Disease table

Disease phenotype
OMIM
Gene symbol (chromosome)
protein
naxos disease
601214
JUP (17q21)
junction plakoglobin

Nemaline myopathy
190990
TPM2 (9p13.2-p13.1)
tropomyosin 2 (beta)

Nemaline myopathy
610687
CFL2 (14q12)
cofilin 2 (muscle)

Nemaline myopathy
609273
? - (15q)
Nemaline myopathy 1, autosomal dominant
161800
TPM3 (1q21-q23)
tropomyosin 3

Nemaline myopathy 2, autosomal recessive
256030
ACTA1 (1q42.13-q42.2)
alpha actin, skeletal muscle

Nemaline myopathy 2, autosomal recessive
256030
NEB (2q22)
nebulin

Nemaline myopathy 4
609285
TPM2 (9p13.2-p13.1)
tropomyosin 2 (beta)

Nemaline myopathy, Amish type
605355
TNNT1 (19q13.4)
slow troponin T

Neuronopathy, distal hereditary motor, type I
182960
? - (7q34-q36)
Neuronopathy, distal hereditary motor, type IIB neuronopathy, distal her
608634
HSPB1 (7q11.23)
heat shock 27kDa protein 1

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

Neuronopathy, distal hereditary motor, type VIIB
607641
DCTN1 (2p13)
dynactin 1

Neuropathy motor and sensory neuropathy, Russe type
605285
? - (10q23.2)
Neuropathy, axonal motor-sensory, with deafness and mental retardation
310490
? - (Xq24-q26.1)
Neuropathy, congenital hypomyelinating
605253
MPZ (1q22)
myelin protein zero

Neuropathy, congenital hypomyelinating
605253
EGR2 (10q21.1)
early growth response 2 protein

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

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

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

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

Neuropathy, hereditary motor and sensory, Okinawa type
604484
? - (3q13.1)
neuropathy, hereditary sensory and autonomic type v
608654
NGFB (1p13.1)
nerve growth factor (beta polypeptide)

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

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

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

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

Neuropathy, motor and sensory, Russe type
605285
? - (10q23.2)
Neuropathy, recurrent, with pressure palsies
162500
PMP22 (17p12-p11.2)
peripheral myelin protein 22

neutral lipid storage disease without ichthyosis
610717
PNPLA2 (1p15.5)
adipose triglyceride lipase (desnutrin)

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

Noncompaction of left ventricular myocardium, isolated
300183
TAZ (Xq28)
tafazzin

Disease phenotype	OMIM	Gene symbol (chromosome) protein
naxos disease	601214	JUP (17q21) junction plakoglobin
Nemaline myopathy	190990	TPM2 (9p13.2-p13.1) tropomyosin 2 (beta)
Nemaline myopathy	610687	CFL2 (14q12) cofilin 2 (muscle)
Nemaline myopathy	609273	? - (15q)
Nemaline myopathy 1, autosomal dominant	161800	TPM3 (1q21-q23) tropomyosin 3
Nemaline myopathy 2, autosomal recessive	256030	ACTA1 (1q42.13-q42.2) alpha actin, skeletal muscle
Nemaline myopathy 2, autosomal recessive	256030	NEB (2q22) nebulin
Nemaline myopathy 4	609285	TPM2 (9p13.2-p13.1) tropomyosin 2 (beta)
Nemaline myopathy, Amish type	605355	TNNT1 (19q13.4) slow troponin T
Neuronopathy, distal hereditary motor, type I	182960	? - (7q34-q36)
Neuronopathy, distal hereditary motor, type IIB neuronopathy, distal her	608634	HSPB1 (7q11.23) heat shock 27kDa protein 1
Neuronopathy, distal hereditary motor, type V	600794	BSCL2 (11q12-q13.5) seipin
Neuronopathy, distal hereditary motor, type VIIB	607641	DCTN1 (2p13) dynactin 1
Neuropathy motor and sensory neuropathy, Russe type	605285	? - (10q23.2)
Neuropathy, axonal motor-sensory, with deafness and mental retardation	310490	? - (Xq24-q26.1)
Neuropathy, congenital hypomyelinating	605253	MPZ (1q22) myelin protein zero
Neuropathy, congenital hypomyelinating	605253	EGR2 (10q21.1) early growth response 2 protein
Neuropathy, distal hereditary motor type V	600794	GARS (7p15) glycyl-tRNA synthetase
Neuropathy, distal hereditary motor, type II	158590	HSPB8 (12q24.23) heat shock 27kDa protein 8
Neuropathy, distal hereditary motor, with pyramidal features	602433	SETX (9q34.13) senataxin
Neuropathy, hereditary motor and sensory, lom type	601455	NDRG1 (8q24.3) N-myc downstream regulated gene 1
Neuropathy, hereditary motor and sensory, Okinawa type	604484	? - (3q13.1)
neuropathy, hereditary sensory and autonomic type v	608654	NGFB (1p13.1) nerve growth factor (beta polypeptide)
Neuropathy, hereditary sensory and autonomic, type 1	162400	SPTLC1 (9q22.2) serine palmitoyltransferase subunit 1
neuropathy, hereditary sensory and autonomic, type iia	201300	WNK1 (12p.13) WNK lysine deficient protein kinase 1
Neuropathy, hereditary sensory and autonomic, type III	223900	IKBKAP (9q31-q33) inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Neuropathy, hereditary sensory, type 1	162400	SPTLC1 (9q22.2) serine palmitoyltransferase subunit 1
Neuropathy, motor and sensory, Russe type	605285	? - (10q23.2)
Neuropathy, recurrent, with pressure palsies	162500	PMP22 (17p12-p11.2) peripheral myelin protein 22
neutral lipid storage disease without ichthyosis	610717	PNPLA2 (1p15.5) adipose triglyceride lipase (desnutrin)
Nonaka myopathy	605820	GNE (9p13.3) UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase
Noncompaction of left ventricular myocardium, isolated	300183	TAZ (Xq28) tafazzin