Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker GENOMICS_ENGLAND Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. 30503518

2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.400 Biomarker GENOMICS_ENGLAND Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. 30503518

2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. 30503518

2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.400 Biomarker GENOMICS_ENGLAND Here we describe two unrelated individuals who have pathogenic variants in FUK and who presented with severe developmental delays, encephalopathy, intractable seizures, and hypotonia. 30503518

2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.300 Biomarker GENOMICS_ENGLAND Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. 30503518

2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. 30503518

2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.300 Biomarker GENOMICS_ENGLAND Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. 30503518

2018