|
341
|
|
|
Gulonolactone (L-) oxidase, pseudogene |
GULO, SCURVY |
|
|
342
|
|
|
G protein signaling modulator 2 |
CMCS, DFNB82, LGN, PINS |
|
|
343
|
|
|
Glucuronidase beta |
BG, MPS7 |
Cardiomyopathy, Congenital arteriovenous malformation, Congenital clubfoot, Developmental dysplasia of the hip, Congenital exomphalos, Congenital pectus carinatum, Dwarfism, Hydrocephalus, Hydrops fetalis, Macrocephaly, Mental retardation, Mucopolysaccharidosis, Nervous system disorder, Pfaundler-hurler syndrome, Scoliosis |
|
344
|
|
|
Glycogenin 1 |
GSD15, GYG |
Bundle branch block, Cardiomyopathy, Glycogen storage disease, Glycogen storage disease with severe cardiomyopathy, Myocardial ischemia, Polyglucosan body myopathy, Ventricular arrhythmia, Ventricular fibrillation, Ventricular hypertrophy, Ventricular septal hypertrophy, Ventricular tachycardia |
|
345
|
|
|
GDP-mannose pyrophosphorylase B |
LGMDR19, MDDGA14, MDDGB14, MDDGC14 |
Agenesis of corpus callosum, Alpha-dystroglycanopathy, Cardiomyopathy, Cataract, Cerebellar hypoplasia, Cerebral cortical atrophy, Cobblestone lissencephaly, Congenital keratoglobus, Congenital meningocele, Congenital muscular dystrophy, Congenital muscular dystrophy with cerebellar involvement, Congenital muscular dystrophy with intellectual disability, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, Congenital myasthenic syndromes with glycosylation defect, Congenital ocular coloboma, Cryptorchidism, Developmental delay, Esotropia, Facial paralysis, Fukuyama type congenital muscular dystrophy, Glaucoma, Hearing loss, Hemiplegia/hemiparesis, High palate, Holoprosencephaly, Hydrocephalus, Hypoplasia of corpus callosum, Hypoplasia of the optic nerve, Impaired cognition, Mental retardation, Limb muscle atrophy, Limb-girdle muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, Macroglossia, Microcephaly, Microphthalmos, Motor delay, Multiple congenital anomalies, Muscle eye brain disease, Muscular dystrophy, Muscular dystrophy-dystroglycanopathy, Myasthenia gravis, Myasthenic syndrome, Myopathy, Myopia, Neuronal heterotopia, Nystagmus, Occipital encephalocele, Optic atrophy, Penis agenesis, Polymicrogyria, Ptosis, Respiratory failure, Retinal detachment, Retinitis pigmentosa, Scoliosis, Speech disorders, Strabismus, Walker-warburg congenital muscular dystrophyView all (45 more) |
|
346
|
|
|
GDP-mannose pyrophosphorylase A |
AAMR |
Achalasia, Alacrima, Alacrima, achalasia, and mental retardation syndrome, Congenital coloboma of iris, Developmental delay, Developmental regression, Dwarfism, Dysphagia, Glucocorticoid deficiency with achalasia, Hearing loss, Hypopituitarism, Mental retardation, Microcephaly, Optic atrophy, Palmoplantar keratoderma, Triple a syndromeView all (1 more) |
|
347
|
|
|
Glycophorin A (MNS blood group) |
CD235a, GPA, GPErik, GPSAT, HGpMiV, HGpMiXI, HGpSta(C), MN, MNS, PAS-2 |
|
|
348
|
|
|
Glycophorin C (Gerbich blood group) |
CD236, CD236R, GE, GPC, GPD, GYPD, PAS-2, PAS-2' |
|
|
349
|
|
|
Glycophorin E (MNS blood group) |
GPE, GYPA, MNS, MiIX |
|
|
350
|
|
|
Glycogen synthase 1 |
GSY, GYS |
|
