2231
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ATPase H+ transporting V1 subunit H |
CGI-11, MSTP042, NBP1, SFD, SFDalpha, SFDbeta, VMA13 |
Curated: Astrocytoma, Bipolar disorder
Unreviewed: Alzheimer disease, Carcinogenesis, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Dwarfism, FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY, Neurodegenerative disorder, Neurodegenerative Disorders, Osteopenia, Osteoporosis, Renal cell carcinoma, Rheumatoid arthritis, Stroke
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2232
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ATPase copper transporting alpha |
DSMAX, HMNX, MK, MNK, SMAX3 |
Curated: Anemia, Aortic rupture, Ataxia, Au-kline syndrome, Charcot-marie-tooth disease, Colonic neoplasms, Cutis laxa, Ehlers-danlos syndrome, Growth disorder, Hemolysis, Hereditary motor and sensory neuropathies, Hirschsprung disease, Pulmonary hypertension, Distal hereditary motor neuropathy, Paralysis, Seizures, Spinal muscular atrophy, Tremor, Vascular system injury, X-linked distal spinal muscular atrophy, menkes disease
Unreviewed: Amyotrophic Lateral Sclerosis, Aortic Aneurysm, Aortic Rupture, Arteriosclerosis, Atherosclerosis, Avascular Necrosis Of The Capital Femoral Epiphysis, Bladder carcinoma, Bladder Diverticulum, Brachycephaly, Brachydactyly, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Cerebellar Diseases, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Charcot-Marie-Tooth Disease, Chondrocalcinosis, Clonic Seizures, Cognition disorder, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Congenital Exomphalos, Congenital Pectus Carinatum, Congenital Pectus Excavatum, Connective Tissue Disease, Cutis Laxa, Cutis Laxa, X-Linked, Dementia, Developmental Delay, Developmental regression, Diabetes Mellitus, Diffuse Lymphoma, Digestive system neoplasm, Distal amyotrophy, Distal myopathy, Dwarfism, Dysautonomia, Dysphagia, Ehlers-Danlos Syndrome, Epilepsy, Erythrokeratoderma, Erythrokeratodermia variabilis, Esophageal neoplasm, Esophagitis, Gastroesophageal Reflux Disease, Gastroparesis, Glioblastoma, Glioma, Hematomas, Hepatocellular carcinoma, Hepatolenticular Degeneration, Hernia, Femoral, Hiatal Hernia, High palate, Hydronephrosis, Hypersensitivity, Hypertension, Hypocupremia, Hypoglycemia, Hypopigmentation Disorder, Hypotonic seizures, Impaired Cognition, Inclusion body myopathy, Intellectual developmental disorder, Intervertebral Disc Degeneration, Intravascular Hemolysis, Jacksonian Seizure, Legg-Calve-Perthes Disease, Leukemia, Liver neoplasms, Lung carcinoma, Major depressive disorder, Malabsorption Syndrome, Malignant Neoplasm, Medulloblastoma, Melanoma, Melorheostosis, Menkes Disease, Menkes Kinky Hair Syndrome, Mental retardation, Metabolic Diseases, Microcephaly, Micrognathism, Motor nerve neuritis, Motor neuron atrophy, Motor Neuron Disease, Moyamoya Disease, Multiple myeloma, Myeloid leukemia, Myopathy, Neoplasms, Neuroblastoma, Neurodegenerative disorder, Neurodegenerative Disorders, Neurodevelopmental disorder, Neurodevelopmental Disorders, Neurogenic bladder, Neuromuscular Diseases, Neuroticism, Occipital Horn Syndrome, Osseous Ankylosis, Osteomyelitis, Osteopenia, Osteoporosis, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic neoplasm, Parkinson disease, Pelvic bone exostoses, Peripheral nervous system disease, Prostatic neoplasm, Rheumatoid arthritis, Rickets, Rubral Tremor, Sarcoma, Scoliosis, Seizure, Senile Dementia, Short clavicles, Sialic Acid Storage Disease, Sialuria, Skin abnormalities, Skin cancer, Specific Learning Disorder, Spinal Muscular Atrophy, Spinal Muscular Atrophy, X-Linked, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Stomatocytosis, Tarsal Coalition, Triple negative breast cancer, Tuberous sclerosis complex, Turner syndrome, Urothelial Carcinoma, Uterine neoplasm, Vascular disease, Venous Insufficiency
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2233
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ATPase copper transporting beta |
PWD, WC1, WD, WND |
Curated: Alzheimer disease, Anaptoglobinemia, Breast neoplasms, Carcinoma, Colorectal neoplasms, Congenital disorder of glycosylation, Deafness, Developmental and epileptic encephalopathy, Dyslexia, Fatty liver, Fatty liver, alcoholic, Hepatolenticular degeneration, Kidney neoplasms, Liver cirrhosis, Liver disease, Liver failure, Liver neoplasms, Major depressive disorder, Intellectual developmental disorder, Mouth neoplasms, Neuropathy, Optic neuritis, Ovarian neoplasms, Prostatic neoplasms, Sensory peripheral neuropathy, Spastic ataxia, Squamous cell carcinoma, Testicular disease, Depression, Wilson disease
Unreviewed: Adrenal Cortical Hypofunction, Adrenogenital Syndrome, Alpha 1-Antitrypsin Deficiency, Anaplastic Carcinoma, Anemia, Arthritis, Atrial Fibrillation, Biliary atresia, Bladder carcinoma, Bladder Neoplasm, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinoma Of The Head And Neck, Cardiac Neoplasms, Ceruloplasmin deficiency, Chondrocalcinosis, Cirrhosis, Colorectal Cancer, Colorectal Neoplasms, Complement Component Deficiency, Congenital adrenal hyperplasia, Copper overload cirrhosis, Corticobasal degeneration, Deglutition disorder, Dementia, Diabetes Insipidus, Diabetes mellitus, Dysarthria, Dyslipidemias, Dysphagia, Dystonia, Epileptic encephalopathy, Esophageal neoplasm, Esophageal varix, Essential tremor, Factor VII Deficiency, Fatty Liver, Gastrointestinal disease, Glioblastoma, Glioma, Head and neck cancer, Head And Neck Carcinoma, Heart disease, Hematologic disease, Hemochromatosis, Hemolytic anemia, Hemolytic uremic syndrome, Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatolenticular Degeneration, Hereditary Hemochromatosis, Homocystinuria, Hypersexuality, Hypocupremia, Hypoparathyroidism, Hypothyroidism, Inborn Errors Of Metabolism, Kayser-Fleischer ring, Kidney Cancer, Kidney Neoplasm, Laryngeal neoplasm, Lewy body disease, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver Fibrosis, Lung Cancer, Lung carcinoma, Lung Neoplasms, Malignant Neoplasm, Malignant neoplasm of mouth, Mammary Neoplasms, Marfan Syndrome, Menkes Kinky Hair Syndrome, Mental Depression, Mental retardation, Metabolic syndrome, Mixed demyelinating and axonal polyneuropathy, Mouth Neoplasms, Movement Disorders, Neoplasms, Nephrolithiasis, Nervous System Disorder, Niemann-Pick Disease, Obesity, Oculocutaneous albinism, Osteoarthritis, Osteoporosis, Ovarian cancer, Ovarian Carcinoma, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian neoplasm, Panhypopituitarism, Parkinson Disease, Phosphate Diabetes, Polycystic kidney disease, Prostate cancer, Prostatic Neoplasms, Renal cell carcinoma, Renal Tubular Disorder, Rickets, Secondary parkinson disease, Seizures, Senile Dementia, Stomach neoplasms, Tic Disorder, Tourette syndrome, Tremor, Triple negative breast cancer, Ulcerative colitis, Urinary bladder cancer, Uterine neoplasm, Vascular Diseases, Ventricular Systolic Dysfunction, Von Willebrand Disorder, Wilson Disease
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2234
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ATPase copper transporting beta pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
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2235
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Mitochondrially encoded ATP synthase 8 |
ATPase8, MTATP8 |
Curated: Bicuspid aortic valve, Cardiomyopathy, Cerebellar ataxia, Cleft palate and bilateral cleft lip, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Multiple sclerosis, Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Optic neuropathy, Periodic paralysis with later-onset distal motor neuropathy, Rod-cone dystrophy, Postaxial polydactyly
Unreviewed: Adenomatous Polyposis, Autoimmune Diseases, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cardiomyopathy, apical hypertrophic and neuropathy, Complete Atrioventricular Block, Diabetes Mellitus, Diabetes mellitus, type 2, Diarrhea, Distal hereditary motor neuropathy, Glaucoma, Hemiplegia/hemiparesis, Histiocytoid Cardiomyopathy, Huntington disease, Hypertension, Hypopituitarism, Intermittent Porphyria, Irritable bowel syndrome, Isolated ATP Synthase Deficiency, Kearns Sayre Syndrome, Leigh Syndrome, Leprosy, Lymphoblastic Leukemia, Male infertility, Mitochondrial Diseases, Multiple Sclerosis, Neuropathy, Neuropathy Ataxia And Retinis Pigmentosa, Optic Neuropathy, Periodic Paralysis With Distal Motor Neuropathy, Progressive External Ophthalmoplegia, Pulmonary edema, Stomach neoplasms, Stress Disorder, Trichohepatoenteric Syndrome
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2236
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- |
- |
Curated: Bicuspid aortic valve, Cardiomyopathy, Cerebellar ataxia, Cleft palate and bilateral cleft lip, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Multiple sclerosis, Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Optic neuropathy, Periodic paralysis with later-onset distal motor neuropathy, Rod-cone dystrophy, Postaxial polydactyly
Unreviewed: Adenomatous Polyposis, Autoimmune Diseases, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cardiomyopathy, apical hypertrophic and neuropathy, Complete Atrioventricular Block, Diabetes Mellitus, Diabetes mellitus, type 2, Diarrhea, Distal hereditary motor neuropathy, Glaucoma, Hemiplegia/hemiparesis, Histiocytoid Cardiomyopathy, Huntington disease, Hypertension, Hypopituitarism, Intermittent Porphyria, Irritable bowel syndrome, Isolated ATP Synthase Deficiency, Kearns Sayre Syndrome, Leigh Syndrome, Leprosy, Lymphoblastic Leukemia, Male infertility, Mitochondrial Diseases, Multiple Sclerosis, Neuropathy, Neuropathy Ataxia And Retinis Pigmentosa, Optic Neuropathy, Periodic Paralysis With Distal Motor Neuropathy, Progressive External Ophthalmoplegia, Pulmonary edema, Stomach neoplasms, Stress Disorder, Trichohepatoenteric Syndrome
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2237
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- |
- |
Curated: Bicuspid aortic valve, Cardiomyopathy, Cerebellar ataxia, Cleft palate and bilateral cleft lip, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Multiple sclerosis, Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Optic neuropathy, Periodic paralysis with later-onset distal motor neuropathy, Rod-cone dystrophy, Postaxial polydactyly
Unreviewed: Adenomatous Polyposis, Autoimmune Diseases, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cardiomyopathy, apical hypertrophic and neuropathy, Complete Atrioventricular Block, Diabetes Mellitus, Diabetes mellitus, type 2, Diarrhea, Distal hereditary motor neuropathy, Glaucoma, Hemiplegia/hemiparesis, Histiocytoid Cardiomyopathy, Huntington disease, Hypertension, Hypopituitarism, Intermittent Porphyria, Irritable bowel syndrome, Isolated ATP Synthase Deficiency, Kearns Sayre Syndrome, Leigh Syndrome, Leprosy, Lymphoblastic Leukemia, Male infertility, Mitochondrial Diseases, Multiple Sclerosis, Neuropathy, Neuropathy Ataxia And Retinis Pigmentosa, Optic Neuropathy, Periodic Paralysis With Distal Motor Neuropathy, Progressive External Ophthalmoplegia, Pulmonary edema, Stomach neoplasms, Stress Disorder, Trichohepatoenteric Syndrome
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2238
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ATPase phospholipid transporting 8A1 |
ATPASEII, ATPIA, ATPP2 |
Curated: Color vision deficiency, Schizophrenia, Diabetes mellitus type 2
Unreviewed: Angelman Syndrome, Autism, Autism Spectrum Disorder, Breast neoplasm, Cholestasis, Diabetes Mellitus, Lung carcinoma
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2239
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ATP8A1 divergent transcript |
- |
Curated: N/A
Unreviewed: N/A
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2240
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ATPase phospholipid transporting 8A2 |
ATP, ATPIB, CAMRQ4, IB, ML-1 |
Curated: Bipolar disorder, Cerebellar ataxia, impaired intellectual development, and dysequilibrium, Cerebellar ataxia, intellectual disability, and dysequilibrium, Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts, Colorectal cancer, Dysequilibrium syndrome, Eating disorder, Epilepsy, Major depressive disorder, Nonalcoholic fatty liver disease, Peripheral neuropathy, Sarcoidosis, Schizophrenia, Scoliosis, Hypertension, Diabetes mellitus type 2
Unreviewed: Anorexia, Ataxia, Atrophy Of Corpus Callosum, Brain disease, Brugada syndrome, Bulimia, Carcinogenesis, Cataract, Cerebellar ataxia, Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome, Cerebellar atrophy, Cerebellar diseases, Cerebral Atrophy, Cerebral palsy, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Chorea, Choreoathetosis, Cognition disorder, Colorectal neoplasm, Congenital hyperinsulinism, Deafness, Developmental Delay, Developmental disability, Dwarfism, Dysarthria, Dysequilibrium Syndrome, Dyskinetic Syndrome, Dystonia, Eating Disorders, Epileptic encephalopathy, Glioblastoma, Headache, Hydrocephalus, Hyperkinesia, Impaired Cognition, Intellectual developmental disorder, Leukemia, Mental retardation, Methylmalonic acidemia, Movement disorder, Movement Disorders, Nervous System Disorder, Neurodegenerative Disorders, Optic Atrophy, Pancreatic neoplasm, Retinitis pigmentosa, Seckel syndrome, Short qt syndrome, Sialidosis, Strabismus, Thrombosis
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