DisGeNET - a database of gene-disease associations

FBXW7, F-box and WD repeat domain containing 7, 55294

N. diseases: 257; N. variants: 16

Disease: Congenital contractural arachnodactyly ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0220668
Disease:	Congenital contractural arachnodactyly

Congenital contractural arachnodactyly

0.030

Biomarker

disease

BEFREE

However, the function of FBW7 in proliferation of cholangiocarcinoma (CCA) remains unknown.

28184929

2017

CUI:	C0220668
Disease:	Congenital contractural arachnodactyly

Congenital contractural arachnodactyly

0.030

Biomarker

disease

BEFREE

Here, we report a crucial role of FBXW7 in CCA metastasis by regulating EMT.

25749036

2015

CUI:	C0220668
Disease:	Congenital contractural arachnodactyly

Congenital contractural arachnodactyly

0.030

GeneticVariation

disease

BEFREE

Most frequent GAs in extrahepatic CCA (n = 20) were TP53 (45%), KRAS (40%), ERBB2 (25%), SMAD4 (25%), FBXW7 (15%) and CDKN2A (15%).

25536104

2014