Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
L1CAM
L1 cell adhesion molecule
 
 | 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)
|
LAMA2
laminin alpha 2 chain of merosin
| 6q22-q23 | * Muscular dystrophy, congenital merosin-deficient - MDC1A (2.1)
|
LAMA4
laminin alpha 4
| 6q21 | * Dilated cardiomyopathy due to laminin-alpha4 defect - LAMA4 (10.56)
|
LAMB2
laminin, beta 2 (laminin S)
| 3p21 | * Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien - (11.18)
|
LAMP2
lysosomal-associated membrane protein 2 precursor
| Xq24 | * Danon disease - (5.10)
* Glycogen storage disease IIb - GSD2B (5.10)
|
LARGE
like-glycosyltransferase
| 22q12.3-q13.1 | * Congenital muscular dystrophy with severe mental retardation - MDC1D (2.4)
|
LDB3
LIM domain binding 3
| 10q22 | * cardiomyopathy, dilated 1C - CMD1C (4.12, 5.4, 10.29)
* myofibrillar myopathy ZASP-related - MFM4 (4.12, 5.4, 10.29)
|
LDHA
lactate dehydrogenase A
| 11p15.4 | * Exertional myoglobinuria due to deficiency of LDH-A - LDHA (9.13)
* Glycogen storage disease XI - GSD11 (9.13)
|
LITAF
lipopolysaccharide-induced TNF factor
| 16p13.3-p12 | * Hereditary motor and sensory, type 1C - CMT1C (14.3)
|
LMNA
lamin A/C
| 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)
|
LPIN1
Lipin 1 (phosphatidic acid phosphatase 1)
| 2p25.1 | * Reccurrent myoglobinuria, autosomal recessive - (9.25)
|