Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22845
Gene Symbol: DOLK
DOLK
CUI: C1835849
Disease: Congenital Disorder Of Glycosylation, Type Im
Congenital Disorder Of Glycosylation, Type Im 		0.720 Biomarker GENOMICS_ENGLAND Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype. 28816422

2017
Entrez Id: 22845
Gene Symbol: DOLK
DOLK
CUI: C1835849
Disease: Congenital Disorder Of Glycosylation, Type Im
Congenital Disorder Of Glycosylation, Type Im 		0.720 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 22845
Gene Symbol: DOLK
DOLK
CUI: C1835849
Disease: Congenital Disorder Of Glycosylation, Type Im
Congenital Disorder Of Glycosylation, Type Im 		0.720 Biomarker GENOMICS_ENGLAND Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation. 23890587

2013
Entrez Id: 22845
Gene Symbol: DOLK
DOLK
CUI: C1835849
Disease: Congenital Disorder Of Glycosylation, Type Im
Congenital Disorder Of Glycosylation, Type Im 		0.720 Biomarker GENOMICS_ENGLAND Human DOLK deficiency, also known as DOLK-CDG or CDG-Im, results in a syndrome that has been reported to manifest with dilated cardiomyopathy of variable severity. 24144945

2013
Entrez Id: 22845
Gene Symbol: DOLK
DOLK
CUI: C1835849
Disease: Congenital Disorder Of Glycosylation, Type Im
Congenital Disorder Of Glycosylation, Type Im 		0.720 Biomarker GENOMICS_ENGLAND Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. 22242004

2011
Entrez Id: 22845
Gene Symbol: DOLK
DOLK
CUI: C1835849
Disease: Congenital Disorder Of Glycosylation, Type Im
Congenital Disorder Of Glycosylation, Type Im 		0.720 Biomarker GENOMICS_ENGLAND