DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE ×

Gene: AARS2 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs543267101

AARS2 ; TMEM151B

CUI:	C4014588
Disease:	LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE

LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE

0.800

GeneticVariation

UNIPROT

Novel (ovario) leukodystrophy related to AARS2 mutations.

24808023

2014

dbSNP:

rs587777590

AARS2

CUI:	C4014588
Disease:	LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE

LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE

0.800

GeneticVariation

UNIPROT

Novel (ovario) leukodystrophy related to AARS2 mutations.

24808023

2014

dbSNP:

rs587777592

AARS2 ; TMEM151B

CUI:	C4014588
Disease:	LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE

LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE

0.800

GeneticVariation

UNIPROT

Novel (ovario) leukodystrophy related to AARS2 mutations.

24808023

2014