DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Epileptic encephalopathy ×

Gene: HNRNPU ×

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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	3192
Gene Symbol:	HNRNPU

HNRNPU

CUI:	C0543888
Disease:	Epileptic encephalopathy

Epileptic encephalopathy

0.400

Biomarker

GENOMICS_ENGLAND

De novo mutations in epileptic encephalopathies.

23934111

2013

Entrez Id:	3192
Gene Symbol:	HNRNPU

HNRNPU

CUI:	C0543888
Disease:	Epileptic encephalopathy

Epileptic encephalopathy

0.400

Biomarker

GENOMICS_ENGLAND

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

23708187

2013

Entrez Id:	3192
Gene Symbol:	HNRNPU

HNRNPU

CUI:	C0543888
Disease:	Epileptic encephalopathy

Epileptic encephalopathy

0.400

Biomarker

GENOMICS_ENGLAND