Gene product 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

Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
L1 cell adhesion molecule
L1CAM (Xq28)

Hydrocephalus with Hirschspung disease and cleft palate -HSCR
CRASH syndrome -L1CAM
MASA syndrome -L1CAM
CRASH syndrome -HSAS
lactate dehydrogenase A
LDHA (11p15.4)

Exertional myoglobinuria due to deficiency of LDH-A -LDHA
lamin A/C
LMNA (1q21.2-q21.3)

Cardiomyopathy, dilated, 1A -CMD1A
Lipodystrophy, familial partial, type 2 -FPLD2
Lipodystrophy, familial partial, type 2 -FPLD2
Muscular dystrophy, limb-girdle, type 1B -LGMD1B
Hutchinson-Gilford progeria syndrome -HGPS
Emery-Dreifuss muscular dystrophy, autosomal dominant -EDMD2
Mandibuloacral dysplasia with type a lipodystrophy -MADA
restrictive dermopathy -
restrictive dermopathy -
Emery-Dreifuss Autosomal recessive -EDMD3
Charcot-Marie-Tooth disease, axonal, type 2B1 -CMT2B1
lamina-associated polypeptide 2
TMPO (12q22)

Cardiomyopathy, dilated, 1T -CMT1T
laminin alpha 2 chain of merosin
LAMA2 (6q22-q23)

Muscular dystrophy, cogenital, due to partial LAMA2 deficiency -MDC1A
Muscular dystrophy, congenital merosin-deficient -LAMM
laminin alpha 4
LAMA4 (6q21)

dilated cardiomyopathy due to laminin-alpha4 defect -LAMA4
like-glycosyltransferase
LARGE (22q12.3-q13.1)

Congenital muscular dystrophy with severe mental retardation -MDC1D
LIM domain binding 3
LDB3 (10q22)

cardiomyopathy, dilated 1C -CMD1C
myofibrillar myopathy ZASP-related -MFMZ
lipopolysaccharide-induced TNF factor
LITAF (16p13.3-p12)

Hereditary motor and sensory, type 1C -CMT1C
lysosomal-associated membrane protein 2 precursor
LAMP2 (Xq24)

Glycogen storage disease IIb -LAMP2
Danon disease -GSD IIb