ATP6 (-)

Gene

• Entrez ID: 6775074
• Gene name: -
• Gene symbol: ATP6
• Synonyms (NCBI Gene): -
• Chromosome: MT
• Chromosome location: -

Other IDs

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

Interactions View interactions

Associated diseases

Evidence Score:

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

Unknown / Other Associations
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	Relationship Type	References	Evidence Score
Acidosis Lactic	Associate	32931937	★☆☆☆☆ Found in Text Mining only
Adenoma Oxyphilic	Associate	12000737	★☆☆☆☆ Found in Text Mining only
Adenoma Villous	Associate	20929553	★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Associate	20929553	★☆☆☆☆ Found in Text Mining only
Alcoholic Neuropathy	Associate	22933740	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Associate	28328930	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Associate	39192248	★☆☆☆☆ Found in Text Mining only
Ataxia	Associate	10660580, 1550128, 16402916, 17121862, 17518546, 17568559, 18055910, 18486591, 19269308, 22577227, 30425197, 31187502, 32931937, 34635923, 35159298	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Associate	24316278	★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Associate	37373158	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Associate	28419775	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Associate	18708297	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Associate	15265003	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Associate	36292984	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	25110199, 26406445, 36758048	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	26406445, 36292984	★☆☆☆☆ Found in Text Mining only
Carnitine Acylcarnitine Translocase Deficiency	Associate	29307858	★☆☆☆☆ Found in Text Mining only
Charcot Marie Tooth Disease	Associate	22933740, 24316278, 38549004	★☆☆☆☆ Found in Text Mining only
Charcot Marie Tooth disease Type 2B	Associate	18055910	★☆☆☆☆ Found in Text Mining only
Charcot Marie Tooth disease X linked recessive 2	Associate	22933740	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	27333991	★☆☆☆☆ Found in Text Mining only
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	14585098	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Associate	24118886	★☆☆☆☆ Found in Text Mining only
COVID 19	Associate	39549291	★☆☆☆☆ Found in Text Mining only
Cysts	Associate	37674615	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Associate	34176718	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	34002094	★☆☆☆☆ Found in Text Mining only
Diarrhea	Associate	23840124	★☆☆☆☆ Found in Text Mining only
Distal Hereditary Motor Neuropathy Type II	Associate	22933740	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Associate	12803480	★☆☆☆☆ Found in Text Mining only
Epilepsy	Associate	33476484	★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Associate	18055910	★☆☆☆☆ Found in Text Mining only
Episodic Muscle Weakness X Linked	Associate	34953645	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Associate	16620376	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Associate	19401720, 30326913	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Associate	27812026, 34635923	★☆☆☆☆ Found in Text Mining only
HAIR AN syndrome	Associate	32601317	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Associate	32931937	★☆☆☆☆ Found in Text Mining only
Hemiplegia	Associate	18055910	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Associate	36758048	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Associate	18386172	★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Associate	33533264	★☆☆☆☆ Found in Text Mining only
Hypertension	Associate	19401720, 25539907	★☆☆☆☆ Found in Text Mining only
Hypertensive Retinopathy	Associate	26448634	★☆☆☆☆ Found in Text Mining only
Hyperventilation	Associate	29116603	★☆☆☆☆ Found in Text Mining only
Infertility Male	Associate	36066780, 39192248, 9883875	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Associate	34176718	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Associate	23840124	★☆☆☆☆ Found in Text Mining only
Kashin Beck Disease	Associate	34045450	★☆☆☆☆ Found in Text Mining only
Lactation Disorders	Associate	7605802	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Associate	35159298	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Associate	31187502	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Associate	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	★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Associate	25037980, 32931937	★☆☆☆☆ Found in Text Mining only
Leprosy	Associate	38062538	★☆☆☆☆ Found in Text Mining only
Leprosy Tuberculoid	Associate	28132834	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Associate	32602227	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Associate	18708297	★☆☆☆☆ Found in Text Mining only
Maternally Inherited Leigh Syndrome	Associate	17121862, 19875463, 24118886, 29602698, 30414414, 33476484, 35279592, 36669241, 39270524	★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Associate	7599216	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Disorders	Associate	26011537	★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	Associate	7599216	★☆☆☆☆ Found in Text Mining only
Microcephaly	Associate	32931937	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Associate	34176718	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Associate	12803480, 15265003, 17518546, 18055910, 22577227, 22933740, 26448634, 27812026, 29587845, 31187502, 32931937, 34176718, 34635923, 34928236, 35159298, 40257346, 9883875	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Associate	15265003, 7605802	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Associate	27055661, 27411053	★☆☆☆☆ Found in Text Mining only
Multiple Carboxylase Deficiency	Associate	29307858	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Associate	17619138, 18708297, 34002094	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle Weakness	Associate	10660580, 17518546, 19269308, 20138159, 30425197	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Associate	33533264	★☆☆☆☆ Found in Text Mining only
Myopathy with lactic acidosis and sideroblastic anemia	Associate	25037980	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	16620376, 27411053, 28986220	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Associate	17568559, 19875463, 24118886, 31187502, 34635923, 40257346	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Associate	24316278, 29307858, 34176718	★☆☆☆☆ Found in Text Mining only
Neurologic Manifestations	Associate	10403398, 16402916, 20056103	★☆☆☆☆ Found in Text Mining only
Neuropathy ataxia and retinitis pigmentosa	Associate	10660580, 16402916, 17568559, 18486591, 19269308, 19875463, 20138159, 20953793, 21120938, 24118886, 24316278, 30414414, 31187502, 33476484, 34635923, 39270524, 40257346, 40629055	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Associate	24788344, 25541891, 36758048	★☆☆☆☆ Found in Text Mining only
Obsessive Compulsive Disorder	Associate	34176718	★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Associate	30425197, 35159298	★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Associate	19026397, 20454697, 24118886	★☆☆☆☆ Found in Text Mining only
Paresis	Associate	18055910	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Associate	32337946	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Associate	22577227, 34635923	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Associate	37674615	★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Associate	18055910, 34953645	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	21129724, 28986220	★☆☆☆☆ Found in Text Mining only
Protein Energy Malnutrition	Associate	17568559	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Associate	31358833	★☆☆☆☆ Found in Text Mining only
Respiratory Insufficiency	Associate	30425197	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Associate	10660580, 1550128, 16402916, 17121862, 17518546, 17568559, 18486591, 19269308	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Associate	31273041	★☆☆☆☆ Found in Text Mining only
Seizures	Associate	33476484	★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy with ataxia autosomal dominant	Associate	34953645	★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Associate	35159298	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Associate	17518546	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Associate	22577227, 34037856	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Degenerations	Associate	34037856	★☆☆☆☆ Found in Text Mining only
Strabismus	Associate	30425197	★☆☆☆☆ Found in Text Mining only
Striatonigral degeneration infantile	Associate	24118886	★☆☆☆☆ Found in Text Mining only
Tuberculosis Extrapulmonary	Stimulate	31273041	★☆☆☆☆ Found in Text Mining only