Source: CLINVAR

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 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 CausalMutation 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
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 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 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 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 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 CausalMutation 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 CausalMutation 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 CausalMutation 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 CLINVAR LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. 25663498

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 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 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 CausalMutation 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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 CausalMutation 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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 CausalMutation 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 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 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 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
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 CausalMutation 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 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 CausalMutation 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
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 CausalMutation CLINVAR LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 16216942

2005