DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Global developmental delay ×

Gene: SCN8A ×

Results per page

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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.120

CausalMutation

CLINVAR

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.120

Biomarker

HPO

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.120

GeneticVariation

CLINVAR