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 (15.63)
* CRASH syndrome - L1CAM (15.63)
* MASA syndrome - L1CAM (15.63)
* CRASH syndrome - HSAS (15.63)
Lactate dehydrogenase A
LDHA (11p15.4)


* Exertional myoglobinuria due to deficiency of LDH-A - LDHA (9.14)
* Glycogen storage disease XI - GSD11 (9.14)
Lamin A/C
LMNA (1q22)


* Congenital muscular dystrophy due to LMNA defect (L-CMD) - (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Cardiomyopathy, dilated, 1A - CMD1A (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Lipodystrophy, familial partial, type 2 - FPLD2 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Muscular dystrophy, limb-girdle, type 1B - LGMD1B (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Hutchinson-Gilford progeria syndrome - HGPS (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Emery-Dreifuss Autosomal recessive - EDMD3 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Mandibuloacral dysplasia with type a lipodystrophy - MADA (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* restrictive dermopathy - (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
Lamina-associated polypeptide 2
TMPO (12q22)


* Cardiomyopathy, dilated, 1T - CMT1T (10.49)
Laminin alpha 2 chain of merosin
LAMA2 (6q22-q23)


* Muscular dystrophy, congenital merosin-deficient - MDC1A (2.1)
Laminin alpha 4
LAMA4 (6q21)


* Dilated cardiomyopathy related to laminin-alpha4 - LAMA4 (10.59)
Laminin, beta 2 (laminin S)
LAMB2 (3p21)


* Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien - (11.19)
LDL receptor related protein 4
LRP4 (11p11.2)


* Congenital myasthenic syndrome - CMS17 (11.27)
Leiomodin 3 (fetal)
LMOD3 (3p14.1)


* Nemaline myopathy - NEM10 (3.10)
leucine rich repeat and sterile alpha motif containing 1
LRSAM1 (9q33.3)


* Charcot-Marie-Tooth neuropathy Type 2P - CMT2P (14.55)
Like-glycosyltransferase
LARGE (22q12.3-q13.1)


* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6 (2.33)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6 (2.33)
LIM and senescent cell antigen-like domains 2
LIMS2 (2q14.3)


* Limb-Girdle, Muscular dystrophy, type 2W - LGMD2W (1.43)
LIM domain binding 3
LDB3 (10q22)


* cardiomyopathy, dilated 1C - CMD1C (4.12, 5.4, 10.33)
* myofibrillar myopathy ZASP-related - MFM4 (4.12, 5.4, 10.33)
Lipin 1 (phosphatidic acid phosphatase 1)
LPIN1 (2p25.1)


* Reccurrent myoglobinuria, autosomal recessive - (9.27)
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 - (5.12)
* Glycogen storage disease IIb - GSD2B (5.12)
Lysyl-tRNA synthetase
KARS (16q23.1)


* Axonal neuropathy recessive - CMTRIB (14.72)