Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
NAGLUN-acetyl-alpha-glucosaminidase | 17q21.2 | * Charcot-Marie-Tooth neuropathy Type 2V - CMT2V (14.71)
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NARS1Asparaginyl-tRNA Synthetase 1 | 18q21.31 | * Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities - NEDMILG (14.139)
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NDRG1N-myc downstream regulated gene 1 | 8q24.3 | * Charcot-Marie-Tooth disease, type 4D - CMT4D (14.33) * Neuropathy, hereditary motor and sensory, lom type - HMSNL (14.33) * Hereditary motor and sensory neuropathy – Lom (with deafness) - HMNSL (14.33)
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NDUFAF1NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M) | 15q15.1 | * patient with HCM and isolated respiratory complex I deficiency - (10.32) * Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 - (10.32) * Mitochondrial complex 1 deficiency, nuclear type 11 - MC1DN11 (10.32)
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| 2q22 | * Distal myopathy with nebulin defect - (3.6, 4.17, 4.18) * Nemaline myopathy 2, autosomal recessive - NEM2 (3.6, 4.17, 4.18)
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NEFHNeurofilament, heavy polypeptide | 22q12.2 | * Susceptibility to amyotrophic lateral sclerosis related to NEFH - ALSDC (12.78, 14.75) * Charcot-Marie-Tooth disease, axonal, type 2CC - CMT2CC (12.78, 14.75)
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NEFLNeurofilament, light polypeptide 68kDa | 8p21 | * Charcot-Marie-Tooth disease, type 1F - CMT1F (14.7, 14.21, 14.59) * Charcot-Marie-Tooth disease, type 2E - CMT2E (14.7, 14.21, 14.59) * Charcot-Marie-Tooth disease, dominant intermediate G - CMTD1G (14.7, 14.21, 14.59)
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NEK1Never in motosis gene A-related kinase 1 | 4q33 | * Amyotrophic lateral sclerosis, susceptibility to, 24 - ALS24 (12.75)
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NEK9Never in mitosis gene A-related kinase 9 | 14q24.3 | * Lethal Congenital Contracture Syndrome 10 - LCCS10 (12.96)
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NEXNNexilin(F-actin binding protein) | 1p32-p31 | * Hypertrophic cardiomyopathy related to nexilin - (10.21, 10.67) * Cardiomyopathy, familial hypertrophic 20 - CMH20 (10.21, 10.67) * Cardiomyopathy, dilated, 1CC - CMD1CC (10.21, 10.67)
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NGFNerve growth factor (beta polypeptide) | 1p13.1 | * neuropathy, hereditary sensory and autonomic type v - HSAN5 (14.114)
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NIPA1Non imprinted gene in Prader-Willi/Angelman syndrome chromosome region 1 | 15q11.2 | * Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type - SPG6 (15.3)
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| 10q26.3 | * Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy - SPAX8 (15.94)
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NMNAT2Nicotinamide nucleoside adenyltransferase 2 | 1q25.3 | * Polyneuropathy with erythromelalgia - (14.127)
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NOP56NOP56 ribonucleoprotein | 20p13 | * Spinocerebellar ataxia 31 - SCA36 (13.33)
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NOTCH2NLCNotch2 N-terminal-like protein | 1q21.2 | * Neuronal intranuclear inclusion diseases - NIID (5.24, 14.137, 14.84) * Oculopharyngodistal myopathy - (5.24, 14.137, 14.84) * Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC - CMT2 (5.24, 14.137, 14.84)
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NPPANatriuretic peptide precursor A | 1p36.22 | * atrial fibrillation, familial, 6 - ATFB6 (10.163)
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NPTX1Pentraxin I, neuronal, NP1 | 17q25.3 | * Spinocerebellar ataxia 50 - SCA50 (13.47)
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NSUN3NOP2/SUN RNA Methyltransferase Family Member 3 | 3q11.2 | * Combined oxidative phosphorylation deficiency - COXPD48 (16.68)
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NT5C25'-nucleotidase, cytosolic II | 10q24-q32 | * Spastic paraplegia 45, autosomal recessive - SPG45 (15.48)
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NTRK1neurotrophic receptor tyrosine kinase 1 | 1biq23.1 | * Hereditary sensory and autonomic neuropathy type IV - HSAN4 (14.113)
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NUP155Nucleoporin 155 kDa | 5p13.2 | * Atrial fibrillation, 15 - ATFB15 (10.172)
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| 17p13.2 | * Fetal akinesia deformation sequence 4 - FADS4 (16.30)
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