Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| L1 cell adhesion molecule | |  * Hydrocephalus with Hirschspung disease and cleft palate - HSCR (15.84)
* CRASH syndrome - L1CAM (15.84)
* MASA syndrome - L1CAM (15.84)
* CRASH syndrome - HSAS (15.84)
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Lactate dehydrogenase A | | * Exertional myoglobinuria due to deficiency of LDH-A - LDHA (9.15)
* Glycogen storage disease XI - GSD11 (9.15)
| Lamin A/C | | * Congenital muscular dystrophy due to LMNA defect (L-CMD) - (1.3, 1.4, 2.17, 10.40, 14.88)
* Cardiomyopathy, dilated, 1A - CMD1A (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)
* Lipodystrophy, familial partial, type 2 - FPLD2 (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)
* Muscular dystrophy, limb-girdle, type 1B - LGMD1B (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)
* Hutchinson-Gilford progeria syndrome - HGPS (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)
* Emery-Dreifuss Autosomal recessive - EDMD3 (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)
* Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)
* Mandibuloacral dysplasia with type a lipodystrophy - MADA (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)
* restrictive dermopathy - (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)
* Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)
| Lamina-associated polypeptide 2 | | * Cardiomyopathy, dilated, 1T - CMT1T (10.58)
| Laminin alpha 2 chain of merosin | | * Muscular dystrophy, congenital merosin-deficient - MDC1A (1.41, 2.1)
* LGMDR23 - (1.41, 2.1)
| Laminin alpha 4 | | * Dilated cardiomyopathy related to laminin-alpha4 - LAMA4 (10.74)
| Laminin, Alpha 5 | | * Presynaptic congenital myasthenic syndrome - (11.38)
| Laminin, beta 2 (laminin S) | | * Congenital myasthenic syndrome with nephrotic syndrome - NPHS5 (11.34)
| LARGE xylosyl- and glucuronyltransferase 1 | | * Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6 (2.23, 2.37)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6 (2.23, 2.37)
| Las1-like ribosome biogenesis factor | | * Spinal muscular atrophy with respiratory distress (SMARD) - (12.50)
| LDL receptor related protein 4 | | * Congenital myasthenic syndrome - CMS17 (11.25)
| Leiomodin 2 | | * Dilated cardiomyopathy, 2G - CMD2G (10.88)
| Leiomodin 3 (fetal) | | * Nemaline myopathy - NEM10 (3.13)
| Leucine rich repeat and sterile alpha motif containing 1 | | * Charcot-Marie-Tooth neuropathy Type 2P - CMT2P (14.68)
| Ligand-Dependent Nuclear Receptor-Interacting Factor 1 | | * Facio-scapulo-humeral muscular dystrophy - FSHD3 (1.12)
| Ligase III DNA ATP-Dependent | | * Mitochondrial DNA depletion syndrome 20 (MNGIE type) - MTDPS20 (16.86)
| LIM and senescent cell antigen-like domains 2 | | * Limb-Girdle, Muscular dystrophy, type 2W - LGMD2W (1.57)
| LIM domain binding 3 | | * cardiomyopathy, dilated 1C - CMD1C (4.19, 5.5, 10.106, 10.26, 10.42)
* Hypertrophic cardiomyopathy related to ZASP - CMH24 (4.19, 5.5, 10.106, 10.26, 10.42)
* Left ventricular noncompaction 3 - LVNC3 (4.19, 5.5, 10.106, 10.26, 10.42)
* myofibrillar myopathy ZASP-related - MFM4 (4.19, 5.5, 10.106, 10.26, 10.42)
| Lipin 1 (phosphatidic acid phosphatase 1) | | * Reccurrent myoglobinuria, autosomal recessive - (9.28)
| Lipopolysaccharide-induced TNF factor | | * Hereditary motor and sensory, type 1C - CMT1C (14.3)
| Low Density Lipoprotein Receptor-Related Protein 10 | | * Amyotrophic lateral sclerosis - (12.85)
| Low density lipoprotein receptor-related protein 12 | | * Oculopharyngodistal myopathy 1 - OPDM1 (5.22, 12.77)
* Amyotrophic lateral sclerosis 28 - ALS28 (5.22, 12.77)
| Lysosomal-associated membrane protein 2 precursor | | * Danon disease - (5.18)
* Glycogen storage disease IIb - GSD2B (5.18)
| Lysyl-tRNA synthetase | | * Axonal neuropathy recessive - CMTRIB (14.24)
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