|
1141
|
|
|
DNA polymerase delta 3, accessory subunit |
IMD122, P66, P68, PPP1R128 |
|
|
1142
|
|
|
Ceramide synthase 1 |
EPM8, GDF-1, GDF1, LAG1, LASS1, UOG1 |
Action myoclonus-renal failure syndrome, Asplenia, Congenital heart defects, Dementia, Dentatorubral pallidoluysian atrophy, Double outlet right ventricle, Heterotaxia, Inclusion-body disease, May-white syndrome, Mental retardation, Myoclonic epilepsy, Progressive myoclonic epilepsy, Seizure, Tetralogy of fallot, Transposition of great vessels |
|
1143
|
|
|
T-box brain transcription factor 1 |
AUTS5, IDDAS, TBR-1, TES-56 |
2q24 microdeletion syndrome, Autism, Cataract, Congenital ocular coloboma, Cortical dysplasia, Cortical occipital malformations, Developmental delay, Hypoplastic hippocampus, Intellectual developmental disorder with autism and speech delay, Mental retardation, Microphthalmos, Hypotonia, Neurodevelopmental disorders, Occipital pachygyria and polymicrogyria, Sleep apnea, Social communication disorder, Stereotyped behavior, Syndactyly of the toesView all (3 more) |
|
1144
|
|
|
Adaptor related protein complex 4 subunit beta 1 |
BETA-4, CPSQ5, SPG47 |
Breast carcinoma, Cerebellar atrophy, Cerebral cortical atrophy, Developmental dysplasia of the hip, Congenital genu recurvatum, Developmental delay, Dwarfism, Dysarthria, Dysmorphic features, High palate, Hypoplasia of corpus callosum, Mental retardation, Macrostomia, Mental retardation with spastic paraplegia, Microcephaly, Hypotonia, Spastic paraplegia, Stereotyped behavior, StrabismusView all (4 more) |
|
1145
|
|
|
Neuregulin 3 |
HRG3, pro-NRG3 |
|
|
1146
|
|
|
Cofilin 1 |
CFL, HEL-S-15, cofilin |
|
|
1147
|
|
|
Solute carrier family 12 member 7 |
KCC4 |
|
|
1148
|
|
|
Nuclear factor of activated T cells 5 |
NF-AT5, NFATL1, NFATZ, OREBP, TONEBP |
|
|
1149
|
|
|
Cofilin 2 |
NEM7 |
Arthrogryposis multiplex congenita, Atrial fibrillation, Breast cancer, Congenital pectus excavatum, Developmental delay, High palate, Micrognathism, Minicore myopathy with external ophthalmoplegia, Myofibrillar myopathy, Myopathy, Nemaline myopathy, Hypotonia, Paroxysmal atrial fibrillation, Ptosis, Scoliosis |
|
1150
|
|
|
YME1 like 1 ATPase |
FTSH, MEG4, OPA11, PAMP, YME1L |
Brain atrophy, Cerebellar hypoplasia, Cerebral atrophy, Developmental delay, Dwarfism, Hearing loss, Hyperopia, Leukoencephalopathy, Macrocephaly, Macrotia, Mental retardation, Microcephaly, Myopia, Optic atrophy, Strabismus |
