DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Muscular dystrophy congenital, merosin negative ×

Variant: rs756854513 ×

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:

rs756854513

LAMA2

CUI:	C1263858
Disease:	Muscular dystrophy congenital, merosin negative

Muscular dystrophy congenital, merosin negative

0.700

CausalMutation

CLINVAR

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

24611677

2015

dbSNP:

rs756854513

LAMA2

CUI:	C1263858
Disease:	Muscular dystrophy congenital, merosin negative

Muscular dystrophy congenital, merosin negative

0.700

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs756854513

LAMA2

CUI:	C1263858
Disease:	Muscular dystrophy congenital, merosin negative

Muscular dystrophy congenital, merosin negative

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.

20207543

2010