Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795887
Disease: Complex Glycerol Kinase Deficiency
Complex Glycerol Kinase Deficiency
0.010 GeneticVariation disease BEFREE Our data are consistent with the association of IL1RAPL1 gene deletion and MR in the majority of patients with cGKD and deletions extending telomeric from DAX1. 15300857 2004