DisGeNET - a database of gene-disease associations

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

N. diseases: 157; N. variants: 18

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:

rs587777491

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

30351409

2018

dbSNP:

rs587777492

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

30351409

2018

dbSNP:

rs587777493

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

30351409

2018

dbSNP:

rs587777494

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

30351409

2018

dbSNP:

rs587777495

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

30351409

2018

dbSNP:

rs587777491

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs587777492

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs587777493

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs587777494

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs587777495

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs587777491

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

24747641

2014

dbSNP:

rs587777492

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

24747641

2014

dbSNP:

rs587777493

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

24747641

2014

dbSNP:

rs587777494

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

24747641

2014

dbSNP:

rs587777495

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

24747641

2014

dbSNP:

rs1057519547

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1057519547

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

CausalMutation

CLINVAR

dbSNP:

rs1057519547

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

CLINVAR

dbSNP:

rs1057519548

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1057519548

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777491

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777492

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777493

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777494

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777495

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

CUI:	C4014531
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

0.800

CausalMutation

CLINVAR