Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 Biomarker CTD_human

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation CLINVAR Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. 7550355

1995

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 Biomarker GENOMICS_ENGLAND Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. 7550355

1995

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. 7550355

1995

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE Merosin-deficient congenital muscular dystrophy (CMD) is caused by mutations in the laminin alpha 2 chain gene. 9027848

1996

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain. 9185180

1997

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation CLINVAR Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis. 9185182

1997

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis. 9185182

1997

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 Biomarker MGD Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy. 9326364

1997

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE This study provides valuable methods for determining the molecular defects in LAMA2 causing merosin deficient congenital muscular dystrophy. 9541105

1998

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation CLINVAR PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. 9541105

1998

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 CausalMutation CLINVAR PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. 9541105

1998

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation CLINVAR Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. 9674786

1998

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 Biomarker MGD Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models. 9710454

1998

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE These data confirm that mutations of the LAMA2 gene that do not completely disrupt the production of the protein can give rise to phenotypes considerably milder than classical merosin-deficient congenital muscular dystrophy. 9829280

1998

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation CLINVAR Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins. 10022829

1999

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation CLINVAR Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy. 10611118

2000

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 Biomarker MGD Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha2-deficiency. 10616210

1999

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation CLINVAR The crystal structure of a laminin G-like module reveals the molecular basis of alpha-dystroglycan binding to laminins, perlecan, and agrin. 10619025

1999

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation CLINVAR Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. Online. 10694916

1998

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation CLINVAR Structure of the C-terminal laminin G-like domain pair of the laminin alpha2 chain harbouring binding sites for alpha-dystroglycan and heparin. 10747011

2000

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. 11053680

2000

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 CausalMutation CLINVAR Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping. 11287370

2001

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 Biomarker GENOMICS_ENGLAND Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 11591858

2001

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation UNIPROT Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 11591858

2001