|
511
|
|
|
ADAM metallopeptidase domain 11 |
MDC |
|
|
512
|
|
|
ARVCF delta catenin family member |
- |
22q11 deletion syndrome, 22q11 partial monosomy syndrome, 22q11.2 deletion syndrome, Acne, Acrocephaly, Alzheimer disease, Anxiety disorder, Arachnodactyly, Arrhinencephaly, Arthritis, Asthma, Asymmetric crying face association, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Bipolar disorder, Bowel incontinence, Cataract, Choanal atresia, Cholelithiasis, Chronic obstructive pulmonary disease, Congenital clubfoot, Congenital epicanthus, Congenital exomphalos, Congenital hypoplasia of thymus, Congenital malrotation of intestine, Conotruncal anomaly face syndrome, Corneal neovascularization, Cryptorchidism, Developmental delay, Digeorge syndrome, Dwarfism, Dysphasia, Gastroesophageal reflux disease, Glaucoma, Hearing loss, Hirschsprung disease, Hydrocephalus, Hyperthyroidism, Hypoparathyroidism, Hypospadias, Hypothyroidism, Immunologic deficiency syndromes, Imperforate anus, Laryngomalacia, Major affective disorder, Mental depression, Mental retardation, Microcephaly, Micrognathism, Microphthalmos, Microstomia, Multiple renal cysts, Myelomeningocele, Myocardial infarction, Obesity, Optic atrophy, Otitis media, Patent ductus arteriosus, Persistent truncus arteriosus, Platybasia, Polycystic kidney disease, Polydactyly of toes, Posterior embryotoxon, Ptosis, Renal hypoplasia, Schizophrenia, Scoliosis, Seborrheic dermatitis, Shprintzen syndrome, Specific learning disorder, Strabismus, Tetralogy of fallot, Tricuspid atresia, Uterine anomalies, Ventricular septal defect, Vesicoureteral reflux, Vulval varicesView all (63 more) |
|
513
|
|
|
N-acylsphingosine amidohydrolase 1 |
AC, ACDase, ASAH, PHP, PHP32, SMAPME |
Arthritis, Atrial fibrillation, Cerebral cortex myoclonus, Dementia, Developmental delay, Distal muscular atrophy, Dwarfism, Epilepsy, Erdheim-chester disease, Facial paralysis, Farber disease, Hearing loss, Hydrops fetalis, Jankovic rivera syndrome, Laryngomalacia, Lipogranuloma, Lipoidosis, Mental retardation, Motor delay, Myoclonic seizures, Nystagmus, Oropharyngeal dysphagia, Osteoporosis, Paroxysmal atrial fibrillation, Pulmonary fibrosis, Schizophrenia, Scoliosis, Speech disorders, Spinal muscular atrophy, Spinal muscular atrophy-myoclonic epilepsy syndromeView all (15 more) |
|
514
|
|
|
Ataxin 3 |
AT3, ATX3, JOS, MJD, MJD1, SCA3 |
Amyotrophic lateral sclerosis, Cerebellar ataxia, Cerebellar atrophy, Degeneration of the striatum, Dementia, Distal amyotrophy, Distal lower limb amyotrophy, Dysarthria, Dysphagia, Dyssomnia, External ophthalmoplegia, Machado-joseph disease, Mental depression, Nervous system diseases, Neurogenic urinary bladder, Nystagmus, Parkinson disease, Peripheral axonal neuropathy, Progressive external ophthalmoplegia, Proptosis, Ptosis, Sleep disorders, Spinocerebellar degeneration, Supranuclear ophthalmoplegia, Vocal cord paralysisView all (10 more) |
|
515
|
|
|
Achaete-scute family bHLH transcription factor 1 |
ASH1, HASH1, MASH1, bHLHa46 |
Cardiovascular abnormalities, Congenital central hypoventilation, Dysautonomia, Ganglioneuroblastoma, Ganglioneuroma, Gastroesophageal reflux disease, Haddad syndrome, Hearing loss, Hirschsprung disease, Mental retardation, Lung carcinoma, Mouth abnormalities, Nervous system disorder, Neuroblastoma, Posteriorly rotated ear, Sleep apnea, StrabismusView all (2 more) |
|
516
|
|
|
ALF transcription elongation factor 1 |
AF4, FEL, MLLT2, PBM1 |
|
|
517
|
|
|
Acetylcholinesterase (Yt blood group) |
ACEE, ARACHE, N-ACHE, YT |
Alzheimer disease, Amyloidosis, Anemia, Urinary bladder cancer, Bladder neoplasm, Breast cancer, Mammary neoplasms, Breast carcinoma, Chromophobe carcinoma, Clonic seizures, Hypotonic seizures, Jacksonian seizure, Learning disorders, Marfan syndrome, Memory disorders, Age-related memory disorders, Movement disorders, Muscular dystrophy, Nervous system disorder, Obesity, Papillary renal carcinoma, Prostatic neoplasms, Prostate cancer, Renal carcinoma, Schizophrenia, Seizure, Senile dementia, Status marmoratusView all (13 more) |
|
518
|
|
|
Achaete-scute family bHLH transcription factor 2 |
ASH2, HASH2, MASH2, bHLHa45 |
|
|
519
|
|
|
Afadin, adherens junction formation factor |
AF6, MLL-AF6, MLLT4, l-afadin |
|
|
520
|
|
|
Aldehyde dehydrogenase 6 family member A1 |
MMSADHA, MMSDH |
Cataract, Congenital epicanthus, Developmental delay, Disorder of amino acid metabolism, Frontal bossing, High palate, Hypoplasia of corpus callosum, Inherited errors of amino acid metabolism, Methylmalonate semialdehyde dehydrogenase deficiency, Microcephaly, Microphthalmos, Myocardial ischemia, Obesity |
