Disease: Congenital Disorders of Glycosylation ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Disorders of Glycosylation
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
0.010 GeneticVariation BEFREE Electrospray ionization mass spectrometric (ESI-MS) analysis of transferrin identified a type I congenital disorder of glycosylation; next-generation sequencing demonstrated homozygous p.Q483K DOLK mutations that were confirmed in patient fibroblasts to result in severely reduced substrate binding and catalytic activity. 24144945 2013