|
931
|
|
|
Poly(ADP-ribose) polymerase family member 10 |
ARTD10 |
|
|
932
|
|
|
Protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
AGO61, C3orf39, GTDC2, MDDGA8, MDDGC8 |
Absence of septum pellucidum, Agenesis of corpus callosum, Alpha-dystroglycanopathy, Cataract, Cerebellar hypoplasia, Cobblestone lissencephaly, Congenital coloboma of iris, Congenital hypoplasia of penis, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, Cryptorchidism, Dandy-walker syndrome, Developmental delay, Fukuyama type congenital muscular dystrophy, Glaucoma, Hydrocephalus, Leukemia, Limb-girdle muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, Macrocephaly, Mental retardation, Microcephaly, Microcornea, Microphthalmos, Muscle eye brain disease, Muscular dystrophy, Muscular dystrophy-dystroglycanopathy, Optic atrophy, Pachygyria, Polymicrogyria, Posteriorly rotated ear, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Specific learning disorder, Submucosal cleft palate, Syndromic microphthalmia, Walker-warburg congenital muscular dystrophy, Walker-warburg syndromeView all (23 more) |
|
933
|
|
|
Plexin domain containing 2 |
PLXDC2-OT, TEM7R |
|
|
934
|
|
|
Protein phosphatase 1 regulatory subunit 15B |
CREP, MSSGM2 |
Acquired kyphoscoliosis, Congenital kyphoscoliosis, Congenital pectus excavatum, Dwarfism, Dysarthria, Hypodontia, Mental retardation, Microcephaly, Microcephaly, short stature, and impaired glucose metabolism, Microcephaly-mild intellectual disability diabetes syndrome, Oligodontia |
|
935
|
|
|
Serine protease 12 |
BSSP-3, BSSP3, MRT1 |
Absence of septum pellucidum, Autism, Central visual impairment, Cerebral atrophy, Cortical dysplasia, Developmental delay, Dyskinetic syndrome, Dyssomnia, Hypoplasia of corpus callosum, Mental retardation, Mental depression, Microcephaly, Motor delay, Non-syndromic intellectual disability, Nystagmus, Polymicrogyria, Salaam seizures, Seizure, Sleep disorders, Stereotyped behavior, StrabismusView all (6 more) |
|
936
|
|
|
Protein phosphatase, Mg2+/Mn2+ dependent 1D |
IDDGIP, JDVS, PP2C-DELTA, WIP1 |
Anxiety disorder, Attention deficit hyperactivity disorder, Autism, Brachydactyly, Brain stem neoplasms, Breast cancer, Mammary neoplasms, Breast carcinoma, Developmental delay, Dwarfism, Dysmorphic features, Gastroesophageal reflux disease, Glioma, Hereditary breast cancer, Hyperopia, Macrostomia, Marfan syndrome, Medullary neoplasms, Mental retardation, Mesencephalic neoplasms, Multiple congenital anomalies, Neurodevelopmental disorders, Obsessive-compulsive disorder, Pontine tumors, Posteriorly rotated ear, StrabismusView all (11 more) |
|
937
|
|
|
PWWP domain containing 3A, DNA repair factor |
EXPAND1, HSPC211, MUM-1, MUM1 |
|
|
938
|
|
|
PPFIB scaffold protein 2 |
Cclp1 |
|
|
939
|
|
|
PPFIB scaffold protein 1 |
L2, NEDSMBA, SGT2, hSGT2, hSgt2p |
|
|
940
|
|
|
PPFI scaffold protein A4 |
- |
|
