1551
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PML nuclear body scaffold |
MYL, PP8675, RNF71, TRIM19 |
Curated: Diabetes mellitus, Dyslipidemias, Glioblastoma, Insomnia, Promyelocytic leukemia, Metabolic syndrome, Prostatic neoplasms, Schizophrenia, Stevens-johnson syndrome, Diabetes mellitus type 2, Uterine fibroid
Unreviewed: 15q24 Microdeletion, Acute Myeloid Leukemia, Adenocarcinoma, Adenocarcinoma Of Colon, alpha-Thalassemia Mental Retardation Syndrome, X-Linked, Alternating hemiplegia of childhood, Alzheimer disease, Ampullary Carcinoma, Anemia, Anorexia, Aortic dissection, Ataxia, Ataxia Telangiectasia, Atrichia With Papular Lesions, Autoimmune Diseases, B-Cell Lymphoma, Biliary Cirrhosis, Bladder carcinoma, Bladder Neoplasm, Blood coagulation disorder, Blood Coagulation Disorders, Bloom Syndrome, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchial disease, Carcinogenesis, Carcinoma, Cardiomegaly, Celiac disease, Central Nervous System Neoplasms, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Chronic obstructive pulmonary disease, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital Chromosomal Disease, Coronary artery disease, Crohn Disease, Demyelinating Diseases, Diabetes Mellitus, Diffuse alveolar hemorrhage, Disseminated Intravascular Coagulation, Down Syndrome, Ductal carcinoma, Endometrial neoplasm, Epiretinal Membrane, Erythroblastic Leukemia, Exfoliation Syndrome, Fanconi anemia, Fanconi-Bickel Syndrome, Fatty Liver, Fibrinogen Deficiency, Gallbladder cancer, Gallbladder neoplasm, Gangrene, Gastrointestinal stromal tumor, Giant Cell Glioblastoma, Glioma, Granulomatosis With Polyangiitis, Heart disease, Heart failure, Hematologic disease, Hematologic neoplasm, Hematopoietic Neoplasms, Hepatic Encephalopathy, Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatitis b, Hepatocellular carcinoma, Hodgkin Disease, Hodgkin Lymphoma, Hyperglycemia, Hypofibrinogenemia, Hypoxia, Immunologic Deficiency Syndromes, Leukemia, Leukopenia, Lipodystrophy, Liposarcoma, Liver carcinoma, Liver cirrhosis, Liver neoplasms, Lung Cancer, Lung carcinoma, Lung disease, Lung neoplasms, Lupus Erythematosus, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Lymphopenia, Lymphoproliferative syndrome, Malignant Neoplasm, Mammary Neoplasms, Marinesco-Sjogren Syndrome, Megakaryocytic Leukemia, Melanoma, Mitral Valve Stenosis, Monocytic Leukemia, Multiple myeloma, Multiple Sclerosis, Myeloblastic Leukemia, Myeloid Leukemia, Myeloproliferative disorder, Myocardial Infarction, Myopia, Myxoid Liposarcoma, Nasopharyngeal Carcinoma, Neoplasms, Neuroblastoma, Neurodegenerative disorder, Neurodegenerative Disorders, Neutropenia, Non-Hodgkin lymphoma, Osteoporosis, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Paget disease, Pancreatic ductal carcinoma, Pancreatic neoplasm, Pancytopenia, Papilloma, Penile neoplasm, Pigmentary Disorder, Reticulate, With Systemic Manifestations, Prader-Willi Syndrome, Proliferative Diabetic Retinopathy, Promyelocytic Leukemia, Prostate cancer, Prostatic hyperplasia, Prostatic neoplasm, Prostatic Neoplasms, Renal Carcinoma, Renal cell carcinoma, Renal Insufficiency, Rheumatoid arthritis, Sarcoma, Seminoma, Severe congenital neutropenia, Skin Neoplasms, Small cell lung carcinoma, Spinal Muscular Atrophy, Spinocerebellar Ataxia, Squamous cell carcinoma, Stevens-Johnson Syndrome, Stomach Carcinoma, Stomach Neoplasms, Stomatitis, Systemic lupus erythematosus, Transient myeloproliferative disorder, Treatment Related Secondary Malignancy, Triple negative breast cancer, Triple Negative Breast Neoplasms, Tumor, Urinary bladder cancer
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1552
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|
|
Phosphomannomutase 1 |
PMM 1, PMMH-22, Sec53 |
Curated: Attention deficit hyperactivity disorder, Autism, Global developmental delay
Unreviewed: 22q13 monosomy syndrome, Cerebral Ischemia, Congenital disorder of glycosylation
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1553
|
|
|
Phosphomannomutase 2 |
CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2 |
Curated: Breast cancer, Cerebellar ataxia, Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, Cerebral atrophy, Cerebral palsy, Colorectal neoplasms, Congenital disorder of glycosylation, Diabetes mellitus, Focal glomerulosclerosis, Hyperinsulinemic hypoglycemia, Intellectual developmental disorder, Muscular dystrophy, Open angle glaucoma, Premature ovarian failure, Pituitary stalk interruption syndrome, hyperinsulinemic hypoglycemia with polycystic kidney disease, PMM2-congenital disorder of glycosylation
Unreviewed: Acquired Kyphoscoliosis, Albinism, Antithrombin Deficiency, Anxiety Disorder, Aplasia of the ovary, Breast neoplasm, Cardiomyopathy, Cardiovascular Diseases, Cataract, Cerebellar atrophy, Cerebellar Diseases, Cerebellar Hypoplasia, Cerebral Atrophy, Cerebral Ischemia, Ciliopathy, Coloboma of optic disc, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Complete Atrioventricular Block, Congenital diaphragmatic hernia, Congenital Epicanthus, Congenital heart defect, Congenital heart septal defect, Congenital hyperinsulinism, Congenital kyphoscoliosis, Cryptorchidism, Cutis Laxa, Dandy-Walker Syndrome, Development Disorder, Developmental Delay, Diabetes Mellitus, Diabetic Nephropathy, Dysarthria, Dysmorphic Features, Esotropia, Fatty Liver, Glaucoma, Glycogen storage disease, Granulomatous Disease, Hemiplegic Migraine, High palate, Hydrops Fetalis, Hyperinsulinism, Hypertension, Hypertrophic cardiomyopathy, Hypoalbuminemia, Hypocholesterolemia, Hypogonadism, Hypogonadotropic Hypogonadism, Hypoplasia Of Nipple, Hypothyroidism, Inborn Errors Of Metabolism, Inflammatory bowel disease, Ischemic stroke, Leukemia, Lipodystrophy, Liver Fibrosis, Lung adenocarcinoma, Macrostomia, Macrotia, Malignant Neoplasm, Malocclusion, Mental retardation, Metabolic Diseases, Microcephaly, Movement Disorders, Multiple renal cysts, Myocardial Infarction, Myopia, Neoplasms, Nephrotic Syndrome, Nervous System Diseases, Nystagmus, Olivopontocerebellar Atrophies, Osteopenia, Osteoporosis, Ovarian Failure, Pericardial effusion, Pericarditis, Peripheral nervous system disease, Peripheral Neuropathy, Periventricular Leukomalacia, Pleural effusion, Polycystic kidney disease, Polyneuropathy, Premature Menopause, Pulmonary Stenosis, Renal cell carcinoma, Renal cyst, Retinitis Pigmentosa, Rod-cone dystrophy, Schizophrenia, Skin Lesion, Spinocerebellar ataxia, Strabismus, Stress Disorder, Synophrys, Thrombocytopenia, Thrombocytosis, Thrombosis, Ventricular arrhythmia, Ventricular hypertrophy, West Syndrome
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1554
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|
|
PMM2 antisense RNA 1 |
- |
Curated: N/A
Unreviewed: N/A
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1555
|
|
|
Phosphomannomutase 2 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
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1556
|
|
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Phosphomannomutase 2 pseudogene 2 |
- |
Curated: N/A
Unreviewed: N/A
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1557
|
|
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Peripheral myelin protein 2 |
CMT1G, FABP8, M-FABP, MP2, P2 |
Curated: Charcot-marie-tooth disease, Cutaneous mastocytosis, Ovarian cancer, Ovarian serous carcinoma, Peripheral neuropathy, Schizophrenia, Diabetes mellitus type 2
Unreviewed: Alzheimer disease, Charcot-Marie-Tooth Disease, Demyelinating diseases, Gingival diseases, Hereditary motor and sensory neuropathy, Malignant Neoplasm, Melanoma, Nervous system disease, Nervous System Diseases, Neuropathy, Peripheral nervous system disease, Peripheral Neuropathy, Polyneuropathy
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1558
|
|
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Peripheral myelin protein 22 |
CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110 |
Curated: Charcot-marie-tooth disease, Dejerine-sottas disease, Demyelinating diseases, Developmental disability, Distal spinal muscular atrophy, Myoclonic epilepsy, Hereditary motor and sensory neuropathies, Hereditary sensory and motor neuropathy, Hypertrophic neuropathy, Hereditary neuropathy with liability to pressure palsies, Non-neoplastic peripheral nervous system disease, Paresthesia, Peripheral nervous system disease, Peripheral neuropathy, Peroneal muscle atrophy, Roussy-levy syndrome, Seasonal allergic rhinitis, Charcot-Marie-Tooth disease type 1A
Unreviewed: Agammaglobulinemia, Anemia, Breast Cancer, Breast neoplasm, Cholangiocarcinoma, Cholangitis, Diabetes mellitus, Hepatic veno occlusive disease, Hepatic veno occlusive disease with immunodeficiency, Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic Venoocclusive Disease With Immunodeficiency, Hepatitis b, Hepatocellular carcinoma, Immunologic Deficiency Syndromes, Leukodystrophy, Liver failure, Lymphocytic Leukemia, Lymphopenia, Malignant Neoplasm, Microcephaly, Pancytopenia, Paraplegia, Portal Hypertension, Promyelocytic leukemia, Pulmonary Fibrosis, Seizure, Severe combined immunodeficiency disease
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1559
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|
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Peptidase, mitochondrial processing subunit alpha |
Alpha-MPP, CLA1, CPD3, INPP5E, MAS2, P-55, SCAR2 |
Curated: Cerebelloparenchymal disorder, Spinocerebellar ataxia, Ptosis, Blindness, Cerebellar ataxia, Lactic acidosis, Normal pressure hydrocephalus, Hypertrophic cardiomyopathy, Inflammatory bowel disease, Mitochondrial disease, Optic atrophy
Unreviewed: Adenoma, Adrenal Gland Pheochromocytoma, Adrenocortical adenoma, Adrenocortical carcinoma, Arteriosclerosis, Ataxia, Atherosclerosis, Cataract, Cerebellar Ataxia, Cerebellar diseases, Cerebellar Hypoplasia, Cerebelloparenchymal Disorder, Conn Syndrome, Coronary Heart Disease, Cortical development malformation, Cushing`s Syndrome, Developmental and epileptic encephalopathy, Developmental Delay, Diabetes Mellitus, Dwarfism, Dysarthria, Epilepsy, Hydrocephalus, Leydig Cell Tumor, Liver carcinoma, Liver neoplasms, Malabsorption Syndrome, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Mental retardation, Metachromatic leukodystrophy, Movement Disorders, Neoplasms, Nervous System Disorder, Nystagmus, Ocular albinism, Optic Atrophy, Pheochromocytoma, Prostate adenocarcinoma, Retinitis Pigmentosa, Scoliosis, Spinocerebellar Ataxia
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1560
|
|
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PMPCA pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
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