|
1211
|
|
|
Calcium voltage-gated channel subunit alpha1 G |
Ca(V)T.1, Cav3.1, NBR13, SCA42, SCA42ND |
Alzheimer disease, Spinocerebellar ataxia, Brainstem atrophy, Cerebellar atrophy, Cerebellar hypoplasia, Clinodactyly, Developmental delay, Dysarthria, Dysphagia, Erectile dysfunction, Horizontal nystagmus, Hyperopia, Impaired cognition, Mental retardation, Malocclusion, Mental depression, Oculomotor apraxia, Oculovestibuloauditory syndrome, Psoriasiform eczema, Scoliosis, Spastic ataxia, Spinocerebellar ataxia, with neurodevelopmental deficits, Strabismus, SyndactylyView all (9 more) |
|
1212
|
|
|
- |
- |
Addison`s disease, Wolff-parkinson-white syndrome, Anorexia, Anxiety disorder, Aortic aneurysm, Aortic dissection, Aphasia, Arthrogryposis multiplex congenita, Attention deficit hyperactivity disorder, Autism, Cataract, Central visual impairment, Cerebral cortical atrophy, Congestive heart failure, Cytochrome-c oxidase deficiency, Dementia, Developmental regression, Diabetes mellitus, Dwarfism, Dysarthria, Epilepsy, Epileptic encephalopathy, Gastroparesis, Hallucinations, Hearing loss, Heart block, Hematomas, Hemianopsia, Hereditary leber optic atrophy, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypoparathyroidism, Hypopituitarism, Hypothyroidism, Ichthyosis, Intestinal obstruction, Left ventricular hypertrophy, Leigh syndrome, Malabsorption syndrome, Malformation of cortical development, Melas syndrome, Mental depression, Microcephaly, Migraine, Mitochondrial encephalopathy, Mitochondrial myopathy, Multiple lipomata, Myopathy, Nephrotic syndrome, Nervous system diseases, Nyctalopia, Optic atrophy, Pancreatitis, Polyneuropathy, Psychosis, Ptosis, Pulmonary arterial hypertension, Renal glomerular disease, Renal insufficiency, Retinal telangiectasia, Seizure, Sensorineural hearing loss, Tetralogy of fallot, Thyroiditis, Ventricular preexcitationView all (51 more) |
|
1213
|
|
|
- |
- |
Addison`s disease, Anorexia, Anxiety disorder, Aortic aneurysm, Aortic dissection, Aphasia, Arthrogryposis multiplex congenita, Attention deficit hyperactivity disorder, Autism, Cataract, Central visual impairment, Cerebral cortical atrophy, Colorectal cancer, Congestive heart failure, Cytochrome-c oxidase deficiency, Dementia, Developmental regression, Diabetes mellitus, Dwarfism, Dysarthria, Epileptic encephalopathy, Gastroparesis, Hallucinations, Hearing loss, Heart block, Hematomas, Hemianopsia, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypoparathyroidism, Hypopituitarism, Hypothyroidism, Ichthyosis, Intestinal obstruction, Left ventricular hypertrophy, Malabsorption syndrome, Malformation of cortical development, Melas syndrome, Mental depression, Microcephaly, Migraine, Mitochondrial diseases, Mitochondrial myopathy, Multiple lipomata, Myopathy, Nephrotic syndrome, Neuroblastoma, Nyctalopia, Optic atrophy, Pancreatitis, Psychosis, Ptosis, Pulmonary arterial hypertension, Renal glomerular disease, Renal insufficiency, Seizure, Sensorineural hearing loss, Tetralogy of fallot, Thyroiditis, Wolff-parkinson-white syndromeView all (46 more) |
|
1214
|
|
|
- |
- |
Wolff-parkinson-white syndrome, Breast cancer, Central visual impairment, Colorectal cancer, Congestive heart failure, Dementia, Diabetes mellitus, Epileptic encephalopathy, Hemianopsia, Hereditary leber optic atrophy, Histiocytoid cardiomyopathy, Hypertension, Left ventricular hypertrophy, Leigh syndrome, Melas syndrome, Migraine, Mitochondrial encephalomyopathy, Mitochondrial myopathy, Myopathy, Nervous system diseases, Optic atrophy, Ovarian neoplasm, Polyneuropathy, Retinal telangiectasia, Seizure, Sensorineural hearing loss, Ventricular preexcitationView all (12 more) |
|
1215
|
|
|
- |
- |
Addison`s disease, Anaplastic carcinoma, Wolff-parkinson-white syndrome, Anorexia, Anxiety disorder, Aortic aneurysm, Aortic dissection, Aphasia, Arthrogryposis multiplex congenita, Attention deficit hyperactivity disorder, Autism, Carcinoma, Cardiomyopathy, Cataract, Central visual impairment, Cerebral cortical atrophy, Colorectal cancer, Congestive heart failure, Cytochrome-c oxidase deficiency, Deafness, nonsyndromic sensorineural, mitochondrial, Dementia, Developmental regression, Diabetes mellitus, Dwarfism, Dysarthria, Epileptic encephalopathy, Gastroparesis, Hallucinations, Hearing loss, Heart block, Hematomas, Hemianopsia, Hereditary leber optic atrophy, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypoparathyroidism, Hypopituitarism, Hypothyroidism, Ichthyosis, Intestinal obstruction, Left ventricular hypertrophy, Malabsorption syndrome, Malformation of cortical development, Melas syndrome, Mental depression, Microcephaly, Migraine, Mitochondrial myopathy, Multiple lipomata, Myocardial diseases, Myopathy, Nephrotic syndrome, Nervous system diseases, Nyctalopia, Optic atrophy, Palmoplantar keratoderma with deafness, Pancreatitis, Psychosis, Ptosis, Pulmonary arterial hypertension, Renal glomerular disease, Renal insufficiency, Retinal telangiectasia, Seizure, Sensorineural hearing loss, Tetralogy of fallot, Thyroiditis, Ventricular preexcitationView all (54 more) |
|
1216
|
|
|
Cyclin D2 |
KIAK0002, MPPH3 |
Aqueductal stenosis, Cardiovascular diseases, Cirrhosis, Colonic neoplasms, Colorectal adenoma, Colorectal cancer, Colorectal neoplasms, Communicating hydrocephalus, Congenital hydrocephalus, Developmental delay, Diabetes mellitus, Dysmorphic features, Fetal cerebral ventriculomegaly, Hydrocephalus, Hydrocephalus ex-vacuo, Leukemia, Lung neoplasms, Lung cancer, Lung carcinoma, Macrocephaly, Malignant neoplasm, Megalanecephaly polymicrogyria-polydactyly hydrocephalus syndrome, Megalencephaly, polymicrogyria, polydactyly, hydrocephalus syndrome, Microstomia, Movement disorders, Multiple congenital anomalies, Myeloid leukemia, Myocardial ischemia, Obstructive hydrocephalus, Ovarian neoplasm, Ovarian cancer, Perisylvian syndrome, Polydactyly, Polymicrogyria, Postaxial polydactyly, Prostatic neoplasms, Prostate cancer, Schizophrenia, Postaxial hand polydactyly, Ventricular septal defectView all (25 more) |
|
1217
|
|
|
Cyclin D3 |
- |
|
|
1218
|
|
|
Cholinergic receptor nicotinic alpha 6 subunit |
CHNRA6 |
|
|
1219
|
|
|
Cyclin E1 |
CCNE, pCCNE1 |
Urinary bladder cancer, Bladder neoplasm, Breast cancer, Mammary neoplasms, Breast carcinoma, Carcinoma of the head and neck, Liver carcinoma, Malignant neoplasm, Marfan syndrome, Medulloblastoma, Medullomyoblastoma, Ovarian neoplasm, Ovarian cancer, Ovarian carcinoma |
|
1220
|
|
|
CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion |
CHRNA7, CHRNA7-DR1, D-10, NACHRA7 |
|
