972
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ALG2 alpha-1,3/1,6-mannosyltransferase |
CDG1I, CDGIi, CMS14, CMSTA3, NET38, hALPG2 |
Curated: Congenital disorder of glycosylation, Congenital myasthenic syndrome, Myasthenic syndrome, ALG2-congenital disorder of glycosylation
Unreviewed: Attention deficit hyperactivity disorder, Breast Cancer, Breast Carcinoma, Cataract, Congenital Coloboma Of Iris, Congenital Myasthenic Syndromes With Glycosylation Defect, Congenital ocular coloboma, Developmental Delay, Epilepsy, Facial paralysis, Glioblastoma, Glycogen storage disease, High palate, Impaired Cognition, Lung neoplasms, Malignant Neoplasm, Melanoma, Mental retardation, Motor delay, Multiple system atrophy, Myasthenia Gravis, Myasthenic Syndrome, Myopathy, Neoplasms, Nystagmus, Polycystic ovary syndrome, Ptosis, Scoliosis, Seizures, Uveal melanoma
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973
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ALG3 alpha-1,3- mannosyltransferase |
CDG1D, CDGS4, CDGS6, D16Ertd36e, NOT56L, Not56, not |
Curated: Congenital disorder of glycosylation, Desbuquois syndrome, Intellectual developmental disorder, ALG3-congenital disorder of glycosylation
Unreviewed: Alzheimer disease, Arthrogryposis multiplex congenita, Breast Cancer, Breast Carcinoma, Carcinoma Of The Head And Neck, Cerebellar atrophy, Cerebral Atrophy, Clinodactyly, Congenital Clubfoot, Congenital Coloboma Of Iris, Congenital Epicanthus, Developmental Delay, Epilepsy, Esophagus Neoplasm, Food Intolerance, High palate, Laryngeal Carcinoma, Leukemia, Lymphatic metastasis, Macrotia, Malignant Neoplasm, Microcephaly, Nail Diseases, Nail dysplasia, Nasopharyngeal carcinoma, Neoplasms, Optic Atrophy, Strabismus, Urinary bladder neoplasms, Uterine neoplasm
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977
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ALG8 alpha-1,3-glucosyltransferase |
CDG1H, PCLD3 |
Curated: Congenital disorder of glycosylation, Polycystic kidney disease, Major depressive disorder, Polycystic liver disease, autosomal dominant polycystic kidney disease
Unreviewed: Anemia, Autism, Cataract, Cholestasis, Congenital Camptodactyly, Congenital Clubfoot, Cryptorchidism, Cystic Kidney Disease, Cystic liver disease, Developmental Delay, Diabetes mellitus, type 2, Dysmorphic Features, Heart Septal Defects, Hydrops Fetalis, Hypoalbuminemia, Hypothyroidism, Intellectual developmental disorder, Intestinal Diseases, Kidney disease, Liver Cyst, Liver failure, Macroglossia, Mental Depression, Micrognathism, Ovarian neoplasm, Patent ductus arteriosus, Protein-losing enteropathy, Renal cyst
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978
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ALG9 alpha-1,2-mannosyltransferase |
CDG1L, DIBD1, GIKANIS, LOH11CR1J |
Curated: Polycystic kidney disease, Congenital disorder of glycosylation, Cardiovascular disease, Desbuquois syndrome, Gout, Hypertension, Polycystic liver disease, ALG9-associated autosomal dominant polycystic kidney disease
Unreviewed: Autism, Brachycephaly, Cardiovascular Diseases, Cerebellar atrophy, Colorectal neoplasm, Congenital heart defects, Cystic Kidney Disease, Cystic liver disease, Defect Of Skull Ossification, Developmental Delay, Developmental disability, Epileptic encephalopathy, Esotropia, Frontal bossing, Galactosemia, Heart Septal Defects, Hepatomegaly, Hydrops Fetalis, Impaired Cognition, Intellectual developmental disorder, Kidney disease, Liver failure, Macrostomia, Mental retardation, Mesatipellic Pelvis, Microcephaly, Micrognathism, Neuroendocrine Tumors, Nonorganic Psychosis, Osteochondrodysplasia, Paroxysmal dystonia, Pericardial effusion, Polycystic kidney disease with Microbrachycephaly, Hypertelorism, and Brachymelia, Posteriorly Rotated Ear, Proptosis, Psychosis, Pulmonary hypoplasia, Schizophrenia, Seizures, Skeletal Dysplasia, Tourette Syndrome
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980
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ALK receptor tyrosine kinase |
ALK1, CD246, NBLST3 |
Curated: Eczema, Behcet disease, Brain infarction, Brain neoplasms, Breast neoplasms, Non-small-cell lung carcinoma, Renal cell carcinoma, Cataract, Central nervous system cancer, Conotruncal cardiac defect, Coronary artery disease, Dementia, Dental caries, Major depressive disorder, Diabetic maculopathy, Differentiated thyroid carcinoma, Gastric cancer, Gastric ulcer, Glioblastoma, Glioma, Glomerulonephritis, Diffuse large b-cell lymphoma, Myopathy, Neuroblastoma, Parkinson disease, Prostate cancer, Schizophrenia, Squamous cell carcinoma, Stroke, neuroblastoma, susceptibility to, 3
Unreviewed: Abetalipoproteinemia, Adenocarcinoma, Adenoid cystic carcinoma, Allergic rhinitis, alpha-Thalassemia Mental Retardation Syndrome, X-Linked, Alveolar Rhabdomyosarcoma, Anaplasia, Anaplastic Carcinoma, Anaplastic Lymphoma, Anaplastic thyroid cancer, Anemia, Angina pectoris, Angioendotheliomatosis, Angioimmunoblastic T-cell lymphoma, Anophthalmia, Asthma, Astrocytoma, Ataxia telangiectasia, B-Cell Lymphoma, Benign fibrous histiocytoma, Biliary tract neoplasms, Blue Nevus, Brain disease, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Carcinoid tumor, Carcinoma, Carcinoma Of The Head And Neck, Carcinosarcoma, Cardiomegaly, Cardiovascular disease, Castleman disease, Celiac disease, Central nervous system disease, Central nervous system neoplasm, Central Nervous System Neoplasms, Cerebral hemorrhage, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Chordoma, Choreoathetosis, Chromophobe Carcinoma, Chronic Obstructive Pulmonary Disease, CNS Disorder, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Chromosomal Disease, Conjunctivitis, Cough, Dermatologic Disorders, Diabetes Mellitus, Diffuse Lymphoma, Digestive system neoplasm, Disseminated Intravascular Coagulation, Ear disease, Embryonal Rhabdomyosarcoma, Emphysema, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Endometrial Stromal Sarcoma, Endometrioid cancer, Ependymoma, Epileptic encephalopathy, Epithelioid Hemangioendothelioma, Erythroblastic Leukemia, Esophagus Neoplasm, Esotropia, Ewing sarcoma, Exanthema, Eye disease, Fibrous Histiocytoma, Ganglioglioma, Ganglioneuroblastoma, Ganglioneuroma, Gastric lymphoma, Gastrointestinal disease, Gastrointestinal Neoplasms, Gastrointestinal stromal tumor, Gliosarcoma, Glycogen storage disease, Granulomas, Head and neck neoplasm, Hemangiosarcoma, Hematologic neoplasm, Hematologic Neoplasms, Hematological Disease, Hematopoietic Neoplasms, Hemophagocytic Syndrome, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Hirschsprung Disease, Histiocytoma, Histiocytosis, Hodgkin Disease, Hodgkin Lymphoma, Hyperglycemia, Hypertriglyceridemia, Hypoxia, Ichthyosis, Idiopathic pulmonary fibrosis, IGF-I RESISTANCE, Immunologic Deficiency Syndromes, Impaired Cognition, Inflammatory Myofibroblastic Tumor, Intestinal Diseases, Intracranial Neoplasm, Intraductal noninfiltrating carcinoma, Iron deficiency anemia, Kidney Disease, Kidney Failure, Large cell carcinoma, Laryngeal Carcinoma, Leiomyoma, Leiomyosarcoma, Leukemia, Leukocytoclastic Vasculitis, LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS, Leukopenia, liposarcoma, Liver carcinoma, Liver disease, Liver failure, Liver neoplasm, Liver neoplasms, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Diseases, Lung Neoplasms, Lymphatic metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphohistiocytosis, Lymphoid leukemia, Lymphoma, Lymphomatoid Papulosis, Lymphoproliferative Disorder, Lymphoproliferative syndrome, Lynch Syndrome, Malignant Mesothelioma, Malignant Neoplasm, Malignant neoplasm of the central nervous system, Mammary Neoplasms, Marfan Syndrome, Marinesco-Sjogren Syndrome, Mastocytosis, Medullary thyroid cancer, Medulloblastoma, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Mental Depression, Merkel cell carcinoma, Mesothelioma, Metastatic Melanoma, Monoclonal Gammapathies, Mucinous Adenocarcinoma, Mucoepidermoid carcinoma, Mucopolysaccharidosis, Mucosa-associated lymphoma, Multiple myeloma, Multiple polyposis syndrome, Myasthenia gravis, Myelodysplastic Syndrome, Myeloid Leukemia, Myelomonocytic Leukemia, Myeloproliferative disorder, Myeloproliferative Disorder with Eosinophilia, Myxoid Liposarcoma, Nasal polyp, Necrosis, Neoplasm, Neoplasms, Nephroblastoma, Nervous System Neoplasms, Neural Crest Tumor, Neuroendocrine Tumors, Neurofibromatosis, Neutropenia, Non-Hodgkin lymphoma, Osteosarcoma, Ovarian adenocarcinoma, Ovarian cancer, Ovarian Carcinoma, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian neoplasm, Ovarian serous adenocarcinoma, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Papillary Renal Carcinoma, Papillary thyroid cancer, Papillary thyroid carcinoma, Pericardial effusion, Perineurioma, Peripheral nervous system disease, Peritoneal Carcinoma, Peritoneal mesothelioma, Peritonitis, Pheochromocytoma, Pleural diseases, Pleural effusion, Primary cutaneous anaplastic large cell lymphoma, Promyelocytic Leukemia, Prostatic neoplasm, Psammomatous Meningioma, Pulmonary arterial hypertension, Pulmonary Fibrosis, Pulmonary hypertension, Renal Carcinoma, Renal Insufficiency, Respiratory Failure, Reticulosarcoma, Retinoblastoma, Rhabdoid Tumor, Rhabdomyosarcoma, Salivary gland neoplasms, Sarcoidosis, Sarcoma, Seizures, Senile Dementia, Septicemia, Small cell carcinoma, Small cell lung carcinoma, Soft Tissue Neoplasms, Spitz nevus, Steroid Sulfatase Deficiency Disease, Stomach Carcinoma, Stomach neoplasms, Subcutaneous Panniculitis-Like T-Cell Lymphoma, Syndromic microphthalmia, Synovial sarcoma, Systemic mastocytosis, T-Cell Lymphoma, T-Cell Lymphoma/Leukemia, T-Cell Prolymphocytic Leukemia, Thoracic disease, Thoracic Diseases, Thoracic neoplasm, Thrombocytosis, Thromboembolism, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Thyroid Nodule, Triple negative breast cancer, Trisomy, Urinary bladder neoplasms, Urothelial Carcinoma, Uterine disease, Uterine Fibroids, Uterine neoplasm, Uterine polyp, Vascular malformation, Vascular neoplasm, Vasculitis
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