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 (15.72)
* CRASH syndrome - L1CAM (15.72)
* MASA syndrome - L1CAM (15.72)
* CRASH syndrome - HSAS (15.72)
Lactate dehydrogenase A
LDHA (11p15.4)


* Exertional myoglobinuria due to deficiency of LDH-A - LDHA (9.15)
* Glycogen storage disease XI - GSD11 (9.15)
Lamin A/C
LMNA (1q22)


* Congenital muscular dystrophy due to LMNA defect (L-CMD) - (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
* Cardiomyopathy, dilated, 1A - CMD1A (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
* Lipodystrophy, familial partial, type 2 - FPLD2 (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
* Muscular dystrophy, limb-girdle, type 1B - LGMD1B (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
* Hutchinson-Gilford progeria syndrome - HGPS (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
* Emery-Dreifuss Autosomal recessive - EDMD3 (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
* Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
* Mandibuloacral dysplasia with type a lipodystrophy - MADA (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
* restrictive dermopathy - (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
* Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
Lamina-associated polypeptide 2
TMPO (12q22)


* Cardiomyopathy, dilated, 1T - CMT1T (10.55)
Laminin alpha 2 chain of merosin
LAMA2 (6q22-q23)


* Muscular dystrophy, congenital merosin-deficient - MDC1A (1.54, 2.1)
* LGMDR23 - (1.54, 2.1)
Laminin alpha 4
LAMA4 (6q21)


* Dilated cardiomyopathy related to laminin-alpha4 - LAMA4 (10.71)
Laminin, Alpha 5
LAMA5 (20q13.33)


* Presynaptic congenital myasthenic syndrome - (11.38)
Laminin, beta 2 (laminin S)
LAMB2 (3p21)


* Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien - (11.34)
LARGE xylosyl- and glucuronyltransferase 1
LARGE1 (22q12.3)


* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6 (2.34)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6 (2.34)
LDL receptor related protein 4
LRP4 (11p11.2)


* Congenital myasthenic syndrome - CMS17 (11.25)
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 (14.60)
Ligand-Dependent Nuclear Receptor-Interacting Factor 1
LRIF1 (1p13.3)

* Facio-scapulo-humeral muscular dystrophy - FSHD3 (1.12)
Ligase III DNA ATP-Dependent
LIG3 (17q12)


* Mitochondrial neurogastrointestinal encephalomyopathy - (16.86)
LIM and senescent cell antigen-like domains 2
LIMS2 (2q14.3)


* Limb-Girdle, Muscular dystrophy, type 2W - LGMD2W (1.60)
LIM domain binding 3
LDB3 (10q22)


* cardiomyopathy, dilated 1C - CMD1C (4.14, 5.5, 10.25, 10.39, 10.94)
* Hypertrophic cardiomyopathy related to ZASP - CMH24 (4.14, 5.5, 10.25, 10.39, 10.94)
* Left ventricular noncompaction 3 - LVNC3 (4.14, 5.5, 10.25, 10.39, 10.94)
* myofibrillar myopathy ZASP-related - MFM4 (4.14, 5.5, 10.25, 10.39, 10.94)
Lipin 1 (phosphatidic acid phosphatase 1)
LPIN1 (2p25.1)


* Reccurrent myoglobinuria, autosomal recessive - (9.28)
Lipopolysaccharide-induced TNF factor
LITAF (16p13.3-p12)


* Hereditary motor and sensory, type 1C - CMT1C (14.3)
Low Density Lipoprotein Receptor-Related Protein 10
LRP10 (14q11.2)


* Amyotrophic lateral sclerosis - (12.76)
Low density lipoprotein receptor-related protein 12
LRP12 (8q22.3)


* Oculopharyngodistal myopathy 1 - OPDM1 (5.19)
Lysosomal-associated membrane protein 2 precursor
LAMP2 (Xq24)


* Danon disease - (5.15)
* Glycogen storage disease IIb - GSD2B (5.15)
Lysyl-tRNA synthetase
KARS (16q23.1)


* Axonal neuropathy recessive - CMTRIB (14.83)