Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

NAGLU
N-acetyl-alpha-glucosaminidase



17q21.2
* Charcot-Marie-Tooth neuropathy Type 2V - CMT2V (14.64)

NARS1
Asparaginyl-tRNA Synthetase 1



18q21.31
* Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities - NEDMILG (14.136, 14.79)
* Charcot-Marie-Tooth disease, axonal, related to NARS1 - CMT2 (14.136, 14.79)

NDRG1
N-myc downstream regulated gene 1



8q24.3
* 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)

NDUFAF1
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



15q15.1
* 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)

NEB
Nebulin



2q22
* Distal myopathy with nebulin defect - (3.5, 4.17, 4.18)
* Nemaline myopathy 2, autosomal recessive - NEM2 (3.5, 4.17, 4.18)

NEFH
Neurofilament, heavy polypeptide



22q12.2
* 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)

NEFL
Neurofilament, light polypeptide 68kDa



8p21
* Charcot-Marie-Tooth disease, type 1F - CMT1F (14.7, 14.20, 14.52)
* Charcot-Marie-Tooth disease, type 2E - CMT2E (14.7, 14.20, 14.52)
* Charcot-Marie-Tooth disease, dominant intermediate G - CMTD1G (14.7, 14.20, 14.52)

NEK1
Never in motosis gene A-related kinase 1



4q33
* Amyotrophic lateral sclerosis, susceptibility to, 24 - ALS24 (12.77)

NEK9
Never in mitosis gene A-related kinase 9



14q24.3
* Lethal Congenital Contracture Syndrome 10 - LCCS10 (12.99)

NEXN
Nexilin(F-actin binding protein)



1p32-p31
* 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
NFU1 iron-sulfur cluster scaffold



2p13.3
* Spastic paraplegia 93, autosomal recessive - SPG93 (15.82)

NGF
Nerve growth factor (beta polypeptide)



1p13.1
* neuropathy, hereditary sensory and autonomic type v - HSAN5 (14.110)

NIPA1
Non imprinted gene in Prader-Willi/Angelman syndrome chromosome region 1



15q11.2
* Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type - SPG6 (15.3)

NKX6-2
NK6 homeobox 2



10q26.3
* Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy - SPAX8 (15.97)

NMNAT2
Nicotinamide nucleoside adenyltransferase 2



1q25.3
* Polyneuropathy with erythromelalgia - (14.124)

NOP56
NOP56 ribonucleoprotein



20p13
* Spinocerebellar ataxia 31 - SCA36 (13.32)

NOTCH2NLC
Notch2 N-terminal-like protein



1q21.2
* Neuronal intranuclear inclusion diseases - NIID (5.25, 14.134, 14.77)
* Oculopharyngodistal myopathy - (5.25, 14.134, 14.77)
* Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC - CMT2 (5.25, 14.134, 14.77)

NPPA
Natriuretic peptide precursor A



1p36.22
* atrial fibrillation, familial, 6 - ATFB6 (10.163)

NPTX1
Neuronal pentraxin 1



17q25.3
* Spinocerebellar ataxia 50 - SCA50 (13.46)

NSUN3
NOP2/SUN RNA Methyltransferase Family Member 3



3q11.2
* Combined oxidative phosphorylation deficiency - COXPD48 (17.46)

NT5C2
5'-nucleotidase, cytosolic II



10q24-q32
* Spastic paraplegia 45, autosomal recessive - SPG45 (15.45)

NTRK1
neurotrophic receptor tyrosine kinase 1



1biq23.1
* Hereditary sensory and autonomic neuropathy type IV - HSAN4 (14.109)

NUP155
Nucleoporin 155 kDa



5p13.2
* Atrial fibrillation, 15 - ATFB15 (10.172)

NUP88
Nucleoporin 88kD



17p13.2
* Fetal akinesia deformation sequence 4 - FADS4 (17.31)

NUTM2B-AS1
NUTM2B antisens RNA 1



10q22.3
* Oculopharyngeal myopathy with leukoencephalopathy 1 - OPML1 (5.28)