DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Patent ductus arteriosus ×

Variant: rs121913377 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913377

rs121913377

BRAF

CUI:	C0013274
Disease:	Patent ductus arteriosus

Patent ductus arteriosus

0.010

GeneticVariation

BEFREE

Moreover, concomitant expression of BRAF(V600E) and TP53(R270H) result in lethal PDA.

2012