LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913570
rs121913570
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		0.800 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031 2017
dbSNP: rs121913570
rs121913570
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		0.800 GeneticVariation UNIPROT Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677 2015
dbSNP: rs121913570
rs121913570
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		0.800 GeneticVariation UNIPROT Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 12552556 2003
dbSNP: rs121913570
rs121913570
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917 2010
dbSNP: rs121913570
rs121913570
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121913570
rs121913570
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		0.800 GeneticVariation UNIPROT Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 11591858 2001
dbSNP: rs147077184
rs147077184
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C4748327
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		0.800 GeneticVariation UNIPROT Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. 21953594 2011
dbSNP: rs147077184
rs147077184
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C4748327
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		0.800 GeneticVariation UNIPROT Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy. 24957499 2014
dbSNP: rs147077184
rs147077184
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C4748327
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1018100729
rs1018100729
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 GeneticVariation CLINVAR LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 16216942 2005
dbSNP: rs1018100729
rs1018100729
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs1055407857
rs1055407857
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1064797040
rs1064797040
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1064797327
rs1064797327
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1131691660
rs1131691660
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1131691660
rs1131691660
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs117422805
rs117422805
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		0.700 GeneticVariation UNIPROT
dbSNP: rs1180309541
rs1180309541
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: rs1209130981
rs1209130981
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		C 0.700 GeneticVariation CLINVAR
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 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 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 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 study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 12552556 2003
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