DisGeNET - a database of gene-disease associations

Aortic Valve Disease 1, C3887892

Variant: rs1057515423 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057515423

NOTCH1

0.700

CausalMutation

CLINVAR

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.

27760138

2016

dbSNP:

rs1057515423

NOTCH1

0.700

CausalMutation

CLINVAR

Mutations in NOTCH1 cause aortic valve disease.

16025100

2005