LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Disease: Muscular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation disease LHGDN LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy. 18053718 2008
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE We suggest that expression profiling will provide important information to improve our understanding of the molecular basis of laminin alpha-2 positive MDC. 17010933 2006
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease LHGDN Laminin alpha1 chain mediated reduction of laminin alpha2 chain deficient muscular dystrophy involves integrin alpha7beta1 and dystroglycan. 16504180 2006
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease LHGDN Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. 16084089 2005
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation disease LHGDN LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy. 15452315 2004
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation disease LHGDN Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 12552556 2003
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 AlteredExpression disease LHGDN Laminin alpha2 deficiency and muscular dystrophy; genotype-phenotype correlation in mutant mice. 12609502 2003
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation disease LHGDN Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients. 12467726 2003
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation disease LHGDN Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). 11938437 2002
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation disease BEFREE Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping. 11287370 2001
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation disease BEFREE An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22. 10726842 1998
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation disease CLINVAR
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease HPO