|
61
|
|
|
BMP and activin membrane bound inhibitor |
NMA |
|
|
62
|
|
|
Beta-secretase 2 |
AEPLC, ALP56, ASP1, ASP21, BAE2, CDA13, CEAP1, DRAP |
|
|
63
|
|
|
Beta-1,4-N-acetyl-galactosaminyltransferase 1 |
GALGT, GALNACT, GalNAc-T, SPG26 |
Cataract, Cerebral cortical atrophy, Distal amyotrophy, Dysarthria, Dyskinetic syndrome, Dysmorphic features, Mental retardation, Mood swings, Premature menopause, Pseudobulbar palsy, Scoliosis, Sensorimotor neuropathy, Spastic paraplegia |
|
64
|
|
|
Biorientation of chromosomes in cell division 1 like 1 |
BOD1L, FAM44A |
|
|
65
|
|
|
Beta-1,3-glucuronyltransferase 3 |
GLCATI, JDSCD, glcUAT-I |
Bicuspid aortic valve, Brachycephaly, Talipes equinovalgus, Congenital clubfoot, Cutis laxa, Dwarfism, Elbow flexion contracture, Esotropia, Frontal bossing, Glaucoma, Glaucoma, congenital, Hydrocephalus, Hyperopia, Larsen syndrome, Larsen-like syndrome, Left ventricular hypertrophy, Microdontia, Microstomia, Microtia, Mitral valve prolapse, Osteopenia, Osteoporosis, Patent foramen ovale, Radioulnar synostosis, Scoliosis, Thoracic aortic aneurysm and aortic dissectionView all (11 more) |
|
66
|
|
|
Biogenesis of lysosomal organelles complex 1 subunit 6 |
BLOS6, HPS9, PA, PALLID, PLDN |
|
|
67
|
|
|
Biogenesis of lysosomal organelles complex 1 subunit 1 |
BLOS1, BORCS1, GCN5L1, MICoA, RT14 |
|
|
68
|
|
|
BSCL2 lipid droplet biogenesis associated, seipin |
GNG3LG, HMN5, HMN5C, HMND13, PELD, SPG17 |
Acanthosis nigricans, Asthenozoospermia, Atherosclerosis, Atrial fibrillation, Cerebral atrophy, Cirrhosis, Congenital exomphalos, Congenital lipodystrophy, Congestive heart failure, Developmental regression, Diabetes mellitus, Distal amyotrophy, Distal hereditary motor neuronopathy, Dysautonomia, Dyssomnia, Encephalopathy, with or without lipodystrophy, Epileptic encephalopathy, Fatty liver, Hyperinsulinism, Hypertension, Hypertrophic cardiomyopathy, Hypertrophy of clitoris, Immunologic deficiency syndromes, Isolated somatotropin deficiency, Kidney disease, Lipoatrophy, Lipodystrophy, Liver failure, Macrotia, Malocclusion, Mental retardation, Monogenic diabetes, Mood disorder, Myocardial infarction, Myopathy, Nephrolithiasis, Nervous system diseases, Neurodegenerative syndrome with lipodystrophy, Neuronopathy, Oligospermia, Osteopenia, Osteoporosis, Pancreatitis, Partial lipodystrophy, Polycystic ovary syndrome, Polyneuropathy, Precocious puberty, Pulmonary arterial hypertension, Renal glomerular disease, Renal insufficiency, Respiratory failure, Scoliosis, Secondary physiologic amenorrhea, Sensorimotor neuropathy, Sleep disorders, Somatotropin deficiency, Spastic paraplegia, Status epilepticus, Talipes transversoplanus, Ventricular hypertrophy, Ventricular septal hypertrophyView all (46 more) |
|
69
|
|
|
Beta-1,4-galactosyltransferase 1 |
B4GAL-T1, CDG2D, CLDLFIB, GGTB2, GT1, GTB, beta4Gal-T1 |
|
|
70
|
|
|
B9 domain containing 1 |
B9, EPPB9, JBTS27, MKS9, MKSR-1, MKSR1 |
Agenesis of corpus callosum, Ambiguous genitalia, Anencephaly, Aplasia cutis congenita, Cataract, Cerebellar vermis agenesis, Ciliopathies, Asplenia, Congenital cerebral hernia, Congenital clubfoot, Congenital coloboma of iris, Congenital hepatic fibrosis, Cryptorchidism, Cystic liver disease, Dandy-walker syndrome, Developmental delay, Double ureter, Fibrosis of pancreas, Foot polydactyly, Gastrointestinal stromal tumor, Hirschsprung disease, Hydrocephalus, Joubert syndrome, Lobar holoprosencephaly, Male pseudohermaphroditism, Meckel syndrome, Meckel-gruber syndrome, Mental retardation, Microcephaly, Microcornea, Micrognathism, Microphthalmos, Multicystic renal dysplasia, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oculovestibuloauditory syndrome, Optic atrophy, Oral cleft, Pancreatic cyst, Polycystic liver disease, Polydactyly, Polydactyly of toes, Polymicrogyria, Ptosis, Schizophrenia, Sclerocornea, Scoliosis, Situs inversus, Strabismus, Syndromic microphthalmia, Talipes, True hermaphroditism, Postaxial hand polydactyly, Urethral atresiaView all (40 more) |
