DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1275289254 ×

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:

rs1275289254

CAPN3

CUI:	C1869123
Disease:	Limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A

0.700

CausalMutation

CLINVAR

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.

26632398

2016

dbSNP:

rs1275289254

CAPN3

CUI:	C1869123
Disease:	Limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A

0.700

CausalMutation

CLINVAR

Transcriptional and translational effects of intronic CAPN3 gene mutations.

20635405

2010

dbSNP:

rs1275289254

CAPN3

CUI:	C1869123
Disease:	Limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A

0.700

CausalMutation

CLINVAR

Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.

17258832

2007

dbSNP:

rs1275289254

CAPN3

CUI:	C1869123
Disease:	Limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A

0.700

CausalMutation

CLINVAR

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

15689361

2005

dbSNP:

rs1275289254

CAPN3

CUI:	C1869123
Disease:	Limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A

0.700

CausalMutation

CLINVAR

Calpainopathy-a survey of mutations and polymorphisms.

10330340

1999