DisGeNET - a database of gene-disease associations

TREM2, triggering receptor expressed on myeloid cells 2, 54209

N. diseases: 239; N. variants: 28

Disease: Chorea ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0008489
Disease:	Chorea

Chorea

0.110

GeneticVariation

phenotype

BEFREE

Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation.

2018

CUI:	C0008489
Disease:	Chorea

Chorea

0.110

Biomarker

phenotype

HPO