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 GeneticVariation BEFREE Congenital muscular dystrophy type MDC1A is caused by mutations in laminin α2 that either reduce its expression or impair its ability to polymerize within the muscle fiber BM. 28218619

2017

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE We describe a novel LAMA2 homozygous sequence variant in a Samoan patient with MDC1A and confirm its pathogenic effect with merosin immunohistochemistry on skeletal muscle biopsy. 26249246

2016

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 Biomarker BEFREE Approximately, 15.12 Mb upstream in 6q22-q23 is located LAMA2, the gene responsible of merosin-deficient congenital muscular dystrophy type 1A (MDC1A). 25124546

2016

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2016

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 Biomarker BEFREE Inflammation and fibrosis are well-defined mechanisms involved in the pathogenesis of the incurable Laminin α2-deficient congenital muscular dystrophy (MDC1A), while apoptosis mechanism is barely discussed. 25766329

2015

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 Biomarker BEFREE Here, we present seven patients with partial or total laminin alpha-2 deficiency (MDC1A) with a wide clinical spectrum, ranging from ambulant patients to patients who were never able to stand or sit. 24225367

2015

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE In our previous work, genetic interventions in the Lama2(Dy-w) mouse model for MDC1A demonstrated that limited regeneration and uncontrolled apoptosis are important drivers of this disease. 23773998

2014

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 Biomarker BEFREE Next, we tested the therapeutic potential of PMO for laminin-α2 chain-null dy(3K)/dy(3K) mice: a model of merosin-deficient congenital muscular dystrophy (MDC1A) with active muscle regeneration. 23882132

2014

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE We have previously identified a zebrafish model of MDC1A called candyfloss (caf), carrying a loss-of-function mutation in the zebrafish lama2 gene. 22859503

2013

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 CausalMutation CLINVAR Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. 23757202

2013

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE Merosin deficient congenital muscular dystrophy (MDC1A) is a form of CMD caused by a defect in the laminin-α2 gene (LAMA2). 22952766

2013

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 Biomarker BEFREE To identify the mechanisms underlying this loss of nerve function, we have examined pathology and cell differentiation in sciatic nerves and ventral roots of the laminin-α2-deficient (Lama2(-/-)) mice, which are models for MDC1A. 21505075

2011

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE Mutations in the LAMA2 gene result in a complete loss of merosin and underlie a severe congenital type of muscular dystrophy (MDC1A).We investigated the clinical, genetic, and histological basis of late-onset muscular dystrophy in one family. 21922472

2011

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 Biomarker MGD Proinflammatory signals and the loss of lymphatic vessel hyaluronan receptor-1 (LYVE-1) in the early pathogenesis of laminin alpha2-deficient skeletal muscle. 20876525

2011

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE Bax-mediated muscle cell death is a significant contributor to the severe neuromuscular pathology seen in the Lama2-null mouse model of MDC1A. 19692349

2010

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE Merosin deficient congenital muscular dystrophy 1A (MDC1A) results from mutations in the LAMA2 gene. 20207543

2010

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE This intrafamilial clinical variability in two siblings occurring with the same mutation in LAMA2 gene emphasizes the importance of the postnatal follow-up in the confirmation of prenatal diagnosis, and suggests that other genetic or epigenetic factors can monitor the course of the MDC1A form. 19072569

2009

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 CausalMutation CLINVAR Our results corroborate the previous few genotype/phenotype correlations in MDC1A and illustrate the importance of screening for gross rearrangements in the LAMA2 gene, which may be underestimated in the literature. 18700894

2009

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE Our results corroborate the previous few genotype/phenotype correlations in MDC1A and illustrate the importance of screening for gross rearrangements in the LAMA2 gene, which may be underestimated in the literature. 18700894

2009

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 CausalMutation CLINVAR Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the LAMA2 gene encoding laminin-alpha2. 18700894

2009

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression. 18406646

2009

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
1.000 GeneticVariation BEFREE Genetic analyses showed a linkage to the MDC1A locus for the patient's family, and DNA sequencing revealed in the propositus of a new homozygous mutation in the donor splice site of intron 58 of the LAMA2 gene. 17949279

2008