|
521
|
|
|
Agouti signaling protein |
AGSW, AGTI, AGTIL, ASP, SHEP9 |
|
|
522
|
|
|
Argininosuccinate lyase |
ASAL, ASLD |
|
|
523
|
|
|
ATP binding cassette subfamily C member 1 (ABCC1 blood group) |
ABC29, ABCC, DFNA77, GS-X, MRP, MRP1 |
Breast cancer, Mammary neoplasms, Breast carcinoma, Carcinoma of the head and neck, Colorectal cancer, Colorectal neoplasms, Heart diseases, Hypertension, Ischemic stroke, Marfan syndrome, Myocardial infarction, Nervous system diseases, Non-syndromic sensorineural deafness |
|
524
|
|
|
Acetylserotonin O-methyltransferase |
ASMTY, HIOMT, HIOMTY |
|
|
525
|
|
|
Asparagine synthetase (glutamine-hydrolyzing) |
ASNSD, TS11 |
Asparagine synthetase deficiency, Central visual impairment, Cerebellar hypoplasia, Congenital microcephaly-encephalopathy-cerebral atrophy syndrome, Cortical dysplasia, Developmental delay, Diaphragmatic eventration, Epileptic encephalopathy, Hypoplasia of corpus callosum, Lipoidosis, Liver neoplasms, Liver cancer, Macrotia, Micrognathism, Spastic quadriplegia |
|
526
|
|
|
ALG11 alpha-1,2-mannosyltransferase |
CDG1P, GT8 |
|
|
527
|
|
|
Aspartoacylase |
ACY2, ASP |
Aminoacylase deficiency, Brain atrophy, Canavan disease, Central nervous system demyelination, Cerebral atrophy, Developmental delay, Developmental regression, Dysphagia, Dyssomnia, Gastroesophageal reflux disease, Macrocephaly, Mental retardation, Myopia, Nystagmus, Optic atrophy, Seizure, Sleep disordersView all (2 more) |
|
528
|
|
|
Aspartate beta-hydroxylase |
AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin |
|
|
529
|
|
|
Argininosuccinate synthase 1 |
ASS, CTLN1 |
|
|
530
|
|
|
Mitochondrially encoded ATP synthase 6 |
ATPase6, MTATP6 |
Wolff-parkinson-white syndrome, Ataxia and polyneuropathy, Basal ganglia cysts, Bicuspid aortic valve, Cardiomyopathy, Cardiomyopathy, apical hypertrophic and neuropathy, Cerebral cortical atrophy, Charcot-marie-tooth disease, Choreoathetosis, Cleft palate and bilateral cleft lip, Dementia, Demyelinating neuropathy, Developmental delay, Developmental regression, Diabetes mellitus, Dwarfism, Dysarthria, Dyskinetic syndrome, Dysphagia, Gastroesophageal reflux disease, Hearing loss, Hereditary leber optic atrophy, Histiocytoid cardiomyopathy, Horizontal pendular nystagmus, Hypertrophic cardiomyopathy, Mental retardation, Isolated atp synthase deficiency, Leigh syndrome, Liver failure, Maternally inherited leigh syndrome, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial diseases, Mitochondrial myopathy, Mitochondrial spastic paraplegia, Myoclonic seizures, Myopathy, Myopathy, lactic acidosis, and sideroblastic anemia, Nervous system diseases, Neuropathy ataxia and retinis pigmentosa, Nystagmus, Optic atrophy, Periodic paralysis with distal motor neuropathy, Peripheral axonal neuropathy, Polyneuropathy, Retinal diseases, Retinal telangiectasia, Retinitis pigmentosa, Rod-cone dystrophy, Seizure, Sensorimotor neuropathy, Sensory neuropathy, Spastic tetraparesis, Striatonigral degeneration, Postaxial hand polydactyly, Ventricular preexcitation, West syndromeView all (42 more) |
