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 Biomarker CTD_human

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 with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. 11053680

2000
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 1A (MDC1A) results from mutations in the LAMA2 gene. 20207543

2010
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 (MDC1A) is a form of CMD caused by a defect in the laminin-α2 gene (LAMA2). 22952766

2012
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 CausalMutation CLINVAR MDC1A is caused by mutation of the laminin α-2 gene (LAMA2), localized to chromosome 6q22-23. 24223650

2013
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GermlineCausalMutation ORPHANET MDC1A is caused by mutation of the laminin α-2 gene (LAMA2), localized to chromosome 6q22-23. 24223650

2013
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 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 Biomarker MGD Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha2-deficiency. 10616210

1999
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
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

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 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 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 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 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 CausalMutation CLINVAR Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 23326386

2013
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 CausalMutation CLINVAR Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. 28182637

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 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 Biomarker GENOMICS_ENGLAND 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 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 CausalMutation CLINVAR Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. 27159402

2016
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 Biomarker MGD Dystrophia Muscularis: A HEREDITARY PRIMARY MYOPATHY IN THE HOUSE MOUSE. 16589799

1955
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation BEFREE 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 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 Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 20207543

2010
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 CausalMutation CLINVAR Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 20207543

2010