LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Disease: Muscular dystrophy congenital, merosin negative ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913572
rs121913572
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 CausalMutation CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677 2015
dbSNP: rs121913572
rs121913572
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 20207543 2010