|
371
|
|
|
Nucleoporin 133 |
GAMOS8, NPHS18, hNUP133 |
Aqueductal stenosis, Breast cancer, Dental enamel hypoplasia, Developmental delay, Dwarfism, Focal cortical dysplasia, Galloway-mowat syndrome, Genetic steroid-resistant nephrotic syndrome, Glomerulosclerosis, Hemiplegia/hemiparesis, Hiatal hernia, Hypoalbuminemia, Impaired cognition, Kidney disease, Macrotia, Microcephaly, Micrognathism, Nephritis, Nephrotic syndrome, Pachygyria, Steroid resistant nephrotic syndrome, StrabismusView all (7 more) |
|
372
|
|
|
N-glycanase 1 |
CDDG, CDG1V, PNG-1, PNG1, PNGase |
Alacrima, Alacrimia-choreoathetosis-liver dysfunction syndrome, Anhidrosis, Brachycephaly, Cerebellar atrophy, Cerebral atrophy, Cone-rod dystrophy, Developmental dysplasia of the hip, Corneal neovascularization, Corneal ulcer, Developmental delay, Developmental regression, Dysmorphic features, Epilepsy, Exotropia, Fibrinogen deficiency, Focal tonic seizures, Hypofibrinogenemia, Hypotonic seizures, Hypotriglyceridemia, Lagopthalmos, Microcephaly, Micronodular cirrhosis, Movement disorders, Myoclonic seizures, Ngly1 deficiency, Oculomotor apraxia, Oculovestibuloauditory syndrome, Optic atrophy, Oropharyngeal dysphagia, Osteoporosis, Peripheral neuropathy, Polyneuropathy, Protein c deficiency, Ptosis, Retinitis pigmentosa, Scoliosis, Sensorimotor neuropathy, Sleep apnea, Strabismus, Tarsal sclerosis, West syndromeView all (27 more) |
|
373
|
|
|
NADH:ubiquinone oxidoreductase subunit A12 |
B17.2, DAP13, MC1DN23 |
Alzheimer disease, Anemia, Cerebellar ataxia, Coronary artery disease, Developmental delay, Dysarthria, Hypertrichosis, Hypertrophic cardiomyopathy, Mental retardation, Leigh syndrome, Leigh syndrome with leukodystrophy, Leukodystrophy, Mitochondrial complex deficiency, Mood swings, Necrotizing encephalomyelopathy, Nervous system diseases, Nystagmus, Optic atrophy, Ptosis, Retinitis pigmentosa, Scoliosis, Strabismus, Ventricular septal defectView all (8 more) |
|
374
|
|
|
Nuclear RNA export factor 5 |
- |
|
|
375
|
|
|
Nuclear RNA export factor 4 (pseudogene) |
- |
|
|
376
|
|
|
NSE3 component of SMC5/6 complex |
HCA4, LICS, MAGEG1, MAGEL3, NDNL2, NSE3 |
|
|
377
|
|
|
Neuromedin U receptor 2 |
FM-4, FM4, NMU-R2, NMU2R, TGR-1, TGR1 |
|
|
378
|
|
|
Nicalin |
NET59 |
|
|
379
|
|
|
Nitrilase family member 2 |
HEL-S-8a |
|
|
380
|
|
|
Nucleoporin 107 |
GAMOS7, NPHS11, NUP84, ODG6, ODG6; GAMOS7 |
46, xx gonadal dysgenesis, 46,xx gonadal dysgenesis, Cubitus valgus, Acquired kyphoscoliosis, Aqueductal stenosis, Arachnodactyly, Clinodactyly, Congenital kyphoscoliosis, Congenital pectus excavatum, Developmental delay, Dwarfism, Galloway-mowat syndrome, Genetic steroid-resistant nephrotic syndrome, Glomerulonephritis, Glomerulosclerosis, Gonadal dysgenesis, Hemiplegia/hemiparesis, Hiatal hernia, High palate, Hypercholesterolemia, Hypoalbuminemia, Impaired cognition, Kidney disease, Macrotia, Mesangial sclerosis, Microcephaly, Micrognathism, Nephritis, Nephrotic syndrome, Osteopenia, Osteoporosis of vertebrae, Ovarian dysgenesis, Pachygyria, Physiologic amenorrhea, Premature menopause, Pulmonary fibrosis, Secondary physiologic amenorrhea, Streak ovaryView all (23 more) |
