DisGeNET - a database of gene-disease associations

Congenital ear anomaly NOS (disorder), C0266589

Gene: KCNQ1 ×

Source: ALL

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	3784
Gene Symbol:	KCNQ1

KCNQ1

0.110

GeneticVariation

group

BEFREE

Inner ear abnormalities in a Kcnq1 (Kvlqt1) knockout mouse: a model of Jervell and Lange-Nielsen syndrome.

2005

Entrez Id:	3784
Gene Symbol:	KCNQ1

KCNQ1

0.110

Biomarker

group

HPO