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
LAMP2 (Xq24)
lysosomal-associated membrane protein 2 precursor

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

Dejerine-Sottas hypertrophic neuropathy, recessive
GJB1 (Xq13.1)
gap junction protein, beta 1, 32kDa (connexin 32)

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

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

Dejerine-Sottas Syndrome
PMP22 (17p12-p11.2)
peripheral myelin protein 22

Dejerine-Sottas syndrome
MPZ (1q22)
myelin protein zero

Desmin-related myopathy
CRYAB (11q22.3-q23.1)
crystallin, alpha B

Desmin-related myopathy with Mallory bodies
SEPN1 (1p36.13)
Selenoprotein N1

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

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

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

Duchenne muscular dystrophy
DMD (Xp21.2)
dystrophin

dynamin2 related distal myopathy
DNM2 (19p13.2)
dynamin 2

dysautonomia familial , riley-day syndrome
IKBKAP (9q31-q33)
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein

Dysautonomia, familial
IKBKAP (9q31-q33)
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein

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

Dystransthyretinemic hyperthyroxinemia
TTR (18q12.1)
transthyretin (prealbumin, amyloidosis type I)

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