rs121913570
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
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
rs121913570
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
0.800
GeneticVariation
UNIPROT
Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.
24611677
2015
rs147077184
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
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
rs147077184
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
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
rs121913570
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
0.800
GeneticVariation
UNIPROT
Consensus statement on standard of care for congenital muscular dystrophies.
21078917
2010
rs886039896
LAMA2;LOC102723409
Muscular dystrophy congenital, merosin negative
0.800
GeneticVariation
UNIPROT
Consensus statement on standard of care for congenital muscular dystrophies.
21078917
2010
rs121913570
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
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
rs121913570
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
0.800
GeneticVariation
UNIPROT
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.
11591858
2001
rs121913570
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
C
0.800
CausalMutation
CLINVAR
rs147077184
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
T
0.800
CausalMutation
CLINVAR
rs886039896
LAMA2;LOC102723409
Muscular dystrophy congenital, merosin negative
A
0.800
CausalMutation
CLINVAR
rs2571573
LAMA2;LOC102723409
Body Height
0.700
GeneticVariation
GWASCAT
Characterizing rare and low-frequency height-associated variants in the Japanese population.
31562340
2019
rs6923431
LAMA2;LOC102723409
Body Height
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs9388686
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
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
rs1415944134
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
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
rs914395925
LAMA2;LOC102723409
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
rs121913573
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
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
rs121913574
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
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
rs758775001
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
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
rs771046502
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
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
rs773209126
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
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
rs1209130981
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.
26304763
2016
rs121913575
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscular dystrophy congenital, merosin negative
T
0.700
CausalMutation
CLINVAR
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
27159402
2016
rs12193446
LAMA2;LOC102723409
Myopia
0.700
GeneticVariation
GWASCAT
Detection and interpretation of shared genetic influences on 42 human traits.
27182965
2016
rs1554269855
×
Entrez Id:
3908
Gene Symbol:
LAMA2
LAMA2
Muscle hypotonia
TG
0.700
CausalMutation
CLINVAR
Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.
26304763
2016