Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3897045
Disease: Short Stature Homeobox Deficiency
Short Stature Homeobox Deficiency
0.020 Biomarker disease BEFREE We have recently found that the retinoic acid degrading enzyme CYP26C1 modifies SHOX deficiency phenotypes toward more severe clinical manifestations. 29706635 2018
CUI: C3897045
Disease: Short Stature Homeobox Deficiency
Short Stature Homeobox Deficiency
0.020 Biomarker disease BEFREE Together, our findings describe CYP26C1 as the first genetic modifier for SHOX deficiency. 27861128 2016