AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
Disease: Esophageal Achalasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		0.130 GeneticVariation disease BEFREE We report a nine year old patient with alacrima, optic atrophy and achalasia with mutation in the AAAS gene. 19172511 2009
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		0.130 GeneticVariation disease BEFREE The triple A syndrome is caused by autosomal recessively inherited mutations in the AAAS gene and is characterized by achalasia, alacrima and adrenal insufficiency as well as progressive neurological impairment. 18628786 2008
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		0.130 GeneticVariation disease BEFREE The present study was aimed at identifying possible AAAS gene mutations in patients with established idiopathic non-familial achalasia. 15843079 2005
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		0.130 Biomarker disease HPO