|
281
|
|
|
Protein O-mannosyltransferase 2 |
LGMD2N, LGMDR14, MDDGA2, MDDGB2, MDDGC2 |
Absence of septum pellucidum, Agenesis of corpus callosum, Agyria, Alpha-dystroglycanopathy, Amyotrophy, Anterior segment dysgenesis, Bundle branch block, Cardiomyopathy, Cataract, Cerebellar hypoplasia, Cerebral cortical atrophy, Cobblestone lissencephaly, Congenital coloboma of iris, Congenital contracture, Congenital hypoplasia of penis, Congenital keratoglobus, Congenital meningocele, Congenital muscular dystrophy, Congenital muscular dystrophy with cerebellar involvement, Congenital muscular dystrophy with 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, Hyperopia, Hypoplasia of corpus callosum, Hypoplasia of the optic nerve, Impaired cognition, Imperforate anus, Mental retardation, 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, 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, Ventricular systolic dysfunction, Walker-warburg congenital muscular dystrophy, Walker-warburg syndromeView all (59 more) |
|
282
|
|
|
Phosphoserine aminotransferase 1 |
EPIP, NLS2, PSA, PSAT, PSATD |
Absence of septum pellucidum, Ambiguous genitalia, Arthrogryposis multiplex congenita, Cataract, Cerebellar hypoplasia, Pulmonary hypoplasia, Congenital microcephaly, Craniosynostosis, Dandy-walker syndrome, Developmental delay, High palate, Hypogonadism, Hypoplasia of corpus callosum, Ichthyosis, Lissencephaly, Lung carcinoma, Lung adenocarcinoma, Macrotia, Microcephaly, Micrognathism, Micromelia, Muscular dystrophy, Neu-laxova syndrome, Osteopenia, Osteoporosis, Pachygyria, Phosphoserine aminotransferase deficiency, Polymicrogyria, Proptosis, Pterygium, Rickets, Salaam seizures, Schizophrenia, Scoliosis, Spastic tetraparesis, Spina bifida, Submucosal cleft palate, Talipes transversoplanus, Trismus, Vertical talusView all (25 more) |
|
283
|
|
|
Paired immunoglobin like type 2 receptor alpha |
FDF03 |
|
|
284
|
|
|
RNA polymerase I subunit H |
A12.2, HTEX-6, HTEX6, Rpa12, TCTEX6, TEX6, ZNRD1, ZR14, hZR14, tctex-6 |
Attention deficit hyperactivity disorder, Bipolar disorder, Coronary heart disease, Development disorder, Diabetes mellitus, Gastric cancer, Lung carcinoma, Lung adenocarcinoma, Lung cancer, Lupus erythematosus, Mental depression, Myasthenia gravis, Schizophrenia, Stomach neoplasms |
|
285
|
|
|
Phosphoinositide-3-kinase regulatory subunit 4 |
VPS15, p150 |
|
|
286
|
|
|
Pseudouridine 5'-phosphatase pseudogene 2 |
FAM16B, HDHD1CP, HDHD1P2 |
|
|
287
|
|
|
Serine protease 53 |
POL3S, UNQ308 |
|
|
288
|
|
|
POLR2M pseudogene 1 |
GCOM2, GLURR2, GRINL1B |
|
|
289
|
|
|
Polycystin 1 like 3, transient receptor potential channel interacting |
- |
|
|
290
|
|
|
Phosphatidylinositol specific phospholipase C X domain containing 3 |
- |
|
