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

A potassium channel mutation in neonatal human epilepsy.

9430594

1998

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

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

9425895

1998

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

8327138

1993

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone.

6965523

1980