2034
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ATM serine/threonine kinase |
AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1 |
Curated: Ataxia telangiectasia, B-cell chronic lymphocytic leukemia, Skin neoplasms, Breast neoplasms, Adenoid cystic carcinoma, Hepatocellular carcinoma, Squamous cell carcinoma, Cardiac valvular dysplasia, Dilated cardiomyopathy, Cataract, Cerebellar ataxia, Chromosome 17q21.31 deletion syndrome, Clonal hematopoiesis, Lynch syndrome, Conjunctival telangiectasis, Melanoma, Breast cancer, Colorectal cancer, Prostate cancer, Gastric cancer, Hereditary breast and ovarian cancer syndrome, Hereditary breast cancer, Kidney cancer, Alzheimer disease, Lymphocytic b-cell leukemia, Liver cirrhosis, Lung cancer, Melanocytic nevus, Myeloproliferative disorder, Myocardial infarction, Pancreatic neoplasms, Parkinson disease, Prostatic neoplasms, Sarcoma, Schizophrenia, Senile cataract, Stomach neoplasms, Urinary bladder neoplasms, Uterine fibroid, Ventricular dysfunction, ATM-related cancer predisposition
Unreviewed: 22q13 monosomy syndrome, Acute Myeloid Leukemia, Adenocarcinoma, Adenoma, Adrenal neoplasia, Adrenocortical adenoma, Adrenocortical carcinoma, Agammaglobulinemia, Age-related macular degeneration, Agenesis Of Corpus Callosum, Alcoholic hepatitis, Amyotrophic Lateral Sclerosis, Anaplastic thyroid cancer, Anemia, Aneuploidy, Anodontia, Anophthalmia, Anorexia, Anxiety Disorder, Aortic Aneurysm, Aplasia Cutis Congenita, Arteriosclerosis, Arthritis, Asthma, Astrocytoma, Ataxia, Ataxia Telangiectasia, Ataxia-oculomotor apraxia, Ataxia-Telangiectasia Syndrome, Ataxia-Telangiectasia-Like Disorder, Atherosclerosis, Atrial Fibrillation, Attention Deficit Hyperactivity Disorder, Autoimmune disease, Azoospermia, B-Cell Lymphoma, Barrett esophagus, Basal cell carcinoma, Benign Neoplasm, Benign Neoplasm Of Bladder, Benign Neoplasm Of Stomach, Benign Prostatic Hyperplasia, Bestrophinopathy, Biliary Cirrhosis, Biliary Tract Cancer, Biliary tract neoplasms, Bladder carcinoma, Bladder Neoplasm, Blast phase chronic myelogenous leukemia, Bloom Syndrome, Bohring syndrome, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast Carcinoma, male, Breast fibrocystic disease, Breast neoplasm, Bronchiectasis, Bronchitis, Burkitt lymphoma, Burkitt`s Lymphoma, Cafe-au-lait spot, Calcinosis, Cancer, Cap myopathy, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Carcinoma in situ, Cardiomyopathy, Cardiovascular disease, Cardiovascular Diseases, Cerebellar Ataxia, Cerebellar atrophy, Cerebellar Diseases, Cerebral Infarction, Cerebral Ischemia, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Cholangiocarcinoma, Cholangitis, Chondrosarcoma, Chordoma, Choreoathetosis, Chromosomal instability, Chronic disease, Chronic obstructive pulmonary disease, Chronobiology disorder, Cirrhosis, Classical Hodgkin lymphoma, Coffin-Siris Syndrome, Cognition disorder, Colitis, Colon Carcinoma, Colonic disease, Colonic neoplasm, Colonic Neoplasms, Colorectal adenoma, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Common variable immunodeficiency, Congenital alveolar dysplasia, Congenital Chromosomal Disease, Congenital Hypoplasia Of Thymus, Congenital Posterior Urethral Valves, Congestive Heart Failure, Conjunctival Telangiectasis, Conn Adenoma, Conn Syndrome, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Coronary Stenosis, Coronary Syndrome, Craniopharyngioma, Cyclic neutropenia, Dementia, Dermatitis, Deuteranomaly, Developmental disability, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Nephropathy, Diabetic Retinopathy, Diffuse Lymphoma, Digestive system neoplasm, Disorder Of Eye, Ductal carcinoma, Ductal carcinoma of breast, Dwarfism, Dysarthria, Dystonia, Dystonia musculorum deformans, Embryonal carcinoma, Emphysema, Endometrial Cancer, Endometrial carcinoma, Endometrial Hyperplasia, Endometrial neoplasm, Endometrial Neoplasms, Endometrioid carcinoma, Endometriosis, Epilepsy, Epithelial ovarian carcinoma, Erectile Dysfunction, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Exudative retinopathy, Fallopian Tube Carcinoma, Fanconi Anemia, Fatty liver, Female Hypogonadism Syndrome, Fibrodysplasia Ossificans Progressiva, Fibrosarcoma, Follicular Thyroid Carcinoma, Gallbladder neoplasm, Gastric Cancer, Gastric lymphoma, Gastrointestinal disease, Gastrointestinal stromal tumor, Glioblastoma, Glioma, Gliosarcoma, Glomerulonephritis, Graft-versus-host disease, Granulomatous Slack Skin, Growth disorder, Hairy Cell Leukemia, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Heart disease, Heart Failure, Hematologic disease, Hematologic Neoplasms, Hepatitis b, Hepatitis c, Hepatoblastoma, Hepatolenticular degeneration, Hereditary Breast And Ovarian Cancer Syndrome, Hereditary cancer, Hereditary Cancer Syndrome, Hereditary Hemorrhagic Telangiectasia, Hereditary nonpolyposis colorectal cancer, Hodgkin Disease, Hodgkin Lymphoma, Huntington Disease, Hyperglycemia, Hyperhomocysteinemia, Hyperoxia, Hypersensitivity, Hypertension, Hypertrophic cardiomyopathy, Hypertrophy, Hypogammaglobulinemia, Hypothyroidism, Hypoxia, Immune system disease, Immune System Diseases, immunodeficiency, Immunologic Deficiency Syndromes, Impaired Cognition, Intellectual developmental disorder, Intracranial Meningioma, Intraductal noninfiltrating carcinoma, Invasive Duct and Lobular Carcinoma, Ischemic Stroke, Islet Cell Tumor, Kaposi Sarcoma, Keratoconus, Kidney Disease, Kidney Failure, Kidney Neoplasm, Language development disorders, Language Disorders, Laryngitis, Learning disorders, Left Ventricular Hypertrophy, Leiomyosarcoma, Leishmaniasis, Leukemia, Leukoplakia, Li-Fraumeni Syndrome, Lip and Oral Cavity Carcinoma, Lipoma, Liver Cancer, Liver carcinoma, Liver disease, Liver failure, Liver Fibrosis, Liver neoplasms, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Diseases, Lung Neoplasms, Lupus Erythematosus, Lupus nephritis, Lymphatic metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoid leukemia, Lymphoma, Lymphopenia, Lymphoproliferative Disorder, Lymphoproliferative syndrome, Lynch Syndrome, Machado-Joseph Disease, Male breast neoplasms, Malignant gastrointestinal tract tumors, Malignant Hypertension, Malignant lymphoma, lymphocytic, intermediate differentiation, Malignant melanoma of skin, Malignant Neoplasm, Malignant neoplasm of mouth, Malignant Neoplasm Of Testis, Malignant Pharyngeal Neoplasm, Malignant testicular germ cell tumor, Mammary Neoplasms, Mantle Cell Lymphoma, Marfan Syndrome, Mason type diabetes, Mediastinal Tumor, Medulloblastoma, Megakaryocytic Leukemia, Meningioma, Mental Depression, Mental retardation, Merkel cell carcinoma, Mesothelioma, Metabolic Syndrome, Metastatic Prostate Carcinoma, Microcephaly, Miller Dieker Syndrome, Mitochondrial disease, Mixed Phenotype Leukemia, MOHR-TRANEBJAERG SYNDROME, Monocytic Leukemia, Mouth disease, Mouth neoplasm, Movement disorder, Movement Disorders, Mucosa-associated lymphoma, Multiple myeloma, Multiple polyposis syndrome, Multiple Sclerosis, Multiple system atrophy, Multiple Trichoepithelioma, Myelodysplastic Syndrome, Myeloid Leukemia, Myelomonocytic Leukemia, Myocardial Infarction, Myocardial Ischemia, Myotonic dystrophy, Nasopharyngeal Carcinoma, Necrosis, Neoplasms, Nervous System Disorder, Neural tube defect, Neuroblastoma, Neurodegenerative disorder, Neurodegenerative Disorders, Neuroendocrine Tumors, Neurofibroma, Neurofibromatosis, Neuropathy, Neuropathy Ataxia And Retinis Pigmentosa, Niemann-Pick Disease, Nijmegen Breakage Syndrome, Non-alcoholic Fatty Liver Disease, Non-Hodgkin lymphoma, Nonmedullary thyroid carcinoma, Nonobstructive azoospermia, Nystagmus, Obesity, Oculomotor apraxia, Oestrogen Receptor Positive Breast Cancer, Oligodendroglioma, Oral cavity carcinoma, Osteoma, Osteopenia, Osteoporosis, Osteosarcoma, Ovarian cancer, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Pancreatitis, Pancytopenia, Papillary thyroid cancer, Papillary thyroid carcinoma, Paraganglioma, Patent ductus arteriosus, Periodontitis, Peripheral Schwannoma, Peritoneal Fibrosis, Peritoneal mesothelioma, Peritonitis, Plexiform leiomyoma, Plexiform neurofibroma, Polycystic kidney disease, Polycystic Ovary Syndrome, Polycythemia vera, Polyp Of Large Intestine, Premature aging, Progeria, Prostate adenocarcinoma, Prostate Cancer, Hereditary, Prostatic neoplasm, Prostatic Neoplasms, Pseudohyperkalemia Cardiff, Pulmonary arterial hypertension, Rectal Carcinoma, Renal Carcinoma, Renal cell carcinoma, Renal fibrosis, Respiratory system infectious disease, Retinoblastoma, Rhabdomyosarcoma, Rheumatoid arthritis, Rigidity And Multifocal Seizure Syndrome, Rothmund-Thomson Syndrome, Scleroderma, Seckel Syndrome, Selective immunoglobulin a deficiency, Senile Dementia, Senile Plaques, Sepsis, Severe combined immunodeficiency, Severe combined immunodeficiency disease, Sezary Syndrome, Shwachman Syndrome, Sinusitis, Skin disease, Skin Erosion, Skin neoplasm, Sleep Apnea, Sleep deprivation, Small cell carcinoma, Small cell lung carcinoma, Spinocerebellar ataxia, ST Segment Elevation Myocardial Infarction, Stomach Carcinoma, Stomach disease, Stomach Neoplasms, Strabismus, Stroke, Syndromic microphthalmia, Systemic lupus erythematosus, Systemic sclerosis, T-cell leukemia, T-Cell Lymphoma, T-Cell Lymphoma/Leukemia, T-Cell Prolymphocytic Leukemia, Teratoid Rhabdoid Tumor, Teratoma, Thrombosis, Thymoma, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Tongue carcinoma, Tremor, Trichohepatoenteric Syndrome, Triple negative breast cancer, Triple Negative Breast Neoplasms, Tropical spastic paraparesis, Tuberous Sclerosis, Turcot syndrome, Urinary bladder cancer, Urothelial Carcinoma, Usher syndrome, Uterine disease, Uterine Fibroids, Uterine neoplasm, Uterine polyp, Uveal Melanoma, Ventricular arrhythmia, Ventricular Failure, Vesicoureteral Reflux, Waldenstrom macroglobulinemia, Werner Syndrome, Xeroderma Pigmentosum, Young syndrome, Zellweger Syndrome
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2038
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Atrophin 1 |
B37, CHEDDA, D12S755E, DRPLA, HRS, NOD |
Curated: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, Dentatorubral pallidoluysian atrophy, Schizophrenia, X-linked hydrocephalus syndrome
Unreviewed: 11p11.2 Deletion Syndrome, Action Myoclonus-Renal Failure Syndrome, Acute Myeloid Leukemia, Adenocarcinoma, Adrenoleukodystrophy, Aggressive Periodontitis, Allergic rhinitis, Alveolar Sarcoma, Alzheimer disease, Anemia, Ankylosing Spondylitis, Antisocial Personality Disorder, Aphthous Ulcer, Arteriosclerosis, Arthritis, Asthma, Astrocytoma, Atherosclerosis, Atrial Fibrillation, Autoimmune Diabetes, Autoimmune Diseases, Autoimmune hepatitis, Autoimmune Thyroiditis, B-Cell Lymphoma, Benign Myoclonic Epilepsy, Biliary Cirrhosis, Bladder carcinoma, Bladder Neoplasm, Blau syndrome, Blepharospasm, Bone Disease, Bone neoplasms, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Brugada Syndrome, Burkitt`s Lymphoma, C3 Deficiency, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Carcinosarcoma, Cardiomyopathy, Cardiovascular Abnormalities, Central Visual Impairment, Cerebellar Ataxia, Cerebral Atrophy, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Charge syndrome, Cholesteatoma, Choreoathetosis, Chronic obstructive pulmonary disease, CNS Disorder, Cognition disorder, Colitis, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal Neoplasms, Combined Immunodeficiency, X-Linked, Complete Atrioventricular Block, Congenital Epicanthus, Congenital heart defect, Congenital Long QT Syndrome, Crohn Disease, Cryopyrin-Associated Periodic Syndromes, Cryptorchidism, Cystic Fibrosis, Dementia, Dentatorubral Pallidoluysian Atrophy, Developmental and epileptic encephalopathy, Developmental Delay, Developmental disability, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Nephropathy, Diffuse Lymphoma, Down Syndrome, Dysarthria, Dysphagia, DYSTROPHIC EPIDERMOLYSIS BULLOSA, Encephalitis, Endometrial Cancer, Endometrial carcinoma, Epilepsy, Esophageal Cancer, Esophageal Carcinoma, Esophagus Neoplasm, Fatty Liver, Friedreich Ataxia, Gastritis, Gastroesophageal Reflux Disease, Glioblastoma, Glioma, Glomerulonephritis, Graft-Vs-Host Disease, Granulomatous Disease, Graves Disease, Hashimoto Disease, Hearing Loss, Heart Septal Defects, Hematologic Neoplasms, Hematopoietic Neoplasms, Hepatorenal Syndrome, Hodgkin Disease, Hodgkin Lymphoma, Holt-Oram Syndrome, Huntington Disease, Huntington Disease-Like, Hyperglycemia, Hyperinsulinism, Hyperuricemia, Hypoplasia Of Corpus Callosum, Immunodeficiency, Immunologic Deficiency Syndromes, Inclusion-Body Disease, Inflammatory Bowel Disease, Intellectual developmental disorder, Intestinal Diseases, Kaposi Sarcoma, Keratoconjunctivitis Sicca, Kidney Disease, Kidney Failure, Leigh Syndrome, Leiomyoma, Leiomyosarcoma Of Uterus, Leukemia, Leukodystrophy, Liver carcinoma, Liver Cirrhosis, Liver disease, Liver Fibrosis, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lupus Erythematosus, Lupus Nephritis, Lupus Vulgaris, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoid leukemia, Lymphoma, Lymphopenia, Lymphoproliferative Disorder, Machado-Joseph Disease, Malignant lymphoma, lymphocytic, intermediate differentiation, Malignant Neoplasm, Malignant Neoplasm Of Testis, Mammary Neoplasms, Mantle Cell Lymphoma, May-White Syndrome, Melanoma, Mental Depression, Mental retardation, Merkel cell carcinoma, Metabolic Diseases, Microcephaly, Monocytic Leukemia, Muckle-Wells Syndrome, Mucopolysaccharidosis, Multicystic renal dysplasia, Multiple myeloma, Multiple Sclerosis, Multiple Trichoepithelioma, Myasthenia Gravis, MYD88 Deficiency, Myelodysplastic Syndrome, Myelofibrosis, Myeloid Leukemia, Myelomonocytic Leukemia, Myeloproliferative disorder, Myocardial Infarction, Myocarditis, Myoclonic Epilepsy, Myositis, Myotonic dystrophy, Nasopharyngeal Carcinoma, Neoplasms, Nephritis, Nephroblastoma, Neurilemmoma, Neuroblastoma, Neurodegenerative Disorders, Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart, Neuroferritinopathy, Neurofibromatosis, Neurological, Cutaneous And Articular Syndrome, Non-Alcoholic Fatty Liver Disease, Nuchal Bleb, Nystagmus, Obesity, Oligodendroglioma, Orofaciodigital syndrome, Osteosarcoma, Otitis media, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian Failure, Ovarian neoplasm, Pachyonychia Congenita, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic Neoplasm, Pancreatitis, Parkinson disease, Peeling Skin Syndrome, Periodontitis, Peritoneal Carcinomatosis, Peritoneal Fibrosis, Pleuropulmonary blastoma, Polyarthritis, Polycystic kidney disease, Polycystic Ovary Syndrome, Polycythemia Vera, Polymicrogyria, Posteriorly Rotated Ear, Promyelocytic Leukemia, Prostate cancer, Prostatic Neoplasms, Psoriasis, Psoriatic Arthritis, Renal Carcinoma, Renal fibrosis, Renal Insufficiency, Renal tubular necrosis, Retinitis Pigmentosa, Rheumatoid arthritis, Sarcoma, Schwartz-Jampel Syndrome, Scleroderma, Scoliosis, Seizures, Senile Dementia, Severe combined immunodeficiency disease, Sex Differentiation Disorders, Spinocerebellar Ataxia, Stomach Carcinoma, Stomach Neoplasms, Syndromic microphthalmia, T-cell leukemia, T-Cell Lymphoma/Leukemia, Teratoma, Thyroid hemiagenesis, Thyroiditis, Triple Negative Breast Neoplasms, Ulcerative colitis, Urinary bladder cancer, Uterine Fibroids, Uveal Melanoma, Uveitis, Vascular Diseases, Vasculitis, Ventricular septal defect, Vitiligo, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS
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