ATP6 (mitochondrially encoded ATP synthase 6)

Gene

• Entrez ID: 4508
• Gene name: Mitochondrially encoded ATP synthase 6
• Gene symbol: ATP6
• Synonyms (NCBI Gene): ATPase6, MTATP6
• Chromosome: MT
• Chromosome location: -

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052432	hsa-let-7a-5p	CLASH	23622248
MIRT052042	hsa-let-7b-5p	CLASH	23622248
MIRT052042	hsa-let-7b-5p	CLASH	23622248
MIRT052042	hsa-let-7b-5p	CLASH	23622248
MIRT052042	hsa-let-7b-5p	CLASH	23622248
MIRT051758	hsa-let-7c-5p	CLASH	23622248
MIRT051758	hsa-let-7c-5p	CLASH	23622248
MIRT051758	hsa-let-7c-5p	CLASH	23622248
MIRT051625	hsa-let-7e-5p	CLASH	23622248
MIRT050816	hsa-miR-17-5p	CLASH	23622248
MIRT050816	hsa-miR-17-5p	CLASH	23622248
MIRT050816	hsa-miR-17-5p	CLASH	23622248
MIRT050503	hsa-miR-20a-5p	CLASH	23622248
MIRT050503	hsa-miR-20a-5p	CLASH	23622248
MIRT048900	hsa-miR-93-5p	CLASH	23622248
MIRT048206	hsa-miR-196a-5p	CLASH	23622248
MIRT047298	hsa-miR-181b-5p	CLASH	23622248
MIRT044973	hsa-miR-186-5p	CLASH	23622248
MIRT044383	hsa-miR-200c-3p	CLASH	23622248
MIRT042670	hsa-miR-196b-5p	CLASH	23622248
MIRT041175	hsa-miR-181d-5p	CLASH	23622248
MIRT039615	hsa-miR-615-3p	CLASH	23622248
MIRT038398	hsa-miR-296-3p	CLASH	23622248
MIRT038045	hsa-miR-423-5p	CLASH	23622248
MIRT038045	hsa-miR-423-5p	CLASH	23622248
MIRT037434	hsa-miR-744-5p	CLASH	23622248
MIRT037434	hsa-miR-744-5p	CLASH	23622248
MIRT037434	hsa-miR-744-5p	CLASH	23622248
MIRT035809	hsa-miR-1908-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	30318146
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IC	12110673
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	26297831
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006754	Process	ATP biosynthetic process	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0015078	Function	Proton transmembrane transporter activity	IEA
GO:0015252	Function	Proton channel activity	IDA	37244256
GO:0015986	Process	Proton motive force-driven ATP synthesis	IBA
GO:0015986	Process	Proton motive force-driven ATP synthesis	IDA	37244256
GO:0015986	Process	Proton motive force-driven ATP synthesis	IEA
GO:0015986	Process	Proton motive force-driven ATP synthesis	NAS	26297831
GO:0016020	Component	Membrane	IEA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	IDA	12110673
GO:0045259	Component	Proton-transporting ATP synthase complex	IBA
GO:0045259	Component	Proton-transporting ATP synthase complex	IDA	12110673, 37244256
GO:0045259	Component	Proton-transporting ATP synthase complex	IEA
GO:0045259	Component	Proton-transporting ATP synthase complex	NAS	26297831
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IBA
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IDA	12110673
GO:0055093	Process	Response to hyperoxia	IEA
GO:1902600	Process	Proton transmembrane transport	IDA	37244256
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 516060
• HGNC: 7414
• e!Ensembl: HGNC

Protein

• UniProt ID: P00846
• Protein name: ATP synthase F(0) complex subunit a (F-ATPase protein 6) (Proton-conducting channel, ATP synthase F(0) complex subunit a)
• Protein function: Subunit a, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the resp
• PDB: 8H9F, 8H9J, 8H9M, 8H9Q, 8H9S, 8H9T, 8H9U, 8H9V, 8KHF, 8KI3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00119	ATP-synt_A	14 → 223	ATP synthase A chain	Domain

• Sequence:

  MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTM
  HNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSK
  IKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLA
  MSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT

• Sequence length: 226

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

Formation of ATP by chemiosmotic coupling
Cristae formation

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BICUSPID AORTIC VALVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE IA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE AND BILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELAS SYNDROME	—	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
MULTIPLE SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY ATAXIA AND RETINITIS PIGMENTOSA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY, HEREDITARY, LEBER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODIC PARALYSIS WITH LATER-ONSET DISTAL MOTOR NEUROPATHY	—	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
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acidosis Lactic	Lactic acidosis	Pubtator	32931937	Associate	★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	26138249		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28328930		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	28328930	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	39192248	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	10660580, 1550128, 16402916, 17121862, 17518546, 17568559, 18055910, 18486591, 19269308, 22577227, 30425197, 31187502, 32931937, 34635923, 35159298	Associate	★☆☆☆☆ Found in Text Mining only
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET	Ataxia and polyneuropathy	UNIPROT_DG	16049925, 18055910		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET	Ataxia and polyneuropathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	24316278		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	24316278	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	22577227		★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	37373158	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	28419775	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18708297		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	18708297	Associate	★☆☆☆☆ Found in Text Mining only
Basal ganglia cysts	Basal ganglia cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	15265003	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	36292984	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25110199, 25896597, 27121313, 29414393		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25110199, 26406445, 36758048	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26406445, 36292984	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	11024191		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY	Cardiomyopathy, apical hypertrophic and neuropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carnitine Acylcarnitine Translocase Deficiency	Carnitine acetyltransferase deficiency	Pubtator	29307858	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	18055910, 22933740, 24316278, 27783406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG	22933740		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28708239		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	31119613		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft palate and bilateral cleft lip	Cleft Palate And Bilateral Cleft Lip	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	BEFREE	23631824		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27333991	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	24118886	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34176718	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	CTD_human_DG	18273840		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34002094	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	23840124	Associate	★☆☆☆☆ Found in Text Mining only
Distal Hereditary Motor Neuropathy Type II	Distal hereditary motor neuropathy	Pubtator	22933740	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	12803480		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	12803480	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	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
Epilepsy	Epilepsy	Pubtator	33476484	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	18055910	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	16620376	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	19401720, 30326913	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	30326913		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ 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
Glomerulonephritis IGA	Iga nephropathy	Pubtator	27812026, 34635923	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	32931937	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia	Hemiplegia	Pubtator	18055910	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	36758048	Associate	★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	31358833		★☆☆☆☆ Found in Text Mining only
Histiocytoid Cardiomyopathy	Histiocytoid Cardiomyopathy	CLINVAR_DG	19188198, 26803244		★☆☆☆☆ Found in Text Mining only
Holocarboxylase Synthetase Deficiency	Holocarboxylase Synthetase Deficiency	BEFREE	29307858		★☆☆☆☆ Found in Text Mining only
Horizontal pendular nystagmus	Horizontal pendular nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	18386172	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	33533264	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19401720, 25539907	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	27812026		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	36066780, 39192248, 9883875	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28412374		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34176718	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	23840124	Associate	★☆☆☆☆ Found in Text Mining only
Isolated ATP synthase deficiency	Isolated ATP Synthase Deficiency	ORPHANET_DG	28412374		★☆☆☆☆ Found in Text Mining only
Kearns-Sayre syndrome	Kearns Sayre Syndrome	BEFREE	29974349		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29778688		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	35159298	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	31187502	Associate	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	11024191, 11731285, 16217706, 17352390, 18461509, 20546952, 22348497, 22577227, 22819295, 23266623, 23631824, 24153443, 24316278, 27502083, 29116603, 29307858, 29481804, 29602698, 29929013, 30140060, 31500933, 7649544, 8078883, 8750605, 9511882		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	11024191, 11119722, 1550128, 16402916, 19269308, 19875463, 20546952, 21120938, 22348497, 22577227, 23631824, 24316278, 29116603, 29307858, 29602698, 30379275, 30425197, 31187502, 33476484, 34176718, 34635923, 34928236, 35279592, 35792828, 36675121, 7599216, 8078883	Associate	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINVAR_DG	11119722, 11245730, 11382202, 11731285, 1436530, 1550128, 16217706, 18461509, 2137962, 22789932, 23206802, 23266623, 24002810, 24118886, 7668837, 8190310, 8395787, 8554662, 8602753, 9270604, 9631394		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	LHGDN	15228605, 16217706		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	UNIPROT_DG	17352390, 8395787, 9270604, 9501263, 9556461		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	38062538	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	32602227	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	18708297	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18708297		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	25110199, 25896597, 27121313, 29414393		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18409190, 18850577, 27187822		★☆☆☆☆ Found in Text Mining only
Maternally Inherited Leigh Syndrome	Maternally Inherited Leigh Syndrome	BEFREE	17121862, 19875463, 30414414, 31276579		★☆☆☆☆ Found in Text Mining only
Maternally Inherited Leigh Syndrome	Maternally Inherited Leigh Syndrome	ORPHANET_DG	19433277		★☆☆☆☆ Found in Text Mining only
Maternally Inherited Leigh Syndrome	Maternally Inherited Leigh Syndrome	CTD_human_DG	27129022		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	17276738, 21473984, 24153443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELAS Syndrome	MELAS Syndrome	CLINVAR_DG	25037980, 27812026, 29350304		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELAS Syndrome	Melas syndrome	Pubtator	7599216	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MERRF Syndrome	MERRF Syndrome	BEFREE	21473984		★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	Myoclonic epilepsy with ragged red fibers	Pubtator	7599216	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28957804		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	32931937	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	34176718	Associate	★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial cardiomyopathy	Mitochondrial Cardiomyopathy	BEFREE	28104394		★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1	Mitochondrial Complex Deficiency	UNIPROT_DG	16049925, 18055910		★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1	Mitochondrial Complex Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	12803480, 15265003, 17518546, 18055910, 22577227, 22933740, 26448634, 27812026, 29587845, 31187502, 32931937, 34176718, 34635923, 34928236, 35159298, 40257346, 9883875	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	18055910, 19947808, 22933740, 24986921, 27502083, 30763462, 31187502, 9883875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	15265003, 7605802	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	15753359, 29908326, 30273650		★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	11024191		★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA	Mitochondrial Myopathy And Sideroblastic Anemia	BEFREE	25037980		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	27055661, 27411053	Associate	★☆☆☆☆ Found in Text Mining only
MT-ATP6-related mitochondrial spastic paraplegia	Mitochondrial Spastic Paraplegia	ORPHANET_DG	20656066		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17619138, 18708297		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	LHGDN	17619138		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	17619138, 18708297, 34002094	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	33533264	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	11024191		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy with lactic acidosis and sideroblastic anemia	Mitochondrial myopathy with sideroblastic anemia	Pubtator	25037980	Associate	★☆☆☆☆ Found in Text Mining only
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3	Myopathy, lactic acidosis, and sideroblastic anemia	UNIPROT_DG	25037980		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3	Myopathy, lactic acidosis, and sideroblastic anemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	15647368, 15753359, 18409190, 27187822, 28986220, 29414393		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	17568559, 19875463, 24118886, 31187502, 34635923, 40257346	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	16402916, 31500933		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24316278, 29307858, 34176718	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24316278, 29307858		★☆☆☆☆ Found in Text Mining only
Neuropathy ataxia and retinis pigmentosa	Neuropathy Ataxia And Retinis Pigmentosa	BEFREE	15282179, 17518546, 19124644, 19875463, 20138159, 23266623, 24118886, 27015314, 27502083, 29054413, 29224958, 30414414, 31276579, 9511882		★☆☆☆☆ Found in Text Mining only
Neuropathy ataxia and retinis pigmentosa	Neuropathy Ataxia And Retinis Pigmentosa	CLINVAR_DG	1539598, 8095070, 8190310, 8395787		★☆☆☆☆ Found in Text Mining only
Neuropathy ataxia and retinis pigmentosa	Neuropathy Ataxia And Retinis Pigmentosa	UNIPROT_DG	2137962		★☆☆☆☆ Found in Text Mining only
Neuropathy ataxia and retinis pigmentosa	Neuropathy Ataxia And Retinis Pigmentosa	CTD_human_DG	27129022		★☆☆☆☆ Found in Text Mining only
Neuropathy ataxia and retinitis pigmentosa	Neuropathy, ataxia, and retinitis pigmentosa	Pubtator	10660580, 16402916, 17568559, 18486591, 19269308, 19875463, 20138159, 20953793, 21120938, 24118886, 24316278, 30414414, 31187502, 33476484, 34635923, 39270524, 40257346, 40629055	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24788344		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24788344, 25541891, 36758048	Associate	★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	30425197, 35159298	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	19026397, 20454697, 24118886	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	17518546, 19026397, 23266623, 24118886, 31379041		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	UNIPROT_DG	7726182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	30335973		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	17276738, 22542792		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	20361200		★☆☆☆☆ Found in Text Mining only
Paresis	Paresis	Pubtator	18055910	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32337946	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pediatric Obesity	Childhood obesity	BEFREE	25541891		★☆☆☆☆ Found in Text Mining only
Periodic paralysis with later-onset distal motor neuropathy	Periodic Paralysis With Distal Motor Neuropathy	ORPHANET_DG	24153443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	22435634		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	17352390		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	22577227, 34635923	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	17352390		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	37674615	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	18055910, 34953645	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	18055910		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Preexcitation Syndrome	Wolff-Parkinson-White Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	BEFREE	27502083		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18409190, 18850577, 27187822		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21129724, 28986220	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	31358833	Associate	★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	30425197		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	30425197		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	26448634		★☆☆☆☆ 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	Pubtator	10660580, 1550128, 16402916, 17121862, 17518546, 17568559, 18486591, 19269308	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	17121862		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
RHYNS syndrome	RHYNS Syndrome	BEFREE	29054413		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	Pubtator	31273041	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	25132006		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33476484	Associate	★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	35159298	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	17518546	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	20656066		★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	22577227, 34037856	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	30425197	Associate	★☆☆☆☆ Found in Text Mining only
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)	Striatonigral Degeneration	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Striatonigral Degeneration, Infantile, Mitochondrial	Striatonigral Degeneration	UNIPROT_DG	7668837		★☆☆☆☆ Found in Text Mining only
Striatonigral Degeneration, Infantile, Mitochondrial	Striatonigral Degeneration	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	27502083		★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular preexcitation	Ventricular preexcitation	HPO_DG			★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only