DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: Hypertrophic Cardiomyopathy ×

Gene: KCNQ1 ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	3784
Gene Symbol:	KCNQ1

KCNQ1

potassium voltage-gated channel subfamily Q member 1

0.485

0.769

4.5E-08

CUI:	C0007194
Disease:	Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy

disease

0.520

1.000

0

2014

2016