Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1
CUI: C1970344
Disease: Congenital Disorder Of Glycosylation, Type IIF
Congenital Disorder Of Glycosylation, Type IIF 		0.610 Biomarker GENOMICS_ENGLAND A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation. 30115659

2018
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1
CUI: C1970344
Disease: Congenital Disorder Of Glycosylation, Type IIF
Congenital Disorder Of Glycosylation, Type IIF 		0.610 Biomarker GENOMICS_ENGLAND A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation. 30115659

2018
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1
CUI: C1970344
Disease: Congenital Disorder Of Glycosylation, Type IIF
Congenital Disorder Of Glycosylation, Type IIF 		0.610 Biomarker GENOMICS_ENGLAND Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. 28856833

2017
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1
CUI: C1970344
Disease: Congenital Disorder Of Glycosylation, Type IIF
Congenital Disorder Of Glycosylation, Type IIF 		0.610 Biomarker GENOMICS_ENGLAND Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid. 25552652

2015
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.400 Biomarker GENOMICS_ENGLAND A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation. 30115659

2018
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker GENOMICS_ENGLAND Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. 28856833

2017
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.320 Biomarker GENOMICS_ENGLAND

Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1
CUI: C0019080
Disease: Hemorrhage
Hemorrhage 		0.300 Biomarker GENOMICS_ENGLAND A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation. 30115659

2018
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		0.300 Biomarker GENOMICS_ENGLAND Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. 15576474

2005