Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| N-acetyl-alpha-glucosaminidase | |  * Charcot-Marie-Tooth neuropathy Type 2V - CMT2V (14.64)
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N-acylsphingosine amidohydrolase (acid ceramidase) 1 | | * Spinal muscular atrophy with progressive myoclonic epilepsy - SMAPME (12.18)
| N-myc downstream regulated gene 1 | | * Charcot-Marie-Tooth disease, type 4D - CMT4D (14.27)
* Neuropathy, hereditary motor and sensory, lom type - HMSNL (14.27)
* Hereditary motor and sensory neuropathy – Lom (with deafness) - HMNSL (14.27)
| NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M) | | * patient with HCM and isolated respiratory complex I deficiency - (10.31)
* Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 - (10.31)
* Mitochondrial complex 1 deficiency, nuclear type 11 - MC1DN11 (10.31)
| Natriuretic peptide precursor A | | * atrial fibrillation, familial, 6 - ATFB6 (10.163)
| Nebulin | | * Distal myopathy with nebulin defect - (3.5, 4.17, 4.18)
* Nemaline myopathy 2, autosomal recessive - NEM2 (3.5, 4.17, 4.18)
| Nerve growth factor (beta polypeptide) | | * neuropathy, hereditary sensory and autonomic type v - HSAN5 (14.110)
| Neurofilament, heavy polypeptide | | * Susceptibility to amyotrophic lateral sclerosis related to NEFH - ALSDC (12.82, 14.68)
* Charcot-Marie-Tooth disease, axonal, type 2CC - CMT2CC (12.82, 14.68)
| Neurofilament, light polypeptide 68kDa | | * Charcot-Marie-Tooth disease, type 2E - CMT2E (14.7, 14.20, 14.52)
* Charcot-Marie-Tooth disease, type 1F - CMT1F (14.7, 14.20, 14.52)
* Charcot-Marie-Tooth disease, dominant intermediate G - CMTD1G (14.7, 14.20, 14.52)
| Neuronal pentraxin 1 | | * Spinocerebellar ataxia 50 - SCA50 (13.46)
| neurotrophic receptor tyrosine kinase 1 | | * Hereditary sensory and autonomic neuropathy type IV - HSAN4 (14.109)
| Never in mitosis gene A-related kinase 9 | | * Lethal Congenital Contracture Syndrome 10 - LCCS10 (12.99)
| Never in motosis gene A-related kinase 1 | | * Amyotrophic lateral sclerosis, susceptibility to, 24 - ALS24 (12.77)
| Nexilin(F-actin binding protein) | | * Hypertrophic cardiomyopathy related to nexilin - (10.21, 10.66)
* Cardiomyopathy, familial hypertrophic 20 - CMH20 (10.21, 10.66)
* Cardiomyopathy, dilated, 1CC - CMD1CC (10.21, 10.66)
| NFU1 iron-sulfur cluster scaffold | | * Spastic paraplegia 93, autosomal recessive - SPG93 (15.82)
| Nicotinamide nucleoside adenyltransferase 2 | | * Polyneuropathy with erythromelalgia - (14.124)
| NK6 homeobox 2 | | * Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy - SPAX8 (15.97)
| Non imprinted gene in Prader-Willi/Angelman syndrome chromosome region 1 | | * Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type - SPG6 (15.3)
| NOP2/SUN RNA Methyltransferase Family Member 3 | | * Combined oxidative phosphorylation deficiency - COXPD48 (17.46)
| NOP56 ribonucleoprotein | | * Spinocerebellar ataxia 31 - SCA36 (13.32)
| Notch2 N-terminal-like protein | | * Oculopharyngodistal myopathy - (5.25, 14.134, 14.77)
* Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC - CMT2 (5.25, 14.134, 14.77)
* Neuronal intranuclear inclusion diseases - NIID (5.25, 14.134, 14.77)
| Nucleoporin 155 kDa | | * Atrial fibrillation, 15 - ATFB15 (10.172)
| Nucleoporin 88kD | | * Fetal akinesia deformation sequence 4 - FADS4 (17.31)
| NUTM2B antisens RNA 1 | | * Oculopharyngeal myopathy with leukoencephalopathy 1 - OPML1 (5.28)
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