Gene 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

Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

DAG1
Dystroglycan1 (dystrophin-associated glycoprotein 1)

3p21
* Muscular dystrophy-dystroglycanopathy (limb-girdle) - MDDGC7 (1.35)

DCTN1
dynactin 1

2p13
* Neuronopathy, distal hereditary motor, type VIIB - HMN7B (12.17)

DES
desmin

2q35
* Desmin-related myopathy - DRM (5.2, 10.35)
* Myofibrillar myopathy, desmin-related myopathy - (5.2, 10.35)
* Dilated cardiomyopathy, 1I - CMD1I (5.2, 10.35)

DMD
dystrophin


Xp21.2
* Becker muscular distrophy - BMD (1.1, 10.55)
* Cardiomyopathy, dilated, X-linked - XLCM (1.1, 10.55)
* Cardiomyopathy, Dilated, 3B - CMD3B (1.1, 10.55)
* Duchenne muscular dystrophy - DMD (1.1, 10.55)

DMPK
myotonic dystrophy protein kinase

19q13.3
* Steinert disease - DM1 (6.1)
* Myotonic dystrophy 1 - DM1 (6.1)
* Dystrophia myotonica - DM (6.1)

DNAJB6
HSP-40 homologue, subfamily B, number 6

7q36
* Limb girdle muscular dystrophy 1D (autosomal dominant) - LGMD1D (1.14)

DNM2
dynamin 2

19p13.2
* centronuclear myopathy, dominant - CNM (2.25, 3.15, 4.15, 14.12)

DNMT1
DNA (cytosine-5)-methyltransferase 1

19p13.2
* Hereditary sensory neuropathy with dementia and hearing loss - (14.62)
* Neuropathy, hereditary sensory, type 1E - HSN1E (14.62)

DOK7
docking protein 7

4p16.2
* Familial limb-girdle myasthenia - LGM (11.15)

DSC2
desmocollin 2

18q12.1
* Arrhythmogenic right ventricular dysplasia, 11 - ARVD11 (10.82)

DSG2
desmoglein 2

18q12.1
* Arrhythmogenic right ventricular dysplasia, 10 - ARVD10 (10.81)

DSP
desmoplakin

6p24
* Arrhythmogenic right ventricular dysplasia, 8 - ARVD8 (10.79)

DTNA
dystrobrevin, alpha

18q12
* Left ventricular noncompaction, familial isolated - LVNC (10.70)
* Left ventricular noncompaction with congenital heart defects - (10.70)

DUX4
double homeobox 4

4q35
* Muscular dystrophy, facioscapulohumeral - FSHD (1.9)
* Muscular dystrophy, facioscapulohumeral, type 1A - FSHD1A (1.9)

DYNC1H1
dynein, cytoplasmic 1, heavy chain 1

14q32.31
* Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O (14.49)

DYSF
dysferlin

2p12-14
* Muscular dystrophy, limb-girdle, type 2B - LGMD2B (1.20, 4.1)
* Miyoshi myopathy - MM (1.20, 4.1)