DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I ×

Variant: rs748087383 ×

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:

rs748087383

FKRP

CUI:	C1846672
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I

0.700

CausalMutation

CLINVAR

Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy.

28629604

2017

dbSNP:

rs748087383

FKRP

CUI:	C1846672
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I

0.700

CausalMutation

CLINVAR

First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy.

26320847

2016

dbSNP:

rs748087383

FKRP

CUI:	C1846672
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I

0.700

CausalMutation

CLINVAR

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

15833426

2005