192424
|
|
|
Xylosyltransferase 1 |
DBQD2, PXYLT1, XT-I, XT1, XTI, XYLTI, xylT-I |
Curated: Alzheimer disease, Attention deficit hyperactivity disorder, Pseudoxanthoma elasticum, Bone fragility with contractures, arterial rupture, and deafness, Graft versus host disease, Color vision deficiency, Corneal astigmatism, Dementia, Desbuquois dysplasia, Desbuquois syndrome, Diabetes mellitus type 1, Duchenne muscular dystrophy, Dyslexia, Erectile dysfunction, Larsen syndrome, Major depressive disorder, Obesity, Oligodendroglioma, Osteoporosis-pseudoglioma syndrome, Psoriasis, Sarcoidosis, Spondylosis, Substance abuse, Tourette syndrome, Diabetes mellitus type 2, Vascular dementia, Congenital disorder of glycosylation
Unreviewed: Acne, Age-related macular degeneration, Angioid streaks, Aortic Aneurysm, Arnold-Chiari malformation, Arthritis, Astrocytoma, Barber Say Syndrome, Bernard Soulier Syndrome, Blood coagulation disorder, Brooke-Spiegler Syndrome, Camptodactyly of fingers, Cartilage disease, Chondrosarcoma, Chronic disease, Clinodactyly, Congenital Disorder Of Glycosylation, Congenital Epicanthus, Congenital genu recurvatum, Congestive Heart Failure, Desbuquois Dysplasia, Desbuquois Syndrome, Developmental Delay, Diabetes Mellitus, Diabetes mellitus, type 1, Diabetic Nephropathy, Diabetic neuropathy, Dilated cardiomyopathy, Drusen, Duchenne Muscular Dystrophy, Dwarfism, Dysmorphic Features, Epiphyseal dysplasia, Facial dysmorphism, Glaucoma, Growth disorder, Heart disease, Hypertension, Hypertrophy, Hypodontia, Hypotrichosis, Insulin-Like Growth Factor I Deficiency, Intervertebral Disc Degeneration, Isolated Somatotropin Deficiency, Kidney Disease, Leukemia, Liver cirrhosis, Macrocephaly, Mental retardation, Microcephaly, Mitral Valve Prolapse, Mitral Valve Stenosis, Mouth Abnormalities, Mucopolysaccharidosis, Myopia, Osteoarthritis, Osteochondrodysplasia, Platelet disorder, Proptosis, Radioulnar Synostosis, Renal Insufficiency, Restrictive cardiomyopathy, Scoliosis, Short clavicles, Skeletal Dysplasia, Somatotropin Deficiency, Spondyloepiphyseal dysplasia, Stroke, Synophrys, Systemic sclerosis, Ventricular septal defect
|
192425
|
|
|
Xylosyltransferase 2 |
PXYLT2, SOS, XT-II, XT2, xylT-II |
Curated: Pseudoxanthoma elasticum, Bone fragility with contractures, arterial rupture, and deafness, Desbuquois syndrome, Larsen syndrome, Marshall syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome
Unreviewed: Age-related macular degeneration, Angioid streaks, Ataxia Telangiectasia, Atrial Septal Defect, Bladder carcinoma, Bladder Neoplasm, Cataract, Cerebral Infarction, Congenital heart defect, Congestive Heart Failure, Desbuquois Syndrome, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Nephropathy, Drusen, Dysmorphic Features, Ewing sarcoma, Eye abnormalities, Fatty Liver, Graft-Vs-Host Disease, Hearing Loss, Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatocellular carcinoma, Hyperbilirubinemia, Hypertension, Kidney Disease, Leukemia, Lipodystrophy, Malignant Neoplasm, Mental Depression, Mental retardation, Microphthalmos, Mitral Valve Prolapse, Mitral Valve Stenosis, Mouth Abnormalities, Mucopolysaccharidosis, Multiple Congenital Anomalies, Myelomonocytic Leukemia, Myopia, Neck Webbing, Neoplasms, Noonan Syndrome, Nystagmus, Obesity, Osteopenia, Osteoporosis, Papilloma, Parkinson disease, Posteriorly Rotated Ear, Psoriatic Arthritis, Renal Insufficiency, Restrictive cardiomyopathy, Retinal Detachment, Scleroderma, Skin disease, Skin Lesion, Skin Neoplasms, Spondyloocular Syndrome, Stroke, Subarachnoid hemorrhage, Trichohepatoenteric Syndrome, Urinary bladder cancer, Ventricular septal defect, Xeroderma Pigmentosum
|
192426
|
|
|
YAE1 maturation factor of ABCE1 |
C7orf36, CIAB2, GK003, YAE1D1 |
Curated: N/A
Unreviewed: N/A
|
192430
|
|
|
Yes1 associated transcriptional regulator |
COB1, YAP, YAP-1, YAP2, YAP65, YKI |
Curated: Alzheimer disease, Brain neoplasms, Breast neoplasms, Hepatocellular carcinoma, Coloboma, cleft lip-palate and mental retardation syndrome, Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development, Colorectal neoplasms, Congenital ocular coloboma, Migraine, Neuroblastoma, Open angle glaucoma, Ovarian neoplasms, Polycystic ovary syndrome, Rhabdomyosarcoma, Squamous cell carcinoma, Uveal coloboma-cleft lip and palate-intellectual disability
Unreviewed: Adenocarcinoma, Adenoma, Adrenocortical carcinoma, Alveolar Rhabdomyosarcoma, Anaplasia, Anaplastic thyroid cancer, Anencephaly, Aneuploidy, Angioma, Anophthalmia, Aortic dissection, Arteriosclerosis, Arthritis, Asthma, Astrocytoma, Atherosclerosis, Atrophy, Autoimmune hepatitis, B-Cell Lymphoma, Basal cell carcinoma, Benign Prostatic Hyperplasia, Bile duct disease, Biliary atresia, Bladder carcinoma, Bladder Neoplasm, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast Carcinoma, male, Breast neoplasm, Bronchial disease, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Carcinoma in situ, Cardiomyopathy, Cartilage disease, Cataract, Central Nervous System Neoplasms, Cerebrovascular disorder, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Cholangiocarcinoma, Chondrosarcoma, Chorioangioma, Chromosomal instability, Chronic Obstructive Pulmonary Disease, Chronobiology disorder, Cleft Palate And Bilateral Cleft Lip, Colitis, Coloboma, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Coloboma Of Iris, Congenital Contractural Arachnodactyly, Congenital diarrhea, Congenital heart defect, Congenital heart septal defect, Congestive Heart Failure, Coronary Heart Disease, Cystic Kidney Disease, Dermatologic Disorders, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Nephropathy, Diabetic neuropathy, Diabetic Retinopathy, Diffuse Lymphoma, Disorder Of Eye, Double outlet right ventricle, Duchenne muscular dystrophy, Ductal carcinoma, Dupuytren contracture, Ectodermal dysplasia, Embryonal Rhabdomyosarcoma, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Endometriosis, Ependymoma, Episodic Kinesigenic Dyskinesia, Epithelial ovarian carcinoma, Epithelioid Hemangioendothelioma, Epithelioid hemangioma, Esophageal Cancer, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Ewing sarcoma, Eye disease, Fanconi anemia, Fatty Liver, Fibrodysplasia Ossificans Progressiva, Focal segmental glomerulosclerosis, Fundus Coloboma, Gallbladder cancer, Gastric Cancer, Gastrointestinal neoplasm, Gastrointestinal stromal tumor, Giant cell arteritis, Glaucoma, Glioblastoma, Glioma, Glomerulosclerosis, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Hearing Loss, Heart disease, Heart Failure, Hemangioma, Hemangiosarcoma, Hematologic neoplasm, Hematologic Neoplasms, Hepatitis c, Hepatoblastoma, Hepatocellular Carcinoma, Hepatomegaly, Hereditary breast and ovarian cancer syndrome, Huntington disease, Hyperandrogenism, Hyperplasia, Hypertension, Hypoplastic left heart syndrome, Hypoxia, Idiopathic pulmonary fibrosis, Infertility, Inflammatory bowel disease, Intervertebral Disc Degeneration, Intervertebral disc disease, Intervertebral Disc Disorder, Intracranial arteriovenous malformation, Intracranial Neoplasm, Intrahepatic Cholangiocarcinoma, Iron overload, Junctional Epidermolysis Bullosa, Kaposi Sarcoma, Kidney disease, Kidney Failure, Laryngeal Carcinoma, Laryngeal neoplasm, Leiomyoma, Leukemia, Lichen amyloidosis, liposarcoma, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver disease, Liver failure, Liver Fibrosis, Liver neoplasms, Lobular carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Diseases, Lung Neoplasms, Lymphatic metastasis, Lymphoma, Male breast neoplasms, Malformation of cortical development, Malignant gastrointestinal tract tumors, Malignant Histiocytoma, Malignant Mesothelioma, Malignant Neoplasm, Malignant Peripheral Nerve Sheath Tumor, Mammary Neoplasms, Marfan Syndrome, Medullary thyroid cancer, Medulloblastoma, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Meningioma, Mental retardation, Merkel cell carcinoma, Mesothelioma, Microphthalmia With Coloboma, Microphthalmos, Mitochondrial disease, Mouth disease, Mucoepidermoid Carcinoma, Multiple myeloma, Multiple polyposis syndrome, Multiple sclerosis, Myeloid Leukemia, Myeloproliferative disorder, Myocardial Infarction, Myocardial Ischemia, Myotonia congenita, Nasal polyp, Nasopharyngeal carcinoma, Necrosis, Neoplasm of gallbladder, Neoplasms, Neurodevelopmental Disorders, Neuroendocrine Tumors, Neurofibromatosis, Neurofibrosarcoma, Non-Alcoholic Fatty Liver Disease, Nystagmus, Obesity, Ocular Coloboma, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation, Ocular hypertension, Oestrogen Receptor Positive Breast Cancer, Optic Atrophy, Oral Submucous Fibrosis, Osteoarthritis, Osteopenia, Osteoporosis, Osteosarcoma, Ovarian cancer, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian neoplasm, Ovarian serous adenocarcinoma, Ovarian Serous Cystadenocarcinoma, Pachyonychia Congenita, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic neoplasm, Pancreatitis, Papillary thyroid carcinoma, Papilloma, Parathyroid neoplasm, Parkinson disease, Pemphigus, Periodontitis, Peritoneal neoplasm, Pheochromocytoma, Polycystic kidney disease, Polycystic Ovary Syndrome, Poroma, Posterior embryotoxon, Proliferative Vitreoretinopathy, Promyelocytic leukemia, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Ptosis, Pulmonary Fibrosis, Rectal Carcinoma, Renal Carcinoma, Renal cell carcinoma, Renal fibrosis, Renal Glomerular Disease, Renal glycosuria, Retinal coloboma, Retinal Detachment, Retinoblastoma, Rheumatoid arthritis, Rufous oculocutaneous albinism, Sarcoma, Sepsis, Sinusitis, Skin cancer, Skin carcinoma, Skin Neoplasms, Small cell carcinoma, Small cell lung carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Subarachnoid hemorrhage, Subfertility, Sveinsson chorioretinal atrophy, Syndromic microphthalmia, Synovial sarcoma, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Triple negative breast cancer, Triple Negative Breast Neoplasms, Ulcerative colitis, Urethral obstruction, Urinary bladder cancer, Urinary bladder neoplasms, Uterine disease, Uterine neoplasm, Uterine polyp, Uveal Melanoma, Vacuolar myopathy, Vascular disease, Ventricular septal defect, Warburg micro syndrome
|