721
|
|
|
- |
- |
Curated: N/A
Unreviewed: N/A
|
722
|
|
|
EP300 lysine acetyltransferase |
KAT3B, MKHK2, RSTS2, p300 |
Curated: Cerebellar ataxia, Breast neoplasms, Adenoid cystic carcinoma, Squamous cell carcinoma, Transitional cell carcinoma, Charge syndrome, Colorectal cancer, Colorectal neoplasms, Congenital microcephaly, Congestive heart failure, Craniofacial abnormalities, Desbuquois syndrome, Endometrial neoplasms, Developmental and epileptic encephalopathy, Esophageal squamous cell carcinoma, Heart failure, Insomnia, Intellectual developmental disorder, Irritable bowel syndrome, Major depressive disorder, Melanoma, Myopia, Neurodevelopmental disorder, Obesity, Oligodendroglioma, Osteoarthritis, Retinitis pigmentosa, Rubinstein-taybi syndrome, Schizophrenia, Small cell lung carcinoma, Stevens-johnson syndrome, Diabetes mellitus type 2, Urinary bladder neoplasms
Unreviewed: 22q13 monosomy syndrome, Adenocarcinoma, Agenesis Of Corpus Callosum, Agoraphobia, Alzheimer disease, Androgen insensitivity syndrome, Angelman Syndrome, Ankylosing Spondylitis, Anxiety Disorder, Aortic Aneurysm, Aortic dissection, Aplastic anemia, Arrhythmogenic right ventricular cardiomyopathy, Atherosclerosis, Atrial Septal Defect, Atrophy, Autism, Avascular Necrosis Of The Capital Femoral Epiphysis, B-Cell Lymphoma, Benign Tumor Of Pancreas, Bladder carcinoma, Bladder Neoplasm, Blast phase chronic myelogenous leukemia, Bone disease, Breast Adenocarcinoma, Breast Cancer, Breast Carcinoma, Breast neoplasm, Burkitt`s Lymphoma, Camptodactyly of fingers, Capillary infantile hemangioma, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiovascular disease, Cataract, Central nervous system neoplasm, Cerebellar diseases, Chorioretinal dystrophy, Chronic obstructive pulmonary disease, Cirrhosis, Cognition disorder, Colon Carcinoma, Colonic disease, Colonic neoplasm, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Epicanthus, Congenital heart defect, Congenital heart septal defect, Congenital Malformation Syndrome, Congenital ocular coloboma, Congenital Pectus Excavatum, Corneal neovascularization, Cornelia De Lange Syndrome, Coronary artery disease, Crohn Disease, Cryptorchidism, Dental Enamel Hypoplasia, Developmental Delay, Developmental disability, Developmental regression, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Nephropathy, Diabetic neuropathy, Diffuse Lymphoma, Digeorge syndrome, Dislocated radial head, Duane Retraction Syndrome, Dwarfism, Dysmorphic Features, Dysmorphism, Endometrial Cancer, Endometrial carcinoma, Endometrial hyperplasia, Endometrial neoplasm, Endometrial Neoplasms, Epidermodysplasia verruciformis, Epilepsy, Esophageal Carcinoma, Esophagus Neoplasm, Facial dysmorphism, Facioscapulohumeral Muscular Dystrophy, Fatty Liver, Frontal bossing, Frontotemporal dementia, Gastroesophageal reflux disease, Glaucoma, Glioblastoma, Glioma, Glomerulonephritis, Growth disorder, Heart disease, Heart valve disease, Hematologic neoplasm, Hematologic Neoplasms, Hematological Disease, Hematopoietic Neoplasms, Hemolytic anemia, Hepatoblastoma, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Hereditary nonpolyposis colorectal cancer, High palate, Hirschsprung Disease, Hyperglycemia, Hyperinsulinism, Hypertrophic cardiomyopathy, Hypoplasia of the maxilla, Hypospadias, Hypoxia, Impaired Cognition, Inflammatory bowel disease, Ischemic stroke, Kawasaki disease, Kidney disease, Kidney failure, Kidney neoplasm, Language development disorders, Laryngomalacia, Learning disorders, Legg-Calve-Perthes Disease, Leiomyosarcoma Of Uterus, Leukemia, Lip and Oral Cavity Carcinoma, Liposarcoma, Liver carcinoma, Liver Cirrhosis, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Lupus nephritis, Lymphatic Metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Maffucci Syndrome, Malformation of cortical development, Malignant Neoplasm, Malignant neoplasm of mouth, Mammary Neoplasms, Marfan Syndrome, Medulloblastoma, Mental Depression, Mental retardation, Microcephaly, Micrognathism, Microstomia, Mirror Movements, Mixed Phenotype Leukemia, Monocytic Leukemia, Mouth neoplasm, Movement Disorders, Multicystic renal dysplasia, Multiple Congenital Anomalies, Multiple myeloma, Myasthenia gravis, Myelodysplastic Syndrome, Myeloid Leukemia, Myeloproliferative disorder, Nasopharyngeal Carcinoma, Neoplasms, Neural tube defect, Neuroblastoma, Osteoarthritis Of Hip, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Pancreatitis, Papillary cystadenoma of the epididymis, Papillary thyroid cancer, Parietal Foramina, Parkinson disease, Patent ductus arteriosus, Peripheral nervous system disease, Pituitary neoplasm, Polydactyly, Primary Tethered cord syndrome, Promyelocytic Leukemia, Proptosis, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Psychotic disorders, Ptosis, Pulmonary Fibrosis, Renal Carcinoma, Renal cell carcinoma, Rett Syndrome, Rheumatoid arthritis, Rothmund-Thomson Syndrome, Rubinstein-Taybi Syndrome, Sarcoidosis, Sarcoma, Scleroderma, Scoliosis, Skin cancer, Sleep Apnea, Small cell carcinoma, Spina bifida occulta, Split hand foot deformity, Stereotyped Behavior, Stevens-Johnson Syndrome, Stomach Carcinoma, Stomach Neoplasms, Strawberry Nevus Of Skin, Stress Disorder, Syndactyly, Synovial sarcoma, Systemic lupus erythematosus, Systemic sclerosis, T-Cell Lymphoma, T-Cell Lymphoma/Leukemia, Thrombocytopenia, Thyroid cancer, Trichohepatoenteric Syndrome, Triple negative breast cancer, Triple Negative Breast Neoplasms, Ulcerative colitis, Urinary bladder cancer, Uterine cervix neoplasm, Uterine neoplasm, Vascular ring, Ventricular septal defect
|
723
|
|
|
EP300 antisense RNA 1 |
- |
Curated: N/A
Unreviewed: Colorectal Cancer, Development Disorder, Dysmorphism, Malformation of cortical development, Rubinstein-Taybi Syndrome, Schizophrenia
|
724
|
|
|
E1A binding protein p400 |
CAGH32, P400, TNRC12 |
Curated: Metabolic syndrome, Neurodevelopmental disorder, Diabetes mellitus type 2
Unreviewed: Borderline personality disorder, Breast neoplasm, Carcinogenesis, Carcinoma, Colorectal Cancer, Complete Atrioventricular Block, Leukemia, Liver carcinoma, Malignant Neoplasm, Meningioma, Merkel cell carcinoma, Multiple Sclerosis, Neoplasms, Nervous System Diseases, Peripheral Neuropathy, Renal Carcinoma, Retinoblastoma, Squamous cell carcinoma
|
725
|
|
|
EP400 pseudogene 1 |
EP400NL |
Curated: N/A
Unreviewed: Colorectal neoplasm
|
726
|
|
|
Endothelial PAS domain protein 1 |
ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73 |
Curated: Atrial fibrillation, Secondary polycythemia, Carcinogenesis, Hepatocellular carcinoma, Renal cell carcinoma, Clear cell renal cell carcinoma, Craniofacial microsomia, Erythrocytosis, Interstitial lung disease, Kidney cancer, Polycythemia, Sarcoidosis
Unreviewed: Ablepharon macrostomia syndrome, Adenocarcinoma, Adrenal Gland Pheochromocytoma, Age-related macular degeneration, Anemia, Aortic Valve Insufficiency, Arteriosclerosis, Arthritis, Astrocytoma, Atherosclerosis, B-Cell Lymphoma, Biliary Atresia, Bladder carcinoma, Bladder Neoplasm, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Capillary infantile hemangioma, Carcinoma, Carney Triad, Cartilage disease, Cerebral Ischemia, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Cholestasis, Chondrosarcoma, Choriocarcinoma, Chromophobe Carcinoma, Chronic Obstructive Pulmonary Disease, Chuvash Erythrocytosis, Colitis, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Complete Atrioventricular Block, Congenital Chromosomal Disease, Congenital diaphragmatic hernia, Congenital heart defect, Congenital Heart Disease, Congenital heart septal defect, Coronary Arteriosclerosis, Coronary Heart Disease, Crohn disease, Dermatitis, Dermatologic Disorders, Diabetes mellitus, type 2, Down Syndrome, Ductal carcinoma of breast, Eczema, Endometrial neoplasm, Erythroblastic Leukemia, Esophagitis, Extrahepatic Biliary Atresia, Eye abnormalities, Fatty Liver, Gastric Cancer, Gastroesophageal reflux disease, Gastrointestinal stromal tumor, Glioblastoma, Glioma, Harlequin Ichthyosis, Hashimoto Disease, Head and neck cancer, Head and neck neoplasm, Head And Neck Neoplasms, Headache, Heart Failure, Hemangioblastoma, Hepatitis b, Hereditary Paraganglioma-Pheochromocytoma Syndromes, High Altitude Pulmonary Edema, Hypertension, Hypertensive Nephropathy, Hypoxia, Ichthyosis, Idiopathic pulmonary fibrosis, Infertility, Inflammatory Bowel Disease, Intervertebral Disc Degeneration, Iron deficiency anemia, Iron Overload, Ischemic Stroke, Juvenile arthritis, Kaposi Sarcoma, Keratoconus, Kidney Cancer, Kidney Disease, Kidney Failure, Kidney Neoplasm, Knee osteoarthritis, Laryngeal carcinoma, Laryngeal neoplasm, Leukemia, Liposarcoma, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver disease, Liver Fibrosis, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung neoplasms, Lymphatic metastasis, Lymphoma, Malignant Histiocytoma, Malignant Neoplasm, Mammary Neoplasms, MASS syndrome, Medulloblastoma, Melanoma, Melas syndrome, Meningioma, Mesothelioma, Metabolic Diseases, Metabolic syndrome, Mitochondrial disease, Monocytic Leukemia, Mountain sickness, Multiple Endocrine Neoplasia, Multiple myeloma, Multiple Paragangliomas Associated With Polycythemia, Multiple renal cysts, Multiple Sclerosis, Myeloid Leukemia, Myocardial infarction, Myocardial Ischemia, Nasal polyposis, Necrosis, Neoplasms, Neuroblastoma, Neuroendocrine Tumors, Neurofibromatosis, Neurofibrosarcoma, Non-Alcoholic Fatty Liver Disease, Obesity, Oligodendroglioma, Open angle glaucoma, Osteoarthritis, Osteopenia, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic Neoplasm, Pancreatitis, Papillary Renal Carcinoma, Papillary thyroid cancer, Papillary thyroid carcinoma, Paraganglioma, Patent ductus arteriosus, Peptic Esophagitis, Peripheral arterial disease, Pheochromocytoma, Polycystic ovary syndrome, Polycythemia, primary familial and congenital, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Psoriasis, Pulmonary arterial hypertension, Pulmonary edema, Pulmonary Emphysema, Pulmonary Hypertension, Rectal Carcinoma, Renal Carcinoma, Renal fibrosis, Renal Glomerular Disease, Renal Insufficiency, Respiratory Distress Syndrome, Retinal detachment, Retinopathy, Retinopathy of prematurity, Rh deficiency syndrome, Rhabdomyosarcoma, Rheumatoid arthritis, Sarcoma, Sickle cell anemia, Squamous cell carcinoma, Steroid Sulfatase Deficiency Disease, Stomach Carcinoma, Stomach disease, Stomach Neoplasms, Syndromic microphthalmia, Thrombosis, Thyroid cancer, Thyroid Carcinoma, Thyroid disease, Tongue carcinoma, Triple Negative Breast Neoplasms, Ulcerative colitis, Urinary bladder cancer, Uterine cervix neoplasm, Uterine neoplasm, Varicose veins, Ventricular hypertrophy, Ventricular remodeling, Von Hippel-Lindau Syndrome, Vulval varices
|
727
|
|
|
Erythrocyte membrane protein band 4.1 |
4.1R, EL1, HE |
Curated: Hereditary elliptocytosis, Gout, Melanoma, Non-melanoma skin carcinoma, Amyotrophic lateral sclerosis
Unreviewed: Anemia, Brain neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cholelithiasis, Dilated cardiomyopathy, Elliptocytosis, Ependymoma, Frontal bossing, Hereditary Elliptocytosis, Hereditary pyropoikilocytosis, Hydrops Fetalis, Hyperbilirubinemia, Leukemia, Leukocyte adhesion deficiency, Liver carcinoma, Malocclusion, Meningioma, Multiple sclerosis, Neoplasms, Neuroblastoma, Prostatic neoplasm, Spherocytosis, Squamous cell carcinoma
|
728
|
|
|
Erythrocyte membrane protein band 4.1 like 1 |
4.1N, MRD11 |
Curated: Alzheimer disease, Atrial fibrillation, Nonsyndromic intellectual disability, Basal cell carcinoma, Biliary tract cancer, Breast cancer, Cancer, Cervical cancer, Chromosome 20q11-q12 deletion syndrome, Colorectal cancer, Neurodevelopmental disorder, Cutaneous squamous cell carcinoma, Endometrial cancer, Esophageal cancer, Estrogen-receptor negative breast cancer, Gastric cancer, Hepatocellular carcinoma, Intellectual developmental disorder, Keratinocyte carcinoma, Lung cancer, Melanoma, Metabolic syndrome, Non-hodgkins lymphoma, Non-melanoma skin carcinoma, Non-specific syndromic intellectual disability, Ovarian cancer, Ovarian serous carcinoma, Pancreatic cancer, Prostate cancer, Scoliosis, Squamous cell carcinoma, Diabetes mellitus type 2, complex neurodevelopmental disorder
Unreviewed: Glioblastoma, Mental retardation, Non-Syndromic Intellectual Disability, Prostatic neoplasm, Schizophrenia
|
729
|
|
|
EPB41L1 antisense RNA 1 |
- |
Curated: N/A
Unreviewed: N/A
|
730
|
|
|
Erythrocyte membrane protein band 4.1 like 2 |
4.1-G, 4.1G |
Curated: Androgenetic alopecia, Breast cancer, Gastric cancer, Gout, Migraine, Nephrolithiasis, Neurotic disorder, Prostate cancer, Stomach neoplasms, Urolithiasis
Unreviewed: Breast Cancer, Breast Carcinoma, Breast neoplasm, Heart failure, Lung neoplasms
|