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751
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|
SKI proto-oncogene |
SGS, SKV |
1p36 deletion syndrome, Acrania, Agenesis of corpus callosum, Anencephaly, Aneurysm of aortic arch, Annular pancreas, Aortic aneurysm, Arachnodactyly, Arnold-chiari malformation, Autism, Brachycephaly, Brachydactyly, Camptodactyly of fingers, Cardiomyopathy, Cataract, Cerebral cortical atrophy, Communicating hydrocephalus, Congenital anomaly of neck, Congenital camptodactyly, Congenital epicanthus, Congenital exomphalos, Rib fusion, Congenital genu recurvatum, Congenital hypoplasia of penis, Congenital musculoskeletal anomalies, Congenital pectus carinatum, Congenital pectus excavatum, Cranial nerve paralysis, Craniorachischisis, Craniosynostosis, Cryptorchidism, Developmental delay, Diastematomyelia, Dolichocephaly, Dwarfism, Dysmorphic features, Dysphagia, Fatty liver, Frontal bossing, Gastroesophageal reflux disease, Hearing loss, Heart septal defects, Hemiplegia/hemiparesis, High palate, Hydronephrosis, Hypogonadism, Hypoplasia of the maxilla, Hypospadias, Hypothyroidism, Mental retardation, Microcephaly, Micrognathism, Microstomia, Microtia, Mitral valve prolapse, Multiple congenital anomalies, Myopathy, Myopia, Neural tube defect, Neurenteric cyst, Neuroblastoma, Nystagmus, Obesity, Ocular albinism, Optic atrophy, Osteopenia, Patent ductus arteriosus, Polydactyly of toes, Posteriorly rotated ear, Primary tethered cord syndrome, Proptosis, Ptosis, Renal cyst, Schinzel-giedion syndrome, Scoliosis, Shprintzen-goldberg syndrome, Spinal cord myelodysplasia, Stereotyped behavior, Strabismus, Tetralogy of fallot, Thoracic aortic aneurysm and aortic dissectionView all (66 more) |
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752
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SKI like proto-oncogene |
SNO, SnoA, SnoI, SnoN |
|
|
753
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|
Solute carrier family 26 member 6 |
- |
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754
|
|
|
S-phase kinase associated protein 2 |
FBL1, FBXL1, FLB1, p45 |
|
|
755
|
|
|
Src like adaptor |
SLA1, SLAP |
|
|
756
|
|
|
Signaling lymphocytic activation molecule family member 1 |
CD150, CDw150, IPO3, SLAM |
|
|
757
|
|
|
Solute carrier family 1 member 1 |
DCBXA, EAAC1, EAAT3, SCZD18, hEAAC1 |
Autism spectrum disorder, Bipolar disorder, Clonic seizures, Cognitive disorder, Cortical dysplasia, Endometrioma, Endometriosis, Epilepsy, Epileptic encephalopathy, Hot water reflex epilepsy, Hypotonic seizures, Jacksonian seizure, Low tension glaucoma, Malformation of cortical development, Mental depression, Mental retardation, Nephrolithiasis, Schizophrenia, SeizureView all (4 more) |
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758
|
|
|
Solute carrier family 1 member 2 |
DEE41, EAAT2, EIEE41, GLT-1, GLT1, HBGT |
Acquired kyphoscoliosis, Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis with dementia, Attention deficit hyperactivity disorder, Autism, Bipolar disorder, Cerebral atrophy, Congenital kyphoscoliosis, Developmental delay, Developmental regression, Diabetes mellitus, Dwarfism, Dyskinetic syndrome, Epilepsy, Epileptic encephalopathy, Gastric cancer, Gastroesophageal reflux disease, Hypodontia, Hypoplasia of corpus callosum, Mental depression, Mental retardation, Microcephaly, Mood disorder, Non-specifi epileptic encephalopathy, Nystagmus, Optic atrophy, Ptosis, Schizophrenia, Status epilepticus, Stomach neoplasms, Tremor, VitiligoView all (17 more) |
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759
|
|
|
Solute carrier family 1 member 3 |
EA6, EAAT1, GLAST, GLAST1 |
Alternating hemiplegia, Anhedonia, Autism, Bipolar disorder, Cerebellar atrophy, Cerebellar hypoplasia, Dysarthria, Epilepsy, Episodic ataxia, Migraine, Motor delay, Nystagmus, Schizophrenia |
|
760
|
|
|
Solute carrier family 4 member 3 |
AE3, CAE3/BAE3, SLC2C, SQT7 |
|
