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 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 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 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 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 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 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 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
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 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 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 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 GeneticVariation disease CLINVAR Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 12552556 2003