DisGeNET - a database of gene-disease associations

Muscle hypotonia, C0026827

Variant: rs1555873985 ×

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:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

22926866

2012

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

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

24318194

2014

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

23621294

2013

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

8327138

1993