|
611
|
|
|
Abelson helper integration site 1 |
AHI-1, JBTS3, ORF1, dJ71N10.1 |
Agenesis of corpus callosum, Anxiety disorder, Autism, Cataract, Cerebellar diseases, Cerebellar vermis agenesis, Ciliopathies, Classical hodgkin lymphoma, Congenital cerebral hernia, Congenital coloboma of iris, Congenital epicanthus, Congenital hypoplasia of penis, Developmental delay, Dextrocardia, Diabetes mellitus, Disorder of eye, Eczema, Fundus coloboma, Glaucoma, Hearing loss, Hirschsprung disease, Hodgkin disease, Hydrocephalus, Hyperinsulinism, Hypogonadism, Immunoglobulin a deficiency, Mental retardation, Joubert syndrome, Joubert syndrome with ocular defect, Keratoconus, Kidney disease, Leber congenital amaurosis, Leukemia, Lupus erythematosus, Multiple sclerosis, Nephronophthisis, Nephrotic syndrome, Nystagmus, Obesity, Oculomotor apraxia, Oculovestibuloauditory syndrome, Optic atrophy, Oral cleft, Polydactyly, Polydactyly of toes, Polymicrogyria, Ptosis, Respiratory tract diseases, Retinal coloboma, Retinal dystrophy, Retinitis pigmentosa, Schizophrenia, Scoliosis, Selective immunoglobulin a deficiency, Situs inversus, Sleep apnea, Strabismus, Ventricular septal defectView all (43 more) |
|
612
|
|
|
Asporin |
OS3, PLAP-1, PLAP1, SLRR1C |
|
|
613
|
|
|
Aprataxin |
AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT |
Amyotrophic lateral sclerosis, Ataxia-oculomotor apraxia, Cerebellar atrophy, Choreoathetosis, Dementia, Distal amyotrophy, Dysarthria, Dyskinetic syndrome, Hypercholesterolemia, Hypoalbuminemia, Impaired cognition, Nervous system diseases, Nystagmus, Oculomotor apraxia, Oculovestibuloauditory syndrome, Progressive external ophthalmoplegia, Scoliosis, Spinocerebellar ataxiaView all (3 more) |
|
614
|
|
|
Rho guanine nucleotide exchange factor 38 |
- |
|
|
615
|
|
|
Ankyrin repeat and KH domain containing 1 |
MASK, MASK1, PP2500, VBARP |
|
|
616
|
|
|
AU RNA binding methylglutaconyl-CoA hydratase |
- |
3-methylglutaconic aciduria, Cerebellar ataxia, Cerebral atrophy, Developmental delay, Dysarthria, Dysmorphic features, Febrile seizures, Hypoglycemia, Impaired cognition, Leukoencephalopathy, Microcephaly, Motor delay, Optic atrophy, Spastic quadriplegia, Spastic tetraparesis |
|
617
|
|
|
ADP-ribosylserine hydrolase |
ADPRHL2, ARH3, CONDSIAS |
|
|
618
|
|
|
Acid phosphatase 3 |
5'-NT, ACP-3, ACPP, TM-PAP |
|
|
619
|
|
|
Autophagy related 16 like 1 |
APG16L, ATG16A, ATG16L, IBD10, WDR30 |
Ankylosing spondylitis, Arthritis, Asthma, Autoimmune diseases, Autoimmune thyroiditis, Celiac disease, Cholangitis, Common variable immunodeficiency, Crohn disease, Crohn`s disease of large bowel, Crohn`s disease of the ileum, Diabetes mellitus, Ileocolitis, Inflammatory bowel disease, Lupus erythematosus, Multiple sclerosis, Psoriasis, Ulcerative colitisView all (3 more) |
|
620
|
|
|
Arginine vasopressin |
ADH, ARVP, AVP-NPII, AVRP, VP |
Amnesia, Autism, Bipolar disorder, Cardiomyopathy, Congestive heart failure, Cruveilhier-baumgarten syndrome, Diabetes insipidus, Heart failure, Hereditary central diabetes insipidus, Hypertension, Kidney failure, Lung carcinoma, Memory disorders, Age-related memory disorders, Mental depression, Myocardial diseases, Myocardial infarction, Osteopenia, Portal hypertension, Psychosis, Acute kidney insufficiency, Schizoaffective disorder, Schizophrenia, Schizophreniform disorders, Shy-drager syndromeView all (10 more) |
