NDUFB11 (NADH:ubiquinone oxidoreductase subunit B11)

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

Gene

• Entrez ID: 54539
• Gene name: NADH:ubiquinone oxidoreductase subunit B11
• Gene symbol: NDUFB11
• Synonyms (NCBI Gene): CI-ESSS, ESSS, MC1DN30, NP17.3, Np15, P17.3
• Chromosome: X
• Chromosome location: Xp11.3
• Summary: The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786205225	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs876657384	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057519073	C>T	Pathogenic	Missense variant, coding sequence variant
rs1556760664	A>T	Likely-pathogenic	Missense variant, coding sequence variant, splice donor variant

miRNA Show/Hide all (29)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030059	hsa-miR-26b-5p	Microarray	19088304
MIRT037342	hsa-miR-877-5p	CLASH	23622248
MIRT1178949	hsa-miR-1909	CLIP-seq
MIRT1178950	hsa-miR-3157-5p	CLIP-seq
MIRT1178951	hsa-miR-4494	CLIP-seq
MIRT1178952	hsa-miR-4690-3p	CLIP-seq
MIRT1178953	hsa-miR-499a-5p	CLIP-seq
MIRT1178954	hsa-miR-1233	CLIP-seq
MIRT1178955	hsa-miR-1250	CLIP-seq
MIRT1178949	hsa-miR-1909	CLIP-seq
MIRT1178950	hsa-miR-3157-5p	CLIP-seq
MIRT1178956	hsa-miR-4286	CLIP-seq
MIRT1178957	hsa-miR-4323	CLIP-seq
MIRT1178951	hsa-miR-4494	CLIP-seq
MIRT1178952	hsa-miR-4690-3p	CLIP-seq
MIRT1178958	hsa-miR-4758-3p	CLIP-seq
MIRT1178953	hsa-miR-499a-5p	CLIP-seq
MIRT1178959	hsa-miR-526b	CLIP-seq
MIRT1178950	hsa-miR-3157-5p	CLIP-seq
MIRT1178952	hsa-miR-4690-3p	CLIP-seq
MIRT1178954	hsa-miR-1233	CLIP-seq
MIRT1178955	hsa-miR-1250	CLIP-seq
MIRT1178949	hsa-miR-1909	CLIP-seq
MIRT1178950	hsa-miR-3157-5p	CLIP-seq
MIRT1178956	hsa-miR-4286	CLIP-seq
MIRT1178957	hsa-miR-4323	CLIP-seq
MIRT1178952	hsa-miR-4690-3p	CLIP-seq
MIRT1178958	hsa-miR-4758-3p	CLIP-seq
MIRT1178959	hsa-miR-526b	CLIP-seq

Gene ontology (GO) Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 31206022, 32296183, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	31206022
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	TAS
GO:0009060	Process	Aerobic respiration	NAS	30030361
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, 27626371

Other IDs

• MIM: 300403
• HGNC: 20372
• e!Ensembl: ENSG00000147123

Protein

• UniProt ID: Q9NX14
• Protein name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial (Complex I-ESSS) (CI-ESSS) (NADH-ubiquinone oxidoreductase ESSS subunit) (Neuronal protein 17.3) (Np17.3) (p17.3)
• Protein function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediat
• PDB: 5XTC , 5XTD , 5XTH , 5XTI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10183	ESSS	22 → 141	ESSS subunit of NADH:ubiquinone oxidoreductase (complex I)	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MAAGLFGLSARRLLAAAATRGLPAARVRWESSFSRTVVAPSAVAGKRPPEPTTPWQEDPE
  PEDENLYEKNPDSHGYDKDPVLDVWNMRLVFFFGVSIILVLGSTFVAYLPDYRMKEWSRR
  EAERLVKYREANGLPIMESNCFDPSKIQLPEDE

• Sequence length: 153

Pathways

KEGG Pathway	Reactome Pathway
Oxidative phosphorylation	Respiratory electron transport
Metabolic pathways	Complex I biogenesis
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

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 Show/Hide Causal Diseases (7)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Histiocytoid cardiomyopathy	Pathogenic	rs786205225	RCV000240620	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Linear skin defects with multiple congenital anomalies 1	Pathogenic	rs786205225	RCV000763626	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Linear skin defects with multiple congenital anomalies 3	Pathogenic; Likely pathogenic	rs786205225, rs876657384, rs2520209894, rs1556760603, rs1057519073	RCV000170490 RCV000170491 RCV006257375 RCV003335968 RCV005044624	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial complex I deficiency, nuclear type 1	Pathogenic	rs786205225	RCV000763626	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 30	Likely pathogenic; Pathogenic	rs2520209863, rs2520209894, rs1057519073	RCV002468751 RCV005416136 RCV000412600	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NDUFB11-related disorders	Likely pathogenic	rs1556760603	RCV003397012	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2147053098	RCV001374959	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (6)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME	—	Orphanet	25772934	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	—	CTD, Disgenet CTD, Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, Disgenet	25772934, 25921236, 26741492, 27102574, 27488349, 27509854, 28050600, 30423443	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet, ClinGen	ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (102)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	27488349	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sideroblastic	Sideroblastic anemia	Pubtator	27488349	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	37642954, 37986300	Associate	★☆☆☆☆ Found in Text Mining only
Atresia of nasolacrimal duct	Atresia Of Nasolacrimal Duct	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	36675256	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	27488349	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	37642954	Associate	★☆☆☆☆ Found in Text Mining only
Colpocephaly	Colpocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of mandible	Mandibular aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of rectum	Congenital Anomaly Of Rectum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	38453051	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epispadias	Epispadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Histiocytoid Cardiomyopathy	Histiocytoid Cardiomyopathy	BEFREE	25921236, 27102574		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Histiocytoid Cardiomyopathy	Histiocytoid Cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Histiocytoid Cardiomyopathy	Histiocytoid Cardiomyopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Histiocytoid Cardiomyopathy	Histiocytoid Cardiomyopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	37642954	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	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
Kidney Diseases	Kidney disease	Pubtator	37642954	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3	Linear Skin Defects With Multiple Congenital Anomalies	GENOMICS_ENGLAND_DG	25772934		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3	Linear Skin Defects With Multiple Congenital Anomalies	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3	Linear Skin Defects With Multiple Congenital Anomalies	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Liver Diseases	Liver disease	Pubtator	37981173	Associate	★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	37642954	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmia with linear skin defects syndrome	Microphthalmia With Linear Skin Defects Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	25772934, 27102574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	ORPHANET_DG	25772934		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	GENOMICS_ENGLAND_DG	25772934		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	26741492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	36675256	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30	Mitochondrial Complex Deficiency	UNIPROT_DG	26741492		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	28506826		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36675256	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	17262856		★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	37642954	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23246602		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	17292333		★☆☆☆☆ Found in Text Mining only
Overriding aorta	Overriding aorta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovotestis	Ovotestis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	BEFREE	27102574		★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Prolapse	Tricuspid Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	37986300	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitritis	Vitritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	BEFREE	27488349		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

NDUFA8 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 10 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 6 shared evidence sourcesClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), GWAS catalog (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 10 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. NDUFB10 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 10 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 6 shared evidence sourcesClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), GWAS catalog (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 10 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. NDUFA11 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 10 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 6 shared evidence sourcesClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), GWAS catalog (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 10 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. NDUFA6 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 10 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 6 shared evidence sourcesClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), GWAS catalog (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 10 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. CYC1 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 8 shared pathwaysOxidative phosphorylation, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport 6 shared evidence sourcesClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), GWAS catalog (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 8 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
NDUFA8	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	10	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport","Complex I biogenesis"]	6	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
NDUFB10	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	10	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport","Complex I biogenesis"]	6	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
NDUFA11	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	10	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport","Complex I biogenesis"]	6	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
NDUFA6	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	10	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport","Complex I biogenesis"]	6	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
CYC1	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	8	["Oxidative phosphorylation","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport"]	6	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]

Diseases Linked via Similar Genes

Obesity Linked via 1 of 5 related genesNDUFA8 Scoliosis Linked via 1 of 5 related genesNDUFA8

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Obesity	1	["NDUFA8"]
Scoliosis	1	["NDUFA8"]