DisGeNET - a database of gene-disease associations

Movement Disorders, C0026650

Variant: rs1555869758 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1555869758

KCNQ2

0.700

GeneticVariation

CLINVAR

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

9425895

1998

dbSNP:

rs1555869758

KCNQ2

0.700

GeneticVariation

CLINVAR

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

24318194

2014

dbSNP:

rs1555869758

KCNQ2

0.700

GeneticVariation

CLINVAR

A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

29129156

2017

dbSNP:

rs1555869758

KCNQ2

0.700

GeneticVariation

CLINVAR

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

26993267

2016