DisGeNET - a database of gene-disease associations

rs794726993, DMD

N. diseases: 3

Disease: Becker Muscular Dystrophy ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Becker Muscular Dystrophy

CUI:	C0917713
Disease:	Becker Muscular Dystrophy

0.700

CausalMutation

CLINVAR

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

28859693

2017

Becker Muscular Dystrophy

CUI:	C0917713
Disease:	Becker Muscular Dystrophy

0.700

CausalMutation

CLINVAR

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

25525159

2015

Becker Muscular Dystrophy

CUI:	C0917713
Disease:	Becker Muscular Dystrophy

0.700

CausalMutation

CLINVAR

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

19937601

2009