Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
N-acetyl-alpha-glucosaminidase
NAGLU (17q21.2)


* Charcot-Marie-Tooth neuropathy Type 2V - CMT2V (14.63)
N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASAH1 (8p22)


* Spinal muscular atrophy with progressive myoclonic epilepsy - SMAPME (12.13)
N-myc downstream regulated gene 1
NDRG1 (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)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)
NDUFAF1 (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)
Natriuretic peptide precursor A
NPPA (1p36.22)


* atrial fibrillation, familial, 6 - ATFB6 (10.149)
Nebulin
NEB (2q22)


* Distal myopathy with nebulin defect - (3.2, 4.11, 4.12)
* Nemaline myopathy 2, autosomal recessive - NEM2 (3.2, 4.11, 4.12)
Nerve growth factor (beta polypeptide)
NGF (1p13.1)


* neuropathy, hereditary sensory and autonomic type v - HSAN5 (14.102)
Neurofilament, heavy polypeptide
NEFH (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)
Neurofilament, light polypeptide 68kDa
NEFL (8p21)


* Charcot-Marie-Tooth disease, type 2E - CMT2E (14.7, 14.19, 14.51)
* Charcot-Marie-Tooth disease, type 1F - CMT1F (14.7, 14.19, 14.51)
* Charcot-Marie-Tooth disease, dominant intermediate G - CMTD1G (14.7, 14.19, 14.51)
neurotrophic receptor tyrosine kinase 1
NTRK1 (1biq23.1)


* Hereditary sensory and autonomic neuropathy type IV - HSAN4 (14.101)
Never in mitosis gene A-related kinase 9
NEK9 (14q24.3)


* Lethal Congenital Contracture Syndrome 10 - LCCS10 (12.85)
Never in motosis gene A-related kinase 1
NEK1 (4q33)


* Amyotrophic lateral sclerosis, susceptibility to, 24 - ALS24 (12.67)
Nexilin(F-actin binding protein)
NEXN (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)
Nicotinamide nucleoside adenyltransferase 2
NMNAT2 (1q25.3)


* Polyneuropathy with erythromelalgia - (14.115)
NK6 homeobox 2
NKX6-2 (10q26.3)


* Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy - SPAX8 (15.82)
Non imprinted gene in Prader-Willi/Angelman syndrome chromosome region 1
NIPA1 (15q11.2)


* Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type - SPG6 (15.3)
NOP56 ribonucleoprotein
NOP56 (20p13)


* Spinocerebellar ataxia 31 - SCA36 (13.32)
Notch2 N-terminal-like protein
NOTCH2NLC (1q21.2)

* Neuronal intranuclear inclusion diseases - NIID (14.124)
Nucleoporin 155 kDa
NUP155 (5p13.2)


* Atrial fibrillation, 15 - ATFB15 (10.159)
Nucleoporin 88kD
NUP88 (17p13.2)


* Fetal akinesia deformation sequence 4 - FADS4 (16.29)
compteur de visite