DisGeNET - a database of gene-disease associations

DUX4, double homeobox 4, 100288687

N. diseases: 79; N. variants: 0

Disease: Undifferentiated (Embryonal) Sarcoma ×

Source: ALL

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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:	C0855073
Disease:	Undifferentiated (Embryonal) Sarcoma

Undifferentiated (Embryonal) Sarcoma

0.030

Biomarker

disease

BEFREE

Primary Spinal Epidural CIC-DUX4 Undifferentiated Sarcoma in a Child.

28474974

2019

CUI:	C0855073
Disease:	Undifferentiated (Embryonal) Sarcoma

Undifferentiated (Embryonal) Sarcoma

0.030

GeneticVariation

disease

BEFREE

A t(4;19) pediatric undifferentiated sarcoma with a novel variant of the CIC-DUX4 fusion transcript.

28062084

2017

CUI:	C0855073
Disease:	Undifferentiated (Embryonal) Sarcoma

Undifferentiated (Embryonal) Sarcoma

0.030

GeneticVariation

disease

BEFREE

The present study describes a new case of EWSR1-negative undifferentiated sarcoma with CIC/DUX4 gene fusion.

24213312

2013