1492
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Adenine phosphoribosyltransferase |
AMP, APRTD |
Curated: 2,8-dihydroxyadenine urolithiasis, Adenine phosphoribosyltransferase deficiency, Breast neoplasms, Renal cell carcinoma, Major depressive disorder, Mucopolysaccharidosis, Depression, Urolithiasis
Unreviewed: 2,8-Dihydroxyadenine Urolithiasis, Acrodysostosis, Adenine Phosphoribosyltransferase Deficiency, Adenocarcinoma, Adenoma, Adrenal Gland Pheochromocytoma, Adrenoleukodystrophy, Adrenomyeloneuropathy, Alcoholic Fatty Liver, Alzheimer disease, Amyloidosis, Amyotrophic Lateral Sclerosis, Aortic Aneurysm, APRT Deficiency, Arteriosclerosis, Arthritis, Asthma, Astrocytoma, Atherosclerosis, Atrichia With Papular Lesions, Atrioventricular block, Attention Deficit Hyperactivity Disorder, Autism, Autoimmune Polyendocrinopathy, B-Cell Lymphoma, Barrett esophagus, Becker Muscular Dystrophy, Bile duct carcinoma, Bladder carcinoma, Bladder Neoplasm, Bloom Syndrome, Breast Cancer, Breast Carcinoma, Breast neoplasm, Brugada Syndrome, Carcinoma, Cardiomyopathy, Cardiovascular Diseases, Carney Complex, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Cholangiocarcinoma, Chondrosarcoma, Choriocarcinoma, Chromophobe Carcinoma, Colon Carcinoma, Colonic Neoplasms, Color vision deficiency, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Contractural Arachnodactyly, Congenital disorder of glycosylation, Congestive Heart Failure, Coronary Arteriosclerosis, Cushing`s Syndrome, Cyst, Cystic Fibrosis, Cystinosis, Dermatitis, Diabetes, Diabetes Mellitus, Diabetic cardiomyopathy, Diabetic Nephropathy, Diffuse Lymphoma, Duchenne Muscular Dystrophy, Endocarditis, Endometrial Cancer, Endometrial carcinoma, Epilepsy, Episodic Kinesigenic Dyskinesia, Esophageal Cancer, Esophagus Neoplasm, Fatty Liver, Fibrodysplasia Ossificans Progressiva, Fibrosarcoma, Fibrous dysplasia, Fragile X Syndrome, Fukuyama Type Congenital Muscular Dystrophy, Fulminant Hepatitis, Gallbladder cancer, GALNS Deficiency, Gerstmann-Straussler-Scheinker syndrome, Glaucoma, Glioblastoma, Glioma, Gliosarcoma, Glomerulosclerosis, Glycogen Storage Disease, Gout, Graves Disease, Head and neck cancer, Head And Neck Carcinoma, Heart Failure, Hepatocellular Carcinoma, Hereditary Breast And Ovarian Cancer Syndrome, Hereditary Motor Neuropathy, Huntington Disease, Hypercalciuria, Hypercholesterolemia, Hyperglycemia, Hyperkeratosis, Hyperlipidemia, Hyperoxaluria, Hyperparathyroidism, Hypertension, Hypertrophic cardiomyopathy, Hypocholesterolemia, Hypoglycemia, Immunologic Deficiency Syndromes, Impulse control disorder, Inborn disorder of purine or pyrimidine metabolism, Kidney Disease, Kidney Failure, Kidney Neoplasm, Kidney stone, Left Ventricular Hypertrophy, Lesch-Nyhan Syndrome, Leukemia, Leukoencephalopathy with vanishing white matter, Lip and Oral Cavity Carcinoma, Lipoatrophic Diabetes Mellitus, Lipodystrophy, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver Fibrosis, Liver neoplasms, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lupus Erythematosus, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Malignant Neoplasm, Malignant neoplasm of mouth, Mammary Neoplasms, Mantle Cell Lymphoma, Marfan Syndrome, Mason type diabetes, McCune-Albright Syndrome, Medulloblastoma, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Mental Depression, Mesothelioma, Metabolic Diseases, Metabolic Myopathy, Metabolic Syndrome, Metastatic Melanoma, Methemoglobinemia, Microphthalmos, Miscarriage, Mitochondrial Diseases, Motor Neuron Disease, Mucolipidosis, Multiple Acyl-CoA Dehydrogenase Deficiency, Multiple Endocrine Neoplasia, Multiple myeloma, Multiple Sclerosis, Muscle AMP Deaminase Deficiency, Muscular dystrophy, Myasthenia Gravis, Myocardial Diseases, Myocardial Infarction, Myocardial Ischemia, Nasopharyngeal Carcinoma, Neoplasms, Nephritis, Nephroblastoma, Nephrolithiasis, Neuroblastoma, Neuroendocrine Tumors, Neurofibromatosis, Neuromuscular Diseases, Neuropathy, Non-Alcoholic Fatty Liver Disease, Non-Hodgkin lymphoma, Obesity, Oestrogen Receptor Positive Breast Cancer, Optic Nerve Glioma, Osteosarcoma, Pachyonychia Congenita, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Papillary Renal Carcinoma, Papillary thyroid carcinoma, Parkinson disease, Periodontitis, Peutz-Jeghers Syndrome, Pheochromocytoma, Pigmented Nodular Adrenocortical Disease, Pituitary Diseases, Polycystic kidney disease, Polycystic Ovary Syndrome, Progeria, Promyelocytic Leukemia, Prostate adenocarcinoma, Prostate cancer, Prostatic Neoplasms, Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism, Pseudoxanthoma elasticum, Psoriasis, Psoriatic Arthritis, Pulmonary arterial hypertension, Pulmonary Fibrosis, Pyelonephritis, Renal Carcinoma, Renal fibrosis, Renal Insufficiency, Retinoblastoma, Rheumatoid arthritis, Schizophrenia, Septicemia, Sinus Node Dysfunction, Skin carcinoma, Stomach Carcinoma, Stomach Neoplasms, Stroke, Syndromic microphthalmia, T-Cell Lymphoma/Leukemia, Thyroid cancer, Thyroid Carcinoma, Thyroid eye disease, Thyroid Neoplasm, Triple Negative Breast Neoplasms, Tuberous Sclerosis, Urinary bladder cancer, Ventricular hypertrophy, Ventricular preexcitation, Vitamin D Deficiency, Wolff-Parkinson-White Syndrome
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1494
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Aprataxin |
AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT |
Curated: Amyotrophic lateral sclerosis, Ataxia with oculomotor apraxia, Coenzyme q10 deficiency, Ataxia with oculomotor apraxia and hypoalbuminemia, Epilepsy, Peripheral neuropathy, Schizophrenia, Spinocerebellar ataxia
Unreviewed: Amyotrophic Lateral Sclerosis, Anaplastic Astrocytoma, Anaplastic Oligoastrocytoma, Anaplastic Oligodendroglioma, Apraxia, Ataxia, Ataxia Telangiectasia, Ataxia-oculomotor apraxia, Ataxia-Telangiectasia-Like Disorder, Carcinoma, Cardiofaciocutaneous syndrome, Cerebellar Ataxia, Cerebellar atrophy, Cerebellar diseases, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Chorea, Choreoathetosis, Coenzyme Q10 Deficiency, Cognition disorder, Cognitive disorder, Dementia, Distal amyotrophy, Dysarthria, Dyskinetic Syndrome, Dystonia, Friedreich Ataxia, Huntington disease, Hypercholesterolemia, Hypoalbuminemia, Impaired Cognition, Leukemia, Lymphedema, Microcephaly And Chorioretinopathy Syndrome, Malignant Neoplasm, Marinesco-Sjogren Syndrome, Microcephaly, Mitochondrial disease, Mitochondrial Diseases, Motor nerve neuritis, Neoplasms, Nervous System Diseases, Nervous System Disorder, Neuroblastoma, Neurodegenerative disorder, Neurodegenerative Disorders, Nystagmus, Oculomotor apraxia, Oculovestibuloauditory Syndrome, Optic Atrophy, Osteosarcoma, Peripheral nervous system disease, Peripheral Neuropathy, Premature aging, Progressive External Ophthalmoplegia, Scoliosis, Seizures, Sensorimotor neuropathy, Spastic Ataxia, Spinocerebellar Ataxia, Spinocerebellar Ataxia, WITH AXONAL NEUROPATHY, Systemic lupus erythematosus
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1500
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Aquaporin 2 |
AQP-CD, NDI2, WCH-CD |
Curated: Arginine vasopressin resistance, Asthma, Cardiomyopathy, Diabetes insipidus, Neurogenic diabetes insipidus, Nephrogenic diabetes insipidus, Seasonal allergic rhinitis
Unreviewed: Acoustic Neuroma, Adrenoleukodystrophy, Allergic rhinitis, Angle closure glaucoma, Anorexia, Breast Hyperplasia, Cholestasis, Cirrhosis, Colorectal neoplasm, Congenital anomalies of the kidney and urinary tract, Congestive Heart Failure, Cystic Kidney Disease, Developmental Delay, Diabetes Insipidus, Diabetes Mellitus, Diabetic Ketoacidosis, Diabetic Nephropathy, Distal myopathy, Dwarfism, Edema, Endocrine system disease, Endometrial Cancer, Endometrial carcinoma, Endometriosis, Episodic Kinesigenic Dyskinesia, Gastrointestinal disease, Glycogen storage disease, Hearing Loss, Heart Failure, Hematologic disease, Hydronephrosis, Hypercalcemia, Hypertension, Hypertonic dehydration, Hypocalciuric Hypercalcemia, Hypocholesterolemia, Kidney Disease, Kidney Failure, Liver Cirrhosis, Liver disease, Lung neoplasms, Malignant Neoplasm, Meniere Disease, Mental retardation, Metabolic Diseases, Myocardial Diseases, Nephrogenic Diabetes Insipidus, Nephrogenic Syndrome Of Inappropriate Antidiuresis, Nephrotic Syndrome, Nocturnal enuresis, Open angle glaucoma, Otitis media, Ovarian neoplasm, Periodontitis, Polycystic kidney disease, Popliteal Pterygium Syndrome, Renal cell carcinoma, Renal fibrosis, Renal Insufficiency, Sepsis, Septicemia, Urinary tract infection, Variegate Porphyria
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