Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation 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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation CLINVAR LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 16216942

2005
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation CLINVAR Atypical phenotype in two patients with LAMA2 mutations. 24534542

2014
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation 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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation 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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation 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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation 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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation CLINVAR Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases. 27858741

2015
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation CLINVAR LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 18700894

2008
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation 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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation 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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677

2015
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation UNIPROT Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677

2015
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation UNIPROT Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 11591858

2001
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation CLINVAR Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 12552556

2003