Disease table

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

Disease phenotype
OMIM
Gene symbol (chromosome)
protein
naxos disease (10.86, 10.83)
JUP (17q21)
junction plakoglobin

Nemaline myopathy (3.8)
CFL2 (14q12)
cofilin 2 (muscle)

Nemaline myopathy 1, autosomal dominant (3.1, 3.11, 3.28)
TPM3 (1q21.2)
tropomyosin 3

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

Nemaline myopathy 3 (3.9, 3.3, 3.29)
ACTA1 (1q42.1)
alpha actin, skeletal muscle

Nemaline myopathy 4 (3.4, 3.27, 16.8, 16.13, 3.5)
TPM2 (9p13)
tropomyosin 2 (beta)

Nemaline myopathy 5 (3.6)
TNNT1 (19q13.4)
slow troponin T

Nemaline myopathy 6 (3.7)
KBTBD13 (15q22.31)
kelch repeat and BTB (POZ) domain containing 13

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

Neuronopathy, distal hereditary motor, type I (12.9)
? - (7q34-q36)
neuronopathy, distal hereditary motor, type IIC (12.12)
HSPB3 (5q11.2)
Neuronopathy, distal hereditary motor, type V (15.9, 12.15)
BSCL2 (11q12-q13.5)
seipin

Neuronopathy, distal hereditary motor, type VIIB (12.17)
DCTN1 (2p13)
dynactin 1

Neuropathy, axonal motor-sensory, with deafness and mental retardation (14.29)
? - (Xq24-q26.1)
Neuropathy, congenital hypomyelinating (14.2, 14.32, 14.44, 14.45, 14.21, 14.14)
MPZ (1q22)
myelin protein zero

Neuropathy, congenital hypomyelinating (14.4, 14.20, 14.33)
EGR2 (10q21.1)
early growth response 2 protein

Neuropathy, distal hereditary motor type V (14.39, 12.14)
GARS (7p15)
glycyl-tRNA synthetase

Neuropathy, distal hereditary motor, type II (14.47, 12.10)
HSPB8 (12q24.23)
heat shock 27kDa protein 8

Neuropathy, distal hereditary motor, type IIB (14.41, 12.11)
HSPB1 (7q11.23)
heat shock 27kDa protein 1

Neuropathy, distal hereditary motor, with pyramidal features (12.25, 13.41)
SETX (9q34.13)
senataxin

Neuropathy, hereditary motor and sensory, lom type (14.61, 14.19)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1

Neuropathy, hereditary motor and sensory, Okinawa type (14.50)
? - (3q13.1)
neuropathy, hereditary sensory and autonomic type v (14.60)
NGFB (1p13.1)
nerve growth factor (beta polypeptide)

Neuropathy, hereditary sensory and autonomic, type 1 (14.53)
SPTLC1 (9q22.2)
serine palmitoyltransferase subunit 1

Neuropathy, hereditary sensory and autonomic, type IC (14.55)
SPTLC2 (14q24.3)
serine palmitoyltransferase long chain base subunit 2

neuropathy, hereditary sensory and autonomic, type iia (14.58)
WNK1 (12p.13)
WNK lysine deficient protein kinase 1

Neuropathy, hereditary sensory and autonomic, type III (16.3, 14.59)
IKBKAP (9q31-q33)
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein

Neuropathy, hereditary sensory, type 1 (14.53)
SPTLC1 (9q22.2)
serine palmitoyltransferase subunit 1

Neuropathy, hereditary sensory, type 1E (14.62)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1

Neuropathy, hereditary sensory, type ID (14.56)
ATL1 (14q22.1)
atlastin GTPase 1

Neuropathy, hereditary sensory, type IIC (15.33, 14.57)
KIF1A (2q37.3)
kinesin family member 1A

Neuropathy, recurrent, with pressure palsies (14.1, 14.31, 14.5, 14.6)
PMP22 (17p12-p11.2)
peripheral myelin protein 22

Neutral lipid storage disease without ichthyosis (9.23)
PNPLA2 (1p15.5)
adipose triglyceride lipase (desnutrin)

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

Noncompaction of left ventricular myocardium, isolated (10.54, 10.69)
TAZ (Xq28)
tafazzin