901
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|
|
AKT serine/threonine kinase 2 |
HIHGHH, PKBB, PKBBETA, PRKBB, RAC-BETA |
Curated: Lipodystrophy, Bipolar disorder, Breast neoplasms, Diabetes mellitus type 2, Partial lipodystrophy, Hypoglycemia, Nasopharyngeal carcinoma, Prostatic neoplasms, AKT2-related familial partial lipodystrophy, hypoinsulinemic hypoglycemia and body hemihypertrophy
Unreviewed: Acanthosis Nigricans, Adenocarcinoma, Age-related macular degeneration, Alzheimer disease, Anaplastic thyroid cancer, Anemia, Arteriosclerosis, Arthritis, Asthma, Astrocytoma, Ataxia Telangiectasia, Atherosclerosis, Autoimmune Diseases, B-Cell Lymphoma, Basal cell carcinoma, Benign Prostatic Hyperplasia, Benign Tumor Of Pancreas, Bipolar Disorder, Bladder carcinoma, Bladder Neoplasm, Brain Neoplasms, Breast Adenocarcinoma, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiomyopathy, Cardiovascular Diseases, Carnitine palmitoyltransferase deficiency, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Chordoma, Cognition disorder, Colon Carcinoma, Colonic disease, Colonic Neoplasms, Colorectal adenoma, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Contractural Arachnodactyly, Congenital Hemihypertrophy, Coronary Arteriosclerosis, Coronary artery disease, Crohn disease, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Dissecting Aortic Aneurysm, Down syndrome, Dyslipidemias, Ectrodactyly, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Fatty Liver, Fleck Corneal Dystrophy, Focal cortical dysplasia, Gallbladder cancer, Gallbladder neoplasm, Gastrointestinal disease, Gastrointestinal stromal tumor, Gestational Trophoblastic Neoplasms, Glioblastoma, Glioma, Glomerulosclerosis, Glucocorticoid Receptor Deficiency, Glycogen Storage Disease, Gynecomastia, Hashimoto disease, Hematologic disease, Hematopoietic Neoplasms, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Hydatidiform mole, Hyperglycemia, Hyperinsulinism, Hyperplasia, Hypertension, HYPERTRICHOSIS, Hypertriglyceridemia, Hypertrophy Of Tonsils, Hypoglycemic coma, Hypoglycemic seizures, Hypogonadism, Hypoinsulinemic Hypoglycemia And Hemihypertrophy, Insulin-resistant diabetes mellitus, Intervertebral Disk Displacement, Ketosis, Kidney Disease, Large cell carcinoma, Leiomyoma, Leukemia, liposarcoma, Liver carcinoma, Liver disease, Liver neoplasms, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lymphatic metastasis, Lymphoma, Malignant Neoplasm, Mammary Neoplasms, Marfan Syndrome, Mason type diabetes, Melanoma, Merkel cell carcinoma, Metabolic Diseases, Metabolic Syndrome, Monoclonal Gammapathies, Multiple myeloma, Myelodysplastic syndrome, Myocardial Infarction, Myocardial Ischemia, Myocarditis, Nasopharyngeal Carcinoma, Neoplasms, Neural Tube Defect, Neurilemmoma, Neuroblastoma, Neurodegenerative Disorders, Neuroendocrine Tumors, Non-Alcoholic Fatty Liver Disease, Obesity, Osteosarcoma, Ovarian cancer, Ovarian Carcinoma, Ovarian Cysts, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Papillary thyroid carcinoma, Partial Lipodystrophy, Peritonitis, Polycystic Ovary Syndrome, Polycythemia vera, Prostate cancer, Prostatic hyperplasia, Prostatic neoplasm, Prostatic Neoplasms, Pulmonary Fibrosis, Renal Carcinoma, Renal fibrosis, Rheumatoid arthritis, Sarcoma, Schizophrenia, Skin Neoplasms, Small cell carcinoma, Small cell lung carcinoma, Soft Tissue Neoplasms, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Subarachnoid hemorrhage, Syndromic microphthalmia, T-Cell Lymphoma, Thymoma, Thymus Neoplasms, Thyroid cancer, Triple Negative Breast Neoplasms, Tuberous Sclerosis, Urinary bladder cancer, Urinary bladder neoplasms, Uterine Fibroids, Uterine neoplasm, Vascular disease, Vasculitis
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902
|
|
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AKT serine/threonine kinase 3 |
MPPH, MPPH2, PKB-GAMMA, PKBG, PRKBG, RAC-PK-gamma, RAC-gamma, STK-2 |
Curated: Anorexia nervosa, Attention deficit hyperactivity disorder, Bardet-biedl syndrome, Central nervous system cancer, Glioblastoma, Glioma, Global developmental delay, Hemimegalencephaly, Insomnia, Cortical development malformation, Metabolic syndrome, Microcephaly, Myocardial infarction, Polymicrogyria, Post-traumatic stress disorder, Schizophrenia, Senior-loken syndrome, Substance abuse, Diabetes mellitus type 2, overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Unreviewed: Adenocarcinoma, Adrenoleukodystrophy, Agenesis Of Corpus Callosum, Alzheimer disease, Amyotrophic Lateral Sclerosis, Aplasia Cutis Congenita, Arteriosclerosis, Arthritis, Astrocytoma, Atherosclerosis, Autism, B-Cell Lymphoma, Brain disease, Brain malformation, Breast Cancer, Breast Carcinoma, Breast neoplasm, Burkitt lymphoma, Capillary malformation, Carcinogenesis, Carcinoma, Carotid Artery Thrombosis, Celiac disease, Central Nervous System Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital Heart Disease, Coronary Heart Disease, Cortical Dysplasia, Cutis marmorata, Dementia, Demyelinating Diseases, Development Disorder, Developmental Delay, Developmental disability, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Retinopathy, Dysmorphic Features, Dysmorphism, Endometrial carcinoma, Endometrial neoplasm, Epilepsy, Epithelial ovarian carcinoma, Esophageal neoplasm, Esophagus Neoplasm, Focal cortical dysplasia, Gastric Cancer, Gata2 deficiency, Gingival diseases, Head and neck neoplasm, Hemangioma, Hepatitis c, Hepatocellular carcinoma, Hirschsprung Disease, Hydrocephalus, Hyperinsulinism, Hypertensive nephropathy, Hypoglycemia, Hypoplasia Of Corpus Callosum, Impaired Cognition, Incontinentia Pigmenti Achromians, Infantile Spasms, Intervertebral disc displacement, Intervertebral Disk Displacement, Intrahepatic Cholangiocarcinoma, Isolated Somatotropin Deficiency, Leiomyoma, Lichen amyloidosis, Liver Cancer, Liver carcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Macrocephaly, Macular corneal dystrophy, Malformation of cortical development, Malignant Neoplasm, Mammary Neoplasms, Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome, Megalencephaly Cutis Marmorata Telangiectatica Congenita, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Meningioma, Mental retardation, Metabolic Diseases, Microstomia, Mitochondrial disease, Multiple myeloma, Myelodysplastic syndrome, Neoplasms, Nervous System Disorder, Neuroblastoma, Neuroendocrine Tumors, Obesity, Oropharyngeal neoplasm, Osteogenesis imperfecta, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Papillary thyroid cancer, Papillary thyroid carcinoma, Periventricular nodular heterotopia, Pituitary neoplasm, Polydactyly, Postaxial hand polydactyly, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Pseudohyperkalemia Cardiff, Psoriasis, Pulmonary arterial hypertension, Renal Carcinoma, Renal cell carcinoma, Respiratory Distress Syndrome, Respiratory system infectious disease, Retinitis Pigmentosa, Sarcoidosis, Seminoma, Sepsis, Small cell carcinoma, Small cell lung carcinoma, Somatotropin Deficiency, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strawberry Nevus Of Skin, Tauopathies, Testicular germ cell tumor, Thymoma, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Triple negative breast cancer, Triple Negative Breast Neoplasms, Tuberous Sclerosis, Urinary bladder neoplasms, Urologic neoplasm, Uterine Fibroids, Uterine neoplasm, Uveal Melanoma, Vascular disease, Ventricular septal defect, West Syndrome, Wilms tumor
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903
|
|
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AKT3 intronic transcript 1 |
- |
Curated: N/A
Unreviewed: N/A
|
904
|
|
|
AKT interacting protein |
FT1, FTS |
Curated: Attention deficit hyperactivity disorder, Autism, Barrett esophagus, Color vision deficiency, Esophageal disease, Gastroesophageal reflux disease, Metabolic syndrome, Rheumatic disease, Diabetes mellitus type 2
Unreviewed: Bipolar disorder, Breast neoplasm, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Childhood obesity, Diabetes Mellitus, Duchenne muscular dystrophy, Endometrial neoplasm, Liver carcinoma, Ovarian neoplasm, Squamous cell carcinoma, Syndactyly Of The Toes, Uterine neoplasm
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905
|
|
|
AKTIP pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
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906
|
|
|
AKTIP pseudogene 2 |
- |
Curated: N/A
Unreviewed: N/A
|
907
|
|
|
AKTIP pseudogene 3 |
- |
Curated: N/A
Unreviewed: N/A
|
908
|
|
|
Aminolevulinate dehydratase |
ALADH, PBGS |
Curated: Sickle cell anemia, Autism, Renal cell carcinoma, Genetic predisposition to disease, Hematologic disease, Hypertension, Kidney disease, Liver cirrhosis, Liver disease, Meningioma, Porphyria cutanea tarda, Porphyria, Prostatic neoplasms, Seizures
Unreviewed: Amnesia, Amyotrophic Lateral Sclerosis, Anemia, Anemia With Ringed Sideroblasts, Angioblastic Meningioma, Angiomatous Meningioma, Anxiety Disorder, Benign Meningioma, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cardiovascular disease, Cerebral Convexity Meningioma, Chromophobe Carcinoma, Clonic Seizures, Diabetes Mellitus, Fibrous Meningioma, Fossa Meningioma, Frontotemporal dementia, Genitourinary Cancer, Glioma, Glycogen storage disease, Hemangioblastic Meningioma, Hemangiopericytic Meningioma, Hematological Disease, Hemochromatosis, Hepatic porphyria, Hepatocellular carcinoma, Hyperglycemia, Hypothyroidism, Hypotonic seizures, Intermittent Porphyria, Intracranial Meningioma, Intracranial Neoplasm, Intraorbital Meningioma, Intraventricular Meningioma, Jacksonian Seizure, Kidney Disease, Kidney neoplasm, Liver carcinoma, Liver Cirrhosis, Liver Fibrosis, Malignant Meningioma, Malignant Neoplasm, Meningothelial Meningioma, Microcystic Meningioma, Mood disorder, Motor neuron disease, Olfactory Groove Meningioma, Panic Disorder, Papillary Meningioma, Papillary Renal Carcinoma, Parasagittal Meningioma, Parkinson disease, Pelger-Huet Anomaly, Polycythemia Vera, Polyneuropathy, Porphobilinogen Synthase Deficiency, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Psammomatous Meningioma, Psychosis, Refractory anemia, Renal Carcinoma, Respiratory Distress Syndrome, Secretory Meningioma, Seizure, Sensory neuropathy, Sphenoid Wing Meningioma, Spinal Meningioma, Transitional Meningioma, Tremor, Tyrosinemia, Urogenital neoplasm, Xanthomatous Meningioma
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909
|
|
|
5'-aminolevulinate synthase 1 |
ALAS, ALAS-H, ALAS3, ALASH, MIG4 |
Curated: Bipolar disorder, Crohn disease, Porphyria, Major depressive disorder, Neurotic disorder
Unreviewed: Adenoma, Alzheimer disease, Bipolar Disorder, Colorectal neoplasm, Congenital erythropoietic porphyria, Diabetes, Diabetes Mellitus, Endometrial neoplasm, Erythropoietic Protoporphyria, Hereditary Coproporphyria, Intermittent Porphyria, Laryngeal neoplasm, Liver failure, Melorheostosis, Neoplasms, Prostate cancer, Schizophrenia, Sideroblastic Anemia, Squamous cell carcinoma, Variegate Porphyria
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910
|
|
|
5'-aminolevulinate synthase 2 |
ALAS-E, ALASE, ANH1, ASB, SIDBA1, XLDPP, XLEPP, XLSA |
Curated: Sideroblastic anemia, Erythropoietic protoporphyria, Hemochromatosis, Insomnia, Porphyria, X-linked erythropoietic protoporphyria, X-linked sideroblastic anemia
Unreviewed: Anemia, Anemia With Ringed Sideroblasts, Ataxia, Beta thalassemia, Cardiomyopathy, Chronic obstructive pulmonary disease, Cockayne Syndrome, Cognition disorder, Congenital erythropoietic porphyria, Congestive Heart Failure, Cystathionine Beta-Synthase Deficiency Disease, Dilated cardiomyopathy, Erythroblastic Leukemia, Erythropoietic Protoporphyria, Erythropoietic Protoporphyria, X-Linked, Heart Failure, Hemoglobinopathy, Hemolytic anemia, Hepatitis c, Hereditary Hemochromatosis, Hypochromic microcytic anemia, Hypoxia, Inflammatory bowel disease, Intermittent Porphyria, Iron Overload, Ischemic myocardial dysfunction, Liver carcinoma, Liver disease, Macrocytic anemia, Mental retardation, Mental Retardation, X-Linked, Metabolic Syndrome, Mucopolysaccharidosis, Myelodysplastic Syndrome, Myeloid leukemia, Necrotizing Enterocolitis, Neurodegenerative disorder, Nonorganic Psychosis, Protoporphyria, erythropoietic, Psychosis, Pulmonary arterial hypertension, Pulmonary hypertension, Refractory anemia, Sickle cell anemia, Sideroblastic Anemia, Sideroblastic Anemia, X-Linked, Sleep Apnea, Sleep deprivation, Spinocerebellar Ataxia, Thalassemia
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