Source: ORPHANET

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 GermlineCausalMutation ORPHANET Triple A syndrome is caused by mutations in the gene encoding ALADIN, leading to achalasia, alacrima and addisonism. 20674935

2010
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GermlineCausalMutation ORPHANET Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. 11159947

2001
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GermlineCausalMutation ORPHANET Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome. 11815731

2001