DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Shoulder girdle weakness ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

TTN antisense RNA 1

0.599

0.577

CUI:	C0427063
Disease:	Shoulder girdle weakness

Shoulder girdle weakness

phenotype

0.100

None

Entrez Id:	23534
Gene Symbol:	TNPO3

TNPO3

transportin 3

0.663

0.577

1.8E-06

CUI:	C0427063
Disease:	Shoulder girdle weakness

Shoulder girdle weakness

phenotype

0.100

None

Entrez Id:	7273
Gene Symbol:	TTN

TTN

titin

0.470

0.885

2.6E-96

CUI:	C0427063
Disease:	Shoulder girdle weakness

Shoulder girdle weakness

phenotype

0.100

None

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

calpain 3

0.564

0.615

3.6E-19

CUI:	C0427063
Disease:	Shoulder girdle weakness

Shoulder girdle weakness

phenotype

0.100

None