DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 ×

Variant: rs121917752 ×

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:

rs121917752

SCN2A

CUI:	C3150987
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.700

CausalMutation

CLINVAR

Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.

29215089

2018

dbSNP:

rs121917752

SCN2A

CUI:	C3150987
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.700

CausalMutation

CLINVAR

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

23360469

2013

dbSNP:

rs121917752

SCN2A

CUI:	C3150987
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.700

CausalMutation

CLINVAR

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.

15048894

2004