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 (9.1, 10.68)

GAN
gigaxonin

16q24.1
* Giant axonal neuropathy-1 - GAN1 (14.65)

GARS
glycyl-tRNA synthetase

7p15
* Neuropathy, distal hereditary motor type V - HMN V (12.14, 14.39)
* Spinal muscular atrophy, distal, type V - DSMAV (12.14, 14.39)
* Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D (12.14, 14.39)

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 (9.3)

GDAP1
ganglioside-induced differentiation-associated protein 1

8q13-q21
* Charcot-Marie-Tooth disease, type 4A - CMT4A (14.15, 14.46)
* Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A (14.15, 14.46)
* Charcot-Marie-Tooth disease, type 2K - CMT2K (14.15, 14.46)

GDF8
myostatin, muscular hypertrophy

2Q32
* Muscle hypertrophy - MSLHP (5.15)

GFPT1
glutamine-fructose-6-phosphate transaminase 1

2p12-p15
* Myastenia, Limb-Girdle, With tubular aggregates - LGM (11.16)

GJA5
connexin 40

1q21.1
* atrial fibrillation, familial, 1 - ATFB1 (10.109, 10.110)

GJB1
gap junction protein, beta 1, 32kDa (connexin 32)

Xq13.1
* Charcot-Marie-Tooth neuropathy, X-linked - CMTX1 (14.26, 14.33)

GLE1
GLE1 RNA export mediator homolog (yeast)

9q34.11
* Lethal congenital contracture syndrome 1 - LCCS1 (12.33)

GNE
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase

9p13.3
* Inclusion body myopathy, autosomal recessive - IBM2 (4.3)
* Nonaka myopathy - NM (4.3)

GPD1L
glycerol-3-phosphate dehydrogenase 1-like

3p22.3
* brugada syndrome 2 - (10.112)

GYG1

3q24
* Glycogen storage disease XV - GSD15 (9.8)

GYS1
glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)

19q13.3
* glycogen storage disease type 0 - GSD0b (9.9)