DisGeNET - a database of gene-disease associations

KCNQ2, potassium voltage-gated channel subfamily Q member 2, 3785

N. diseases: 175; N. variants: 211

Disease: Generalized hypotonia ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

CausalMutation

phenotype

CLINVAR

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

phenotype

HPO