671
|
|
|
Alanyl-tRNA synthetase 2, mitochondrial |
AARSL, COXPD8, LKENP, MT-ALARS, MTALARS |
Apraxia, Combined oxidative phosphorylation deficiency, Pulmonary hypoplasia, Dementia, Dysarthria, Dysmorphic features, Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia, Hereditary diffuse leukoencephalopathy with spheroids, Hydrops fetalis, Hypertrophic cardiomyopathy, Leukoencephalopathy, with ovarian failure, Mental depression, Multiple congenital anomalies, Nystagmus, Ovarioleukodystrophy, Pericardial effusion, Periventricular leukomalacia, Pleural effusion, Premature menopauseView all (4 more) |
672
|
|
|
Rho GTPase activating protein 31 |
AOS, AOS1, CDGAP |
Accessory nipple, Acquired porencephaly, Adams-oliver syndrome, Alopecia, Aortic valve sclerosis, Aplasia cutis congenita, Asthma, Atrial septal defect, Autoimmune diseases, Bicuspid aortic valve, Brachydactyly, Cataract, Celiac disease, Cirrhosis, Congenital arteriovenous malformation, Congenital atresia of pulmonary artery, Congenital cerebral hernia, Congenital clubfoot, Congenital hepatic fibrosis, Cortical dysplasia, Cutis marmorata, Developmental delay, Esophageal varix, Esotropia, Hydrocephalus, Hypertension, Hypoplasia of corpus callosum, Hypoplastic left heart syndrome, Immune system diseases, Leukemia, Leukopenia, Mental retardation, Microcephaly, Microphthalmos, Multiple sclerosis, Pachygyria, Periventricular leukomalacia, Polymicrogyria, Porencephalic cyst, Portal hypertension, Biliary cirrhosis, Pulmonary arterial hypertension, Pulmonary stenosis, Scleroderma, Strabismus, Syndactyly of fingers, Syndactyly of the toes, Talipes, Tetralogy of fallot, Ventricular septal defectView all (35 more) |
673
|
|
|
Alpha kinase 3 |
CMH27, MAK, MIDORI |
|
674
|
|
|
Arrestin domain containing 3 |
TLIMP |
|
675
|
|
|
Rho GTPase activating protein 20 |
RARHOGAP |
|
676
|
|
|
Rho GTPase activating protein 21 |
ARHGAP10 |
|
677
|
|
|
Adhesion G protein-coupled receptor B2 |
BAI2 |
|
678
|
|
|
Rho GTPase activating protein 23 |
- |
|
679
|
|
|
Alsin Rho guanine nucleotide exchange factor ALS2 |
ALS2CR6, ALSJ, IAHSP, PLSJ |
Amyotrophic lateral sclerosis, Anarthria speech disorder, Cerebral cortical atrophy, Distal amyotrophy, Dysarthria, Dysphagia, Lateral sclerosis, Motor delay, Peripheral axonal neuropathy, Quadriplegia, Scoliosis, Sensory neuropathy, Spastic paralysis, Spastic paraplegia, Spastic quadriplegia, Spastic tetraparesisView all (1 more) |
680
|
|
|
Adhesion G protein-coupled receptor B3 |
BAI3 |
|