DisGeNET - a database of gene-disease associations

Source: CTD_human

Disease: Aortic valve calcification ×

Gene: NOTCH1 ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4851
Gene Symbol:	NOTCH1

NOTCH1

CUI:	C0428791
Disease:	Aortic valve calcification

Aortic valve calcification

0.650

Biomarker

CTD_human

Mutations in NOTCH1 cause aortic valve disease.

2005