DisGeNET - a database of gene-disease associations

Gene: SQSTM1 ×

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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:	8878
Gene Symbol:	SQSTM1

SQSTM1

CUI:	C3888102
Disease:	Frontotemporal Dementia With Motor Neuron Disease

Frontotemporal Dementia With Motor Neuron Disease

0.400

GermlineCausalMutation

ORPHANET

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

2013