961
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Phosphoglycerate dehydrogenase |
3-PGDH, 3PGDH, HEL-S-113, NLS, NLS1, PDG, PGAD, PGD, PGDH, PHGDHD, SERA |
Curated: Amino acid metabolism disorder, Breast cancer, Breast neoplasms, Non-small-cell lung carcinoma, Desbuquois syndrome, Developmental and epileptic encephalopathy, Gout, Liver neoplasms, Macular telangiectasia, Melanoma, Multiple sclerosis, Neuropathy, Osteoarthritis, Osteomyelitis, Peripheral neuropathy, Prostatic neoplasms, neurometabolic disorder due to serine deficiency
Unreviewed: 3-phosphoglycerate dehydrogenase deficiency, Ablepharon, Absence Of Septum Pellucidum, Adenocarcinoma, Agenesis Of Corpus Callosum, alpha Thalassemia, Alzheimer disease, Ambiguous Genitalia, Amyotrophic Lateral Sclerosis, Anaplastic thyroid cancer, Anemia, Arthrogryposis multiplex congenita, Asthma, Astrocytoma, Atrial Septal Defect, Autoimmune Diseases, Azoospermia, B-cell Lymphoma, beta Thalassemia, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Burkitt`s Lymphoma, Carcinogenesis, Carcinoma, Cataract, Central Visual Impairment, Cerebellar Hypoplasia, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Cleidocranial Dysplasia, Clinodactyly, Cognition disorder, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Camptodactyly, Congenital Chromosomal Disease, Congenital Exomphalos, Congenital Microcephaly, Corneal dystrophy, Cryptorchidism, Cystic Fibrosis, Dandy-Walker Syndrome, Dermatitis, Developmental Delay, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diffuse Lymphoma, Dilated cardiomyopathy, Down Syndrome, Ductal carcinoma, Dwarfism, Dysgerminoma, Eczema, Embryonal carcinoma, Endometrial neoplasm, Epilepsy, Epileptic encephalopathy, Esophageal Carcinoma, Esophagitis, Esophagus Neoplasm, Esotropia, Ewing sarcoma, Fanconi Anemia, Fatty Liver, Fragile X Syndrome, Gastroesophageal Reflux Disease, Glioblastoma, Glioma, Gonadal Dysgenesis, Gonadoblastoma, Growth disorder, Hepatocellular carcinoma, Hereditary Leber Optic Atrophy, Huntington Disease, Hydranencephaly, Hyperoxaluria, Hypersomnia, Hypertension, Hypogonadism, Hypoplasia Of Corpus Callosum, Hypotonic seizures, Hypoxia, Ichthyosis, Idiopathic pulmonary fibrosis, Inflammatory Bowel Disease, Intellectual developmental disorder, Intestinal Neoplasms, Leigh Syndrome, Leprosy, Leukemia, Lissencephaly, Liver Cancer, Liver carcinoma, Liver neoplasm, Lobular carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lupus Erythematosus, Lupus Vulgaris, Lymphoblastic Leukemia, Lymphoma, Macrotia, Malignant Neoplasm, Mammary Neoplasms, Marfan Syndrome, Meckel syndrome, Medullary carcinoma, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Mental Depression, Mental retardation, Metabolic syndrome, Microcephaly, Micrognathism, Micromelia, Microphthalmos, Miscarriage, Mitochondrial disease, Mood Disorder, Multiple polyposis syndrome, Multiple Sclerosis, Muscular dystrophy, Myeloid leukemia, Myocardial Infarction, Myoclonic Seizures, Myotonic dystrophy, Nasopharyngeal Carcinoma, Neoplasms, Neu-Laxova Syndrome, Neuroblastoma, Neurodevelopmental Disorders, Neurofibromatosis, Nijmegen Breakage Syndrome, Nystagmus, Obesity, Osteopenia, Osteoporosis, Osteosarcoma, Ovarian diseases, Pachygyria, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic neoplasm, Papillary thyroid cancer, Papillary thyroid carcinoma, Paratuberculosis, Parkinson disease, Patent ductus arteriosus, Patent foramen ovale, Phosphoglycerate Dehydrogenase Deficiency, Phosphoserine aminotransferase deficiency, Polycystic kidney disease, Polymicrogyria, Promyelocytic Leukemia, Proptosis, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Pterygium, Pulmonary Fibrosis, Pulmonary hypoplasia, Renal agenesis, Renal Carcinoma, Retinal detachment, Rickets, Salaam Seizures, Sarcoidosis, Sarcoma, Scoliosis, Seizure, Seminoma, Spastic Quadriplegia, Spina Bifida, Stomach neoplasms, Submucosal cleft palate, Swyer Syndrome, Syndactyly of fingers, Syndactyly Of The Toes, Syndromic microphthalmia, Systemic lupus erythematosus, Systemic sclerosis, Talipes Transversoplanus, Testicular Feminization, Thyroid cancer, Transposition Of Great Vessels, Triple negative breast cancer, Triple Negative Breast Neoplasms, Trismus, Turner Syndrome, Ulcerative colitis, Urinary bladder neoplasms, Uterine neoplasm, Ventricular Fibrillation, Ventricular septal defect, Vertical Talus, Vitiligo, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS, Waisman syndrome
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963
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PHIP subunit of CUL4-Ring ligase complex |
BRWD2, CHUJANS, DCAF14, DIDOD, RepID, WDR11, ndrp |
Curated: Chung-jansen syndrome, Developmental delay with intellectual disability and obesity, Gout, Heart failure, Intellectual developmental disorder, x-linked, Intellectual developmental disorder, Neurodevelopmental disorder, Schizophrenia, Sjogren syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Unreviewed: Anxiety Disorder, Arachnoid cyst, Astigmatism, Attention Deficit Hyperactivity Disorder, Autism, Behavioral abnormality, Clinodactyly, Colorectal Cancer, Congenital abnormalities, Congenital Epicanthus, Congenital Torticollis, Convergence Insufficiency, Cornelia De Lange Syndrome, Cryptorchidism, De lange syndrome, Delayed menarche, Developmental Delay, Developmental Delay, Intellectual Disability, Obesity, And Dysmorphic Features, Developmental disability, Dysautonomia, Exotropia, Facial dysmorphism, Febrile seizures, Hearing Loss, Hemangioma, High palate, Hyperkinesia, Hyperopia, Hypothyroidism, Hypotonia, Lung Cancer, Lung carcinoma, Macrotia, Malignant Neoplasm, Malocclusion, Melanoma, Mental Depression, Mental retardation, Metastatic Melanoma, Micrognathism, Mood disorder, Myopia, Neoplasms, Nystagmus, Obesity, Obsessive-Compulsive Disorder, Posteriorly Rotated Ear, Pulmonary arterial hypertension, Sjogren`s Syndrome, Specific Learning Disorder, Strabismus, Syndactyly, Synophrys, Trichotillomania, Ureterocele
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967
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Phosphorylase kinase regulatory subunit alpha 2 |
GSD9A, PHK, PYK, PYKL, XLG, XLG2 |
Curated: Glycogen phosphorylase kinase deficiency, Glycogen storage disease, Ocular albinism
Unreviewed: Anemia, Cholestasis, Cirrhosis, Coronary artery disease, Developmental delay, Diabetes mellitus, type 2, Dimauro disease, Dwarfism, Endometrial neoplasm, Esophageal varix, Fatty Liver, Gerstmann-Straussler-Scheinker syndrome, Glycogen Storage Disease, Hemolytic anemia, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatomegaly, Hypercholesterolemia, Hyperlipoproteinemia, Hyperuricemia, Hypoglycemia, Hypoglycemic seizures, Ketosis, Liver Fibrosis, Malignant Neoplasm, Mental retardation, Motor delay
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