73
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Isocitrate dehydrogenase (NADP(+)) 2 |
D2HGA2, ICD-M, IDH, IDH-2, IDHM, IDP, IDPM, mNADP-IDH |
Curated: Anaplastic astrocytoma, Anaplastic oligoastrocytoma, Anaplastic oligodendroglioma, Cardiomegaly, Cardiomyopathy, Central nervous system disease, Cholangiocarcinoma, Chordoma, Combined d-2- and l-2-hydroxyglutaric aciduria, Craniofacial abnormalities, D-2-hydroxyglutaric aciduria, Desbuquois syndrome, Gemistocytic astrocytoma, Gout, Growth disorder, Hydronephrosis, Hypertrophic cardiomyopathy, Kidney failure, Myeloid leukemia, Promyelocytic leukemia, Maffucci syndrome, Mitochondrial disease, Oligodendroglioma, Osteoarthritis, Osteoporosis, Seizures, Ventricular dysfunction
Unreviewed: Acute Myeloid Leukemia, Adenocarcinoma, Adrenal Gland Pheochromocytoma, alpha-Thalassemia Mental Retardation Syndrome, X-Linked, Alternating hemiplegia of childhood, Anaplastic Astrocytoma, Anaplastic Oligoastrocytoma, Anaplastic Oligodendroglioma, Anaplastic thyroid cancer, Anemia, Angioedema, Angioimmunoblastic T-cell lymphoma, Angioma, Aortic Valve Insufficiency, Arteriosclerosis, Arthritis, Astrocytoma, Ataxia telangiectasia, Atherosclerosis, Atrophy, B-Cell Lymphoma, Behcet disease, Bile duct carcinoma, Bile duct neoplasms, Biliary Tract Cancer, Biliary Tract Neoplasm, Biliary tract neoplasms, Bipolar Disorder, Blast phase chronic myelogenous leukemia, Body weight, Bone neoplasms, Brain Neoplasms, Brain Stem Glioma, Breast Cancer, Breast Carcinoma, Breast neoplasm, Burkitt`s Lymphoma, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiovascular disease, Cardiovascular Diseases, Cartilage disease, Central nervous system neoplasm, Central Nervous System Neoplasms, Cerebral palsy, Chediak-Higashi Syndrome, Chondroblastoma, Chondroma, Chondrosarcoma, Chorioangioma, Chromosome 5q deletion syndrome, Chronic obstructive pulmonary disease, Clonic Seizures, CNS Disorder, Colitis, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Chromosomal Disease, Congenital Contractural Arachnodactyly, Coronary artery disease, Cranial Nerve Paralysis, Cyclic neutropenia, Dementia, Demyelinating neuropathy, Developmental Delay, Diffuse Lymphoma, Dilated cardiomyopathy, Disorders of sex development, Ductal carcinoma, Dwarfism, Dyschondroplasias, Dyslipidemias, Dysphagia, Enchondroma, Enchondromatosis, Ependymoma, Epilepsy, Epithelioid hemangioma, Erythroblastic Leukemia, Esophageal neoplasm, Esophagus Neoplasm, Essential thrombocythemia, Essential tremor, Fatty Liver, Fibrillary Astrocytoma, Follicular Thyroid Carcinoma, Gallbladder neoplasm, Ganglioglioma, Gemistocytic Astrocytoma, Giant Cell Glioblastoma, Giant cell tumor of bone, Glioblastoma, Glioma, Gliosarcoma, Glycogen storage disease, Head and neck neoplasm, Heart disease, Hemangioma, Hemangiomatosis, Hematologic neoplasm, Hematologic Neoplasms, Hematological Disease, Hepatocellular carcinoma, Hidradenitis suppurativa, Hyperbilirubinemia, Hypertension, Hypotonic seizures, Hypoxia, Inflammatory Bowel Disease, Intellectual developmental disorder, Intervertebral Disc Degeneration, Intraductal noninfiltrating carcinoma, Intrahepatic Cholangiocarcinoma, Jacksonian Seizure, Kidney Failure, Large cell carcinoma, Leukemia, Liposarcoma, Liver Cancer, Liver carcinoma, Liver failure, Liver neoplasms, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphangioma, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Maffucci Syndrome, Malignant Histiocytoma, Malignant Neoplasm, Marinesco-Sjogren Syndrome, Mastocytosis, Medulloblastoma, Melanoma, Mental retardation, Metabolic Diseases, Metastatic Melanoma, Micromelia, Mixed Oligodendroglioma-Astrocytoma, Mixed Oligodendroglioma-Ependymoma, Monocytic Leukemia, Mouth neoplasm, Multiple myeloma, Muscular dystrophy, Myeloblastic Leukemia, Myelodysplastic Syndrome, Myelofibrosis, Myeloid Leukemia, Myelomonocytic leukemia, Myeloproliferative disorder, Nasopharyngeal carcinoma, Necrosis, Neoplasms, Neurodegenerative Disorders, Neurofibromatosis, Neuropathy, Non-Alcoholic Fatty Liver Disease, Non-Hodgkin lymphoma, Oculocutaneous albinism, Oligoastrocytoma, Oligodendroblastoma, Ollier Disease, Osteoarthrosis Deformans, Osteochondroma, Osteogenesis imperfecta, Osteopenia, Osteosarcoma, Ovarian neoplasm, Papillary thyroid cancer, Paraganglioma, Parathyroid Adenoma, Pheochromocytoma, Pituitary adenoma, Pleomorphic Xanthoastrocytoma, Polycythemia Vera, Precocious puberty, Promyelocytic Leukemia, Prostate cancer, Prostatic neoplasm, Protoplasmic Astrocytoma, Renal cell carcinoma, Renal Insufficiency, Retinitis Pigmentosa, Retinoblastoma, Rosette-Forming Glioneuronal Neoplasm, Rufous oculocutaneous albinism, Sarcoma, Scoliosis, Seizure, Seminoma, Senile Dementia, Sick sinus syndrome, Sickle cell anemia, Sinonasal undifferentiated carcinoma, Small cell lung carcinoma, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Systemic mastocytosis, T-Cell Lymphoma, Thrombocythemia, Thrombocytopenia, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Triple negative breast cancer, Triple Negative Breast Neoplasms, Trisomy, Tumor, Tumors Of Adrenal Cortex, Urinary bladder neoplasms, Urothelial Carcinoma, Uveal melanoma, Vascular disease, Visceral angiomatosis, Von Hippel-Lindau Syndrome, Vulvar Lichen Sclerosus
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75
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Isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
RP90 |
Curated: Osteoarthritis, Osteoporosis, Retinitis pigmentosa
Unreviewed: Arthritis, Bipolar Disorder, Cataract, Congenital Hypoplasia Of Penis, Diabetes Mellitus, Epileptic encephalopathy, Glaucoma, Hearing Loss, Hyperinsulinism, Hypogonadism, Keratoconus, Leber congenital amaurosis, Lung adenocarcinoma, Macular degeneration, Mental retardation, Mitochondrial encephalopathy, Myeloid leukemia, Neoplasms, Nervous System Disorder, Nystagmus, Obesity, Open angle glaucoma, Optic Atrophy, Osteoarthrosis Deformans, Retinitis Pigmentosa, Small cell lung carcinoma, Squamous cell carcinoma, Visual disorder
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76
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Isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
RP46 |
Curated: Optic atrophy, Retinitis pigmentosa, Stomach neoplasms, IDH3B-related retinopathy
Unreviewed: Bipolar Disorder, Cataract, Congenital Hypoplasia Of Penis, Diabetes Mellitus, Disorder Of Eye, Gastric Cancer, Glaucoma, Hearing Loss, Hidradenitis suppurativa, Hyperinsulinism, Hypogonadism, Keratoconus, Mental retardation, Nystagmus, Obesity, Optic Atrophy, Retinal Dystrophy, Retinitis Pigmentosa, Rod-cone dystrophy, Stomach Neoplasms
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