DisGeNET - a database of gene-disease associations

LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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

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

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

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

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

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

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:

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:

rs117422805

Entrez Id:	3908
Gene Symbol:	LAMA2

LAMA2

CUI:	C1263858
Disease:

Muscular dystrophy congenital, merosin negative

0.700

GeneticVariation

UNIPROT

dbSNP:

rs121913573

Entrez Id:	3908
Gene Symbol:	LAMA2

LAMA2

CUI:	C1263858
Disease:

Muscular dystrophy congenital, merosin negative

0.700

GeneticVariation

UNIPROT

Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.

24611677

2015

dbSNP:

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:

rs121913573

Entrez Id:	3908
Gene Symbol:	LAMA2

LAMA2

CUI:	C1263858
Disease:

Muscular dystrophy congenital, merosin negative

0.700

GeneticVariation

UNIPROT

Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.

12552556

2003

dbSNP:

rs121913573

Entrez Id:	3908
Gene Symbol:	LAMA2

LAMA2

CUI:	C1263858
Disease:

Muscular dystrophy congenital, merosin negative

0.700

GeneticVariation

UNIPROT

Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.

11591858

2001

dbSNP:

rs121913574

Entrez Id:	3908
Gene Symbol:	LAMA2

LAMA2

CUI:	C1263858
Disease:

Muscular dystrophy congenital, merosin negative

0.700

GeneticVariation

UNIPROT

Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.

11591858

2001

dbSNP:

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:

rs121913574

Entrez Id:	3908
Gene Symbol:	LAMA2

LAMA2

CUI:	C1263858
Disease:

Muscular dystrophy congenital, merosin negative

0.700

GeneticVariation

UNIPROT

Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.

24611677

2015

dbSNP:

rs121913574

Entrez Id:	3908
Gene Symbol:	LAMA2

LAMA2

CUI:	C1263858
Disease:

Muscular dystrophy congenital, merosin negative

0.700

GeneticVariation

UNIPROT

Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.

12552556

2003

dbSNP:

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:

rs12193446

Entrez Id:	3908;102723409
Gene Symbol:	LAMA2;LOC102723409

LAMA2;LOC102723409

CUI:	C0020490
Disease:

Hyperopia

0.700

GeneticVariation

GWASCAT

Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

25233373

2014

dbSNP:

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:

rs34367843

Entrez Id:	3908
Gene Symbol:	LAMA2

LAMA2

CUI:	C4748327
Disease:

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23

0.700

GeneticVariation

UNIPROT

Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.

24957499

2014

dbSNP:

rs34367843

Entrez Id:	3908
Gene Symbol:	LAMA2

LAMA2

CUI:	C4748327
Disease:

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23

0.700

GeneticVariation

UNIPROT

Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.

21953594

2011

dbSNP:

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:

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

dbSNP:

rs1889891

Entrez Id:	3908
Gene Symbol:	LAMA2

LAMA2

CUI:	C0027092
Disease:

Myopia

0.010

GeneticVariation

BEFREE

Four tSNPs (rs11743810 in the EGR1 gene; rs2571575, rs9321170, and rs1889891 in the LAMA2 gene) were selected, according to the HapMap database (http://hapmap.ncbi.nlm.nih.gov), and were genotyped using the ligase detection reaction (LDR) approach for 167 Han Chinese nuclear families with extremely highly myopic offspring (<-10.0 diopters) and an independent group with 485 extremely highly myopic cases (<-10.0 diopters) and 499 controls.

26984843

2016