DisGeNET - a database of gene-disease associations

SPI1, Spi-1 proto-oncogene, 6688

N. diseases: 58; N. variants: 11

Disease: Alzheimer's Disease ×

The Variant filter does not apply in GDA tabs

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0002395
Disease:	Alzheimer's Disease

Alzheimer's Disease

0.120

GeneticVariation

disease

GWASCAT

GWAS on family history of Alzheimer's disease.

29777097

2018

CUI:	C0002395
Disease:	Alzheimer's Disease

Alzheimer's Disease

0.120

Biomarker

disease

BEFREE

Combined with primary genetic association results, the SPI1 and MEF2 transcriptional networks appear central to AD risk mechanisms.

29482603

2018

CUI:	C0002395
Disease:	Alzheimer's Disease

Alzheimer's Disease

0.120

AlteredExpression

disease

BEFREE

Our results suggest that lower SPI1 expression reduces AD risk by regulating myeloid gene expression and cell function.

28628103

2017