DisGeNET - a database of gene-disease associations

SCN2A, sodium voltage-gated channel alpha subunit 2, 6326

N. diseases: 232; N. variants: 108

Disease: Cortical Dysplasia ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0431380
Disease:	Cortical Dysplasia

Cortical Dysplasia

0.110

Biomarker

disease

BEFREE

Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.

2017

CUI:	C0431380
Disease:	Cortical Dysplasia

Cortical Dysplasia

0.110

Biomarker

disease

HPO