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241
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Neural EGFL like 1 |
IDH3GL, NRP1 |
Acrocephaly, Autism, Brachycephaly, Colorectal cancer, Craniosynostosis, Esophageal cancer, Leukemia, Mental depression, Metopic synostosis, Scaphocephaly, Synostotic anterior plagiocephaly, Synostotic posterior plagiocephaly, Trigonocephaly |
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242
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|
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Neurofilament light chain |
CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL, PPP1R110 |
Bipolar disorder, Charcot-marie-tooth disease, Congenital pes cavus, Distal amyotrophy, Hereditary motor and sensory neuropathy, Mental depression, Motor delay, Myopathy, Nystagmus, Peripheral neuropathy, Schizophrenia, Sensorimotor neuropathy |
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243
|
|
|
NIMA related kinase 1 |
ALS24, NY-REN-55, OFD2, SRPS2, SRPS2A, SRTD6 |
Adactyly, Ambiguous genitalia, Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis with dementia, Anxiety disorder, Arachnoid cyst, Asphyxiating thoracic dystrophy, Brachydactyly, Ciliopathies, Clinodactyly, Pulmonary hypoplasia, Developmental delay, Dextrocardia, Dwarfism, Dysarthria, Dysphagia, Hearing loss, High palate, Hydrops fetalis, Hyperopia, Hypoplasia of teeth, Hypoplasia of the epiglottis, Laryngospasm, Lung adenocarcinoma, Lung carcinoma, Majewski syndrome, Mental depression, Mesomelia, Micrognathism, Mohr syndrome, Mood swings, Motor neuron disease, Orofaciodigital syndrome, Polycystic kidney disease, Polydactyly, Polysyndactyly, Respiratory failure, Schizophrenia, Seizure, Short rib-polydactyly syndrome, Submucous cleft of soft and hard palate, Syndactyly of fingers, Taurodontism, Thoracic dysplasia, Postaxial hand polydactyly, Velopharyngeal insufficiencyView all (31 more) |
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244
|
|
|
NIMA related kinase 2 |
HsPK21, NEK2A, NLK1, PPP1R111, RP67 |
Cataract, Congenital hypoplasia of penis, Diabetes mellitus, Glaucoma, Hearing loss, Hyperinsulinism, Hypogonadism, Keratoconus, Liver carcinoma, Lung carcinoma, Mental retardation, Nystagmus, Obesity, Optic atrophy, Retinitis pigmentosa, Rod-cone dystrophyView all (1 more) |
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245
|
|
|
Neuraminidase 1 |
NANH, NEU, SIAL1 |
Action myoclonus-renal failure syndrome, Cardiomyopathy, Cataract, Congenital pectus carinatum, Congenital sialidosis, Dentatorubral pallidoluysian atrophy, Dwarfism, Frontal bossing, Hearing loss, Hydrops fetalis, Hyperkeratosis, Inclusion-body disease, Lipomucopolysaccharidosis, May-white syndrome, Mental retardation, Mucolipidosis, Myoclonic epilepsy, Neuraminidase 1 deficiency, Nystagmus, Osteochondrodysplasia, Pfaundler-hurler syndrome, Retinal diseases, Schizophrenia, Scoliosis, Sialidase deficiency, Sialidosis, Skeletal dysplasia, Skin diseases, vascular, Speech disorders, VitiligoView all (15 more) |
|
246
|
|
|
Neuronal differentiation 1 |
BETA2, BHF-1, MODY6, NEUROD, T2D, bHLHa3 |
Hyperinsulinemic hypoglycemia, Pancreatic hypoplasia, Diabetes mellitus, Exocrine pancreatic insufficiency, Hepatocellular adenoma, Hyperglycemia, Hypoinsulinemia, Kidney disease, Mason type diabetes, Monogenic diabetes, Hypoglycemia, Nervous system disorder, Obesity, Renal cyst, Retinal diseases |
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247
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|
|
Neuronal differentiation 2 |
DEE72, EIEE72, NDRF, bHLHa1 |
Astigmatism, Autism, Central visual impairment, Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Clonic seizures, Congenital exomphalos, Developmental delay, Developmental regression, Dyskinetic syndrome, Dysphagia, Dyssomnia, Epileptic encephalopathy, Episodic ataxia, Esotropia, Febrile seizures, Focal seizures, Hypoplasia of corpus callosum, Hypotonic seizures, Mental retardation, Microcephaly, Pachygyria, Penis agenesis, Precocious puberty, Renal dysplasia, Seizure, Sleep disorders, Strabismus, Ureterocele, Ventricular septal defect, West syndromeView all (17 more) |
|
248
|
|
|
Neurogenin 1 |
AKA, CCDDRD, Math4C, NEUROD3, bHLHa6, ngn1 |
|
|
249
|
|
|
Neurofibromin 1 |
NFNS, VRNF, WSS |
17q11 microdeletion syndrome, 17q11.2 microduplication syndrome, Adenoma, Anaplastic astrocytoma, Aqueductal stenosis, Astrocytoma, Autism spectrum disorder, Autism, B-cell lymphoma, Breast cancer, Cafe-au-lait macules with pulmonary stenosis, Cafe-au-lait spot, Hereditary cancer syndrome, Cardiovascular abnormalities, Colorectal cancer, Congenital epicanthus, Congenital pectus excavatum, Cryptorchidism, Dental enamel hypoplasia, Developmental delay, Dwarfism, Dysmorphic features, Dysphagia, Endometrial carcinoma, Ewing sarcoma, Extra-adrenal pheochromocytoma, Fibrillary astrocytoma, Fibrosarcoma, Frontal bossing, Ganglioglioma, Gastrointestinal stromal tumor, Gemistocytic astrocytoma, Giant cell glioblastoma, Glaucoma, Glioblastoma, Glioma, Grade i astrocytoma, Hereditary paraganglioma-pheochromocytoma syndromes, Hereditary pheochromocytoma-paraganglioma, Hydrocephalus, Hypertension, Hypertrophic cardiomyopathy, Mental retardation, Intracranial astrocytoma, Knee osteoarthritis, Learning disorders, Leukemia, Liposarcoma, Lung carcinoma, Macrocephaly, Malignant peripheral nerve sheath tumor, Melanocytic nevus, Melanoma, Meningioma, Microcephaly, Mid aortic syndrome, Moyamoya disease, Multiple congenital anomalies, Myeloid leukemia, Myelomonocytic leukemia, Neck webbing, Nerve sheath tumors, Neurilemmoma, Neurofibroma, Neurofibroma of subcutaneous tissue, Neurofibromatosis, Neurofibromatosis-noonan syndrome, Neurofibrosarcoma, Peripheral nerve sheath neoplasm, Nf1 microdeletion syndrome, Noonan syndrome, Oligoastrocytoma, Optic nerve glioma, Osteoarthritis of hip, Papillary adenoma, Parathyroid adenoma, Patent foramen ovale, Perineurioma, Pheochromocytoma, Plexiform neurofibroma, Posteriorly rotated ear, Protoplasmic astrocytoma, Ptosis, Pulmonary stenosis, Rhabdomyosarcoma, Sarcoma, Schwannomatosis, Secundum atrial septal defect, Specific learning disorder, Spinal cord neoplasms, Spinal neurofibromas, Symmetric spinal nerve root neurofibromas, Urogenital abnormalities, XanthomaView all (79 more) |
|
250
|
|
|
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
ACN, BANF, SCH, SWNV, merlin-1 |
Acoustic neuroma, Amnesia, Angioblastic meningioma, Angiomatous meningioma, Astrocytoma, Benign meningioma, Schwannoma, Brain neoplasms, Breast cancer, Breast carcinoma, Cafe-au-lait spot, Cataract, Cerebral convexity meningioma, Chromophobe carcinoma, Dysgraphia, Ependymoma, Epiretinal membrane, Perivascular epithelioid neoplasms, Erectile dysfunction, Facial paralysis, Fibrous meningioma, Fossa meningioma, Growth hormone deficiency, Hearing loss, Hemangioblastic meningioma, Hemangiopericytic meningioma, Hydrocephalus, Hypogonadotropic hypogonadism, Hypothalamic hypothyroidism, Intracranial meningioma, Intraorbital meningioma, Intraventricular meningioma, Kidney neoplasm, Kidney cancer, Malignant meningioma, Malignant mesothelioma, Melanoma, Meningioma, Meningothelial meningioma, Mesothelioma, Microcystic meningioma, Migraine, Mood swings, Nervous system diseases, Neurilemmoma, Neurofibroma, Neurofibromatosis, Obesity, Oculomotor nerve palsy, Olfactory groove meningioma, Papillary meningioma, Papillary renal carcinoma, Papilledema, Parasagittal meningioma, Peripheral schwannoma, Pleural neoplasms, Brain stem compression, Proptosis, Psammomatous meningioma, Renal carcinoma, Sarcoma, Schwannomatosis, Hypothyroidism, Secretory meningioma, Sensory neuropathy, Speech disorders, Sphenoid wing meningioma, Spinal cord neoplasms, Spinal meningioma, Tongue neoplasms, Transitional meningioma, Trigeminal neuralgia, Xanthomatous meningiomaView all (58 more) |
