LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1209130981
rs1209130981
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy. 26304763 2016
dbSNP: rs1209130981
rs1209130981
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Merosin-deficient congenital muscular dystrophy type 1A: A case report. 24223650 2013
dbSNP: rs1209130981
rs1209130981
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. 21953594 2011
dbSNP: rs1209130981
rs1209130981
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 20207543 2010
dbSNP: rs1209130981
rs1209130981
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 18700894 2008
dbSNP: rs1209130981
rs1209130981
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 12552556 2003