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 (14.59)
N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASAH1 (8p22)


* Spinal muscular atrophy with progressive myoclonic epilepsy - SMAPME (12.29)
N-myc downstream regulated gene 1
NDRG1 (8q24.3)


* Charcot-Marie-Tooth disease, type 4D - CMT4D (14.22, 14.91)
* Neuropathy, hereditary motor and sensory, lom type - HMSNL (14.22, 14.91)
* Hereditary motor and sensory neuropathy – Lom (with deafness) - HMNSL (14.22, 14.91)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)
NDUFAF1 (15q15.1)


* patient with HCM and isolated respiratory complex I deficiency - (10.23)
* Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 - (10.23)
Natriuretic peptide precursor A
NPPA (1p36)


* atrial fibrillation, familial, 6 - ATFB6 (10.125)
Nebulin
NEB (2q22)


* Nemaline myopathy 2, autosomal recessive - NEM2 (3.2, 4.10)
Nerve growth factor (beta polypeptide)
NGF (1p13.1)


* neuropathy, hereditary sensory and autonomic type v - HSAN5 (14.87)
Neurofilament, heavy polypeptide
NEFH (22q12.2)


* Susceptibility to amyotrophic lateral sclerosis related to NEFH - ALSDC (12.59)
Neurofilament, light polypeptide 68kDa
NEFL (8p21)


* Charcot-Marie-Tooth disease, type 2E - CMT2E (14.7, 14.45)
* Charcot-Marie-Tooth disease, type 1F - CMT1F (14.7, 14.45)
neurotrophic receptor tyrosine kinase 1
NTRK1 (1biq23.1)


* Hereditary sensory and autonomic neuropathy type IV - HSAN4 (14.86)
Nexilin(F-actin binding protein)
NEXN (1p32-p31 )


* Hypertrophic cardiomyopathy related to nexilin - (10.20, 10.66)
* Cardiomyopathy, familial hypertrophic 20 - CMH20 (10.20, 10.66)
* Cardiomyopathy, dilated, 1CC - CMD1CC (10.20, 10.66)
Non-imprinted in Prader-Willi/Angelman syndrome 1
NIPA1 (15q11.2)


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


* Spinocerebellar ataxia 31 - SCA36 (13.33)
Nucleoporin 155 kDa
NUP155 (5p13.2)


* Atrial fibrillation, 15 - ATFB15 (10.133)