Source: ALL

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 BEFREE This is the first report of a triple A syndrome patient with a homozygous deletion of the entire AAAS gene. 31071487

2019
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation BEFREE Here, we explored the consequences of the homozygous AAAS mutation c.464G>A (p.R155H) in central nervous system tissues and fibroblasts of a novel AS patient presenting motor neuron disease, cerebellar ataxia, and autonomic dysfunction. 31600784

2019
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 Biomarker BEFREE It is known that ALADIN knock-out mice lack a phenotype resembling human triple A syndrome. 29362278

2018
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation BEFREE Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report. 29866068

2018
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation BEFREE Whole exome sequencing revealed bi-allelic AAAS nonsense mutations; one individual was homozygous for the p.(Arg478*) mutation, and two siblings were homozygous for the p.(Arg286*) mutation, leading to the diagnosis of triple A syndrome. 30381913

2018
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation BEFREE Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome. 27414811

2016
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation BEFREE Two unrelated families clinically diagnosed with Allgrove syndrome were evaluated for sequence variations in the AAAS gene. 26595337

2016
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation BEFREE Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty. 25781531

2015
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 BEFREE Our in vitro data in AAAS-knockdown adrenal and neuronal cells not only corroborates previous studies implicating oxidative stress in this disorder but also provides further insights into the pathogenic mechanisms in triple A syndrome. 23825130

2013
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 GeneticVariation BEFREE We performed mutational screening of the AAAS gene in a Greek family of four individuals, including an affected propositus with typical symptoms of late-onset triple A syndrome. 23073554

2013
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation BEFREE Clinical and genetic characterization of a Chinese patient with triple A syndrome and novel compound heterozygous mutations in the AAAS gene. 23327820

2013
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation BEFREE We analyse long-term clinical follow-up and results of sequencing of the AAAS gene in eight patients with triple A syndrome aged from 2 to 35 years. 22538409

2012
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 GeneticVariation BEFREE Five unrelated families clinically diagnosed with Allgrove Syndrome were evaluated for sequence variations in the AAAS gene. 21565631

2011
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation BEFREE Sequencing of the AAAS gene causing autosomal recessive Triple A syndrome did not reveal mutations. 21744492

2011
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation BEFREE Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome. 20200814

2010
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation BEFREE Allgrove syndrome is characterized by mutation(s) in AAAS gene, located on chromosome 12q13, that codes for ALADIN protein. 20687490

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 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 BEFREE The ALADIN protein (for alacrima/achalasia/adrenal insufficiency/neurologic disorder) was identified as the molecular basis of triple A syndrome. 20374727

2009
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation BEFREE Triple A syndrome is a rare genetic disorder caused by mutations in the achalasia-addisonianism-alacrima syndrome (AAAS) gene which encodes a tryptophan aspartic acid (WD) repeat-containing protein named alacrima-achalasia-adrenal insufficiency neurologic disorder (ALADIN). 19322026

2009
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.800 GeneticVariation BEFREE Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene. 19172511

2009