|
1331
|
|
|
Pim-2 proto-oncogene, serine/threonine kinase |
- |
|
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1332
|
|
|
Beta-1,4-glucuronyltransferase 1 |
B3GN-T1, B3GNT1, B3GNT6, BETA3GNTI, MDDGA13, iGAT, iGNT |
Absence of septum pellucidum, Agenesis of corpus callosum, Alpha-dystroglycanopathy, Anencephaly, Breast cancer, Mammary neoplasms, Breast carcinoma, Cataract, Cerebellar hypoplasia, Cobblestone lissencephaly, Congenital coloboma of iris, Congenital hypoplasia of penis, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, Cortical dysplasia, Cryptorchidism, Dandy-walker syndrome, Developmental delay, Fukuyama type congenital muscular dystrophy, Glaucoma, Hydrocephalus, Hydronephrosis, Limb-girdle muscular dystrophy, Macrocephaly, Marfan syndrome, Mental retardation, Microcephaly, Microcornea, Microphthalmos, Muscle eye brain disease, Muscular dystrophy, Muscular dystrophy-dystroglycanopathy, Neuronal heterotopia, Occipital encephalocele, Optic atrophy, Pachygyria, Penis agenesis, 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 (31 more) |
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1333
|
|
|
Midline 2 |
FXY2, MRX101, RNF60, TRIM1, XLID101 |
Attention deficit hyperactivity disorder, Autism, Developmental delay, Facial paralysis, Neurosensory hearing impairment, Mental retardation, Macrocephaly, Meckel diverticulum, Mental retardation, x-linked, Non-syndromic intellectual disability, x-linked, Obesity, Seizure, Strabismus, Syndactyly of the toes |
|
1334
|
|
|
Terminal nucleotidyltransferase 4A |
LAK-1, LAK1, PAPD7, POLK, POLS, TRF4, TRF4-1, TRF41, TUTASE5 |
|
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1335
|
|
|
Chromodomain helicase DNA binding protein 1 |
CHD-1, PILBOS |
Apraxia, Autism, Colonic neoplasms, Colorectal adenoma, Colorectal cancer, Colorectal neoplasms, Developmental delay, Frontal bossing, Immunologic deficiency syndromes, Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome, Macrocephaly, Memory disorders, Age-related memory disorders, Mental retardation, Pilarowski-bjornsson syndrome, Prostatic neoplasms, Prostate cancer, Stereotyped behaviorView all (3 more) |
|
1336
|
|
|
Nudix hydrolase 21 |
CFIM25, CPSF5 |
|
|
1337
|
|
|
Cleavage and polyadenylation specific factor 6 |
CFIM, CFIM68, CFIM72, HPBRII-4, HPBRII-7 |
|
|
1338
|
|
|
Abhydrolase domain containing 2, acylglycerol lipase |
HS1-2, LABH2, PHPS1-2 |
|
|
1339
|
|
|
Chromodomain helicase DNA binding protein 2 |
DEE94, EEOC |
Absence seizure, Action myoclonus-renal failure syndrome, Attention deficit hyperactivity disorder, Autism, Autism spectrum disorder, Dentatorubral pallidoluysian atrophy, Developmental delay, Developmental regression, Dysarthria, Dysmorphic features, Epilepsy, Epileptic encephalopathy, Febrile seizures, Hypotonic seizures, Inclusion-body disease, Lennox-gastaut syndrome, May-white syndrome, Mental retardation, Myoclonic astatic epilepsy, Myoclonic epilepsy, Myoclonic seizures, Myoclonic-astatic epilepsy, Neurodevelopmental disorders, Obsessive-compulsive disorder, Personality disorders, Photosensitive tonic-clonic seizures, Seizure, Status epilepticus, Tourette syndromeView all (14 more) |
|
1340
|
|
|
WW domain containing E3 ubiquitin protein ligase 2 |
AIP2, WWp2-like |
|
