DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Glucocorticoid deficiency with achalasia ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	8086
Gene Symbol:	AAAS

AAAS

CUI:	C0271742
Disease:	Glucocorticoid deficiency with achalasia

Glucocorticoid deficiency with achalasia

0.800

GeneticVariation

UNIPROT

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

2001