rs398123372, LAMA2

N. diseases: 1
Disease: Muscular dystrophy congenital, merosin negative ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscular dystrophy congenital, merosin negative
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
0.700 CausalMutation CLINVAR Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 20207543 2010
Muscular dystrophy congenital, merosin negative
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
0.700 CausalMutation CLINVAR LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 16216942 2005