501
|
|
|
ARF like GTPase 3 |
ARFL3, JBTS35, RP83 |
Asteroid hyalosis, Cataract, Cerebellar vermis agenesis, Congenital cerebral hernia, Congenital coloboma of iris, Congenital hypoplasia of penis, Developmental delay, Diabetes mellitus, Glaucoma, Hearing loss, Hirschsprung disease, Hydrocephalus, Hydronephrosis, Hyperinsulinism, Hypogonadism, Joubert syndrome, Keratoconus, Mental retardation, Multicystic renal dysplasia, Nyctalopia, Nystagmus, Obesity, Oculomotor apraxia, Oculovestibuloauditory syndrome, Optic atrophy, Oral cleft, Polydactyly of toes, Polymicrogyria, Ptosis, Retinitis pigmentosa, Rod-cone dystrophy, Schizophrenia, Scoliosis, Situs inversus, Strabismus, Subcapsular cataractView all (21 more) |
502
|
|
|
ANKHD1-EIF4EBP3 readthrough |
MASK-BP3, MASK-BP3ARF |
|
503
|
|
|
Aryl hydrocarbon receptor nuclear translocator |
ARNT1, HIF-1-beta, HIF-1beta, HIF1-beta, HIF1B, HIF1BETA, TANGO, bHLHe2 |
|
504
|
|
|
Arrestin 3 |
ARRX, MYP26, cArr |
|
505
|
|
|
Arrestin beta 1 |
ARB1, ARR1 |
|
506
|
|
|
Arrestin beta 2 |
ARB2, ARR2, BARR2 |
|
507
|
|
|
Acid sensing ion channel subunit 1 |
ACCN2, ASIC, BNaC2 |
|
508
|
|
|
Arylsulfatase A |
ASA, MLD |
Arylsulfatase a deficiency, Bowel incontinence, Bulbar palsy, Cholecystitis, Delusions, Dementia, Developmental regression, Dysarthria, Neoplasm of gallbladder, Hallucinations, Leukodystrophy, Mental depression, Mental retardation, Metachromatic leukodystrophy, Mood swings, Optic atrophy, Pseudoarylsulfatase a deficiency, Quadriplegia, Schizophrenia, Sensorineural hearing loss, Spastic quadriplegiaView all (6 more) |
509
|
|
|
Arylsulfatase B |
ASB, G4S, MPS6 |
Cardiomyopathy, Cervical myelopathy, Congenital exomphalos, Dolichocephaly, Epiphyseal dysplasia, Glaucoma, Hydrocephalus, Macrocephaly, Macroglossia, Metachromatic leukodystrophy, Mucopolysaccharidosis, Pfaundler-hurler syndrome |
510
|
|
|
Arylsulfatase L |
ARSE, ASE, CDPX, CDPX1, CDPXR |
|