DisGeNET - a database of gene-disease associations

Gene: AARS2 ×

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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:	57505
Gene Symbol:	AARS2

AARS2

CUI:	C3711381
Disease:	Hereditary Diffuse Leukoencephalopathy with Spheroids

Hereditary Diffuse Leukoencephalopathy with Spheroids

0.310

GermlineCausalMutation

ORPHANET

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

2016