DisGeNET - a database of gene-disease associations

Epileptic encephalopathy, C0543888

Gene: HNRNPU ×

Source: CURATED ×

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	3192
Gene Symbol:	HNRNPU

HNRNPU

0.400

Biomarker

disease

GENOMICS_ENGLAND

De novo mutations in epileptic encephalopathies.

2013

Entrez Id:	3192
Gene Symbol:	HNRNPU

HNRNPU

0.400

Biomarker

disease

GENOMICS_ENGLAND

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

2013

Entrez Id:	3192
Gene Symbol:	HNRNPU

HNRNPU

0.400

Biomarker

disease

GENOMICS_ENGLAND