DOLK, dolichol kinase, 22845

N. diseases: 38; N. variants: 7
Disease: Congenital Disorders of Glycosylation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503904
rs727503904
Entrez Id: 22845;23511
Gene Symbol: DOLK;NUP188
DOLK;NUP188
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