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: 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
0.800 GeneticVariation UNIPROT Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. 21953594 2011
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: rs886039896
rs886039896
Entrez Id: 3908;102723409
Gene Symbol: LAMA2;LOC102723409
LAMA2;LOC102723409
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
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 Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 11591858 2001
dbSNP: rs121913570
rs121913570
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative
C 0.800 CausalMutation CLINVAR
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: rs886039896
rs886039896
Entrez Id: 3908;102723409
Gene Symbol: LAMA2;LOC102723409
LAMA2;LOC102723409
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative
A 0.800 CausalMutation CLINVAR
dbSNP: rs2571573
rs2571573
Entrez Id: 3908;102723409
Gene Symbol: LAMA2;LOC102723409
LAMA2;LOC102723409
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs6923431
rs6923431
Entrez Id: 3908;102723409
Gene Symbol: LAMA2;LOC102723409
LAMA2;LOC102723409
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9388686
rs9388686
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0037369
Disease:
Smoking
A 0.700 GeneticVariation GWASCAT Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. 30643258 2019
dbSNP: rs1415944134
rs1415944134
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1842898
Disease:
Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
CG 0.700 GeneticVariation CLINVAR Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy. 30301903 2018
dbSNP: rs914395925
rs914395925
Entrez Id: 3908;102723409
Gene Symbol: LAMA2;LOC102723409
LAMA2;LOC102723409
CUI: C1842898
Disease:
Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
G 0.700 GeneticVariation CLINVAR LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes. 30055037 2018
dbSNP: rs121913573
rs121913573
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative
0.700 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031 2017
dbSNP: rs121913574
rs121913574
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative
0.700 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031 2017
dbSNP: rs758775001
rs758775001
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative
T 0.700 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273 2017
dbSNP: rs771046502
rs771046502
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative
C 0.700 GeneticVariation CLINVAR Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 28688748 2017
dbSNP: rs773209126
rs773209126
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative
T 0.700 CausalMutation CLINVAR Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. 28182637 2017
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: rs121913575
rs121913575
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative
T 0.700 CausalMutation CLINVAR Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. 27159402 2016
dbSNP: rs12193446
rs12193446
Entrez Id: 3908;102723409
Gene Symbol: LAMA2;LOC102723409
LAMA2;LOC102723409
CUI: C0027092
Disease:
Myopia
0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs1554269855
rs1554269855
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0026827
Disease:
Muscle hypotonia
TG 0.700 CausalMutation CLINVAR Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy. 26304763 2016