Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 197258
Gene Symbol: FCSK
FCSK 		fucose kinase 0.769 0.192 1.0E-29
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK 		fucose kinase 0.769 0.192 1.0E-29
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK 		fucose kinase 0.769 0.192 1.0E-29
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK 		fucose kinase 0.769 0.192 1.0E-29
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK 		fucose kinase 0.769 0.192 1.0E-29
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		group 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK 		fucose kinase 0.769 0.192 1.0E-29
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK 		fucose kinase 0.769 0.192 1.0E-29
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease 0.300 moderate 1.000 1 0 2018 2018