DisGeNET - a database of gene-disease associations

rs757917335, DYSF

N. diseases: 6

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.800

GeneticVariation

CLINVAR

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

26436962

2015

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.800

GeneticVariation

CLINVAR

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.

27647186

2016

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

CUI:	C1850889
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

0.800

GeneticVariation

CLINVAR

Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy.

28104817

2017