Gene: LAMA2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 GeneticVariation disease UNIPROT Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 12552556 2003
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677 2015
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 GeneticVariation disease UNIPROT Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677 2015
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 Biomarker disease 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 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis. 25332755 2014
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 CausalMutation disease CLINVAR Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy. 25124546 2014
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 11591858 2001
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 CausalMutation disease CLINVAR Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level. 17949279 2007
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 CausalMutation 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 Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. 7550355 1995
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 Biomarker disease MGD Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models. 9710454 1998
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 Biomarker disease BEFREE Next, we tested the therapeutic potential of PMO in laminin-alpha2 (laminin-α2) chain-null dy <sup>3K</sup>/dy <sup>3K</sup> mice, a model of merosin-deficient congenital muscular dystrophy 1A (MDC1A) with active muscle regeneration. 30171567 2018
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 CausalMutation 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 BEFREE Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy. 29763467 2018
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 GeneticVariation disease CLINVAR Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 12552556 2003
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 Biomarker disease 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 2013
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 Biomarker disease 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 		1.000 CausalMutation disease CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273 2017
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 20207543 2010
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 CausalMutation disease CLINVAR Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 20207543 2010
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		1.000 CausalMutation disease CLINVAR MDC1A is caused by mutation of the laminin α-2 gene (LAMA2), localized to chromosome 6q22-23. 24223650 2013