AMY2B, amylase alpha 2B, 280

N. diseases: 9; N. variants: 1
Disease: Ichthyoses ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.010 GeneticVariation disease BEFREE We also presented a novel form of ichthyosis in a patient, termed hepoxilin A(3) synthase-linked ichthyosis (HXALI), whose scales expressed high levels of 12R-LOX, but were deficient of HXA(3) synthase. 18086569 2008