Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
naxos disease (10.93, 10.89)
601214
JUP (17q21)
Junction plakoglobin



Nemaline myopathy (3.7)
610687
CFL2 (14q12)
Cofilin 2 (muscle)



Nemaline myopathy (3.9)
615731
KLHL41 (2q31.1)
Kelch-like family member 41



Nemaline myopathy (3.10)
616165
LMOD3 (3p14.1)
Leiomodin 3 (fetal)



Nemaline myopathy 1, autosomal dominant (3.1, 3.13, 3.37)
609284
TPM3 (1q21.2)
Tropomyosin 3



Nemaline myopathy 2, autosomal recessive (3.2, 4.10)
256030
NEB (2q22)
Nebulin



Nemaline myopathy 3 (3.11, 3.3, 3.38, 2.44)
161800
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



Nemaline myopathy 4 (3.4, 3.36, 16.8, 16.13)
609285
TPM2 (9p13)
Tropomyosin 2 (beta)



Nemaline myopathy 5 (3.5)
605355
TNNT1 (19q13.4)
Slow troponin T



Nemaline myopathy 6 (3.6)
609273
KBTBD13 (15q22.31)
Kelch repeat and BTB (POZ) domain containing 13



Nesprin-2 related muscular dystrophy (1.7)
612999
SYNE2 (14q23.2)
Spectrin repeat containing, nuclear envelope 2 (nesprin 2)



Neurodegeneration with brain iron accumulation 4 (15.38)
614298
C19orf12 (19q12)
chromosome 19 open reading frame 12 (M)



Neuronopathy, distal hereditary motor, type I (12.9)
182960
? - (7q34-q36)
neuronopathy, distal hereditary motor, type IIC (12.12)
613376
HSPB3 (5q11.2)
Heat shock 27kDa protein 3



Neuronopathy, distal hereditary motor, type V (15.9, 12.15)
600794
BSCL2 (11q12-q13.5)
Seipin



Neuronopathy, distal hereditary motor, type VIIB (12.18, 12.61)
607641
DCTN1 (2p13)
Dynactin 1



Neuropathy, axonal motor-sensory, with deafness and mental retardation (14.33)
310490
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, mitochondrionassociated 1 (M)



Neuropathy, congenital hypomyelinating (14.2, 14.37, 14.49, 14.50, 14.24, 14.14)
605253
MPZ (1q22)
Myelin protein zero



Neuropathy, congenital hypomyelinating (14.4, 14.23, 14.38)
605253
EGR2 (10q21.1)
Early growth response 2 protein



Neuropathy, distal hereditary motor type V (14.44, 12.14)
600794
GARS (7p15)
Glycyl-tRNA synthetase



Neuropathy, distal hereditary motor, type II (14.52, 12.10)
158590
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



Neuropathy, distal hereditary motor, type IIB (14.46, 12.11)
608634
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



Neuropathy, distal hereditary motor, with pyramidal features (12.40, 13.51)
602433
SETX (9q34.13)
Senataxin



Neuropathy, hereditary motor and sensory, lom type (14.22, 14.91)
601455
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



Neuropathy, hereditary motor and sensory, Okinawa type (14.63, 15.52)
604484
TFG (3q13)
TRK-fused gene



neuropathy, hereditary sensory and autonomic type v (14.87)
608654
NGF (1p13.1)
Nerve growth factor (beta polypeptide)



Neuropathy, hereditary sensory and autonomic, type 1 (14.76)
162400
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1



Neuropathy, hereditary sensory and autonomic, type IC (14.78)
613640
SPTLC2 (14q24.3)
Serine palmitoyltransferase long chain base subunit 2



neuropathy, hereditary sensory and autonomic, type iia (14.81)
201300
WNK1 (12p.13)
WNK lysine deficient protein kinase 1



Neuropathy, hereditary sensory and autonomic, type IID (14.84)
243000
SCN9A (2q24.3)
sodium voltage-gated channel alpha subunit 9



Neuropathy, hereditary sensory and autonomic, type III (16.3, 14.85)
223900
IKBKAP (9q31-q33)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



Neuropathy, hereditary sensory and autonomic, type VII (14.89)
615548
SCN11A (3p22.2)
sodium voltage-gated channel alpha subunit 11



Neuropathy, hereditary sensory, type 1 (14.76)
162400
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1



Neuropathy, hereditary sensory, type 1E (14.92)
614116
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1



Neuropathy, hereditary sensory, type ID (15.1, 14.79)
613708
ATL1 (14q22.1)
Atlastin GTPase 1



Neuropathy, hereditary sensory, type IIC (15.34, 14.83)
614213
KIF1A (2q37.3)
Kinesin family member 1A



Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (14.100)
256840
CCT5 (5p15.2)
chaperonin containing TCP1 subunit 5



Neuropathy, recurrent, with pressure palsies (14.1, 14.36, 14.5, 14.6)
162500
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



Neutral lipid storage disease without ichthyosis (9.25)
610717
PNPLA2 (1p15.5)
Adipose triglyceride lipase (desnutrin)



Nonaka myopathy (4.3)
605820
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



Noncompaction of left ventricular myocardium, isolated (10.57, 10.75)
300183
TAZ (Xq28)
Tafazzin