LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 Biomarker group BEFREE LAMA2-deficient congenital muscular dystrophy (LAMA2-CMD) is a fatal degenerative muscle disease resulting from mutations in the LAMA2 gene encoding Laminin-α2. 29566247 2018
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 Biomarker group BEFREE Congenital muscular dystrophy with laminin α2 chain-deficiency (LAMA2-CMD) is a severe muscle disorder with complex underlying pathogenesis. 30389963 2018
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 GeneticVariation group BEFREE Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-α2 (LAMA2) gene. 30055037 2018
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 Biomarker group BEFREE Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy. 28087121 2017
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 GeneticVariation group BEFREE Congenital muscular dystrophy type 1A (MDC1A) is a severe muscle disorder caused by mutations in the LAMA2 gene. 28367954 2017
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 Biomarker group BEFREE LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. 25663498 2015
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 GeneticVariation group BEFREE Mutations in the LAMA2 gene cause laminin α‑2 (merosin)‑deficient congenital muscular dystrophies, which are autosomal recessive muscle disorders. 25544356 2015
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 Biomarker group BEFREE Inhibition of TGFβ signaling by Losartan treatment greatly improved the phenotype of myopathies associated with laminin-α2-deficient congenital muscular dystrophy. 22918531 2012
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 Biomarker group BEFREE Blocking apoptosis ameliorates muscle disease in some mouse models of muscular dystrophy such as laminin α-2-deficient mice, but not in others such as dystrophin-deficient (mdx) mice. 21199860 2011
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 AlteredExpression group BEFREE Muscle-specific BCL2 expression ameliorates muscle disease in laminin {alpha}2-deficient, but not in dystrophin-deficient, mice. 15757977 2005