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301
|
|
|
Ezrin |
CVIL, CVL, HEL-S-105, VIL2 |
Absence of septum pellucidum, Anaplastic carcinoma, Arthritis, Autism, Carcinoma, Central visual impairment, Cerebral atrophy, Cortical dysplasia, Developmental delay, Dyskinetic syndrome, Dyssomnia, Hypoplasia of corpus callosum, Mental retardation, Mental depression, Microcephaly, Motor delay, Non-syndromic intellectual disability, Osteoarthrosis deformans, Polymicrogyria, Prostatic neoplasms, Prostate cancer, Salaam seizures, Seizure, Sleep disorders, Stereotyped behaviorView all (10 more) |
|
302
|
|
|
Ecotropic viral integration site 5 |
EVI-5, NB4S |
|
|
303
|
|
|
ELOVL fatty acid elongase 6 |
FACE, FAE, LCE, hELO2 |
|
|
304
|
|
|
EPM2A glucan phosphatase, laforin |
EPM2, MELF, MELF2 |
Absence seizure, Action myoclonus-renal failure syndrome, Apraxia, Bilateral convulsive seizures, Brain atrophy, Cerebral atrophy, Dementia, Dentatorubral pallidoluysian atrophy, Dysarthria, Dyscognitive seizures, Dyssomnia, Epilepsy, Glycogen storage disease, Hypotonic seizures, Inclusion-body disease, Lafora disease, Liver failure, May-white syndrome, Mental depression, Mood swings, Myoclonic epilepsy, Myoclonic seizures, Narcolepsy, Partial occipital seizures, Psychosis, Seizure, Sleep disorders, Status epilepticus, Visual aurasView all (14 more) |
|
305
|
|
|
EPS8 signaling adaptor L3 |
EPS8R3, HYPT5, MUHH2 |
|
|
306
|
|
|
Elongation factor like GTPase 1 |
EFTUD1, FAM42A, HsT19294, RIA1, SDS2 |
Anemia, Aphthous ulcer, Aplastic anemia, Asthma, Congenital pectus carinatum, Developmental delay, Diabetes mellitus, Dwarfism, Eczema, Exocrine pancreatic insufficiency, High palate, Ichthyosis, Leukemia, Malabsorption syndrome, Mental retardation, Microcephaly, Microdontia, Myelodysplasia, Myelodysplastic syndrome, Myopia, Neutropenia, Osteopenia, Pancytopenia, Scoliosis, Shwachman syndrome, Shwachman-diamond syndrome, Specific learning disorder, Strudwick syndromeView all (13 more) |
|
307
|
|
|
E2F transcription factor 8 |
E2F-8 |
|
|
308
|
|
|
Euchromatic histone lysine methyltransferase 1 |
EHMT1-IT1, EUHMTASE1, Eu-HMTase1, FP13812, GLP, GLP1, KLEFS1, KMT1D |
Absence of septum pellucidum, Agenesis of corpus callosum, Anxiety disorder, Aortic coarctation, Aortic valve insufficiency, Aortic valve sclerosis, Aphasia, Autism spectrum disorder, Autism, Brachycephaly, Brachydactyly, Breast cancer, Camptodactyly of fingers, Cerebral cortical hemiatrophy, Cholesteatoma, Congenital hypoplasia of penis, Conotruncal defect, Cryptorchidism, Developmental delay, Dysmorphic features, Dysphasia, Dyssomnia, Fatty liver, Heart septal defects, Hernia, femoral, Hydronephrosis, Hyperopia, Hypoplasia of thumb, Hypospadias, Mental retardation, Kleefstra syndrome, Macroglossia, Malocclusion, Medulloblastoma, Medullomyoblastoma, Mental depression, Microcephaly, Myopia, Neurogenic urinary bladder, Obesity, Obsessive-compulsive disorder, Otitis media, Ovarian cysts, Penis agenesis, Polymicrogyria, Renal insufficiency, Sacroiliac arthritis, Salaam seizures, Schizophrenia, Sinus tachycardia, Skeletal dysplasia, Sleep disorders, Specific learning disorder, Spinal stenosis of lumbar region, Status epilepticus, Stereotyped behavior, Strabismus, Subcortical cerebral atrophy, Synophrys, Tetralogy of fallot, Vesicoureteral refluxView all (46 more) |
|
309
|
|
|
Epoxide hydrolase 3 |
ABHD9, EH3 |
|
|
310
|
|
|
Endoplasmic reticulum metallopeptidase 1 |
FXNA, KIAA1815, bA207C16.3 |
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