DisGeNET - a database of gene-disease associations

HNRNPU, heterogeneous nuclear ribonucleoprotein U, 3192

N. diseases: 116; N. variants: 16

Disease: Epileptic encephalopathy ×

Variant: rs1135401734 ×

Source: ALL

Results per page

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1135401734

Entrez Id:	3192;106635532
Gene Symbol:	HNRNPU;SNORA100

HNRNPU;SNORA100

CUI:	C0543888
Disease:

Epileptic encephalopathy

0.700

CausalMutation

CLINVAR

Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

28815871

2017