DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1 ×

Variant: rs118192211 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs118192211

rs118192211

KCNQ2

CUI:	C3149074
Disease:	SEIZURES, BENIGN FAMILIAL NEONATAL, 1

SEIZURES, BENIGN FAMILIAL NEONATAL, 1

C

0.700

CausalMutation

CLINVAR

Benign familial neonatal convulsions: always benign?

2007