2041
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Atrophin 1 |
B37, CHEDDA, D12S755E, DRPLA, HRS, NOD |
Curated: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, Dentatorubral pallidoluysian atrophy, Schizophrenia, X-linked hydrocephalus syndrome
Unreviewed: 11p11.2 Deletion Syndrome, Action Myoclonus-Renal Failure Syndrome, Acute Myeloid Leukemia, Adenocarcinoma, Adrenoleukodystrophy, Aggressive Periodontitis, Allergic rhinitis, Alveolar Sarcoma, Alzheimer disease, Anemia, Ankylosing Spondylitis, Antisocial Personality Disorder, Aphthous Ulcer, Arteriosclerosis, Arthritis, Asthma, Astrocytoma, Atherosclerosis, Atrial Fibrillation, Autoimmune Diabetes, Autoimmune Diseases, Autoimmune hepatitis, Autoimmune Thyroiditis, B-Cell Lymphoma, Benign Myoclonic Epilepsy, Biliary Cirrhosis, Bladder carcinoma, Bladder Neoplasm, Blau syndrome, Blepharospasm, Bone Disease, Bone neoplasms, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Brugada Syndrome, Burkitt`s Lymphoma, C3 Deficiency, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Carcinosarcoma, Cardiomyopathy, Cardiovascular Abnormalities, Central Visual Impairment, Cerebellar Ataxia, Cerebral Atrophy, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Charge syndrome, Cholesteatoma, Choreoathetosis, Chronic obstructive pulmonary disease, CNS Disorder, Cognition disorder, Colitis, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal Neoplasms, Combined Immunodeficiency, X-Linked, Complete Atrioventricular Block, Congenital Epicanthus, Congenital heart defect, Congenital Long QT Syndrome, Crohn Disease, Cryopyrin-Associated Periodic Syndromes, Cryptorchidism, Cystic Fibrosis, Dementia, Dentatorubral Pallidoluysian Atrophy, Developmental and epileptic encephalopathy, Developmental Delay, Developmental disability, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Nephropathy, Diffuse Lymphoma, Down Syndrome, Dysarthria, Dysphagia, DYSTROPHIC EPIDERMOLYSIS BULLOSA, Encephalitis, Endometrial Cancer, Endometrial carcinoma, Epilepsy, Esophageal Cancer, Esophageal Carcinoma, Esophagus Neoplasm, Fatty Liver, Friedreich Ataxia, Gastritis, Gastroesophageal Reflux Disease, Glioblastoma, Glioma, Glomerulonephritis, Graft-Vs-Host Disease, Granulomatous Disease, Graves Disease, Hashimoto Disease, Hearing Loss, Heart Septal Defects, Hematologic Neoplasms, Hematopoietic Neoplasms, Hepatorenal Syndrome, Hodgkin Disease, Hodgkin Lymphoma, Holt-Oram Syndrome, Huntington Disease, Huntington Disease-Like, Hyperglycemia, Hyperinsulinism, Hyperuricemia, Hypoplasia Of Corpus Callosum, Immunodeficiency, Immunologic Deficiency Syndromes, Inclusion-Body Disease, Inflammatory Bowel Disease, Intellectual developmental disorder, Intestinal Diseases, Kaposi Sarcoma, Keratoconjunctivitis Sicca, Kidney Disease, Kidney Failure, Leigh Syndrome, Leiomyoma, Leiomyosarcoma Of Uterus, Leukemia, Leukodystrophy, Liver carcinoma, Liver Cirrhosis, Liver disease, Liver Fibrosis, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lupus Erythematosus, Lupus Nephritis, Lupus Vulgaris, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoid leukemia, Lymphoma, Lymphopenia, Lymphoproliferative Disorder, Machado-Joseph Disease, Malignant lymphoma, lymphocytic, intermediate differentiation, Malignant Neoplasm, Malignant Neoplasm Of Testis, Mammary Neoplasms, Mantle Cell Lymphoma, May-White Syndrome, Melanoma, Mental Depression, Mental retardation, Merkel cell carcinoma, Metabolic Diseases, Microcephaly, Monocytic Leukemia, Muckle-Wells Syndrome, Mucopolysaccharidosis, Multicystic renal dysplasia, Multiple myeloma, Multiple Sclerosis, Multiple Trichoepithelioma, Myasthenia Gravis, MYD88 Deficiency, Myelodysplastic Syndrome, Myelofibrosis, Myeloid Leukemia, Myelomonocytic Leukemia, Myeloproliferative disorder, Myocardial Infarction, Myocarditis, Myoclonic Epilepsy, Myositis, Myotonic dystrophy, Nasopharyngeal Carcinoma, Neoplasms, Nephritis, Nephroblastoma, Neurilemmoma, Neuroblastoma, Neurodegenerative Disorders, Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart, Neuroferritinopathy, Neurofibromatosis, Neurological, Cutaneous And Articular Syndrome, Non-Alcoholic Fatty Liver Disease, Nuchal Bleb, Nystagmus, Obesity, Oligodendroglioma, Orofaciodigital syndrome, Osteosarcoma, Otitis media, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian Failure, Ovarian neoplasm, Pachyonychia Congenita, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic Neoplasm, Pancreatitis, Parkinson disease, Peeling Skin Syndrome, Periodontitis, Peritoneal Carcinomatosis, Peritoneal Fibrosis, Pleuropulmonary blastoma, Polyarthritis, Polycystic kidney disease, Polycystic Ovary Syndrome, Polycythemia Vera, Polymicrogyria, Posteriorly Rotated Ear, Promyelocytic Leukemia, Prostate cancer, Prostatic Neoplasms, Psoriasis, Psoriatic Arthritis, Renal Carcinoma, Renal fibrosis, Renal Insufficiency, Renal tubular necrosis, Retinitis Pigmentosa, Rheumatoid arthritis, Sarcoma, Schwartz-Jampel Syndrome, Scleroderma, Scoliosis, Seizures, Senile Dementia, Severe combined immunodeficiency disease, Sex Differentiation Disorders, Spinocerebellar Ataxia, Stomach Carcinoma, Stomach Neoplasms, Syndromic microphthalmia, T-cell leukemia, T-Cell Lymphoma/Leukemia, Teratoma, Thyroid hemiagenesis, Thyroiditis, Triple Negative Breast Neoplasms, Ulcerative colitis, Urinary bladder cancer, Uterine Fibroids, Uveal Melanoma, Uveitis, Vascular Diseases, Vasculitis, Ventricular septal defect, Vitiligo, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS
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2049
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Atonal bHLH transcription factor 1 |
ATH1, DFNA89, HATH1, MATH-1, bHLHa14 |
Curated: Colorectal adenoma, Colorectal cancer, Deafness, Global developmental delay, Hearing loss, Medulloblastoma, Pontocerebellar hypoplasia, Schizophrenia, Diabetes mellitus type 2, Uterine fibroid
Unreviewed: Adenocarcinoma, Anemia, Arteriosclerosis, Ataxia, Atherosclerosis, Barrett esophagus, Carcinogenesis, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Gastrointestinal stromal tumor, Hearing Loss, Intestinal disease, Liver carcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Malformation of cortical development, Malignant Neoplasm, Medullomyoblastoma, Merkel cell carcinoma, Mucinous Adenocarcinoma, Myocardial Infarction, Myoclonic epilepsy, Myoclonic epilepsy with ragged red fibers, Neoplasms, Neurodegenerative disorder, Neuroendocrine Tumors, Parkinson disease, Prostatic neoplasm, Respiratory Failure, Rheumatoid arthritis, Small cell lung carcinoma, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Ulcerative colitis
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2050
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Atonal bHLH transcription factor 7 |
Math5, NCRNA, PHPVAR, RNANC, bHLHa13 |
Curated: Alzheimer disease, Anterior segment dysgenesis, Congenital cataract microcornea with corneal opacity, Open angle glaucoma
Unreviewed: Angle Closure Glaucoma, Autism, Cataract, Cataract-microcornea syndrome, Congenital Cataract Microcornea With Corneal Opacity, Congenital ocular coloboma, Corneal opacity, Esotropia, Eye abnormalities, Eye disease, Glaucoma, Glaucoma, congenital, Hyperplasia, Hypertension, Hypoplasia Of The Optic Nerve, Keratoconus, Leukocoria, Low Tension Glaucoma, Microcornea, Microphthalmos, Nystagmus, Optic nerve aplasia, Optic nerve hypoplasia, Pendular nystagmus, PERSISTENT FETAL VASCULATURE, Persistent Hyperplastic Primary Vitreous, Persistent Pupillary Membranes, Phthisis bulbi, Retinal detachment, Retinal Diseases, Retinal nonattachment, Schizophrenia, Segment dysgenesis, Synechiae, Vascular disease
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