Gene product table

Protein

Gene Symbol

All allelic disease phenotypes - locus/disease symbols

L1 cell adhesion molecule

L1CAM (Xq28)

* Hydrocephalus with Hirschspung disease and cleft palate - HSCR (15.43)

* CRASH syndrome - L1CAM (15.43)

* MASA syndrome - L1CAM (15.43)

* CRASH syndrome - HSAS (15.43)

lactate dehydrogenase A

LDHA (11p15.4)

* Exertional myoglobinuria due to deficiency of LDH-A - LDHA (9.13)

* Glycogen storage disease XI - GSD11 (9.13)

lamin A/C

LMNA (1q21.2-q21.3)

* Cardiomyopathy, dilated, 1A - CMD1A (1.4, 1.5, 1.12, 10.26, 14.51)

* Lipodystrophy, familial partial, type 2 - FPLD2 (1.4, 1.5, 1.12, 10.26, 14.51)

* Muscular dystrophy, limb-girdle, type 1B - LGMD1B (1.4, 1.5, 1.12, 10.26, 14.51)

* Hutchinson-Gilford progeria syndrome - HGPS (1.4, 1.5, 1.12, 10.26, 14.51)

* Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 (1.4, 1.5, 1.12, 10.26, 14.51)

* Mandibuloacral dysplasia with type a lipodystrophy - MADA (1.4, 1.5, 1.12, 10.26, 14.51)

* restrictive dermopathy - (1.4, 1.5, 1.12, 10.26, 14.51)

* Emery-Dreifuss Autosomal recessive - EDMD3 (1.4, 1.5, 1.12, 10.26, 14.51)

* Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 (1.4, 1.5, 1.12, 10.26, 14.51)

lamina-associated polypeptide 2

TMPO (12q22)

* Cardiomyopathy, dilated, 1T - CMT1T (10.46)

laminin alpha 2 chain of merosin

LAMA2 (6q22-q23)

* Muscular dystrophy, congenital merosin-deficient - MDC1A (2.1)

laminin alpha 4

LAMA4 (6q21)

* Dilated cardiomyopathy due to laminin-alpha4 defect - LAMA4 (10.56)

laminin, beta 2 (laminin S)

LAMB2 (3p21)

* Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien - (11.18)

like-glycosyltransferase

LARGE (22q12.3-q13.1)

* Congenital muscular dystrophy with severe mental retardation - MDC1D (2.4)

LIM domain binding 3

LDB3 (10q22)

* cardiomyopathy, dilated 1C - CMD1C (4.12, 5.4, 10.29)

* myofibrillar myopathy ZASP-related - MFM4 (4.12, 5.4, 10.29)

Lipin 1 (phosphatidic acid phosphatase 1)

LPIN1 (2p25.1)

* Reccurrent myoglobinuria, autosomal recessive - (9.25)

lipopolysaccharide-induced TNF factor

LITAF (16p13.3-p12)

* Hereditary motor and sensory, type 1C - CMT1C (14.3)

lysosomal-associated membrane protein 2 precursor

LAMP2 (Xq24)

* Danon disease - (5.10)

* Glycogen storage disease IIb - GSD2B (5.10)