Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb
0.010 GeneticVariation disease BEFREE Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient. 31729179 2020