DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Deficiency of glycerol kinase ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268418
Disease: Deficiency of glycerol kinase
Deficiency of glycerol kinase 		0.020 Biomarker disease BEFREE We designed a multiplex PCR assay for the detection and mapping of a contiguous deletion potentially affecting the IL1RAPL1, NR0B1, GK, and DMD genes in a 29-month-old male patient with GKD. 16887896 2006
CUI: C0268418
Disease: Deficiency of glycerol kinase
Deficiency of glycerol kinase 		0.020 GeneticVariation disease BEFREE Molecular mapping revealed that the deletion extended from the 3' end of the DMD gene to a site telomeric to the loci for X-linked congenital adrenal hypoplasia and glycerol kinase deficiency. 7955386 1994