DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Gene: AAAS ×

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

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	8086
Gene Symbol:	AAAS

AAAS

aladin WD repeat nucleoporin

0.601

0.654

2.4E-13

CUI:	C0271742
Disease:	Glucocorticoid deficiency with achalasia

Glucocorticoid deficiency with achalasia

disease

0.800

None

0.980

0

2000

2019