AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151467
Disease: Addisonian crisis
Addisonian crisis
0.010 GeneticVariation disease BEFREE In all children with mutation in AAAS gene, regular follow up of adrenal function is necessary to avoid adrenal crisis and start substitution therapy as soon as adrenal insufficiency is noted. 20499090 2010