• Chromosome: 1
• Chromosome location: 1q23.3
• Summary: The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35086265	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs121434427	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121434428	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs144937332	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs150667550	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1553249704	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052485	hsa-let-7a-5p	CLASH	23622248
MIRT036624	hsa-miR-940	CLASH	23622248
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT671763	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT671762	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT671761	hsa-miR-603	HITS-CLIP	23824327
MIRT671760	hsa-miR-3941	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT646076	hsa-miR-1825	HITS-CLIP	23824327
MIRT646075	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT646074	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT646073	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT646072	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT646071	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT671763	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT671762	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT671761	hsa-miR-603	HITS-CLIP	23824327
MIRT671760	hsa-miR-3941	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT646076	hsa-miR-1825	HITS-CLIP	23824327
MIRT646075	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT646074	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT646073	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT646072	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT646071	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT1179200	hsa-miR-1237	CLIP-seq
MIRT1179201	hsa-miR-1248	CLIP-seq
MIRT1179202	hsa-miR-1268	CLIP-seq
MIRT1179203	hsa-miR-1268b	CLIP-seq
MIRT1179204	hsa-miR-145	CLIP-seq
MIRT1179205	hsa-miR-2117	CLIP-seq
MIRT1179206	hsa-miR-2355-5p	CLIP-seq
MIRT1179207	hsa-miR-3182	CLIP-seq
MIRT1179208	hsa-miR-329	CLIP-seq
MIRT1179209	hsa-miR-374a	CLIP-seq
MIRT1179210	hsa-miR-374b	CLIP-seq
MIRT1179211	hsa-miR-4273	CLIP-seq
MIRT1179212	hsa-miR-4279	CLIP-seq
MIRT1179213	hsa-miR-4696	CLIP-seq
MIRT1179214	hsa-miR-4735-5p	CLIP-seq
MIRT1179215	hsa-miR-4795-3p	CLIP-seq
MIRT1179216	hsa-miR-585	CLIP-seq
MIRT1179208	hsa-miR-329	CLIP-seq
MIRT2280957	hsa-miR-1207-5p	CLIP-seq
MIRT1179204	hsa-miR-145	CLIP-seq
MIRT2280958	hsa-miR-1909	CLIP-seq
MIRT2280959	hsa-miR-2277-3p	CLIP-seq
MIRT2280960	hsa-miR-2682	CLIP-seq
MIRT2280961	hsa-miR-3155	CLIP-seq
MIRT2280962	hsa-miR-3155b	CLIP-seq
MIRT2280963	hsa-miR-3177-5p	CLIP-seq
MIRT2280964	hsa-miR-3185	CLIP-seq
MIRT1179208	hsa-miR-329	CLIP-seq
MIRT2280965	hsa-miR-3660	CLIP-seq
MIRT2280966	hsa-miR-3915	CLIP-seq
MIRT2280967	hsa-miR-3928	CLIP-seq
MIRT1179212	hsa-miR-4279	CLIP-seq
MIRT2280968	hsa-miR-4438	CLIP-seq
MIRT2280969	hsa-miR-4480	CLIP-seq
MIRT2280970	hsa-miR-449c	CLIP-seq
MIRT2280971	hsa-miR-4525	CLIP-seq
MIRT2280972	hsa-miR-4526	CLIP-seq
MIRT2280973	hsa-miR-4763-3p	CLIP-seq
MIRT2280974	hsa-miR-484	CLIP-seq
MIRT1179208	hsa-miR-329	CLIP-seq
MIRT2280957	hsa-miR-1207-5p	CLIP-seq
MIRT1179204	hsa-miR-145	CLIP-seq
MIRT2280958	hsa-miR-1909	CLIP-seq
MIRT2280959	hsa-miR-2277-3p	CLIP-seq
MIRT2280960	hsa-miR-2682	CLIP-seq
MIRT2280961	hsa-miR-3155	CLIP-seq
MIRT2280962	hsa-miR-3155b	CLIP-seq
MIRT2280963	hsa-miR-3177-5p	CLIP-seq
MIRT2280964	hsa-miR-3185	CLIP-seq
MIRT1179208	hsa-miR-329	CLIP-seq
MIRT2280966	hsa-miR-3915	CLIP-seq
MIRT2280967	hsa-miR-3928	CLIP-seq
MIRT2280968	hsa-miR-4438	CLIP-seq
MIRT2280969	hsa-miR-4480	CLIP-seq
MIRT2280970	hsa-miR-449c	CLIP-seq
MIRT2280971	hsa-miR-4525	CLIP-seq
MIRT2280973	hsa-miR-4763-3p	CLIP-seq
MIRT2280974	hsa-miR-484	CLIP-seq
MIRT2280957	hsa-miR-1207-5p	CLIP-seq
MIRT1179204	hsa-miR-145	CLIP-seq
MIRT2280958	hsa-miR-1909	CLIP-seq
MIRT2280959	hsa-miR-2277-3p	CLIP-seq
MIRT2280960	hsa-miR-2682	CLIP-seq
MIRT2280961	hsa-miR-3155	CLIP-seq
MIRT2280962	hsa-miR-3155b	CLIP-seq
MIRT2280963	hsa-miR-3177-5p	CLIP-seq
MIRT2280964	hsa-miR-3185	CLIP-seq
MIRT1179208	hsa-miR-329	CLIP-seq
MIRT2280966	hsa-miR-3915	CLIP-seq
MIRT2280967	hsa-miR-3928	CLIP-seq
MIRT2280968	hsa-miR-4438	CLIP-seq
MIRT2280969	hsa-miR-4480	CLIP-seq
MIRT2280970	hsa-miR-449c	CLIP-seq
MIRT2280971	hsa-miR-4525	CLIP-seq
MIRT2280973	hsa-miR-4763-3p	CLIP-seq
MIRT2280974	hsa-miR-484	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003954	Function	NADH dehydrogenase activity	IMP	14749350
GO:0005515	Function	Protein binding	IPI	15250827, 19463981, 19688755, 20406883, 24089531, 24344204, 27499296, 28514442, 32807793, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	9585441
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	9647766
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IBA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IEA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IMP	30922174
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9647766, 9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	22036843, 30922174
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	28031252
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9647766, 9878551
GO:0009055	Function	Electron transfer activity	NAS	9647766
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016651	Function	Oxidoreductase activity, acting on NAD(P)H	IEA
GO:0019826	Function	Oxygen sensor activity	IEA
GO:0019826	Function	Oxygen sensor activity	IMP	30922174
GO:0022008	Process	Neurogenesis	IEA
GO:0022008	Process	Neurogenesis	ISS
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	19725078
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	ISS
GO:0042063	Process	Gliogenesis	IEA
GO:0042063	Process	Gliogenesis	ISS
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, 17209039
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	IMP	11112787, 24746669
GO:0045271	Component	Respiratory chain complex I	NAS	9878551
GO:0046872	Function	Metal ion binding	IEA
GO:0048038	Function	Quinone 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:0061351	Process	Neural precursor cell proliferation	IEA
GO:0061351	Process	Neural precursor cell proliferation	ISS
GO:0071453	Process	Cellular response to oxygen levels	IEA
GO:0071453	Process	Cellular response to oxygen levels	IMP	30922174
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 602985
• HGNC: 7708
• e!Ensembl: ENSG00000158864

Protein

• UniProt ID: O75306
• Protein name: NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial (EC 7.1.1.2) (Complex I-49kD) (CI-49kD) (NADH-ubiquinone oxidoreductase 49 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:22036843, PubMed:28031252, Pu
• PDB: 5XTB, 5XTC, 5XTD, 5XTH, 5XTI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00346	Complex1_49kDa	193 → 463	Respiratory-chain NADH dehydrogenase, 49 Kd subunit	Family

• Sequence:

  MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAH
  WKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVMELSGEMVRKCDPHIGLLHRGT
  EKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
  LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGL
  MDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQW
  DLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRVEEMRQSLRIIAQCLNKMPPGEIKVDD
  AKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAIEAPKGEFGVYLVSDGSSRPY
  RCKIKAPGFAHLAGLDKMSKGHMLADVVAIIGTQDIVFGEVDR

• Sequence length: 463

Pathways

KEGG:

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

Reactome:

Respiratory electron transport
Complex I biogenesis

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Leber optic atrophy	Likely pathogenic	rs1553249704	RCV000625868	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber-like hereditary optic neuropathy, autosomal recessive 2	Pathogenic	rs373835897	RCV003389357	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 6	Pathogenic; Likely pathogenic	rs121434428, rs121434429	RCV000007102 RCV000007103	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER HEREDITARY OPTIC NEUROPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH CARDIOMYOPATHY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH LEUKODYSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mitochondrial complex I deficiency, nuclear type 1	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL ENCEPHALOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NDUFS2-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OPTIC ATROPHY, HEREDITARY, LEBER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	-; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30885944		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35414767	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	11220739, 14729820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	14729820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	14729820	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	14729820		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	9645790		★☆☆☆☆ 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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early onset schizophrenia	Schizophrenia	BEFREE	26053550		★☆☆☆☆ 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
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	BEFREE	28476010		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated complex I deficiency	Isolated Complex I Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Leber hereditary optic neuropathy	Leber hereditary optic neuropathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	BEFREE	20819849, 22036843, 23266820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh syndrome	Pubtator	20819849, 27502960, 36675121	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	GENOMICS_ENGLAND_DG	23266820, 25655951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Leigh syndrome	Pubtator	20819849	Associate	★☆☆☆☆ Found in Text Mining only
Leigh syndrome with cardiomyopathy	Leigh Syndrome With Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome with leukodystrophy	Leigh Syndrome With Leukodystrophy	Orphanet			★★☆☆☆ 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
Lung Neoplasms	Lung neoplasms	Pubtator	30885944	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30885944		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30885944		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	14749350, 27604308		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	15576045, 22644603		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	15576045, 18435906, 20819849	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	CLINVAR_DG	20819849, 24215330		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	BEFREE	23266820		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6	Mitochondrial Complex Deficiency	UNIPROT_DG	11220739		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	28031252		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6	Mitochondrial Complex Deficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	CTD_human_DG	14729820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	14729820, 15576045	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	14729820		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	33918393, 37071596, 37734847	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	ORPHANET_DG	28031252		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	38195952	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Preexcitation Syndrome	Wolff-Parkinson-White Syndrome	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
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal telangiectasia	Retinal telangiectasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	26053550	Associate	★☆☆☆☆ Found in Text Mining only
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
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	Arthrocutaneouveal granulomatosis	BEFREE	26053550		★☆☆☆☆ Found in Text Mining only
Ventricular preexcitation	Ventricular preexcitation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only