|
641
|
|
|
Protein kinase AMP-activated catalytic subunit alpha 1 |
AMPK, AMPK alpha 1, AMPKa1 |
|
|
642
|
|
|
Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
GNTI.2, GnT I.2, LGMD2O, LGMDR15, MEB, MGAT1.2, RP76, gnT-I.2 |
Absence of septum pellucidum, Agenesis of corpus callosum, Alpha-dystroglycanopathy, Cardiomyopathy, Cataract, Cerebellar hypoplasia, Cobblestone lissencephaly, Congenital coloboma of iris, Congenital hypoplasia of penis, Congenital keratoglobus, Congenital meningocele, Congenital muscular dystrophy, Congenital muscular dystrophy with cerebellar involvement, Congenital ocular coloboma, Cryptorchidism, Dandy-walker syndrome, Developmental delay, Diabetes mellitus, Dysmorphic features, Fukuyama type congenital muscular dystrophy, Glaucoma, Glaucoma, congenital, Hearing loss, Hemiplegia/hemiparesis, Holoprosencephaly, Hydrocephalus, Hyperinsulinism, Hypogonadism, Hypoplasia of the optic nerve, Hypoplasia of the retina, Impaired cognition, Mental retardation, Keratoconus, Limb-girdle muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, Macrocephaly, Macroglossia, Microcephaly, Microcornea, Micrognathism, Microphthalmos, Motor delay, Muscle eye brain disease, Muscular dystrophy, Muscular dystrophy-dystroglycanopathy, Myopathy, Myopia, Neuronal heterotopia, Nyctalopia, Nystagmus, Obesity, Occipital encephalocele, Optic atrophy, Pachygyria, Polymicrogyria, Posteriorly rotated ear, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Retinitis pigmentosa, Specific learning disorder, Speech disorders, Strabismus, Submucosal cleft palate, Syndromic microphthalmia, Walker-warburg congenital muscular dystrophy, Walker-warburg syndromeView all (52 more) |
|
643
|
|
|
Protein kinase AMP-activated catalytic subunit alpha 2 |
AMPK, AMPK2, AMPKa2, PRKAA |
|
|
644
|
|
|
Protein kinase AMP-activated non-catalytic subunit beta 1 |
AMPK, HAMPKb |
|
|
645
|
|
|
Phosphatidylinositol glycan anchor biosynthesis class V |
GPI-MT-II, HPMRS1, PIG-V |
Accessory nipple, Autism, Brachycephaly, Cerebral cortical atrophy, Clinodactyly, Congenital anomaly of rectum, Congenital epicanthus, Congenital heart defects, Congenital pectus excavatum, Developmental delay, Esotropia, Hearing loss, High palate, Hirschsprung disease, Hydronephrosis, Hyperopia, Hyperphosphatasia with mental retardation, Mental retardation, Malocclusion, Micrognathism, Oculomotor apraxia, Oculovestibuloauditory syndrome, Plagiocephaly, Posteriorly rotated ear, Scoliosis, SeizureView all (11 more) |
|
646
|
|
|
Protein kinase cAMP-activated catalytic subunit alpha |
CAFD1, PKACA, PPNAD4 |
Acne, Adrenal cancer, Adrenal neoplasia, Adrenal hyperplasia, Alopecia, Atrophy, Cholangiocarcinoma, Congenital adrenal hyperplasia, Diabetes mellitus, Dwarfism, Hepatocellular carcinoma, Hypercortisolism, Hypertension, Hypogonadism, Intrahepatic cholangiocarcinoma, Mental depression, Mood swings, Myopathy, Non-alcoholic fatty liver disease, Osteopenia, Osteoporosis, Pigmented nodular adrenocortical diseaseView all (7 more) |
|
647
|
|
|
Protein kinase cAMP-activated catalytic subunit beta |
CAFD2, PKA C-beta, PKACB |
|
|
648
|
|
|
Peroxisomal biogenesis factor 26 |
PBD7A, PBD7B, PEX26M1T, Pex26pM1T |
Addison`s disease, Adrenoleukodystrophy, Adrenomyeloneuropathy, Amelogenesis imperfecta, Atrial fibrillation, Cardiomyopathy, Cataract, Congenital clubfoot, Congenital epicanthus, Cryptorchidism, Deafness enamel hypoplasia nail defects, Dental enamel hypoplasia, Developmental delay, Developmental regression, Dolichocephaly, Dwarfism, Facial paralysis, Glaucoma, Hearing loss, High palate, Hydronephrosis, Hypertrophy of clitoris, Hypospadias, Ichthyosis, Impaired cognition, Infantile refsum disease, Lissencephaly, Liver failure, Macrocephaly, Malabsorption syndrome, Malformation of cortical development, Microcephaly, Micrognathism, Multicystic renal dysplasia, Hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Osteochondrodysplasia, Patent ductus arteriosus, Patent foramen ovale, Zellweger syndrome, Polymicrogyria, Polymicrogyria with optic nerve hypoplasia, Posterior embryotoxon, Posteriorly rotated ear, Ptosis, Refsum disease, Retinal dystrophy, Rod-cone dystrophy, Skeletal dysplasia, Strabismus, Ventricular septal defect, Zellweger-like syndromeView all (39 more) |
|
649
|
|
|
Protein phosphatase 4 regulatory subunit 3A |
FLFL1, KIAA2010, MSTP033, PP4R3, PP4R3A, SMEK1, smk-1, smk1 |
|
|
650
|
|
|
Protein kinase cAMP-activated catalytic subunit gamma |
BDPLT19, KAPG, PKACg |
|
