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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs543267101

AARS2 ; TMEM151B

1.000

44300612

missense variant

C/T

snv

4.0E-05

4.2E-05

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

LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE

0.800

1.000

2014

dbSNP:

rs587777590

AARS2

1.000

44313175

missense variant

A/C

snv

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

LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE

0.800

1.000

2014

dbSNP:

rs587777592

AARS2 ; TMEM151B

1.000

44306367

missense variant

C/T

snv

1.6E-05

7.0E-06

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

LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE

0.800

1.000

2014