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: 10559
Gene Symbol: SLC35A1
SLC35A1 		solute carrier family 35 member A1 0.601 0.654 0.68
CUI: C1970344
Disease: Congenital Disorder Of Glycosylation, Type IIF
Congenital Disorder Of Glycosylation, Type IIF 		disease 0.610 None 1.000 3 0 2015 2018
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1 		solute carrier family 35 member A1 0.601 0.654 0.68
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 moderate 1.000 1 0 2017 2017
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1 		solute carrier family 35 member A1 0.601 0.654 0.68
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		disease 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1 		solute carrier family 35 member A1 0.601 0.654 0.68
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		group 0.320 moderate 1.000 0 0 2013 2016
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1 		solute carrier family 35 member A1 0.601 0.654 0.68
CUI: C0019080
Disease: Hemorrhage
Hemorrhage 		phenotype 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1 		solute carrier family 35 member A1 0.601 0.654 0.68
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		disease 0.300 moderate 1.000 1 0 2005 2005