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 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 Biomarker 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
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 Biomarker 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
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 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 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

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 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 Biomarker 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
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 BEFREE We describe a novel LAMA2 homozygous sequence variant in a Samoan patient with MDC1A and confirm its pathogenic effect with merosin immunohistochemistry on skeletal muscle biopsy. 26249246

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 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 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