Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
L1CAML1 cell adhesion molecule | Xq28 | * CRASH syndrome - L1CAM (15.84) * CRASH syndrome - HSAS (15.84) * MASA syndrome - L1CAM (15.84) * Hydrocephalus with Hirschspung disease and cleft palate - HSCR (15.84)
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LAMA2Laminin alpha 2 chain of merosin | 6q22-q23 | * Muscular dystrophy, congenital merosin-deficient - MDC1A (1.41, 2.1) * LGMDR23 - (1.41, 2.1)
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| 6q21 | * Dilated cardiomyopathy related to laminin-alpha4 - LAMA4 (10.74)
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| 20q13.33 | * Presynaptic congenital myasthenic syndrome - (11.38)
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LAMB2Laminin, beta 2 (laminin S) | 3p21 | * Congenital myasthenic syndrome with nephrotic syndrome - NPHS5 (11.34)
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LAMP2Lysosomal-associated membrane protein 2 precursor | Xq24 | * Danon disease - (5.18) * Glycogen storage disease IIb - GSD2B (5.18)
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LARGE1LARGE xylosyl- and glucuronyltransferase 1 | 22q12.3 | * 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)
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LAS1LLas1-like ribosome biogenesis factor | Xq12 | * Spinal muscular atrophy with respiratory distress (SMARD) - (12.50)
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| 10q22 | * myofibrillar myopathy ZASP-related - MFM4 (4.19, 5.5, 10.106, 10.26, 10.42) * 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)
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LDHALactate dehydrogenase A | 11p15.4 | * Glycogen storage disease XI - GSD11 (9.15) * Exertional myoglobinuria due to deficiency of LDH-A - LDHA (9.15)
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LIG3Ligase III DNA ATP-Dependent | 17q12 | * Mitochondrial DNA depletion syndrome 20 (MNGIE type) - MTDPS20 (16.86)
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LIMS2LIM and senescent cell antigen-like domains 2 | 2q14.3 | * Limb-Girdle, Muscular dystrophy, type 2W - LGMD2W (1.57)
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LITAFLipopolysaccharide-induced TNF factor | 16p13.3-p12 | * Hereditary motor and sensory, type 1C - CMT1C (14.3)
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| 1q22 | * Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 (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) * 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) * Lipodystrophy, familial partial, type 2 - FPLD2 (1.3, 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) * Congenital muscular dystrophy due to LMNA defect (L-CMD) - (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) * Emery-Dreifuss Autosomal recessive - EDMD3 (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)
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| 7q31.32 | * Dilated cardiomyopathy, 2G - CMD2G (10.88)
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| 3p14.1 | * Nemaline myopathy - NEM10 (3.13)
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LPIN1Lipin 1 (phosphatidic acid phosphatase 1) | 2p25.1 | * Reccurrent myoglobinuria, autosomal recessive - (9.28)
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LRIF1Ligand-Dependent Nuclear Receptor-Interacting Factor 1 | 1p13.3 | * Facio-scapulo-humeral muscular dystrophy - FSHD3 (1.12)
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LRP10Low Density Lipoprotein Receptor-Related Protein 10 | 14q11.2 | * Amyotrophic lateral sclerosis - (12.85)
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LRP12Low density lipoprotein receptor-related protein 12 | 8q22.3 | * Oculopharyngodistal myopathy 1 - OPDM1 (5.22, 12.77) * Amyotrophic lateral sclerosis 28 - ALS28 (5.22, 12.77)
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LRP4LDL receptor related protein 4 | 11p11.2 | * Congenital myasthenic syndrome - CMS17 (11.25)
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LRSAM1Leucine rich repeat and sterile alpha motif containing 1 | 9q33.3 | * Charcot-Marie-Tooth neuropathy Type 2P - CMT2P (14.68)
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