Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 Biomarker disease MGD Dystrophia Muscularis: A HEREDITARY PRIMARY MYOPATHY IN THE HOUSE MOUSE. 16589799 1955
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 GeneticVariation disease CLINVAR High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency. 24225367 2014
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 GeneticVariation disease 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
1.000 CausalMutation disease CLINVAR LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 18700894 2008
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 GeneticVariation disease CLINVAR LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 16216942 2005
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 GeneticVariation disease CLINVAR Atypical phenotype in two patients with LAMA2 mutations. 24534542 2014
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 GeneticVariation disease 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
1.000 Biomarker disease 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
1.000 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 Biomarker disease CTD_human
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 Biomarker disease GENOMICS_ENGLAND Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 11591858 2001
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 GeneticVariation disease BEFREE Recessive mutations in LAMA2 commonly cause congenital muscular dystrophy (MDC1A) and, rarely, limb girdle muscular dystrophy (LGMD). 27932089 2017
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 Biomarker disease MGD Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain gene. 12609503 2003
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 GeneticVariation disease BEFREE Recently, these strategies have also been explored in many other genetic disorders, including dysferlin-deficient muscular dystrophy (e.g., Miyoshi myopathy; MM, limb-girdle muscular dystrophy type 2B; LGMD2B, and distal myopathy with anterior tibial onset; DMAT), laminin α2 chain (merosin)-deficient congenital muscular dystrophy (MDC1A), sarcoglycanopathy (e.g., limb-girdle muscular dystrophy type 2C; LGMD2C), and Fukuyama congenital muscular dystrophy (FCMD). 30171536 2018
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 GeneticVariation disease 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
1.000 Biomarker disease MGD Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha2-deficiency. 10616210 1999
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 Biomarker disease MGD Synaptic plasticity in the dy2J mouse model of laminin alpha2-deficient congenital muscular dystrophy. 15823249 2005
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 GeneticVariation disease 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
1.000 GeneticVariation disease CLINVAR Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 28688748 2017
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 GeneticVariation disease 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
1.000 GeneticVariation disease CLINVAR Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases. 27858741 2015
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 CausalMutation disease 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
1.000 GeneticVariation disease CLINVAR LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 18700894 2008
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 GeneticVariation disease BEFREE In Duchenne muscular dystrophy (DMD) and LAMA2-mutated congenital muscular dystrophy (MDC1A) we also quantitated transcript levels of the profibrotic cytokine TGF-beta1. 16183658 2005
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
1.000 GeneticVariation disease BEFREE Merosin-deficient congenital muscular dystrophy (CMD) is caused by mutations in the laminin alpha 2 chain gene. 9027848 1996