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
Danon disease (5.10)
LAMP2 (Xq24)
lysosomal-associated membrane protein 2 precursor

Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.36)
EYA4 (6q23-24)
eyes absent 4

Dejerine-Sottas neuropathy (14.4, 14.20, 14.33)
EGR2 (10q21.1)
early growth response 2 protein

Dejerine-Sottas neuropathy, autosomal recessive (14.22, 14.34)
PRX (19q13)
periaxin

Dejerine-Sottas Syndrome (14.1, 14.31, 14.5, 14.6)
PMP22 (17p12-p11.2)
peripheral myelin protein 22

Dejerine-Sottas syndrome (14.2, 14.32, 14.44, 14.45, 14.21, 14.14)
MPZ (1q22)
myelin protein zero

Desmin-related myopathy (5.2, 10.35)
DES (2q35)
desmin

Desmin-related myopathy with Mallory bodies (2.14, 5.3, 3.10, 3.21)
SEPN1 (1p36.13)
Selenoprotein N1

Dilated cardiomyopathy due to integrin-linked kinase defect (10.57)
ILK (11p15.5-p15.4)
integrin-linked kinase

Dilated cardiomyopathy due to laminin-alpha4 defect (10.56)
LAMA4 (6q21)
laminin alpha 4

Dilated cardiomyopathy due to myopalladin defect (10.58)
MYPN (10q21.1)
myopalladin

Dilated cardiomyopathy with cardiac ankyrin repeat protein defect (10.60, 10.22)
ANKRD1 (10q23.33)
ankyrin repeat domain 1 (cardiac muscle)

Dilated cardiomyopathy with MURC defect (10.65)
MURC (9q11.1)
muscle-related coiled-coil protein

Dilated cardiomyopathy with MYBPC3 defect (10.4, 3.32, 10.52)
MYBPC3 (11p11.2)
cardiac myosin binding protein-C

Dilated cardiomyopathy with nesprin-1 defect (1.6, 13.47, 16.14, 10.64)
SYNE1 (6q25)
spectrin repeat containing, nuclear envelope 1 (nesprin 1)

dilated cardiomyopathy, 1aa (10.27, 10.23)
ACTN2 (1q42-q43)
actinin alpha2

Dilated cardiomyopathy, 1I (5.2, 10.35)
DES (2q35)
desmin

Dilated Cardiomyopathy, 1L (1.24, 10.38)
SGCD (5q33-q34)
delta-sarcoglycan

Dilated cardiomyopathy, 1N (1.25, 10.40, 2.26)
TCAP (17q12)
telethonin

Dilated cardiomyopathy, with alpha-crystallin defect (5.1, 10.51)
CRYAB (11q22.3-q23.1)
crystallin, alpha B

Distal myopathy with caveolin defect (1.13, 6.6, 5.17, 6.7, 4.11, 10.95, 10.16)
CAV3 (3p25)
caveolin 3

Distal myopathy with VCP defect (5.22, 4.17)
VCP (9p13-p12)
valosin-containing protein

Distal neuronopathy with pyramidal tract signs (12.13)
? - (4q34-q35)
Duchenne muscular dystrophy (1.1, 10.55)
DMD (Xp21.2)
dystrophin


Dysmyelinating leukodystrophy (15.35)
FA2H (16q21-q23.1)
fatty acid 2-hydroxylase

Dyssegmental dysplasia, Silverman-Handmaker type (6.8)
HSPG2 (1p36.1-p34)
perlecan

Dystrophia myotonica (6.1)
DMPK (19q13.3)
myotonic dystrophy protein kinase