|
471
|
|
|
Transmembrane protein 237 |
ALS2CR4, JBTS14 |
Agenesis of corpus callosum, Arima syndrome, Autism, Cerebellar vermis agenesis, Ciliopathies, Congenital cerebral hernia, Congenital coloboma of iris, Congenital epicanthus, Congenital ocular coloboma, Dandy-walker syndrome, Developmental delay, Disorder of eye, Fundus coloboma, Hirschsprung disease, Hydrocephalus, Hypertension, Mental retardation, Joubert syndrome, Joubert syndrome with oculorenal defect, Joubert syndrome with renal defect, Kidney disease, Lung carcinoma, Malformation of cortical development, Meckel-gruber syndrome, Microphthalmos, Morning glory anomaly, Nystagmus, Oculomotor apraxia, Oculovestibuloauditory syndrome, Oral cleft, Polydactyly, Polydactyly of toes, Polymicrogyria, Posteriorly rotated ear, Ptosis, Renal cyst, Renal insufficiency, Retinal coloboma, Retinal dystrophy, Scoliosis, Situs inversus, StrabismusView all (27 more) |
|
472
|
|
|
Transmembrane protein 135 |
PMP52 |
|
|
473
|
|
|
Transmembrane protein 108 |
CT124, RTLN |
|
|
474
|
|
|
Trafficking kinesin protein 2 |
ALS2CR3, CALS-C, GRIF-1, GRIF1, MILT2, OIP98 |
|
|
475
|
|
|
- |
- |
Congenital alveolar dysplasia, Cardiomyopathy, Cerebral cortical atrophy, Merrf syndrome, Mitochondrial diseases, Mitochondrial myopathy, Myopathy, Ovarian neoplasm, Parkinson disease, Progressive external ophthalmoplegia, Renal insufficiency, Secondary physiologic amenorrhea |
|
476
|
|
|
- |
- |
Amyotrophy, Breast cancer, Cardiovascular abnormalities, Cataract, Cerebellar ataxia, Congestive heart failure, Delirium, Dementia, Developmental delay, Diabetes and hearing loss, Diabetes mellitus, Disorder of skeletal muscle, Distal lower limb amyotrophy, Dysarthria, External ophthalmoplegia, Hearing loss, High palate, Hypertension, Hypertrophic cardiomyopathy, Macroglossia, Age-related macular degeneration, Malabsorption syndrome, Melas syndrome, Mental retardation, Mitochondrial diseases, Mitochondrial myopathy, Mitochondrial myopathy with diabetes, Myopathy, Hypotonia, Peripheral axonal neuropathy, Renal glomerular disease, Renal insufficiency, Retinal diseases, Schizophrenia, Sternocleidomastoid amyotrophyView all (20 more) |
|
477
|
|
|
- |
- |
Addison`s disease, Anorexia, Anxiety disorder, Aortic aneurysm, Aortic dissection, Aphasia, Arthrogryposis multiplex congenita, Attention deficit hyperactivity disorder, Autism, Cataract, Cerebral cortical atrophy, Congestive heart failure, Developmental regression, Diabetes mellitus, Dwarfism, Dysarthria, Gastroparesis, Hallucinations, Hearing loss, Heart block, Hematomas, Hemianopsia, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypoparathyroidism, Hypopituitarism, Hypothyroidism, Ichthyosis, Impaired cognition, Intestinal obstruction, Malabsorption syndrome, Malformation of cortical development, Melas syndrome, Mental depression, Merrf syndrome, Merrf/melas overlap syndrome, Microcephaly, Migraine, Mitochondrial myopathy, Movement disorders, Multiple lipomata, Myoclonic seizures, Myopathy, Nephrotic syndrome, Nyctalopia, Optic atrophy, Pancreatitis, Psychosis, Ptosis, Pulmonary arterial hypertension, Renal glomerular disease, Renal insufficiency, Seizure, Thyroiditis, Wolff-parkinson-white syndromeView all (41 more) |
|
478
|
|
|
- |
- |
|
|
479
|
|
|
- |
- |
|
|
480
|
|
|
- |
- |
Cardiomyopathy, Cataract, Central visual impairment, Congestive heart failure, Dementia, Demyelinating neuropathy, Developmental regression, Diabetes and hearing loss, Diabetes mellitus, Dwarfism, Dyskinetic syndrome, Dysphagia, Epileptic encephalopathy, External ophthalmoplegia, Febrile seizures, Hearing loss, Hemianopsia, Hypertension, Hypertrophic cardiomyopathy, Impaired cognition, Left ventricular hypertrophy, Leigh syndrome, Liver failure, Age-related macular degeneration, Malabsorption syndrome, Maternally inherited leigh syndrome, Melas syndrome, Merrf syndrome, Merrf/melas overlap syndrome, Migraine, Mitochondrial diseases, Mitochondrial dna depletion syndrome, Mitochondrial myopathy, Movement disorders, Multiple lipomata, Myoclonic seizures, Myopathy, Nervous system diseases, Nystagmus, Optic atrophy, Parkinson disease, Progressive external ophthalmoplegia, Renal glomerular disease, Renal insufficiency, Retinal diseases, Retinitis pigmentosa, Rod-cone dystrophy, Seizure, Sensorimotor neuropathy, Sensorineural hearing loss, West syndrome, Wolff-parkinson-white syndromeView all (37 more) |
