DisGeNET - a database of gene-disease associations

Fibromatosis, Aggressive, C0079218

Variant: rs1363478606 ×

Source: ALL

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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:

rs1363478606

rs1363478606

PTK2

0.010

GeneticVariation

BEFREE

The majority of desmoid tumors are related to T41A and S45F mutations of the beta-catenin encoding gene (CTNNB1).

2018