|
1061
|
|
|
Protein O-mannosyltransferase 1 |
LGMD2K, LGMDR11, MDDGA1, MDDGB1, MDDGC1, RT |
Absence of septum pellucidum, Acquired kyphoscoliosis, Agenesis of corpus callosum, Agyria, Alpha-dystroglycanopathy, Amyotrophy, Anterior segment dysgenesis, Autism, Cardiomyopathy, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Cobblestone lissencephaly, Congenital clubfoot, Congenital coloboma of iris, Congenital contracture, Congenital hypoplasia of penis, Congenital keratoglobus, Congenital kyphoscoliosis, Congenital meningocele, Congenital microcephaly, Congenital muscular dystrophy, Congenital muscular dystrophy with cerebellar involvement, Congenital muscular dystrophy with intellectual disability, Congenital muscular dystrophy without intellectual disability, Congenital ocular coloboma, Cryptorchidism, Dandy-walker syndrome, Developmental delay, Facial paralysis, Fukuyama type congenital muscular dystrophy, Glaucoma, Glaucoma, congenital, Hemiplegia/hemiparesis, Holoprosencephaly, Hydrocephalus, Hypoplasia of corpus callosum, Hypoplasia of the optic nerve, Impaired cognition, Imperforate anus, Mental retardation, Left ventricular hypertrophy, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, Macrocephaly, Macroglossia, Meningoencephalocele, Microcephaly, Microcornea, Microphthalmos, Microtia, Motor delay, Muscle eye brain disease, Muscular dystrophy, Muscular dystrophy-dystroglycanopathy, Myopathy, Myopia, Hypotonia, Neuronal heterotopia, Occipital encephalocele, Optic atrophy, Pachygyria, Penis agenesis, Polymicrogyria, Posteriorly rotated ear, Renal dysplasia, Respiratory failure, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Retinitis pigmentosa, Scoliosis, Specific learning disorder, Speech disorders, Strabismus, Submucosal cleft palate, Syndromic microphthalmia, Walker-warburg congenital muscular dystrophy, Walker-warburg syndromeView all (66 more) |
|
1062
|
|
|
Mab-21 like 2 |
MCOPS14, MCSKS14 |
Cataract, Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Congenital anomaly of eye, Congenital epicanthus, Congenital ocular coloboma, Microphthalmia/coloboma and skeletal dysplasia syndrome, Microphthalmos, Nystagmus, Rheumatoid arthritis, Strabismus, Syndromic microphthalmia |
|
1063
|
|
|
Thioredoxin reductase 2 |
GCCD5, SELZ, TR, TR-BETA, TR3, TRXR2, TXNR2 |
Anorexia, Azoospermia, Cardiomyopathy, Congenital hypothyroidism, Cryptorchidism, Dilated cardiomyopathy, Glaucoma, Glucocorticoid deficiency, Hearing loss, Hypernatriuria, Hypertrophic cardiomyopathy, Hypoglycemic coma, Hypoglycemic seizures, Lipoatrophy, Lipodystrophy, Mental retardation, Myopathy, Palmoplantar keratoderma, Precocious puberty, Prostatic neoplasms, Prostate cancer, Quadriplegia, Open angle glaucoma, Testicular adrenal rest tumorView all (9 more) |
|
1064
|
|
|
Methenyltetrahydrofolate synthetase |
HsT19268, NEDMEHM |
Cerebellar atrophy, Developmental delay, Dwarfism, Dysautonomia, Dyscognitive seizures, Epilepsy, Esotropia, Hypotonic seizures, Microcephaly, Salaam seizures, Seizure |
|
1065
|
|
|
DR1 associated protein 1 |
NC2-alpha |
|
|
1066
|
|
|
Secretagogin, EF-hand calcium binding protein |
CALBL, DJ501N12.8, SECRET, SEGN, setagin |
|
|
1067
|
|
|
Structural maintenance of chromosomes 2 |
CAP-E, CAPE, SMC-2, SMC2L1 |
|
|
1068
|
|
|
Pre-mRNA processing factor 8 |
HPRP8, PRP8, PRPC8, RP13, SNRNP220 |
Cataract, Congenital hypoplasia of penis, Diabetes mellitus, Disorder of eye, Glaucoma, Hearing loss, Hyperinsulinism, Hypogonadism, Ischemic stroke, Keratoconus, Mental retardation, Nyctalopia, Nystagmus, Obesity, Optic atrophy, Retinal dystrophy, Retinitis pigmentosa, Rod-cone dystrophy, StrokeView all (4 more) |
|
1069
|
|
|
Solute carrier organic anion transporter family member 1B1 |
HBLRR, LST-1, LST1, OATP-C, OATP1B1, OATP2, OATPC, SLC21A6 |
|
|
1070
|
|
|
Centromere protein C |
CENP-C, CENPC1, MIF2, hcp-4 |
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