Gene: SLC2A10 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 Biomarker disease CTD_human
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 Biomarker disease GENOMICS_ENGLAND Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13. 14569121 2003
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 Biomarker disease GENOMICS_ENGLAND GLUT10 deficiency is associated with upregulation of the TGFbeta pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome, in which aortic aneurysms associate with arterial tortuosity. 16550171 2006
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 CausalMutation disease CLINVAR GLUT10 deficiency is associated with upregulation of the TGFbeta pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome, in which aortic aneurysms associate with arterial tortuosity. 16550171 2006
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 GeneticVariation disease BEFREE Mutations in one of these genes, SLC2A10, encoding the facilitative glucose transporter GLUT10, were identified in six ATS families. 16550171 2006
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 GermlineCausalMutation disease ORPHANET GLUT10 deficiency is associated with upregulation of the TGFbeta pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome, in which aortic aneurysms associate with arterial tortuosity. 16550171 2006
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 GeneticVariation disease UNIPROT GLUT10 deficiency is associated with upregulation of the TGFbeta pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome, in which aortic aneurysms associate with arterial tortuosity. 16550171 2006
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 CausalMutation disease CLINVAR Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome. 17163528 2007
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 GeneticVariation disease CLINVAR As such, overt diabetes is not related to SLC2A10 mutations associated with ATS. 17935213 2008
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 Biomarker disease GENOMICS_ENGLAND As such, overt diabetes is not related to SLC2A10 mutations associated with ATS. 17935213 2008
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 CausalMutation disease CLINVAR As such, overt diabetes is not related to SLC2A10 mutations associated with ATS. 17935213 2008
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 GeneticVariation disease UNIPROT As such, overt diabetes is not related to SLC2A10 mutations associated with ATS. 17935213 2008
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 GermlineCausalMutation disease ORPHANET As such, overt diabetes is not related to SLC2A10 mutations associated with ATS. 17935213 2008
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 GeneticVariation disease BEFREE As such, overt diabetes is not related to SLC2A10 mutations associated with ATS. 17935213 2008
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 CausalMutation disease CLINVAR Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. 18565096 2008
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 CausalMutation disease CLINVAR A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. 18774132 2009
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 CausalMutation disease CLINVAR A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. 18818946 2009
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 CausalMutation disease CLINVAR Successful outcome in pregnancy with arterial tortuosity syndrome. 19622975 2009
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 CausalMutation disease CLINVAR Arterial tortuosity syndrome in two Italian paediatric patients. 19781076 2009
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 GermlineCausalMutation disease ORPHANET In ATS, loss of GLUT10 results in defective collagen and/or elastin. 20547159 2010
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 Biomarker disease BEFREE Recent data indicate that loss-of-function mutation in the gene encoding the facilitative glucose transporter GLUT10 (SLC2A10) causes arterial tortuosity syndrome via upregulation of the TGF-β pathway in the arterial wall, a mechanism possibly causing vascular changes in diabetes. 20735855 2010
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 GeneticVariation disease BEFREE Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene. 22488877 2012
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 CausalMutation disease CLINVAR Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene. 22488877 2012
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.800 CausalMutation disease CLINVAR Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity. 23410549 2013