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 (14.63)

NDRG1
N-myc downstream regulated gene 1



8q24.3
* Charcot-Marie-Tooth disease, type 4D - CMT4D (14.26)
* Neuropathy, hereditary motor and sensory, lom type - HMSNL (14.26)
* Hereditary motor and sensory neuropathy – Lom (with deafness) - HMNSL (14.26)

NDUFAF1
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



15q15.1
* patient with HCM and isolated respiratory complex I deficiency - (10.29)
* Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 - (10.29)
* Mitochondrial complex 1 deficiency, nuclear type 11 - MC1DN11 (10.29)

NEB
Nebulin



2q22
* Distal myopathy with nebulin defect - (3.2, 4.11, 4.12)
* Nemaline myopathy 2, autosomal recessive - NEM2 (3.2, 4.11, 4.12)

NEFH
Neurofilament, heavy polypeptide



22q12.2
* Susceptibility to amyotrophic lateral sclerosis related to NEFH - ALSDC (12.69, 14.67)
* Charcot-Marie-Tooth disease, axonal, type 2CC - CMT2CC (12.69, 14.67)

NEFL
Neurofilament, light polypeptide 68kDa



8p21
* Charcot-Marie-Tooth disease, type 1F - CMT1F (14.7, 14.19, 14.51)
* Charcot-Marie-Tooth disease, type 2E - CMT2E (14.7, 14.19, 14.51)
* Charcot-Marie-Tooth disease, dominant intermediate G - CMTD1G (14.7, 14.19, 14.51)

NEK1
Never in motosis gene A-related kinase 1



4q33
* Amyotrophic lateral sclerosis, susceptibility to, 24 - ALS24 (12.67)

NEK9
Never in mitosis gene A-related kinase 9



14q24.3
* Lethal Congenital Contracture Syndrome 10 - LCCS10 (12.85)

NEXN
Nexilin(F-actin binding protein)



1p32-p31
* Hypertrophic cardiomyopathy related to nexilin - (10.21, 10.64)
* Cardiomyopathy, familial hypertrophic 20 - CMH20 (10.21, 10.64)
* Cardiomyopathy, dilated, 1CC - CMD1CC (10.21, 10.64)

NGF
Nerve growth factor (beta polypeptide)



1p13.1
* neuropathy, hereditary sensory and autonomic type v - HSAN5 (14.102)

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 (15.82)

NMNAT2
Nicotinamide nucleoside adenyltransferase 2



1q25.3
* Polyneuropathy with erythromelalgia - (14.115)

NOP56
NOP56 ribonucleoprotein



20p13
* Spinocerebellar ataxia 31 - SCA36 (13.32)

NOTCH2NLC
Notch2 N-terminal-like protein



1q21.2
* Neuronal intranuclear inclusion diseases - NIID (14.124)

NPPA
Natriuretic peptide precursor A



1p36.22
* atrial fibrillation, familial, 6 - ATFB6 (10.149)

NT5C2
5'-nucleotidase, cytosolic II



10q24-q32
* Spastic paraplegia 45, autosomal recessive - SPG45 (15.44)

NTRK1
neurotrophic receptor tyrosine kinase 1



1biq23.1
* Hereditary sensory and autonomic neuropathy type IV - HSAN4 (14.101)

NUP155
Nucleoporin 155 kDa



5p13.2
* Atrial fibrillation, 15 - ATFB15 (10.159)

NUP88
Nucleoporin 88kD



17p13.2
* Fetal akinesia deformation sequence 4 - FADS4 (16.29)
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