DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Seizures ×

Gene: SPTAN1 ×

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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:	6709
Gene Symbol:	SPTAN1

SPTAN1

CUI:	C0036572
Disease:	Seizures

Seizures

0.120

CausalMutation

CLINVAR

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

2015

Entrez Id:	6709
Gene Symbol:	SPTAN1

SPTAN1

CUI:	C0036572
Disease:	Seizures

Seizures

0.120

CausalMutation

CLINVAR

Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.

2013