DisGeNET - a database of gene-disease associations

HCN1, hyperpolarization activated cyclic nucleotide gated potassium channel 1, 348980

N. diseases: 157; N. variants: 18

Disease: Epileptic encephalopathy ×

Variant: rs1057519547 ×

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:

rs1057519547

rs1057519547

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C0543888
Disease:

Epileptic encephalopathy

T

0.700

GeneticVariation

CLINVAR