Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.010 GeneticVariation disease BEFREE The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer. 27595546 2016