AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
Disease: Alacrima ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344505
Disease: Alacrima
Alacrima 		0.150 Biomarker disease BEFREE The AAAS gene product is the nuclear pore complex protein alacrima-achalasia-adrenal insufficiency neurological disorder (ALADIN), of unknown function. 23825130 2013
CUI: C0344505
Disease: Alacrima
Alacrima 		0.150 Biomarker disease BEFREE Careful assessment for alacrima followed by molecular genetic analysis of AAAS should be considered in patients who show a combined phenotype of motor neuron disease and sensory/autonomic disturbance, even in elderly patients. 20674935 2010
CUI: C0344505
Disease: Alacrima
Alacrima 		0.150 GeneticVariation disease BEFREE Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. 18628786 2008
CUI: C0344505
Disease: Alacrima
Alacrima 		0.150 GeneticVariation disease BEFREE Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus. 15843079 2005
CUI: C0344505
Disease: Alacrima
Alacrima 		0.150 GeneticVariation disease BEFREE Allgrove's syndrome, i.e., achalasia, addisonianism, alacrima (OMIM 231550) is an autosomal recessive disorder recently associated with the AAAS gene coding for the Aladin protein. 12717251 2003
CUI: C0344505
Disease: Alacrima
Alacrima 		0.150 Biomarker disease HPO