|
41
|
|
|
Beta-1,3-glucuronyltransferase 2 |
GLCATS |
|
|
42
|
|
|
BEN domain containing 2 |
CXorf20 |
|
|
43
|
|
|
Bestrophin 3 |
VMD2L3 |
|
|
44
|
|
|
Beta 3-glucosyltransferase |
B3GALTL, B3GTL, B3Glc-T, Gal-T, beta3Glc-T |
Accessory kidney, Agenesis of corpus callosum, Anomalous pulmonary artery, Anterior segment dysgenesis, Atrial septal defect, Brachycephaly, Brachydactyly, Camptodactyly of fingers, Cataract, Cerebral atrophy, Cerebral cortical atrophy, Chamber synechiae, Congenital coloboma of iris, Congenital exomphalos, Congenital hypothyroidism, Congenital pectus excavatum, Craniosynostosis, Cryptorchidism, Developmental delay, Disorder of eye, Double ureter, Exudative macular degeneration, Frontal bossing, Fundus coloboma, Geographic atrophy, Glaucoma, Hearing loss, Heart septal defects, Hydrocephalus, Hydronephrosis, Hypopituitarism, Hypoplasia of the maxilla, Hypoplasia of vagina, Hypoplastic left heart syndrome, Hypospadias, Imperforate anus, Krause-kivlin syndrome, Macrocephaly, Macrostomia, Age-related macular degeneration, Mental depression, Mental retardation, Microcephaly, Microcornea, Micrognathism, Micromelia, Multicystic renal dysplasia, Myopia, Neck webbing, Nystagmus, Optic atrophy, Patent ductus arteriosus, Peters plus syndrome, Posteriorly rotated ear, Ptosis, Pulmonary stenosis, Renal hypoplasia, Retinal coloboma, Rhizomelia, Scoliosis, Spade-like hand, Spina bifida occulta, Stenosis of external auditory canal, Syndactyly, Syndactyly of the toes, Talipes transversoplanus, Ventricular septal defectView all (52 more) |
|
45
|
|
|
Brain expressed associated with NEDD4 1 |
BEAN, SCA31 |
|
|
46
|
|
|
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, Mental retardation, Leukoencephalopathy, Limb-girdle muscular dystrophy, Macrocephaly, Mental depression, 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) |
|
47
|
|
|
BMP/retinoic acid inducible neural specific 1 |
DBC1, DBCCR1, FAM5A |
|
|
48
|
|
|
Bardet-Biedl syndrome 12 |
C4orf24 |
Bardet-biedl syndrome, Ciliopathies, Hypoplasia of the ovary, Congenital hypoplasia of penis, Cryptorchidism, Disorder of eye, Dwarfism, Hypertension, Hypogonadism, Impaired cognition, Liver fibrosis, Mental retardation, Multicystic renal dysplasia, Myopia, Nephrotic syndrome, Nyctalopia, Nystagmus, Obesity, Polydactyly, Retinal dystrophy, Retinitis pigmentosa, Rod-cone dystrophy, Speech disorders, Syndactyly of fingers, Postaxial hand polydactylyView all (10 more) |
|
49
|
|
|
BMP binding endothelial regulator |
CRIM3, CV-2, CV2 |
Abnormal spinal segmentation, Alzheimer disease, Congenital clubfoot, Congenital epicanthus, Pulmonary hypoplasia, Developmental delay, Diaphanospondylodysostosis, Ischiovertebral syndrome, Liver carcinoma, Meningomyelocele, Micrognathism, Multiple renal cysts, Neck webbing, Polymicrogyria, Thoracic hypoplasia, TracheomalaciaView all (1 more) |
|
50
|
|
|
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 |
B3Gn-T6, BGnT-6, beta-1,3-Gn-T6, beta3Gn-T6 |
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