DOLK, dolichol kinase, 22845

N. diseases: 38; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853109
rs137853109
Entrez Id: 22845;23511
Gene Symbol: DOLK;NUP188
DOLK;NUP188
CUI: C1835849
Disease:
Congenital Disorder Of Glycosylation, Type Im 		0.800 GeneticVariation UNIPROT A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. 17273964 2007
dbSNP: rs137853110
rs137853110
Entrez Id: 22845;23511
Gene Symbol: DOLK;NUP188
DOLK;NUP188
CUI: C1835849
Disease:
Congenital Disorder Of Glycosylation, Type Im 		0.800 GeneticVariation UNIPROT A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. 17273964 2007
dbSNP: rs137853109
rs137853109
Entrez Id: 22845;23511
Gene Symbol: DOLK;NUP188
DOLK;NUP188
CUI: C1835849
Disease:
Congenital Disorder Of Glycosylation, Type Im 		T 0.800 CausalMutation CLINVAR
dbSNP: rs137853110
rs137853110
Entrez Id: 22845;23511
Gene Symbol: DOLK;NUP188
DOLK;NUP188
CUI: C1835849
Disease:
Congenital Disorder Of Glycosylation, Type Im 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1564545929
rs1564545929
Entrez Id: 22845;23511
Gene Symbol: DOLK;NUP188
DOLK;NUP188
CUI: C1835849
Disease:
Congenital Disorder Of Glycosylation, Type Im 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1564546510
rs1564546510
Entrez Id: 22845;23511
Gene Symbol: DOLK;NUP188
DOLK;NUP188
CUI: C1835849
Disease:
Congenital Disorder Of Glycosylation, Type Im 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387907030
rs387907030
Entrez Id: 22845;23511
Gene Symbol: DOLK;NUP188
DOLK;NUP188
CUI: C1835849
Disease:
Congenital Disorder Of Glycosylation, Type Im 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587777137
rs587777137
Entrez Id: 22845;23511
Gene Symbol: DOLK;NUP188
DOLK;NUP188
CUI: C1835849
Disease:
Congenital Disorder Of Glycosylation, Type Im 		G 0.700 CausalMutation CLINVAR
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