4106
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Mechanistic target of rapamycin kinase |
FRAP, FRAP1, FRAP2, RAFT1, RAPT1, SKS |
Curated: Breast neoplasms, Hepatocellular carcinoma, Non-small-cell lung carcinoma, Renal cell carcinoma, Small cell carcinoma, Cebalid syndrome, Colonic neoplasms, Diabetes mellitus type 2, Dupuytren contracture, Endocrine system disease, Focal cortical dysplasia, Glioblastoma, Hemimegalencephaly, Hepatomegaly, Hypertension, Hypertrophy, Intellectual developmental disorder, Left ventricular disease, Lymphatic metastasis, Major depressive disorder, Cortical development malformation, Mesothelioma, Depression, Neurodevelopmental disorder, Open angle glaucoma, Ovarian neoplasms, Polycystic kidney disease, Prostatic neoplasms, Pulmonary fibrosis, Schizophrenia, Intellectual disability, Urinary bladder neoplasms, Uterine neoplasms, overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Unreviewed: Acoustic Neuroma, Adenocarcinoma, Adenoid cystic carcinoma, Adenoma, Adenomatous Polyposis, Adrenal Gland Pheochromocytoma, Adrenocortical adenoma, Adrenocortical carcinoma, Adrenoleukodystrophy, Age-related macular degeneration, Agenesis Of Corpus Callosum, Aicardi syndrome, Alexander Disease, Allergic Sensitization, alpha-Thalassemia Mental Retardation Syndrome, X-Linked, Alternating exotropia, Alveolitis, Alzheimer disease, Ameloblastoma, Amnesia, Amyloidosis, Amyotrophic Lateral Sclerosis, Anal Cancer, Anaplasia, Anaplastic Lymphoma, Anaplastic thyroid cancer, Androgen insensitivity syndrome, Anemia, Angina pectoris, Angiofibroma, Angioimmunoblastic T-cell lymphoma, Angiomyolipoma Of Kidney, Anhedonia, Aniridia, Ankylosing spondylitis, Anodontia, Anorexia, Antiphospholipid Syndrome, Aortic Aneurysm, Aphasia, Aplasia Cutis Congenita, Apnea, Aqueductal Stenosis, Argininosuccinic aciduria, Arteriosclerosis, Arteriovenous malformations, Arthritis, Asthenia, Asthma, Astrocytoma, Ataxia telangiectasia, Atherosclerosis, Atopic dermatitis, Atrial fibrillation, Atrophy, Attention deficit hyperactivity disorder, Autism, Autism Spectrum Disorder, Autoimmune Diabetes, Autoimmune disease, Autoimmune Diseases, Autoimmune Lymphoproliferative Disorder, Autoimmune nervous system disorder, Autoimmune Polyendocrinopathy, Autonomic nervous system disease, B-Cell Lymphoma, Barrett esophagus, Basal cell carcinoma, Basal ganglia disease, Benign Neoplasm, Benign Neoplasm Of Bladder, Benign Prostatic Hyperplasia, Bicuspid aortic valve, Biliary tract neoplasms, Bipolar disorder, Bladder carcinoma, Bladder Neoplasm, Blindness, Blister, Bloom Syndrome, Bone disease, Bone resorption, Bowen’s disease, Brain disease, Brain malformation, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Burkitt lymphoma, Calcinosis, Cap myopathy, Capillary infantile hemangioma, Capillary malformation, Carcinogenesis, Carcinoid tumor, Carcinoma, Carcinoma Of The Head And Neck, Cardiomyopathy, Cardiovascular disease, Cardiovascular Diseases, Carney Complex, Cartilage disease, Castleman disease, Cataract, Celiac disease, Central Nervous System Lymphoma, Cerebral Infarction, Cerebral Ischemia, Cerebral palsy, Cerebrovascular Disorders, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Cholangiocarcinoma, Cholecystitis, Chondroblastoma, Chondrosarcoma, Chordoma, Chromophobe Carcinoma, Chronic disease, Chronic Obstructive Pulmonary Disease, Chronobiology disorder, Cirrhosis, Cleft palate, CNS Disorder, Cognition disorder, Cognitive disorder, Cold urticaria, Colitis, Colon Carcinoma, Colonic disease, Colonic neoplasm, Colonic Neoplasms, Colorectal adenoma, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Communicating Hydrocephalus, Congenital abnormalities, Congenital Arteriovenous Malformation, Congenital Chromosomal Disease, Congenital diaphragmatic hernia, Congenital Exomphalos, Congenital hyperinsulinism, Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, Congenital microtia, Congestive Heart Failure, Corneal dystrophy, Coronary Arteriosclerosis, Coronary artery disease, Cortical Dysplasia, Critical illness, Crohn Disease, Cryptorchidism, Cutaneous mastocytosis, Cystic Fibrosis, Cystic Kidney Disease, Delayed speech and language development, Dementia, Demyelinating diseases, Dermatitis, Dermatofibrosarcoma Protuberans, Desmoplastic small round cell tumor, Deuteranomaly, Development Disorder, Developmental Delay, Developmental disability, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 1, Diabetes mellitus, type 2, Diabetic Nephropathy, Diabetic neuropathy, Diabetic retinopathy, Diffuse Intrinsic Pontine Glioma, Diffuse Lymphoma, Diffuse mesangial sclerosis, Digestive system neoplasm, Dilated cardiomyopathy, Dolichocephaly, Down Syndrome, Dyscognitive seizures, Dyskinesia, Dyskinetic Syndrome, Dyslipidemias, Dysplastic corpus callosum, Ear Diseases, Ectrodactyly, Eczema, Embryonal Rhabdomyosarcoma, Encephalitis, Endocrine System Diseases, Endometrial Cancer, Endometrial carcinoma, Endometrial Hyperplasia, Endometrial neoplasm, Endometrial Neoplasms, Endometrioma, Endometriosis, Epidermodysplasia Verruciformis, Epidermolysis bullosa, Epilepsy, Epileptic encephalopathy, Episodic Kinesigenic Dyskinesia, Epithelial ovarian carcinoma, Esophageal Cancer, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Essential tremor, Ewing sarcoma, Exocrine pancreatic insufficiency, Expressive language delay, Facial dysmorphism, Familial cylindromatosis, Fanconi Anemia, Fatty Liver, Fibrodysplasia Ossificans Progressiva, Fibroma, Fibrous Histiocytoma, Fleck Corneal Dystrophy, Focal segmental glomerulosclerosis, Focal Seizures, Follicular Thyroid Carcinoma, Frontal bossing, Frontal fibrosing alopecia, Fuchs endothelial dystrophy, Gallbladder neoplasm, Ganglioglioma, Gastric Cancer, Gastritis, Gastroesophageal reflux disease, Gastrointestinal neoplasm, Gastrointestinal stromal tumor, Gata2 deficiency, Gaucher disease, Gestational diabetes, Giant Cell Fibroblastoma, Giant Cell Glioblastoma, Glaucoma, Glioma, Glomerulonephritis, Glomerulosclerosis, Glucocorticoid Receptor Deficiency, Glucocorticoid receptor deficiency/resistance, Glycogen storage disease, Gouty arthritis, Graft-Vs-Host Disease, Granulomatous Disease, Graves Disease, Growth disorder, Hamartoma, Hashimoto Disease, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Heart disease, Heart Diseases, Heart Failure, Hemangioma, Hemangiosarcoma, Hematologic neoplasm, Hematologic Neoplasms, Hemolytic Uremic Syndrome, Hemophagocytic Lymphohistiocytosis, Hemorrhage, Hemorrhagic stroke, Hepatoblastoma, Hepatocellular adenoma, Hereditary angioedema, Hereditary breast and ovarian cancer syndrome, Hereditary folate malabsorption, Hereditary Hemochromatosis, Hereditary Hemorrhagic Telangiectasia, Hodgkin Disease, Hodgkin Lymphoma, Huntington Disease, Hydranencephaly, Hydrocephalus, Hyperaldosteronism, Hypercholesterolemia, Hyperemia, Hyperglycemia, Hyperinsulinemic hypoglycemia, Hyperlipoproteinemia, Hyperplasia, Hypersensitivity, Hypertrophic cardiomyopathy, Hyperuricemia, Hypoglycemia, Hypopigmentation Disorder, Hypoplasia Of Corpus Callosum, Hypospadias, Hypoxia, Hypoxic-Ischemic Encephalopathy, Ichthyosis, Idiopathic pulmonary fibrosis, Iga nephropathy, Immunologic Deficiency Syndromes, Impaired Cognition, Incontinentia Pigmenti Achromians, Infantile Spasms, Inflammatory Bowel Disease, Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome, Insulinoma, Intervertebral Disc Degeneration, Intervertebral disc disease, Intervertebral Disc Disorder, Intestinal disease, Intestinal neoplasm, Intracranial aneurysm, Intraductal noninfiltrating carcinoma, Iron Overload, Ischemic Stroke, Islet Cell Tumor, Isolated focal cortical dysplasia, Kaposi Sarcoma, Kaposiform Hemangioendothelioma, Keratitis, Kidney Cancer, Kidney Disease, Kidney Failure, Kidney Neoplasm, Kidney stone, Lactose Intolerance, Large cell carcinoma, Laryngeal carcinoma, Laryngeal neoplasm, Leber hereditary optic neuropathy, Left Ventricular Hypertrophy, Leigh Syndrome, Leiomyoma, Leiomyosarcoma, LEOPARD Syndrome, Leukemia, Lhermitte-Duclos disease, Lichen planopilaris, Lichenoid Eruptions, Lip and Oral Cavity Carcinoma, Lipoma, Lipomatosis, liposarcoma, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver disease, Liver failure, Liver Fibrosis, Liver neoplasm, Liver neoplasms, Low Tension Glaucoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Diseases, Lung Neoplasms, Lupus Erythematosus, Lupus Nephritis, Lupus Vulgaris, Lymphangiomyomatosis, Lymphatic Metastasis, Lymphedema, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Lymphoma, Lymphocytic, Intermediate, Lymphoproliferative Disorder, Lymphoproliferative syndrome, Lynch syndrome, Macrocephaly, Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome, Macrostomia, Macular corneal dystrophy, Macular degeneration, Macular dystrophy, Male breast neoplasms, Malformation of cortical development, Malignant Bone Neoplasm, Malignant Histiocytoma, Malignant lymphoma, lymphocytic, intermediate differentiation, Malignant Mesothelioma, Malignant Neoplasm, Malignant neoplasm of mouth, Malignant Peripheral Nerve Sheath Tumor, Malignant Uterine Corpus Neoplasm, Malnutrition, Mammary Neoplasms, Manic Disorder, Mantle Cell Lymphoma, Marfan Syndrome, Mastocytosis, Meckel Syndrome, Medullary thyroid cancer, Medulloblastoma, Megalencephaly, Megalencephaly Cutis Marmorata Telangiectatica Congenita, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, MELAS Syndrome, Meningioma, Mental Depression, Mental Disorders, Mental retardation, Merkel cell carcinoma, Metabolic Diseases, Metabolic Syndrome, Metastatic Melanoma, Mevalonate kinase deficiency, Microcephaly, Microphthalmos, Microscopic polyangiitis, Mitochondrial disease, Mitochondrial Diseases, Mitochondrial myopathy, Monoclonal Gammapathies, Monocytic Leukemia, Motor skills disorder, Mouth disease, Mouth neoplasm, Mucoepidermoid carcinoma, Mucolipidosis, Multiple Endocrine Neoplasia, Multiple Fibrofolliculomas, Multiple myeloma, Multiple polyposis syndrome, Multiple Sclerosis, Multiple Trichoepithelioma, Myasthenia gravis, Mycosis fungoides, Myeloblastic Leukemia, Myelodysplastic syndrome, Myelofibrosis, Myeloid Leukemia, Myeloproliferative disorder, Myocardial Infarction, Myocardial Ischemia, Myoclonic Epilepsy, Myopathy, Myopia, Myotonic dystrophy, Myxoid Liposarcoma, Nasal polyp, Nasal polyposis, Nasopharyngeal Carcinoma, Necrosis, Neoplasm, Neoplasms, Nephrolithiasis, Nervous System Disorder, Neurilemmoma, Neuroblastoma, Neurocutaneous Syndromes, Neurodegenerative disorder, Neurodegenerative Disorders, Neurodevelopmental Disorders, Neuroectodermal Tumors, Neuroendocrine Tumors, Neurofibromatosis, Neurofibrosarcoma, Neuronal Heterotopia, Night blindness, congenital stationary, Non-Alcoholic Fatty Liver Disease, Non-Hodgkin lymphoma, Nonmedullary thyroid carcinoma, Obesity, Oculocerebrorenal syndrome, Oestrogen Receptor Positive Breast Cancer, Optic Disk Drusen, Optic Nerve Glioma, Oral cavity carcinoma, Oral Mucositis, Osteoarthritis, Osteoglophonic dwarfism, Osteopenia, Osteoporosis, Osteosarcoma, Ovarian adenocarcinoma, Ovarian cancer, Ovarian Cysts, Ovarian Epithelial carcinoma, Ovarian Failure, Ovarian neoplasm, Ovarian Tumor, Overgrowth Spectrum, Pachyonychia Congenita, Paget disease, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Pancreatitis, Papillary Renal Carcinoma, Papillary thyroid cancer, Papillary thyroid carcinoma, Papilloma, Paraganglioma, Parathyroid Gland Adenocarcinoma, Parathyroid neoplasm, Parkinson disease, Partial epilepsy, Pelvic organ prolapse, Penile neoplasm, Periodontitis, Peripheral nervous system disease, Perisylvian syndrome, Peritoneal Carcinomatosis, Perivascular Epithelioid Neoplasms, Peutz-Jeghers Syndrome, Pheochromocytoma, Phyllodes Tumor, Pituitary neoplasm, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, Polycystic Ovary Syndrome, Polycythemia, Polycythemia vera, Polymicrogyria, Porokeratosis, Porphyria, Prader-Willi-Like Syndrome, Premature Menopause, Primary graft dysfunction, Progeria, Progressive Supranuclear Palsy, Prolactinoma, Proliferative Vitreoretinopathy, Promyelocytic leukemia, Prostate cancer, Prostatic Hyperplasia, Prostatic neoplasm, Prostatic Neoplasms, Psoriasis, Psychiatric disorders, Psychotic disorders, PTEN Hamartoma Tumor Syndrome, Pterygium, Pulmonary arterial hypertension, Pulmonary Emphysema, Pulmonary Fibrosis, Rectal Neoplasms, Renal Carcinoma, Renal fibrosis, Renal Glomerular Disease, Renal glycosuria, Renal Insufficiency, Respiratory system infectious disease, Retinal Detachment, Retinoblastoma, Rett Syndrome, Rhabdomyoma, Rhabdomyosarcoma, Rheumatoid arthritis, Rhizomelia, Salaam Seizures, Salivary gland neoplasms, Sarcoidosis, Sarcoma, Sarcopenia, Schwannomatosis, Scleroderma, Sclerosis, Seizure, Seizures, Senile Dementia, Senile Plaques, Sepsis, Septal Hypertrophy, Septicemia, Sezary syndrome, Sjogren syndrome, Skin cancer, Skin Carcinoma, Skin disease, Skin Lesion, Skin neoplasm, Skin Neoplasms, Sleep Apnea, Sleep Disorders, Small cell lung carcinoma, SMITH-KINGSMORE SYNDROME, Somatotroph Adenoma, Specific Learning Disorder, Speech Disorders, Spinal muscular atrophy, Spinocerebellar Ataxia, Spondyloarthritis, Squamous cell carcinoma, Status Epilepticus, Steroid Sulfatase Deficiency Disease, Stomach Carcinoma, Stomach disease, Stomach Neoplasms, Stomatitis, Strabismus, Strawberry Nevus Of Skin, Stroke, Subarachnoid hemorrhage, Syndromic microphthalmia, Synovial sarcoma, Synovitis, Systemic lupus erythematosus, Systemic sclerosis, T-cell leukemia, T-Cell Lymphoma, T-Cell Lymphoma/Leukemia, Takayasu Arteritis, Tauopathies, Temporal lobe epilepsy, Tendinopathy, Teratoid Rhabdoid Tumor, Thoracic aortic aneurysm, Thoracic hypoplasia, Thrombosis, Thrombotic Microangiopathies, Thymoma, Thymus Hyperplasia, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Tongue cancer, Tongue carcinoma, Tourette syndrome, Triple negative breast cancer, Triple Negative Breast Neoplasms, Tuberous Sclerosis, Tuberous sclerosis complex, Tumor, Urinary bladder cancer, Urothelial Carcinoma, Uterine cervix neoplasm, Uterine disease, Uterine Fibroids, Uterine neoplasm, Uveal Melanoma, Varicocele, Vascular disease, Vascular Diseases, Vascular malformation, Vascular remodeling, Vasculitis, Venous insufficiency, Venous malformation, Venous thromboembolism, Vitreoretinopathy, Waldenstrom macroglobulinemia, Waldenstrom`s Macroglobulinemia, Werner Syndrome, West Syndrome, Williams syndrome, Wilms tumor, Xanthomatosis
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4110
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5-methyltetrahydrofolate-homocysteine methyltransferase |
HMAG, MS, cblG |
Curated: Autism, Bipolar disorder, Breast neoplasms, Ischemic stroke, Cleft lip, Cleft palate, Complete unilateral cleft lip, Major depressive disorder, Digestive system disease, Intracellular cobalamin metabolism disorder, Epilepsy, Gastrointestinal disease, Heart disease, Hematologic disease, Homocystinuria with megaloblastic anemia, Hyperhomocysteinemia, Hypertension, Iga nephropathy, Male infertility, Intellectual developmental disorder, Lymphoma, Malnutrition, Neural tube defect, Neural tube defects, folate-sensitive, Schizophrenia, Depression, methylcobalamin deficiency type cblG
Unreviewed: Acromegaly, Adenocarcinoma, Adenoma, Alzheimer disease, Amyotrophic Lateral Sclerosis, Anemia, Anxiety Disorder, Aortic aneurysm, Aortic dissection, Aortic Valve Insufficiency, Arakawa Syndrome, Atrial Fibrillation, Atrioventricular septal defect, Attention Deficit Hyperactivity Disorder, Autoimmune Diseases, Azoospermia, B-Cell Lymphoma, Barrett esophagus, Bipolar Disorder, Bladder carcinoma, Bladder Neoplasm, Bone Marrow Diseases, Brachydactyly, Brain atrophy, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinoma, Carcinoma Of The Head And Neck, Cardiomyopathy, Cardiovascular disease, Cardiovascular Diseases, Celiac disease, Central Nervous System Lymphoma, Cerebellar Diseases, Cerebral Atrophy, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Cobalamin deficiency, Cognition disorder, Cognitive disorder, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal adenoma, Colorectal Cancer, Colorectal neoplasm, Congenital Chromosomal Disease, Congenital contractural arachnodactyly, Congenital heart defect, Congenital heart defects, Congenital Heart Disease, Congenital heart septal defect, Conotruncal cardiac defect, Conotruncal defect, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Crohn Disease, CSF pleocytosis, Dementia, Demyelinating Diseases, Dental caries, Developmental Delay, Developmental disability, Diabetes Mellitus, Diffuse Lymphoma, Down Syndrome, Duchenne Muscular Dystrophy, Dwarfism, Dyslipidemias, Epileptic encephalopathy, Esophageal Cancer, Esophageal Carcinoma, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Folic Acid Deficiency, Functional Gastrointestinal Disorders, Gastric Cancer, Gastrointestinal Diseases, Gastrointestinal neoplasm, Gestational diabetes, Glioblastoma, Glomerulonephritis, Head and neck neoplasm, Head And Neck Neoplasms, Hearing loss, Hematological Disease, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Hereditary folate malabsorption, Hermaphroditism, Homocystinuria, Huntington Disease, Hydatidiform mole, Hydronephrosis, Hyperlipidemia, Hyperlipoproteinemia, Impaired Cognition, Inflammatory Bowel Disease, Intracranial Aneurysm, Intrinsic Factor Deficiency, Ischemic Stroke, Kidney Disease, Kidney Failure, Laryngeal cleft, Larynx cancer, Leukemia, Leukoencephalopathy, Leukoencephalopathy with vanishing white matter, Leukopenia, Lichen amyloidosis, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lupus Erythematosus, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphocytosis, Macrocytic anemia, Malabsorption Syndrome, Malignant Neoplasm, Mammary Neoplasms, Marfan Syndrome, Megaloblastic anemia, Melanoma, Meniere Disease, Meningioma, Mental Depression, Mental retardation, Methylcobalamin Deficiency, Methylmalonic acidemia, Migraine, Migraine with Aura, Mitral Valve Stenosis, Multiple myeloma, Multiple Sclerosis, Multiple Sulfatase Deficiency, Myeloid leukemia, Myocardial Infarction, Narcolepsy, Neonatal anemia, Neoplasms, Nervous System Diseases, Nervous System Disorder, Neural Tube Defect, Neuroblastoma, Neurodegenerative Disorders, Neurodevelopmental Disorders, Neuromyelitis Optica, Neutropenia, Non-Hodgkin lymphoma, Non-obstructive azoospermia, Obesity, Oligospermia, Optic Neuritis, Pancreatic cancer, Pancreatic carcinoma, Pancreatic Neoplasm, Parkinson disease, Peripheral Neuropathy, Polycystic Ovary Syndrome, Prostate cancer, Prostatic neoplasm, Pulmonary hypertension, Retinoblastoma, Rheumatoid arthritis, Schizophreniform Disorders, Scleroderma, Senile Dementia, Sepsis, Speech Disorders, Spina Bifida, Spinal Cord Diseases, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Stroke, Tarsal-Carpal Coalition Syndrome, Thrombosis, Trigeminal neuralgia, Turner Syndrome, Ulcerative colitis, Urinary bladder cancer, Urinary bladder neoplasms, Urothelial Carcinoma, Uterine disease, Uveitis, Vascular disease, Vascular Diseases, Ventricular septal defect, Vulval varices, Xanthomatosis
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