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
GAA
acid alpha-glucosidase preproprotein

17q25.2-q25.3
Glycogen storage disease II -GSDII
GAN
gigaxonin

16q24.1
Giant axonal neuropathy-1 -GAN1
GARS
glycyl-tRNA synthetase

7p15
Spinal muscular atrophy, distal, type V -DSMAV
Neuropathy, distal hereditary motor type V -HMN V
Charcot-Marie-Tooth disease, axonal, type 2D -CMT2D
GBE1
glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)

3p12
Glycogen branching enzyme deficiency -GSD IV
GDAP1
ganglioside-induced differentiation-associated protein 1

8q21.11
Charcot-Marie-Tooth disease, mixed axonal and demyelinating type -CMT4A
Charcot-Marie-Tooth disease, type 4A -CMT4A
Charcot-Marie-Tooth disease, type 2G -CMT2G
Charcot-Marie-Tooth disease, type 2K -CMT2K
GDF8
myostatin, muscular hypertrophy

2Q32
Myostatin -MSTN
GJA5
connexin 40

1q21.1
atrial fibrillation, familial, 1 -ATFB1
GJB1
gap junction protein, beta 1, 32kDa (connexin 32)

Xq13.1
Dejerine-Sottas hypertrophic neuropathy, recessive -
Charcot-Marie-Tooth neuropathy, X-linked -CMTX1
GLE1
GLE1 RNA export mediator homolog (yeast)


9q34.11
lethal congenital contracture syndrome 1 -LCCS1
GNE
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase

9p13.3
Inclusion body myopathy, autosomal recessive -IBM2
Nonaka myopathy -NM
GPD1L
glycerol-3-phosphate dehydrogenase 1-like


3p22.3
brugada syndrome 2 -
GSN
gelsolin

9q33
Amyloidosis, Finnish type -GSN
GYS1
glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)

19q13.3
glycogen storage disease type 0 -GSD0b