Source: CURATED

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 Biomarker GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582

2015
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 Biomarker CTD_human In order to investigate the changes in differential gene expression in ALADIN-deficient or mutated cells under oxidative stress we used fibroblast cell cultures of triple A syndrome patients and compared these to controls. 23315990

2013
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 Biomarker CTD_human Dysphagia due to triple A syndrome: successful treatment of achalasia by balloon dilatation. 17853339

2007
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. 11159947

2001
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
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 Biomarker GENOMICS_ENGLAND Mutant WD-repeat protein in triple-A syndrome. 11062474

2000
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker CTD_human The bromodomain protein BRD4 regulates the KEAP1/NRF2-dependent oxidative stress response. 24763052

2014
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker CTD_human The bromodomain protein BRD4 regulates the KEAP1/NRF2-dependent oxidative stress response. 24763052

2014