Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.110 Biomarker disease BEFREE We report a girl with a de novo deletion at Xp21.2 on the maternal chromosome, including DAX1, the GK gene and 3' end of the dystrophin gene, who presented with salt losing adrenal insufficiency and moderate developmental delay, but relatively mild features of muscular dystrophy. 18762570 2008
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.110 Biomarker disease HPO