Source: CLINVAR

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 CLINVAR AAA syndrome--adrenal insufficiency, alacrima and achalasia. 21865313

2012
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 CausalMutation CLINVAR Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome. 22538409

2012
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 CausalMutation CLINVAR AAA syndrome--adrenal insufficiency, alacrima and achalasia. 21865313

2012
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 CausalMutation CLINVAR Triple A syndrome mimicking ALS. 18615337

2008
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 CausalMutation CLINVAR Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation. 16609705

2006
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 CausalMutation CLINVAR The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. 15666842

2004
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 CausalMutation CLINVAR Triple A syndrome: genotype-phenotype assessment. 12752575

2003
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation CLINVAR Clinical and genetic characterization of families with triple A (Allgrove) syndrome. 12429595

2002
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 CausalMutation CLINVAR Clinical and genetic characterization of families with triple A (Allgrove) syndrome. 12429595

2002
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 CausalMutation CLINVAR Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin. 11701718

2001
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 CausalMutation CLINVAR 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 GeneticVariation CLINVAR Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. 11159947

2001