DisGeNET - a database of gene-disease associations

Gene: SCN1A ×

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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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6323
Gene Symbol:	SCN1A

SCN1A

CUI:	C3714756
Disease:	Intellectual Disability

Intellectual Disability

0.420

Biomarker

CTD_human

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

2017