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
EGR2
early growth response 2 protein

10q21.1
Dejerine-Sottas neuropathy -DSN
Neuropathy, congenital hypomyelinating -CHN
Charcot-Marie-Tooth neuropathy Type 4E -CMT4E
Charcot-Marie-Tooth disease, type 1D -CMT1D
EMD
emerin



Xq28
Emery-dreifuss muscular dystrophy 1 -EDMD1
ENO3
enolase 3, beta muscle specific

17pter-p11
Enolase deficiency -ENO3
ERBB3
v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)


12q13
lethal congenital contracture syndrome 2 -LCCS2
ETFA
electron-transfer-flavoprotein, alpha polypeptide

15q23-q25
Multiple acyl-CoA dehydrogenase deficiency -MADD
ETFB
electron-transfer-flavoprotein, beta polypeptide

19q13.3-q13.4
Electron transfer flavoprotein, Beta polypeptide -ETFB
ETFDH
electron-transferring-flavoprotein dehydrogenase

4q32-q35
Gluatric aciduria IIc, included -GAIIC
multiple acyl-coa dehydrogenase deficiency -MADD
EYA4
eyes absent 4

6q23-24
Deafness, autosomal dominant nonsyndromic sensorineural 10 -DFNA10
Cardiomyopathy, dilated, 1J -CMD1J