rs758775001, LAMA2

N. diseases: 2
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 The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273 2017
Muscular dystrophy congenital, merosin negative
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
0.700 CausalMutation CLINVAR Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis. 25332755 2014
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