LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Disease: Congenital muscular dystrophy (disorder) ×
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: C0699743
Disease:
Congenital muscular dystrophy (disorder) 		0.010 GeneticVariation BEFREE Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene. 12601554 2003