Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
naxos disease (10.134, 10.125)
601214
JUP (17q21.2)
Junction plakoglobin



Nemalin myopathy with distal arthrogryposis (17.13, 3.16)
TNNT3 (11p15.5)
Troponin T3, skeletal



Nemaline myopathy (3.9)
610687
CFL2 (14q12)
Cofilin 2 (muscle)



Nemaline myopathy (3.11)
615731
KLHL41 (2q31.1)
Kelch-like family member 41



Nemaline myopathy (3.12)
616165
LMOD3 (3p14.1)
Leiomodin 3 (fetal)



Nemaline myopathy (10.74, 3.13, 10.24, 10.99)
617336
MYPN (10q21.1)
Myopalladin



Nemaline myopathy 1, autosomal dominant (3.3, 3.4)
609284
TPM3 (1q21.2)
Tropomyosin 3



Nemaline myopathy 2, autosomal recessive (3.5, 4.17, 4.18)
256030
NEB (2q22)
Nebulin



Nemaline myopathy 3 (3.2, 3.38, 3.1, 3.37, 2.46)
161800
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



Nemaline myopathy 4 (3.6, 3.36, 17.9, 17.15)
609285
TPM2 (9p13)
Tropomyosin 2 (beta)



Nemaline myopathy 5 (3.7)
605355
TNNT1 (19q13.4)
Slow troponin T



Nemaline myopathy 6 (3.8)
609273
KBTBD13 (15q22.31)
Kelch repeat and BTB (POZ) domain containing 13



Nemaline Myopathy with Cardiomyopathy (3.14)
MYO18B (22q12.1)
Myosin XVIIIB



Nesprin-2 related muscular dystrophy (1.6)
612999
SYNE2 (14q23.2)
Spectrin repeat containing, nuclear envelope 2 (nesprin 2)



Neurodegeneration with brain iron accumulation 4 (15.43)
614298
C19orf12 (19q12)
Chromosome 19 open reading frame 12 (M)



Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (12.116)
618170
ADPRHL2 (1p34.3)
ADP-Ribosylhydrolase-Like 2



Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies (17.27)
618622
SMPD4 (2q21.1)
Sphingomyelin phosphodiesterase 4, neutral membrane



Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (14.136, 14.79)
619091
NARS1 (18q21.31)
Asparaginyl-tRNA Synthetase 1



Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy and Epilepsy (13.109)
618879
PIGK (1p31.1)
Phosphatidylinositol Glycan Anchor Biosynthesis Class K Protein



Neurological impairment (13.55)
TOMM70 (3q12.2)
Translocase of Outer Mitochondrial Membrane 70



Neuromuscular disorder, congenital, with dysmorphic facies (5.17)
620775
FILIP1 (6q14.1)
Filamin A-interacting protein 1



Neuromyotonia and axonal neuropathy, autosomal recessive (14.85, 12.21)
137200
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



Neuronal intranuclear inclusion diseases (14.134, 5.25, 14.77)
603472
NOTCH2NLC (1q21.2)
Notch2 N-terminal-like protein



Neuronopathy, Distal hereditary motor related to HINT1 (14.85, 12.21)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



Neuronopathy, distal hereditary motor, autosomal dominant 10 (12.32)
620080
EMILIN1 (2p23.3)
Elastin microfibril interfacer 1



Neuronopathy, distal hereditary motor, autosomal dominant 12 (15.13, 12.34, 12.10)
614751
REEP1 (2p11.2)
Receptor accessory protein 1 (M)



Neuronopathy, distal hereditary motor, autosomal dominant 13 (15.9, 12.35)
619112
BSCL2 (11q12-q13.5)
Seipin



Neuronopathy, distal hereditary motor, autosomal dominant 14 (12.36, 12.84)
607641
DCTN1 (2p13)
Dynactin 1



Neuronopathy, distal hereditary motor, autosomal recessive 10 (12.103, 14.132, 12.14)
620542
VRK1 (14q32)
Vaccinia related kinase 1



Neuronopathy, distal hereditary motor, type I (12.23)
182960
? - (7q34-q36)
neuronopathy, distal hereditary motor, type IIC (12.26)
613376
HSPB3 (5q11.2)
Heat shock 27kDa protein 3



Neuronopathy, distal hereditary motor, type IX (12.31)
617721
WARS (14q32.2)
Tryptophanyl-tRNA synthetase



Neuronopathy, distal hereditary motor, type VIIA, with vocal cord paralysis (Harper-Young) (11.28, 12.29)
158580
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



Neuronopathy, distal hereditary motor, type VIII (12.30, 12.39, 14.50)
600175
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4



Neuropathy, axonal motor-sensory, with deafness and mental retardation (14.40, 17.44, 13.108)
310490
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1 (M)



Neuropathy, congenital hypomyelinating, 1 (14.4, 14.28, 14.45)
605253
EGR2 (10q21.1)
Early growth response 2 protein



Neuropathy, congenital hypomyelinating, 2 (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
605253
MPZ (1q22)
Myelin protein zero



Neuropathy, distal hereditary motor type V (14.51, 12.27)
600794
GARS1 (7p15)
Glycyl-tRNA synthetase



Neuropathy, distal hereditary motor, autosomal recessive 6 (15.13, 12.34, 12.10)
620011
REEP1 (2p11.2)
Receptor accessory protein 1 (M)



Neuropathy, distal hereditary motor, autosomal recessive 9 (17.53, 12.13)
620402
COQ7 (16p12.3)
Coenzyme Q7 (M)



Neuropathy, distal hereditary motor, type II (14.58, 12.24, 4.27, 4.28)
158590
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



Neuropathy, distal hereditary motor, type IIB (14.53, 12.25)
608634
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



Neuropathy, distal hereditary motor, with pyramidal features (12.57, 13.95)
602433
SETX (9q34.13)
Senataxin



Neuropathy, hereditary motor and sensory, lom type (14.27)
601455
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



Neuropathy, hereditary motor and sensory, Okinawa type (14.71, 15.57)
604484
TFG (3q13)
TRK-fused gene



Neuropathy, hereditary motor and sensory, type VIB (12.104)
616505
SLC25A46 (5q22.1)
solute carrier family 25 member 46 (M)



Neuropathy, hereditary motor, autosomal recessive 8 (14.98, 12.12)
618912
SORD (15q21.1)
Sorbitol Dehydrogenase



Neuropathy, hereditary motor, with myopathic features (12.11)
619216
VWA1 (1p36.33)
Von Willebrand factor A domain-containing protein 1



neuropathy, hereditary sensory and autonomic type v (14.110)
608654
NGF (1p13.1)
Nerve growth factor (beta polypeptide)



Neuropathy, hereditary sensory and autonomic, type 1 (14.102, 12.80)
162400
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1



Neuropathy, hereditary sensory and autonomic, type IC (14.104)
613640
SPTLC2 (14q24.3)
Serine palmitoyltransferase long chain base subunit 2



neuropathy, hereditary sensory and autonomic, type iia (14.105)
201300
WNK1 (12p.13)
WNK lysine deficient protein kinase 1



Neuropathy, hereditary sensory and autonomic, type IID (14.107, 14.122)
243000
SCN9A (2q24.3)
Sodium voltage-gated channel alpha subunit 9



Neuropathy, hereditary sensory and autonomic, type III (17.3, 14.108)
223900
ELP1 (9q31.3)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay (15.49, 14.114)
615031
TECPR2 (14q32)
Tectonin beta-propeller repeat containing 2



Neuropathy, hereditary sensory and autonomic, type VII (14.112, 14.123)
615548
SCN11A (3p22.2)
Sodium voltage-gated channel alpha subunit 11



Neuropathy, hereditary sensory, type 1 (14.102, 12.80)
162400
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1



Neuropathy, hereditary sensory, type 1E (14.116)
614116
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1



Neuropathy, hereditary sensory, type ID (15.1, 14.115)
613708
ATL1 (14q22.1)
Atlastin GTPase 1



Neuropathy, hereditary sensory, type IIC (15.39, 14.118, 15.12)
614213
KIF1A (2q37.3)
Kinesin family member 1A



Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (14.133)
256840
CCT5 (5p15.2)
Chaperonin containing TCP1 subunit 5



Neuropathy, recurrent, with pressure palsies (14.1, 14.43, 14.5, 14.6)
162500
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



Neutral lipid storage disease without ichthyosis (9.31)
610717
PNPLA2 (1p15.5)
Adipose triglyceride lipase (desnutrin)



Nonaka myopathy (4.5)
605820
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



Noncompaction of left ventricular myocardium, isolated (10.90, 10.103)
300183
TAZ (Xq28)
Tafazzin