DisGeNET - a database of gene-disease associations

rs104894021, KCNH2

N. diseases: 5

Disease: Short QT Syndrome 1 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Short QT Syndrome 1

CUI:	C1865020
Disease:	Short QT Syndrome 1

0.800

GeneticVariation

UNIPROT

Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

2005

Short QT Syndrome 1

CUI:	C1865020
Disease:	Short QT Syndrome 1

0.800

GeneticVariation

UNIPROT

Sudden death associated with short-QT syndrome linked to mutations in HERG.

2004

Short QT Syndrome 1

CUI:	C1865020
Disease:	Short QT Syndrome 1

0.800

CausalMutation

CLINVAR

Short QT Syndrome 1

CUI:	C1865020
Disease:	Short QT Syndrome 1

0.800

CausalMutation

CLINVAR