|
2281
|
|
|
Zinc finger protein 569 |
ZAP1, ZNF, Zfp74 |
|
|
2282
|
|
|
CAMP responsive element binding protein 3 like 4 |
AIBZIP, ATCE1, CREB3, CREB4, JAL, hJAL |
|
|
2283
|
|
|
PHD finger protein 13 |
PHF5, SPOC1 |
|
|
2284
|
|
|
TLC domain containing 4 |
TMEM56 |
|
|
2285
|
|
|
Solute carrier family 35 member F3 |
- |
|
|
2286
|
|
|
C-terminal binding protein 1 |
BARS, HADDTS |
Absence of septum pellucidum, Axenfeld anomaly, Colorectal cancer, Colorectal neoplasms, Congenital anomaly of eye, Congenital clubfoot, Congenital epicanthus, Rib fusion, Cryptorchidism, Developmental delay, Diabetes mellitus, Dwarfism, Frontal bossing, Gastroesophageal reflux disease, Hemangioma, High palate, Hypodontia, Hypospadias, Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, Immunologic deficiency syndromes, Mental retardation, Microcephaly, Micrognathism, Motor delay, Movement disorders, Nystagmus, Pitt-rogers-danks syndrome, Precocious puberty, Proptosis, Ptosis, Radioulnar synostosis, Rieger syndrome, Scoliosis, Stenosis of external auditory canal, Stereotyped behavior, Strabismus, Ventricular septal defect, Wolf-hirschhorn syndromeView all (23 more) |
|
2287
|
|
|
Protein tyrosine phosphatase receptor type V, pseudogene |
ESP, OST-PTP, PTPRV |
|
|
2288
|
|
|
Hemojuvelin BMP co-receptor |
HFE2, HFE2A, JH, RGMC |
Arthritis, Arthropathy, Azoospermia, Cardiomyopathy, Cholestasis, Cirrhosis, Congenital hepatic fibrosis, Congestive heart failure, Coronary heart disease, Diabetes mellitus, Erectile dysfunction, Hemochromatosis, Hereditary hemochromatosis, Hypogonadism, Hypogonadotropic hypogonadism, Hypothyroidism, OsteoporosisView all (2 more) |
|
2289
|
|
|
Beta-1,3-N-acetylgalactosaminyltransferase 2 |
B3GalNAc-T2, MDDGA11 |
Absence of septum pellucidum, Agenesis of corpus callosum, Alpha-dystroglycanopathy, Autism, Breast cancer, Cataract, Central visual impairment, Cerebellar hypoplasia, Cerebral atrophy, Cobblestone lissencephaly, Congenital coloboma of iris, Congenital hypoplasia of penis, Congenital meningocele, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, Cortical dysplasia, Cryptorchidism, Dandy-walker syndrome, Developmental delay, Dyskinetic syndrome, Dysmorphic features, Dyssomnia, Fukuyama type congenital muscular dystrophy, Glaucoma, Hemiplegia/hemiparesis, Holoprosencephaly, Hydrocephalus, Hypoplasia of corpus callosum, Hypoplasia of the optic nerve, Impaired cognition, Leukoencephalopathy, Limb-girdle muscular dystrophy, Macrocephaly, Mental depression, Mental retardation, Microcephaly, Microcornea, Microphthalmos, Motor delay, Multiple congenital anomalies, Muscle eye brain disease, Muscular dystrophy, Muscular dystrophy-dystroglycanopathy, Myopathy, Myopia, Non-syndromic intellectual disability, Optic atrophy, Pachygyria, Polymicrogyria, Posteriorly rotated ear, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Salaam seizures, Seizure, Sleep disorders, Specific learning disorder, Speech disorders, Stereotyped behavior, Strabismus, Submucosal cleft palate, Syndromic microphthalmia, Walker-warburg congenital muscular dystrophy, Walker-warburg syndromeView all (48 more) |
|
2290
|
|
|
C-terminal binding protein 2 |
- |
|
