DisGeNET - a database of gene-disease associations

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:	C0376634
Disease:	Craniofacial Abnormalities

Craniofacial Abnormalities

0.300

Biomarker

CTD_human

Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects.

2007