DisGeNET - a database of gene-disease associations

Source: MGD

Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED ×

Gene: PCSK5 ×

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:	5125
Gene Symbol:	PCSK5

PCSK5

proprotein convertase subtilisin/kexin type 5

0.659

0.538

2.5E-12

CUI:	C3151867
Disease:	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED

disease

0.200

None

0